I'm Aware That I'm Rare: the phaware® podcast

I'm Aware That I'm Rare: the phaware® podcast is devoted to raising global pulmonary hypertension awareness with dynamic stories from PH patients, caregivers and medical professionals from around the world. Through this series of impactful, insightful and, most importantly, hopeful stories from members of the global pulmonary hypertension community, we hope to further the global #phaware conversation as well as to capture, engage and enable misdiagnosed and undiagnosed PH patients because early diagnosis and treatment can mean the difference between life and death. Topics range from the importance of early diagnosis and global PH awareness, to the impact of clinical trials to how patient support and advocacy are paramount to battling this disease. Learn more about PH at www.phaware.global

Janette Reyes, NP - phaware® interview 504 01/21/2025

Janette Reyes, NP - phaware® interview 504 Nurse Practitioner Janette Reyes from the Pulmonary Hypertension Program at the Hospital for Sick Children shares her extensive experience caring for pediatric patients with pulmonary hypertension. Reyes discusses the unique challenges and developmental considerations involved in treating children from infancy through their teenage years, as they transition to adulthood. Reyes also touches on the emotional and social struggles these young patients face, such as bullying and anxiety, and highlights the role of the multidisciplinary team in supporting their mental well-being. Hi, I am Janette Reyes. I'm a Nurse Practitioner in the Pulmonary Hypertension Program at the Hospital for Sick Children in the cardiology department. My connection to PH is not just seeing patients in the clinics, but also when they're an outpatient and inpatient, thus promoting continuity of care for the patients and families. Whenever the parents and patients have questions, I'm there for them. Today, I want to talk about the range of ages of our patients and how pulmonary hypertension can happen as early as birth. We follow these patients until they're 18 years of age. I've been in this role for quite a while, so I have had the experience of and privilege of caring for these patients as they grow older, from infancy sometimes to their teens and transitioning to adulthood. So, I've had to also consider their developmental stages that they're at when providing care. It's also been a pleasure and exciting to see them grow and change and have different types of concerns and issues, particularly as they get older and they become more trusting of the medical team and you start to observe the changes in their moods during the appointments. So, you have to be cognizant of what they're going through. Perhaps there have been changes in their school or interaction with their peers or how they're coping with their PH as they change schools as well, making new friends and the challenges that they go through. They're a bit more different in a sense that they can't do all the things that other children and teens can do. They're a little bit more limited, let's put it that way, at times. But, we discuss that there are other positive activities or issues that can come out of their current situation, as well. One concern is sometimes they somehow with our interaction with each other, something at school may bother them and so we would focus on that. When I ask them how they're doing, it does come up that perhaps something happened at school and they're feeling sad about it. Sometimes the parents inform me that there's teasing or bullying. One patient was experiencing some bullying at school, because he couldn't keep up with his friends. There's also psychological issues that could make them feel sad as they report. We're fortunate to have a multidisciplinary team of social worker, psychologist-- and psychiatrist -- that can help us with such issues, including anxiety and how they're dealing with their illness, family and friends. For some patients, I start to see them at a young age. As they go through their stages of growth and development they go from being very chatty at their clinic appointments. They're not aware of their diagnosis, so they come to a clinic visit happy because most of them will get a treat after their appointment and they're not really understanding what's going on. They're eventually get used to taking their medication on time. They hear from us that “You have to take this in the morning and then at night and they understand that it is good for their heart. It interesting to witness the change in their disposition as they grow older, where the chattiness starts to become less. This mood start to occur around 11 or 12 years of age, the tween years, when they are quiet during the appointments. They sit in the room and not being very verbal. You have to really try to get information out of them, so the parents are very much helpful and involved in letting me know what they’ve observed and how their child's feeling. Then, as they patient becomes older, and mature, they start to understand their health and illness. At around age 14 years old, I will start more in depth teaching by discussing and illustrating, “This is what's wrong, or this is what's happening to your heart. This is pulmonary hypertension.” Then, once they start to understand, then they start to engage more in conversation, become more responsible and involved in their care over the years. There are still some patients that require more teaching and there are others that understand and being to ask more in depth questions and discuss what they're going through. With respect to the transition process, as the patients get older, they become more responsible in taking their own medications, reporting more of their symptoms to me. This is the one of the goals. I also encourage them to communicate directly to me rather than having their parents inform me and the doctors. The parents start to release some of their, interaction with me. They start to understand that they know what they're feeling, they know their symptoms, they know what their concerns are more than anyone. A typical interaction would be when the parents will wait and remain quiet, allow the child talk and answer the questions and sometimes when the child doesn't... Or the teen forgets something, the parent(s) will say, "Oh, remember you did have chest pain last week." Just sort of as a reminder. The parents and the PH Team help prepare the teen towards transitioning to adult care as they leave Sick Kids. The way I deal parents who remain very involved with the care and responses to my questions, where when I ask the question to the patient and then the parents will right away answer, I turn back to the patient and say, "What is your description of how you feel? What is your pain like? How often?" I turn the conversation back to the patient. However, if the teen is not able to further provide a detailed response, then I'll turn it back to the parents. We discuss goals. I would typically say, "When the next time you come, I want you to tell me how much have you done." For the older patients, I would say, "I want you to call your prescription to the pharmacy. Your parents can be there, but I want you to make a phone call. Then, when you come back, you tell me if you did that." I discuss little goals to help them with that independence. I let the parents know it is also for the best, because you're not going to be there with their child at all times when they're in university or college. We do need to prepare them to be a bit more independent." I've been in my role over 20 years. In the 20 years, we went from just Flolan, intravenous Flolan with the emergence of sildenafil in the 2000s. Then, came the bosentan. Then, what was wonderful was the treprostinil, which then was an option, because Flolan as many of you know, you have that six minute half-life. It's a very demanding, stressful therapy. So with the four-hour half-life of Remodulin, that was something that was positive that came out of these medications. Then, more oral medications started coming to a point where there was even an oral prostacyclin, where we could at least prolong the subcutaneous and the IV medication therapy. Sotatercept, with that coming up, that's another exciting new pathway of medication. So everyone's certainly looking forward to that. We've come a long way, and my conversations with families, it's still the same in the beginning where it is overwhelming. I tell them not to Google, although they will still Google, which is understandable. But now we have so many resources in the PHA Canada website and PHA Association in the US and other countries that we could ensure them and say, "there is no need to Google. Go to these websites, and that's where you'll find your information." That's the change in helping these parents in the beginning who are so overwhelmed with the diagnosis, particularly with idiopathic pulmonary hypertension. Then, over the years, it has been easier because there are medications. We'd no longer say, "Your child has three to five years to live." Now we don't know. These children are becoming adults, growing up to be adults, perhaps only on one medication, maybe on just two oral medications. The types of conversations have certainly changed more in a positive way. It's an exciting future up ahead for even new patients who are being diagnosed. So, hopefully there's going to be more medications and maybe a cure. A cure is what we're looking for. We're fortunate we have different options and now a different pathway of medication, but let's hope a cure is coming soon. I think one thing that I'd like to add is that parents should be open to allowing their child to grow up as normal as possible and allow them to experience life. These children can do many activities of daily living and be happy. They know their limits. If they want to go out with their friends, just set out some guidelines in case there's issues or emergencies. That way they can hang out with their friends. It's okay. It's okay if they want to do a little bit more, physical activity such as sports and employment. Talk to the PH team. Together, we can help the child grow up as normally as possible and experience life to the best that they can live. One last thing that I'd like to add is that I'm very fortunate and privileged to work with children. Each child is different and unique in their own way. So, the way we treat them and my interaction with each and every one of them is unique. The care comes from the heart. My name is Janette Reyes, and I'm aware that my patients are rare. Learn more about pulmonary hypertension trials at . Engage for a cure: #phaware Share your story: Like, Subscribe and Follow us: . /episode/index/show/phawarepodcast/id/33946612

Episode 504 - Janette Reyes, NP 01/20/2025

Jennifer Howard - phaware® interview 503 01/14/2025

Jennifer Howard - phaware® interview 503 Jennifer Howard’s inspiring story is one of resilience and hope in the face of immense challenges. Diagnosed with idiopathic pulmonary arterial hypertension (IPAH) in July 2019 after a long and frustrating path to answers, Jennifer faced the daunting reality of living with a chronic illness requiring continuous IV medication through a pump. Despite the overwhelming nature of her diagnosis, Jennifer discovered an inner strength she never knew she had. With a focus on living life to the fullest, she learned to navigate both the bad days and the good, embracing moments that brought her happiness and refusing to let despair take root. My name is Jennifer Howard, and I'm from Calgary, and I was diagnosed in July of 2019 with IPAH. The day after I was diagnosed with my right heart catheterization, I immediately went on to the IV medication Caripul (epoprostenol). So I'm on a pump 24/7. I complained to my family doctor, "I'm breathless when I do stuff," and she's like, "Here's an inhaler." I was like, "Great." Then, I was like, "It doesn't work." Then, she said, "Try another inhaler." "It doesn't work." Then, New Year's Eve day 2018, and I was walking to Walmart and I fainted. My thought process was if I make it to that light, I will be okay because I can brace myself, catch my breath. But I passed out. Some lovely people called the ambulance on me. I said, "No, no, no, I don't want to go to the hospital, because they're going to charge me $250 for me to be told I didn't eat enough food." But then they took a EKG and they're like, "You are looking a little weird. You should see your family doctor. That took a couple of weeks. Then she said, "I'll send you for a stress test." Nothing happened with that. The cardiologist wasn't speedy, so about March, I finally got the stress test and they're like, "Nothing's alarming." Then, they said, "Oh, we'll do an MRI." They're like, "You'll hear from us in five days." The next day, I got a call. "You have pulmonary hypertension." I'm like, "What is pulmonary hypertension?" They're like, "We don't know." So we're both Googling at the same time. I'm like, "Great. I'm dying, because Dr. Google is not accurate." Within a week, I was sent to the Calgary clinic. Within days, I had my right heart catheter and I was put on the pump. From the time I fainted until my diagnosis, it took six months. But before that, it was just years of my doctor saying, "Here, have an inhaler," because she didn't care, which is a sad thing to say, but she really didn't. I even had the thought process, before I was diagnosed, was I'm not going to see the end of the year because I was just feeling crappy. The doctors here saved my life. I love my pump, keeps me alive. I didn't have a lot of process time, because I went from meeting my then doctor on a Tuesday to having my right heart catheter on the Thursday, to him saying, "We need to immediately admit you." By Friday morning, I had my new accessory. I was numb to the situation. Then, Sunday hit. We had this book to read about all our instructions. I had read it, but I didn't process it. Then, I'm like, "I'll read it again." I just started to cry in the hospital. One of the nurses came in and she's like, "Now is not a good time." I only let myself have that one day of just, why me? But I couldn't let myself focus on that because I was like, "I don't want to become my illness." I came out swinging, and I tell my mom. I'm like, "I never knew until I was diagnosed that I was a fighter." Because I'm not. I'm the introvert. I'm the book nerd. "Oh, no. No people." But I was just like, "I'm coming out swinging." I took a lot of inspiration from my uncle who had a massive stroke and he had this cane, and his physiotherapist is like "Not that cane, because it makes you look sick, so we're going to give you this cane." That stuck with me once I was diagnosed. I spent a lot of time when I was in the hospital, because I had nothing else to do for two months, shopping on Amazon for things that were cute or pretty or things that just didn't make me look or feel sick ,because I was like, "No, no, no, no, no." In the book it said something about a cooler to carry your medication because the Caripul cassette needs to stay cold. You can't just throw it in a bag and away you go. It needs to be kept cold, so that means ice packs or a cooler. That's what really broke me. I was like, "I don't want to walk around with a cooler." But I found the baby bottles that you can use to keep baby bottles cold. I was like, "My ice packs fit in it perfectly." So I was like, "I don't look sick." I have my pretty pink backpack, but just is my cold bag. I really took inspiration from him. His doctors had no hope for him, but he and my aunt just kept fighting. I was like, "Well, if he can fight to walk and talk, I can fight to breathe." I just really used him as my barometer of doing the best I can. We all have bad days, but it's just not drowning in my bad days. Every day I get up and get dressed, even when I feel crappy, because I don't want to... Well, first of all, I have to because I have to change my cassette every day, but if I were to stay in bed because I'm a wallower, I would never get out of bed. I know my weaknesses, because I'm a little bit of a bummer. So, I was like, "I can't wallow in my own personal weaknesses because I just want to keep going." I had two young nephews at the time. I was like, "I'm not ready to say goodbye to my nephews, to my brother, to my mom, to all my friends." I was 46, so I was like, "I'm not quite ready to go yet." I kind of kept that mentality through everything. PH is not the same for everybody. None of our journeys is the same, and so I know I could say like, "Oh, I came out swinging," and somebody would be like, "I just don't have the energy to swing." I try not to judge how my journey has been based on theirs. Don't base your idea of swing on my idea swinging, because maybe yours is just waking up that day is your idea of fighting. I turned into a gamer girl, so I started gaming. I'm terrible at Fortnite, but I have a lot of fun. I found people to game with. It helps because it gives me a social aspect, because I don't work. I'm on disability because of the side effects of this drug, and all my friends are working. But when I game, it's with people. I have a full-time mom who games, so I get a social aspect I didn't have before, and it's fun. I'm terrible, but I have fun. I turned into a gamer girl in my 50s. It's funny because I never considered myself positive or even a fighter, and so that's what my illness has taught me, that I'm a fighter, that I am far more positive than I was before. I think you need to find something that makes you happy, not even passionate or... I'm not saying run out and write a book. If you can, that's awesome, but if that doesn't make you happy, don't do it. If numbers make you happy, find something that makes you happy. It makes it easier to not dread every day thinking, "I'm sick today. I'm sick today." Some days it's just like, "I'm headachy, I'm tired. I don't want to do it." So I don't do it. We have to also let ourselves be permissioned to have our bad days, so then we can embrace the good days a little bit more. But just find something that brings a smile to your face and makes you forget for even five minutes, "I'm a sick person," because I think if it were me, if I were to spend so much time thinking, "I have a chronic illness that will probably kill me," I can't let myself think that way. It's so weird because teenage me would've moped in this. I'm surprised at what this illness has taught me and what other people with this illness have taught me. Everybody facing any chronic illness were just freaking amazing. The first time after I got on my pump and I started feeling better, I walked across that same spot I passed out on, because I have to walk there every time I go to Walmart. I always look at it and I go, "I see you." I just keep going, because I remember what it was like to be like, "Am I on the ground? My pants are cold." So, in five years, there's so many changes happening with medications. I know we're all staring intently at Sotatercept. We're like kids waiting for Santa. That's how I get, and every question is about it. I'm hoping that drug or the next drug, and that one day I don't need the pump and that nobody else needs a pump, that friends don't have to be on oxygen, that I don't have to lose more friends. I just can't wait to see what comes down the pipe. But for me personally, I don't know. I hope I get better at Fortnite, and I'm actually writing. But I don't know. I just keep swinging. My name is Jennifer Howard and I am aware that I am rare. Learn more about pulmonary hypertension trials at . Engage for a cure: #phaware Share your story: Like, Subscribe and Follow us: . /episode/index/show/phawarepodcast/id/33946557

Episode 503 - Jennifer Howard 01/13/2025

Kaitlyn Salonga - phaware® interview 502 01/07/2025

Kaitlyn Salonga - phaware® interview 502 Kaitlyn Salonga shares her journey of resilience and advocacy while living with pulmonary hypertension (PH). Kaitlyn recounts her fight for personal autonomy, including a successful battle to secure surgery for her reproductive health after initial denials due to weight and health concerns. Through her triumphs, she highlights the importance of advocating for oneself in the face of medical and societal challenges. Her story is a powerful testament to embracing one’s identity, breaking down stigma, and showing that life with PH can be fulfilling and bold. My name’s Kaitlyn Salonga. I also go by Kate, or on social media as , which is how I like to describe my disease of pulmonary hypertension to those who might not be so familiar with it. I was diagnosed in December, 2018. For my particular treatment, I’m on triple therapy, so two oral pills and IV Caripul. Last time I chatted here, it was mostly about how I had recently gone through a breakup in my relationship of 11 years. Unfortunately, we were the example of what can happen negatively once a patient gets diagnosed. That resulted in me being a single and having to navigate a new version of my life where I was living on my own and having to be my own caretaker and having to mix everything by myself. Once I got comfortable in all of that, I was able to start dating again, but that still brought up the issue of pregnancy versus PH, which do not go hand in hand as most of us know. I brought up the topic of birth control again to my doctors. I was fighting to have my tubes removed or something that was a hundred percent proof, because the IUD was not a great option. My birth control pills were half as effective, because of my PH meds, so I wanted something that was foolproof. Unfortunately, the first doctor that I had spoken to about three years ago had said I was too overweight and too sick to operate on, which is a harsh thing to hear when you’re trying to get an operation that could save your life or be preventative in something that could harm your life. I asked the doctors again, “Let’s have a second opinion.” I was very lucky that a doctor in Richmond was happy to do the surgery. I had a date, I had signed forms, only to be told that the anesthesiologist disagreed and they canceled the surgery. So, I was back at square one. I was very grateful to her because she understood the risks that were to be taken if I didn’t have the surgery, which is what a lot of people were not kind of open to, which is basically if I get pregnant while I have PH, my heart’s going to explode. Obviously, that is something that we want to prevent. She understood my concerns as a patient, that I wanted to take charge of my sexual health. It wasn’t a situation where I could ask a long-term partner, “Why don’t you get the vasectomy so I can have control of my body?” This is something that I wanted to do for myself and my future. She actually referred me to another doctor and we set a date for March, and I finally got my fallopian tubes removed. The surgery was successful. I had no complications in it other than some allergic reactions to the face mask that they used, which was completely unrelated to my pulmonary hypertension. I’m happy to report that all went well, and that is an option, if your PH is stable, that you can bring up to your doctors. I want people to know that this is something that they can do to take charge of their sexual health. And if you want to learn a little more about my experience, you can actually check out the article that I wrote in PHA Canada’s Connections Magazine about . I had the pleasure of rejoining a community choir that I had spent a lot of time with in my twenties. I wanted to kind of prove to myself, can I still sing with a lung disease? That was a very daunting question because that was part of my identity for a very long time. To be burdened with this lung disease and to have this thing that I worked so hard on for so long kind of taken away from me, there was a lot on the line to see if I could actually handle rehearsals and learning music and putting effort into all of that, and standing for a whole concert to see if I could perform again in front of the stage and doing what I love to do. I’m happy to report that after eight weeks of very compacted learning and rehearsal and very grueling work, I was actually able to do it again. I was filled with so much joy and a personal accomplishment after that experience. Unfortunately, that kind of led to a different experience. Being somebody who has mobility needs and considers themselves disabled and is also attached to an IV pump, I was having conversations with the directors about the accessibility of this space and how I had to climb up and down stairs just to get to rehearsal. That winded me. I couldn’t get up to use the bathroom because of those stairs, and simple things like that that a lot of able-bodied people don’t necessarily think about, especially in the frame of a younger person. Unfortunately, with that organization, we had some photos taken on concert night. I was feeling good, only to realize that when those photos were shared later, my site, my dressing, and my tubes that were connecting me to my life-saving device were photoshopped out of the picture. I asked them to take it down. I asked them to remove it from all marketing materials, and I told them I do not consent to this form of ableism. The organization has apologized for the actions that were taken by the photographer, not by the instruction of the organization. But that’s an example of the subtle things that might happen when you are in this situation of kind of approaching this world of ableism and disability awareness. It’s little things like that that can really frame your perspective of how far we have to go still in our work with ambassadors. On the flip side of that, I’ve actually had the pleasure of working with a photographer, Tilly Nelson, who was the photographer in residence at Langara. She asked me to be part of a project called . This project highlighted the fact that disabled people are all around us, people with visual differences are all around us. It’s time that society acknowledges our contributions. I was very flattered be her tube representative. I was rocking the pulmonary hypertension devices and the little inscription on my poster that was hanging up in this college, in this art exhibit for about a month said, “I deserve a seat at the table.” I think what I’d love for people to take away from this is not everybody with pulmonary hypertension considers themselves disabled, and that’s okay. That’s an identity that I would like to put on myself, and I’m proud of it. I think it has given me a lot of bravery and opportunities to speak up on people of other differences. We do have a lot of work to be done, but my hope is that people with pulmonary hypertension or any set of tubes specifically don’t feel so isolated that they don’t feel like they’re such this rare commodity. I want to see tubes in advertisements. I want to see tubes in leadership roles. I want to see more medical devices being understood as a common presence in our lives, because they are all around us. People do hide them, but they don’t need to hide them. They can actually use them. It’s part of their everyday lives. I just want to point out that it’s no different than somebody who uses a pair of glasses or a hearing aid. We just don’t see it as much. If we put more of it out there, then people are going to start feeling better about themselves. I’ve had good and bad luck traveling with my condition. Obviously, at the airport, you are usually instructed by security to take off your belt, take off all your bags, your jackets, and all of that, but I’m attached to my medical device, and I’m not about to stop my IV and unhook it just to walk through the security gates. Most recently from flying from Vancouver to Calgary, I had the best airport experience that I’ve had so far. It was acknowledged that I have a medical device. It wasn’t just me telling the people. It was them communicating to each other that there is somebody with a medical device that they cannot take off. That has been such a huge improvement from where it was. In earlier times, when I was traveling, they would think it was a weapon. Somebody actually was ready to pull their taser on me just because I was gesturing to my fanny pack just to say, “Hey, listen, I can’t take this off.” I’m very, very impressed with how far airport security has come, at least at YVR. I hope anyone out there who is on a pump device or is considering joining us, that you realize that it’s not the end of the world. It can actually be extremely beneficial, and that you can lead a really full and exciting life despite being attached to an external device. I hope this has opened your eyes a little bit as an insight to pulmonary hypertension and my life as . I hope that we can look forward to less invasive therapies in the future. I hope everybody on the outside looking in can realize this is part of our life and it’s our everyday norm, and that they can accept it, because we already are on our way there. I’m Kaitlyn Salonga, and I’m aware that I’m rare. Learn more about pulmonary hypertension trials at . Engage for a cure: #phaware Share your story: Like, Subscribe and Follow us: . /episode/index/show/phawarepodcast/id/33946517

Episode 502 - Kaitlyn Salonga 01/06/2025

Lisa Mielniczuk, MD - phaware® interview 501 12/31/2024

Lisa Mielniczuk, MD - phaware® interview 501 Dr. Lisa Mielniczuk, a cardiologist at the Mayo Clinic in Rochester, shares her personal journey of becoming interested in pulmonary hypertension and the challenges faced by patients in accessing care. Dr. Mielniczuk emphasizes the importance of building connections with patients and involving them in decision-making. She discusses the CRAVE study, which aims to test novel and repurposed therapies for right heart failure using a platform trial design. She highlights the importance of patient involvement in the trial design and its upcoming feasibility study. My name is Lisa Mielniczuk. I am a cardiologist and Sr. Associate Consultant at the Mayo Clinic in Rochester, formerly from the University of Ottawa Heart Institute in Ottawa, Canada for many years. I am a specialist in what's called advanced heart disease. So, my area of interest and specialty is looking after patients with very serious and complex heart disease. That includes things like heart failure. I look after patients who have or have had or need a heart transplant, as well as patients who require mechanical circulatory support or heart pumps to help to keep them well. I would say quite honestly that one of my biggest interests and passions in my career thus far has been being involved in the pulmonary hypertension community and looking after patients with pulmonary hypertension. I'm really excited to talk to you a little bit more about some of the research that is launching here in Canada to help to improve the outcomes of our patients with pulmonary hypertension and right heart failure. Before I do that, though, maybe I'll tell you a little bit about myself in terms of why I got interested in the field of pulmonary hypertension. That was many, many years ago when I first started my clinical practice, I was on staff probably about a year or less, and I was working in the intensive care unit. We had admitted a patient with heart failure and she was a very young girl. She was only 19 years old, very nervous, appropriately so. It was quite obvious to all of us that she was very sick. Now, initial echocardiogram or ultrasound of her heart showed that she had significant right heart failure and she had severe pulmonary hypertension. She was very unwell and a very high-risk patient. Immediately, all of us as a team rallied and wanted to do everything we could to help her in this journey of diagnosis and management. In fact, actually very quickly, it became apparent that this wasn't the first step in her diagnosis. In fact, she had had symptoms for many, many months before she came into the intensive care unit. Like many patients with pulmonary hypertension, her symptoms were attributed to other things, other things that might be more common in a woman with shortness of breath. That, like for many of our patients, led to a delay in her diagnosis. So, by the time she had her diagnosis, unfortunately, she was very ill. That was an important realization for us that we needed to do better. Then, there was a second realization that happened in the care of this patient. That was that, at that time, many years ago, in the infrastructure in Ottawa, we did not have a Pulmonary Hypertension Clinic. In fact, we didn't have a PH program at all. So, all of our patients that were diagnosed or needed treatment for pulmonary hypertension had to either go to Montreal, which is about two hours away, or to Toronto, which is about four and a half hours away. We ended up transferring the patient to the excellent care of the Toronto program, and she did very well. But can you imagine being told that you have a very serious disease and then being told that you now have to be transferred away from your family, away from your home, to an external institution to receive care and treatment? It was right then that I knew that, in Ottawa we needed to do better. We needed to do better for our patients and our community. So, along with some incredible collaboration with a colleague of mine from the pulmonology side and some excellent collaboration with nursing support from the Heart Institute and even support from industry partners, within a year, we were able to start a PH Clinic here in Ottawa. Our little program grew. I'm really happy to say that now we are certainly one of the larger programs in the country and really actively involved in research, support, and education. We've really been fortunate to make a huge difference to the care and the quality of our patients with pulmonary hypertension. That's a little aside, but it tells you a little bit about our story, and why I'm here, and why I think being here is so important. One of the things that I think is just as important as the medical therapy of pulmonary hypertension is the connection that we build with our patients. Myself and my colleagues have been really lucky to work very closely with incredible patient partners and organizations to unite our community. I've been working with Pulmonary Hypertension Association of Canada for many years now, previously as vice chair. I can tell you quite honestly that it is probably the most fun part of my work. In everything we do, we realize how important it is that we have our patients and our caregivers first and foremost with all the decisions we make. With that as kind of an introduction, I'd like to tell you a little bit about some of the research that we do. Now, my area of research interest for many years now has been in the field of right heart failure. Now, if you haven't heard of that before, and I tell my patients all the time, "Heart failure sounds like a terrible thing, right. My heart is failing," and we need to come up with a better term for that. But essentially, what that means is almost you can think of it as a supply-demand mismatch between what your heart is able to give in terms of cardiac output and blood flow through your body and what your body needs to feel well to do the things that we love to do, whether it's exercise or even walking, talking sometimes just eating and feeling comfortable at rest. Whenever there's an imbalance there where the heart is unable to provide the needs of our body with what we need to feel well, we develop the symptoms of heart failure. Those symptoms can include things like shortness of breath, fatigue, chest discomfort, fluid retention, exercise intolerance. Unfortunately, many of our patients that live with pulmonary hypertension are at risk of developing right heart failure. Now, why is right heart failure so important? It's very important for a number of reasons, but I'm going to share with you probably two that have really inspired me to do the research that I'm doing. The first is that right heart failure is one of the most important predictors of what we call prognosis. How we determine how we need to worry about a patient in the short or long term? We know that if patients develop symptoms of right heart failure, that they're going to struggle a lot more. So, it's a very, very important thing to identify. The other thing that's known about right heart failure is it's not so much the severity of the pulmonary hypertension or how high the blood pressure is in your lungs that determines whether or not you get right heart failure. It's a much more complicated algorithm. In fact, we don't even know all the pieces of what makes somebody predisposed to right heart failure and what makes somebody relatively spared from right heart failure. But those are some of the things that in my research I've been trying to answer over the last few years. The second thing that I want to share about right heart failure is that unlike left heart failure, which is a very common type of heart failure that I also look after in other clinics, in other areas of my job, the treatments for right heart failure are very, very limited. In fact, we have great medications that work really, really well on failure of the left heart to improve quality of life, improve survival, and actually sometimes even improve pumping function of the heart. Yet, those same medications, when applied to the right side of the heart, are either shown to be not effective or, in some cases, dangerous. So, there's a lot of uncertainty about how we identify right heart failure, how we predict right heart failure, and importantly, how we treat right heart failure. This is where we are focusing on our energy. My colleague, Dr. Jason Weatherald, and I have been talking about this for quite a few years now, because we want to develop a research line of focus that can help us to move forward faster and more efficiently, potential treatments for right heart failure. One of the things that we think is very, very important when we're talking about clinical research is when we used to do clinical research many, many years ago, it was really thought about from the level of the healthcare professional. The study was designed by the healthcare professional. We enrolled patients who participated in the clinical study, and then we analyzed the results and came up with conclusions. We hoped that the patients would agree with our conclusions, but they historically weren't given a lot of information or attention into how those results may impact them. I can say very gladly that the landscape for this has changed quite dramatically. We now understand that for medication to be successful, for patients to take medications and feel good about medications and be engaged in the whole interaction of their clinic encounter with their healthcare team, they have to be at the table. Not only do they have to be at the table, but they are the most important part of the conversation. So, one of the things that we're trying to do with our CRAVE study is engage our community partners, our patient partners, our people with lived experience, and their caregivers at every step of a clinical trial design. What that means is we want to know what matters to our patients. What clinical endpoints in a clinical trial are relevant to them? What type of clinical study would they feel comfortable participating in? What type of clinical study would they feel very uncomfortable with? What sort of result would be meaningful to them, so meaningful that they might actually feel very good about taking a particular therapy, or what sort of result would be not consistent what they think is in their best interest? So, with CRAVE intertwined into the design of our project is going to be partnership, and we've been so grateful to have excellent partnership through PHA Canada to really engage our patients at every step of the trial design. The last thing I'd like to say is just to tell you a little bit about the trial design. As you might imagine, from everything I've been saying, CRAVE is designed to look at novel or potentially repurpose therapies for right heart failure. By repurposed, I mean treatments that have been shown to be effective in one clinical condition to see whether or not they're effective in patients with chronic right heart failure. One of the things that we've also struggled with in the land of pulmonary hypertension and right heart failure research is it's very hard to do large clinical trials, because we know that there are not hundreds and hundreds and hundreds of thousands of patients with pulmonary arterial hypertension. Oftentimes, clinical trials are smaller as a result, and their endpoints or their results may be limited because you may not have enough power in the study to find a meaningful result. One way around that is a novel statistical design called a Platform Trial. That's what we are trying to build with CRAVE, whereby not only are we testing one treatment at a time, but we may, in fact, be testing multiple treatments at a time in different scenarios and over different arms. By following things very closely, we might be able to identify, early on, a clear winner of these early studies, a drug that shows a lot of promise, and we can shift the design and the nature of the study to preferentially enroll patients in a treatment that might be showing good promise. Alternatively, in a treatment that may not be showing very good promise, we can stop studying that treatment earlier on and shift our focus without having to end a study and start over again and, therefore, lose time. We had meetings in Edmonton, Alberta, recently of a number of engaged stakeholders and community partners to sit down for a day and a half and really just talk about what would this CRAVE trial look like. What sorts of things are important to us, what therapies might be good candidates to trial, and how might we launch this as we go forward? I'm really excited about the next steps. We are in the process of launching what we call a Feasibility Study, which is sort of a mini-scale version of what we anticipate the larger trial may be, and we're very, very excited about launching this in Canada in 2024. But we're also really hopeful that we'll be able to partner with some excellent colleagues and friends in the United States and potentially consider this a North American initiative, because we do feel that it is so important. We are really excited about this new day of clinical trial research, where research is not just on the patients, but the patients and the caregivers, and everyone are working collaboratively together, all at the same table all at the same time. My name is Lisa Mielniczuk, and I am aware that my patients are rare. Learn more about pulmonary hypertension trials at . Follow us on social @phaware Engage for a cure: #phaware Share your story: #phawareMD #HeartWorksApp /episode/index/show/phawarepodcast/id/30380828

Episode 501 - Lisa Mielniczuk, MD 12/30/2024

Jason Weatherald, MD - phaware® interview 500 12/24/2024

Jason Weatherald, MD - phaware® interview 500 In our 500th episode, Dr. Jason Weatherald, a pulmonologist at the University of Alberta in Canada, discusses a project called CRAVE (Canadian Right Ventricular Failure Adaptive Platform) to address the lack of treatments for right heart failure in patients with pulmonary hypertension. He explains that platform trials, which allow for multiple interventions to be tested simultaneously, are more efficient and offer a higher chance of receiving a potential therapy compared to traditional clinical trials. Dr. Weatherald emphasizes the importance of patient involvement in research and highlights the use of , which allows patients to measure their walking distance at home, as a potential endpoint in the trial. My name is Jason Weatherald. I'm a pulmonologist in Edmonton in Canada at the University of Alberta. My main area is pulmonary hypertension in terms of my clinical focus and my research program. I also practice as a lung transplant physician in Edmonton. I've been pretty involved in pulmonary hypertension research since about 2016 and was practicing before that for a couple of years. So, I'm coming up on 10 years of being in this area. I'm starting to work on a really exciting project called CRAVE, which is the Canadian Right Ventricular Failure Adaptive Platform. CRAVE is sort of a response to, I guess a gap identified by some of us in the pulmonary hypertension space that we've been really researching treatments for the blood vessel disease in the lungs, but there haven't been a lot of treatments for the consequences of it, which is stress on the right side of the heart and right heart failure. As opposed to left heart failure, which is a very common problem for which there are many treatments that have improved the prognosis of that disease, there really haven't been a lot of therapies that target the right heart and restore right heart function or help people who have developed a dysfunction or failure of the right side of the heart. So, one of the problems we identified was that, this is a less common problem and it's harder to study rare conditions. In PAH, we've done a pretty good job of that as a community developing multicenter trials across many countries, but that hasn't been done for right heart failure yet. We learned a lot of lessons through COVID-19 about how to conduct efficient clinical trials on a large scale. We identified that there's a type of clinical trial called a platform trial, and that's where you have sort of one common infrastructure for running a trial, but you can look at multiple interventions simultaneously, and you compare them to the control arm in the trial. From a patient's point of view, this is potentially more interesting, because there's a higher chance that you get on a new potential therapy rather than being on a placebo or the control. If, for instance, if you have four treatments of interest in your platform trial, there's a four out of five chance that any given patient gets randomly assigned to being on treatment. The other advantage of this is that because these treatments share the same control arm, it's actually more efficient to run a trial. What I mean by efficient is that you can arrive at an answer quicker, and if treatments don't work, you expose fewer people to a potentially futile therapy. I became really interested in this idea and this design of clinical trials during the COVID-19 pandemic, because these were rolled out on a very large scale. In fact, much of what we learned about how to treat COVID-19 and hospitalized patients came from these platform trials. So I was really impressed by our ability to do them and to arrive at answers efficiently. My colleague and partner on this project, Lisa Mielniczuk and I sort of talked about this idea. In fact, it's been almost two years that we've been working on this idea of the CRAVE platform trial. We've managed to kickstart it a little bit and sort of develop a mini version of this trial called a pilot trial where we just make sure that we can run such a trial and we can recruit participants into this trial to make sure that it's feasible to do this on a larger scale. That's the stage that we're at right now in the CRAVE Program, with a vision in the coming months to years to develop this project across Canada and probably also into the United States, so that people who develop right heart dysfunction due to many potential causes of pulmonary hypertension may have access to this type of a research program. Recently we held a meeting here in Edmonton, called the CRAVE Planning Meeting. The purpose of this was twofold. Number one was to engage people who are important stakeholders in this type of research, specifically the patients, but also the doctors and nurses who take care of the patients that would go into this trial, to understand a bit better about how they felt about how we were designing the trial, whether it aligned with their ideas of what was important to them. In terms of the things we're measuring in the trial, what do they think would be important for us to collect. We gathered with almost 40 people to talk about different aspects of how such a trial would be designed and conducted. In the Canadian context, we wanted to make sure that it was addressing specific barriers that some people have in this country to participating in research for a variety of reasons, whether they be sort of cultural or geographic. We want to make sure that people who are underrepresented in clinical trials and who have difficulty accessing clinical trials may have better access to this trial. There's a variety of things that we can do to sort of increase accessibility for people to participating in research if they want to. We wanted to engage patients and clinicians to understand those barriers a little bit better and think about ways that we can improve accessibility to the CRAVE trial, hoping to develop ways to minimize those barriers. So whether they be making some aspects of the clinical trial conducted remotely or virtually, and doing some of the assessments outside of the hospital. Also thinking about ways that we can let people outside of the big academic institutions even know about the trial. So, getting the word out there and making it easier for people to get access to the trial. So those are some of the types of things that we've been discussing before and after the meeting, and particularly during the meeting. The timeline for this whole project can conceivably last several years. What we're working on right now is this feasibility trial. So that's like a mini version of the trial that we're aiming to get going and complete within two years. We would recruit 30 people in that trial across several sites just to show what the problems are or the solutions could be to recruiting people. What are the some of the barriers from the patient perspective, and can we capture the data and identify people with this condition and get them into a trial and run it. That timeline, although two years sounds like a long time, it's really not a long time to design and start a clinical trial from scratch and to recruit and analyze the data from 30 patients. In parallel, we will be working on a couple of other things to inform and design the larger CRAVE trial. That's a platform trial that could involve several hundred patients and could run over several years. The important thing about platform trials is that they don't necessarily have a definite ending to them as long as new therapies are identified, they can be added to the trial and sort of plugged in as like a module in this larger trial perpetually. So, it could go on for many years as long as you have patients and funding to do the trial. I think it's a really exciting way to potentially look at multiple promising treatments for people with right heart failure and pulmonary hypertension. This CRAVE trial I think is unique and innovative in several ways in that we really aim to have patients embedded in the trial as partners and not just subjects of the trial. I think that is an important example of what we call patient-oriented research, where research really has to be meaningful to patients. I think the best way to ensure that research is meaningful, is to have them as colleagues and collaborators, having meaningful input from them at all stages of the research. Even before CRAVE, this actually comes from a project we did in Canada where we asked patients and their families, what do they think are the most important priorities for future research? CRAVE kind of spawned from that exercise where we identified from the patient's perspective, what are the top 10 problems that you think future research should focus on? Things that had to do with the right ventricle and right heart failure, there were two sort of questions in the top 10 questions that had to do with the right heart. So, I think involving patients even from the beginning about what is important to you that we focus on, and then getting patient input into the design of research and how we should conduct it, makes the results more meaningful to patients. It builds a partnership so that it's not kind of us and them, but it's us together developing research and conducting it. I think ultimately that will improve interest and buy-in from patients to make sure that they think that this research is important for them. One of the things that's important to highlight is, one of the aspects of this trial that we'd like to include, and it's directly relevant to , of course, is one of the things that is typically measured in clinical trials is the six-minute walking distance. We know that this is an endpoint that's used in clinical trials that regulatory agencies like the FDA and Health Canada will accept in terms of a drug or an intervention needs to show benefit on the six-minute walk distance because that's meaningful to patients, it's a measure of how they function in regular life. That's why we care about it in the clinic and in research. Of course, there's been this app developed from phaware called , which among its features includes the ability for patients to do their walk test at home and to do it more frequently. To me this is a really interesting endpoint in a trial that we could look at. So, one of our plans is to validate this app, and its measurements further in the context of a clinical trial so that hopefully it can be something that we can record in the larger CRAVE trial and look at how these interventions affect people not just at their clinic visits six months down the road, but how does it affect their walking time and distance day-to-day. I think this app that phaware has and that our colleagues and friends in have worked on, looking in the research area, I think it's a really exciting innovation. It's a good example of what I mean about trying to decentralize clinical trial activities as much as possible to record as much of the information that you need in a clinical trial outside of the hospital, making it more convenient for patients, but actually more representative of what's going on in their day-to-day life. Learn more about pulmonary hypertension trials at . Follow us on social @phaware Engage for a cure: #phaware Share your story: #phawareMD #HeartWorksApp /episode/index/show/phawarepodcast/id/30380713

Episode 500 - Jason Weatherald, MD 12/23/2024

Tanya Stinson - phaware® interview 499 12/17/2024

Tanya Stinson - phaware® interview 499 Tanya Stinson shares her journey of being diagnosed with pulmonary hypertension (PH) after persistent symptoms and misdiagnoses. Her struggle highlights the difficulty of finding the right diagnosis and the emotional toll of living with a rare, chronic disease. Tanya’s experience underlines the fear, mental challenges, and hope intertwined in navigating PH, inspiring others to seek support and find solace in community, showing that even in isolation, they are not alone. My name is Tanya Stinson. I’m from a really small town in Manitoba called Saint Eustache Manitoba. It’s about half an hour away from Winnipeg. I was diagnosed about a year and a half ago with pulmonary hypertension. My family doctor thought for sure that it was a heart condition. I kept going to her and telling her, “I can’t breathe, I can’t breathe, I can’t breathe.” She kept saying, “Well, we’ll get you in to see the heart doctor.” My husband even came with me to a couple of appointments and he’s said, “It’s not her heart. She can’t breathe. It’s her lungs.” The doctor was like, “No, no, no, no, it’s her heart.” Being a woman of larger size, it’s automatically assumed it’s my heart, and I said, “It’s not my heart. It’s the fact that I cannot breathe. I can’t go from my bed to the bathroom, which is like five steps away, without having to stop halfway to catch my breath.” She said, “Well, let’s just wait. We’ll get you to the heart doctor.” I saw the heart doctor. Then, that weekend I couldn’t breathe hardly at all. I phoned her office on Monday morning and I said, “Can you please, please, please get me in? I need to see you. I cannot breathe.” So I went in. She put a pulse oximeter thing on my finger. She took it off my finger and she cleaned it and then she put it on her finger and then she put it back on my finger. She said, “I think this thing might be broken because you’re registering 71.” I said, “Well, see, I told you I can’t breathe.” She said, “Okay, well you need to go to the emergency room.” In my province, which is Manitoba, we have urgent care, and then we have three hospitals in Winnipeg. She said, “Go to what we call an urgent care, which is Victoria Hospital.” But she thought she was sending me to a regular hospital and that wasn’t the case. I got to this urgent care and they did my oxygen. Then, I had to wait for a special ambulance to take me to St. Boniface Hospital in Winnipeg. That’s where I met my doctor. The way I look at it is he knew the second he saw me almost what it was. But he said, “We have to do tests, and it’s already like 10 o’clock at night. There’s no way we’re going to run tests today, so we’re going to admit you.” I had the right heart catheterization. He came in the room. The look on his face probably scared me the most, because it was a look of very much of concern and almost sadness in a way. When I saw his face, I’m said, “Am I going to die?” That was the first thing that ran through my head. When he told me it was pulmonary hypertension, I said, “Oh, okay, so I’ll take a couple of pills and I’ll be fine.” He started me on medication right away. Within the first week, I already felt better. I thought, okay, the longer I’m on these meds, I’ll be able to breathe again. Then, I went home and I had a week off of work before I had to go back to work. It’s almost like I plateaued. My breathing wasn’t getting better and I kept thinking, I thought these pills would help. I thought they would cure me. Even though he told me it’s not curable right now, I felt at least I would be able to breathe. Now knowing, a year and a half in, that this is the best it’s going to get is scary in a way, but at least I’m not where I was a year and a half ago before diagnosis when I couldn’t even take five steps to go to the bathroom. Now, I can work without having to worry about anyone looking outside the window going, why is she stopped in the middle of the road walking into work kind of thing. I don’t have to worry about that. I can at least get myself into work and stop and take a break and then continue on. I don’t have to worry about people looking at me and saying, “Well, why is she just standing there?” I don’t have to pull out my cell phone pretending I’m taking a phone call in a parking lot so that I don’t look like an idiot stopping in the middle of the parking lot to just catch my breath. My doctor, because he works at the pulmonary clinic, he told me, don’t Google anything because it’s the wrong thing to do, but someone tells you not to Google something, you’re going to Google it. So, that was a bit scary. But then I found the website and that helped a lot. But in our province, there has to be more of us. We got more than a million people, so if it’s one in a hundred thousand, you figure there have to be other people, but you still feel really lonely because you don’t know of anyone. I was able through PHA Canada to find a PHA buddy and she has been a godsend for me. She’s answered so many questions and has been there to support me through the really difficult, hard days, whether it’s in relation to work, my breathing, just anything. If it wasn’t for PHA Canada, I don’t know where I would be as well as without my doctor. I sometimes will say to my husband, “If it wasn’t for my doctor, Dr. Christensen, I’d probably be dead,” because it was him who figured it out. It wasn’t my family doctor. It was my family doctor who said, “It’s your heart, it’s your heart, it’s your heart.” He was the only one that looked at me like a normal person, not as an overweight person, not as a female, not as somebody who’s all in our head. He actually listened and he knew. To me, without those two, Dr. Christensen and PHA Canada, I would probably be dead. Even just the overwhelming grief that comes with knowing that you’ve been diagnosed with a disease that you’re going to die from, and knowing that in the back of your head and having to deal with everything that comes with that is scary. But without those people, I don’t think I’d be here. Things would’ve been too tough. This disease is very challenging on multiple aspects of it and in multiple areas, whether it’s mental health or just with your actual physical health. Knowing that even though you’re taking the meds, I’m not going to get better. I’m going to actually over time probably get worse. So even though we’re trying the meds I’m on now, I spoke to him a little while ago and he says, well, we’re going to try the new medication that’s out, but we have to wait until we get approved. I think for me it’s the actual breathing and knowing that it’s only going to get worse, but then also having to deal with that mentally, being scared of when it does get worse. What’s my life going to be like when it gets worse? Am I going to have to stop working? Am I going to lose more friends? Am I going to lose family members, because they think I’m just faking not being able to breathe? I think it’s everything about this disease, but having the supports there from PHA Canada and from Dr. Christensen, that helps so much, because you know are not alone. There are people out there that understand you and can appreciate what you’re going through and help you get through that. Having someone who knows what you’re going through is extremely helpful. When first diagnosed, I heard the statistics is one in a hundred thousand, so you know that there has to be other people out there, but you have no way of knowing who those other people are. You have no way of knowing if you’re all alone right now, and if anyone is anywhere near you that you can talk to about what I’m going through is normal. Now, every person’s journey is different, but I think some of the same things apply to everyone. Everyone struggles with the breathing aspect. Is it normal that on these new meds that I still can’t breathe perfectly? That’s a question I had. I had at that time no one to ask that question to, and I didn’t want to appear stupid or dumb in front of my doctor. No one wants to do that. So, it’s like a question of, well, do I look stupid by asking my doctor is this normal, or is there someone around me that I can ask and not look stupid? On the medication I thought, great, I’m going to be able to breathe. But then to know that you’re not, but then to have that person there tell you that’s normal. It’s normal that your fingertips might still be blue. It’s normal that you’re going to struggle some days harder than most. At the PHA conference in 2024, it was in Calgary and I live in a prairie province. It’s very flat, very cold in the winter. Traveling to Calgary which has a lot of mountains and is very high up, I was worried about breathing. To be able to talk to my PHA buddy and PHA Canada and my doctor, they were able to tell me, it’s going to be okay. We’ll give you a little bit of supplemental oxygen and you’re going to be okay. But those are questions that if you’re all alone and don’t have that support system, you’re not going to know. You’re not going to have those answers, and it’s going to further put you, I feel, in a depression that you can’t climb out of without the support. For me, I’m hoping to be able to help other people because, in our province, there’s not a lot out there for people who have been diagnosed. What gets me going every day is knowing that I’m working with my PHA buddy and we want to set up a support group in our province to be able to help other people through this is what gets me going every day. Knowing that there are people out there that have been 20 years, even 10 years, my PHA Buddy’s been nine years. I know I’m not going to die necessarily tomorrow, and that makes me feel really good knowing that that’s not going to happen. To me, I’m still young. I’m only 50. I was diagnosed when I was 48. Knowing that I’m not going to die tomorrow is wonderful, because you do get that scary feeling. Like if you Google it at seven to 10 years. Well, I don’t want to die before I’m like 60. No one wants to die that early. Some people won’t live that long. But knowing that there are people that have is very encouraging and gives you hope, and hope is all you have to fight this disease some days it seems. Yeah, hope is important. I really hope that recording these messages helps a lot of other people. I know that there’s got to be people with PH out there that don’t live anywhere near a center, but maybe can listen to your podcast and get some sense of I’m not alone. There are other people who are out there in this world that are suffering, but hearing these words can offer them some encouragement. My name is Tanya Stinson, and I’m aware that I’m rare. Learn more about pulmonary hypertension trials at . Engage for a cure: #phaware Share your story: Like, Subscribe and Follow us: . /episode/index/show/phawarepodcast/id/33946502

Episode 499 - Tanya Stinson 12/16/2024

Hall Skaara (Bel Air Center) - phaware® interview 498 12/10/2024

Hall Skaara (Bel Air Center) - phaware® interview 498 Hall Skaara, a resilient PH patient and founder of the Norwegian Association for Pulmonary Hypertension, recounts his 19-year journey living with idiopathic pulmonary hypertension. He shares how he transformed the challenges of the pandemic into an innovative opportunity by helping create the , a virtual global PH community space. The Bel Air Center aims to foster global connections, support, and resources for patients, caregivers, and healthcare professionals. My name is Hall Skaara. I am a patient. I was diagnosed with idiopathic pulmonary hypertension in 2005. So, I've been living 19 years with this disease, still doing very well. I founded the , because there was no association in Norway when I was diagnosed. Later, we became part of the European Umbrella Association. I started working more for them. Somebody else took over the Norwegian Association. Today, I do project work with . One of the exciting projects that I'm working on is something called the . This is a virtual PH community that we have created. Let me tell you about the name, first. Bel Air Hotel was a hotel we used to meet once a year outside Barcelona. Then, we had the pandemic, and we could not meet anymore. We thought, we need to meet virtually. We contacted a company that designed a virtual hotel for us. We made it into a virtual conference center. Here, we had our annual meeting with our general assembly meeting. We had the presentations, etc. Once the pandemic was over, we thought this was way too good to just scrap. So, we kept it and we developed it further. We removed all links to PHA Europe from it, because we want this to be a global PH community center not linked to any specific association. When you log in, you walk into a lobby in a hotel. I'm actually there to greet you as the receptionist. You can send me messages and ask me questions. Then, you move from the lobby into different areas of the hotel. We have an exhibition area for all the associations. So, each association in PHA Europe, but also other associations around the world that would like have a booth. In these booths, they have information about themselves. They can have videos. They can have documents that are uploaded. They can have links to their webpages, etc. Also, we have an exhibition area for pharma companies that work in the field of PH. You can go into their booth and see information about their products and about their company. We have live session room, where you can watch live sessions related to PH. Once the session is over, we put the recording into a recorded presentation room. Here, you can search for all these presentations by keywords. You can search by presenter name, etc. It's very easy to find a presentation that is fitting for you. We try to subtitle presentations there, but also we utilize dubbing. We use artificial intelligence technology to dub, so that the person who is presenting in English can speak Spanish or Chinese or any language. At the moment, we have Spanish, German and Croatian dubbing in there, but we can do much more. This is a little up to what the community wants and requests. We have an art room where PH patients and PH doctors have a provided us with art. You walk through a gallery and you can see artwork on the wall, and also videos. For instance, we have a PH doctor that plays piano. You can see this as an artwork on the wall. Then we have a social area where you can meet other people who are logged on to this virtual center. You can chat with them or you can have video calls with them. Also, you can be invited to meetings with other people there. For instance, after you've gone to a presentation, you can go to a social area, meet with other people that have been at the presentation, and discuss the presentation in there. We have an area for podcasts, and this is where phaware have provided us with all their podcasts. So this is a great resource for PH patients, carers and doctors. We have made this open to anyone. Anyone can create an account. You do this by going to . We've made this open to associations, too. They can create accounts in there as well as stands where they talk about their association. We have stands from all over the world. We have Japan, China, Canada, USA, most European countries, Nigeria from Africa and so on. We had our grand opening at the beginning of the year in 2024. We have had a steady increase in the number of people that joined this community. We hope to continue growing the numbers. Not only are patients welcome, but also carers, healthcare professionals, etc. We would welcome even more participants from the medical community and associations to join and make stands. Also, pharma companies. We hope to make this the leading virtual PH platform for pulmonary hypertension. My name is Hall Skaara, and I'm aware that I'm rare. Learn more about pulmonary hypertension trials at . Engage for a cure: #phaware Share your story: Like, Subscribe and Follow us: . /episode/index/show/phawarepodcast/id/33946442

Episode 498 - Hall Skaara (Bel Air Center) 12/09/2024

Cynthia Neilson - phaware® interview 497 12/03/2024

Cynthia Neilson - phaware® interview 497 Cynthia Neilson shares her journey as a mother raising her daughter Claire, who was diagnosed with pulmonary arterial hypertension (PAH) at a young age. Cynthia recounts the challenges she faced navigating the medical system, the emotional toll of dealing with an unexpected diagnosis, and the difficulties of balancing family life while ensuring her daughter received the best possible care. Cynthia emphasizes the value of connection, resilience, and advocacy for families dealing with rare diseases. My name is Cynthia Neilson. I live in Toronto Ontario, and I've been there 20 years now. I've raised two kids there. I have an older daughter, Claire, who's 14 and I have a son, Owen, who's 10. My daughter was diagnosed when she was two. I really didn't have any connection or any knowledge of the disease, who to connect with, contacts, etc. I got involved with the Patient and Family Advisory Committee at Sick Kids Hospital in Toronto, which was great. I got to meet other families, but unfortunately I'm the only PH parent on the Advisory Council, because as you know, PH is a rare disease. I really enjoyed that sort of connection with other parents. Then, about a year ago I learned about the Pulmonary Hypertension Association of Canada. I was really interested in learning more and there was an opportunity to join the board. So I did that, which was great. That's been a really fantastic opportunity to meet other families who have varying types of PH. I always in my gut knew something about her was not right, but I was a first-time mom, doctors know best, et cetera. So, I sort of ignored that inner voice. Then, I took her to emerge for an earache. I had a med student examine her and they said, “Oh, her heart sounds sort of strange.” So, we went to and had an echo done. Sure enough, the tech said, “Oh, well, obviously she has a really large hole in her heart.” This was the first time that I had ever heard anything like that. I said, “No, I actually have no idea.” You could see this tech's face sort of go pure white and leave the room sort of suddenly. From there, it was a very quick referral into Sick Kids, where she was formally diagnosed, I don't know, probably like two weeks later. Everything moved really quickly. Then, we joined that clinic. They wanted to close the hole in her heart first, but the pressures in her heart and lungs were too high. We decided to wait a year and put her on oral medication and oxygen to hope that we could get some of those pressures to come down to do the surgery. A year later, she had an open-heart surgery. They repaired the ventricular septal defect. It was a pretty rough road. We were in the hospital for a long time and there was some complications, but unfortunately the PAH didn't resolve itself and we were looking down the path of what does the life look like with PAH? We got really involved in the hospital. As I said, I joined the patient and family advisory group. We used child life support. We just sort of figured it out our way. It wasn't the easiest path. Fortunately for me, I have a very healthy family. I've never had really anyone in my family that has chronic disease. I'm not sick myself. All of this was really new territory. I had just gotten pregnant with my second. I was going through this time of surgery being pregnant, which was also sort of an emotional rollercoaster, which didn't make things much easier. About six months before I was pregnant with my son, I had a miscarriage. At that point, I started questioning like, “Oh, is this because I have a daughter who has PAH? What's going on?” When I got pregnant with my son, we did do some fetal echo ultrasounds and some genetic testing just to see there was no sort of predisposed conditions, underlying conditions, et cetera. There wasn’t. I think the miscarriage was just an unfortunate, unrelated event and my son is healthy and does not have any sort of health conditions. We were fortunate that that was the case. But we did do a bit of investigation, because I was anxious. I wasn't confident that I could take care of a child with complex medical needs and then having another child potentially sick. I was still a fairly new parent. Obviously, my husband's hugely supportive and we were in it together, but it's still not easy. Neither of us grew up in Toronto, so we had no family support close by. My family's about four and a half hours away and my husband's is about three hours. It was a trying time when I look back, dark days. So she went to preschool. Both my husband and I work full time and that was sort of post-surgery. That was fairly smooth. By that point, she was getting ready to go to school. I would say the transition to school was a little bit rocky in the beginning. Claire, at that age, was still napping. She was much more tired than other kids. So, trying to negotiate with kindergarten teachers that she still needs a nap, they wanted her to go into a preschool room. Some of that when she was in the earlier years was a little bit trickier, but fortunately for us, she's more tired and can't sort of play as hard as the other kids. Physically, she's actually quite capable of a lot. In those early years through school, we actually had few concerns or issues with her being able to do what other kids were doing. She had to take medication at lunchtime, but I think there is a lot of kids who take a lot of different medication. That's pretty normalized in the school system now. As she got to grades 5, 6, 7, it became a period of time where she started identifying that she had some limitations. She couldn't run as fast, wasn't playing soccer, et cetera. It became a little bit harder. She started asking questions. As much as she knew as she had a hole in her heart, the doctor sewed it up and now she's better. She just takes medication to keep her better. I think that was sort of the age-appropriate conversations we had had. But by this time, she's starting to ask questions like, I'm still taking oxygen at night and like, oh, now I have another new medication and I'm tired and what is going on? I think that made things a little bit harder to just have some of those conversations. I would say that for the most part the teachers have been pretty responsive. I do an annual meet with the teachers, the gym teacher to say, when you say keep running and she stops, you can't be yelling in her face to keep running. Some of those conversations. For the most part, it's been pretty straightforward and easy. If I fast-forward to today, she started high school. I think the game is changing a little bit. I think with high school kids are just exposed to more, whether it's vaping, smoking, edibles, alcohol, et cetera. We're having to have some of those conversations around what is an issue. I mean, all of those things are an issue for everyone, don't get me wrong, but I think with someone with PH, inhaling smoke, it's a bit of a different game. I think having some of those conversations has been a learning curve for sure. One of the things we also tried to navigate was trying to keep her in activities and doing things like her friends and not being different but still being able to manage it. A good example is summer camp. She wants to go to summer camp like every kid. Day camps were never an issue. Once she got older, she wanted to do overnight camp. Overnight camps that allow oxygen are a few and far between. I must have called, I don't know, 10 camps and only one would allow us to bring oxygen. It was great, but she was the first time in the history of this camp that's been in existence for a hundred years that's had someone use oxygen or bring oxygen. So again, it's making sure that she has the right tools to be able to talk to her cabin mates about why she needs the bottom bunk, why she needs an extra plug. I think it's just trying to get her to a place where we can kind of shift some of that sort of conversational responsibility away from us and to her and that's a hard space to be I think right now. This particular camp that we ended up going to does have a full-time doctor and nurses on staff that are there 24 hours. They obviously have electricity in the cabins and were frankly quite accommodating. It was good. It's been a really good experience. She's gone for the last three years, but it's a really expensive camp. We're fortunate we can afford to send her there, but lots of parents can't do that. I think about what are the opportunities for those kids and being able to have some of those experiences? Fortunately for us, we've always had a very sort of open relationship with Claire. So no question's a bad question. She's just coming to us and still having those conversations. I'm really happy about that, because I think otherwise I don't even know if I would really know at what point I'm having what conversations. She was very open about is it safe for me to vape? Can I drink alcohol? We were able to give her lots of great... well, what I think is great advice, at least health advice. But I think some of those conversations, I don't know, I think are just going to evolve and I'm just going to keep my fingers crossed that she just keeps asking the questions. I think we're lucky Claire has had the same nurse practitioner her entire life, so it's definitely a safe space where the two of them can have a conversation and she can ask all the questions she needs to. I think we also rely on mental health support in the community. Having a person that she can connect to that's not one of us, and ask these questions, allowing her to have that space, as well, hopefully will mitigate some of these issues as they come up. There's no rule book to raising kids, whether it's a kid with PAH or a perfectly healthy kid. I think parents just have to kind of go with the flow and deal with what comes. PAH is a rare disease and the social networks are not like some of the other chronic diseases. I finally came to a place that I was ready to connect with other people who are living the same experience as me. Visibly, Claire looks like she's not sick. PAH can be a very invisible disease or an extremely visible disease depending on the severity. I was very worried that coming to some of these events or conferences or getting involved, it would be a look into my future and thinking this is what Claire's future holds. Very much keeping her protected from the community as well because I was she'd have the exact same experience. I remember when Claire was about five years old, I went to a provincial conference that was held. It was all heart conditions. I went and I saw all these visibly sick children and I had to leave right away. I said to my husband, “I will never set foot in another one of these places again. I just can't see this.” I think with time, actually getting involved in the community has just raised my level of awareness and understanding that I think I'm just ready. It just took me a while. I think I also came to the realization that Claire is now the age that she needs to make these decisions. Maybe for her actually connecting with kids who have something similar to her is quite therapeutic. I have up to this point made that decision for her, but it's time. She's older. I think that was part of it. I've been so fortunate. Our medical team and the community has been so great that it's just another way to give back. If my story or my advice or even just being there for someone else can provide support, then I'd love to be able to do that for someone else or another family. My name is Cynthia Neilson and I'm aware that my daughter is rare. Learn more about pulmonary hypertension trials at . Engage for a cure: #phaware Share your story: Like, Subscribe and Follow us: . /episode/index/show/phawarepodcast/id/33946392

Episode 497 - Cynthia Neilson 12/02/2024

Natalie Roy - phaware® interview 496 11/26/2024

Natalie Roy - phaware® interview 496 Natalie Roy is a double lung transplant survivor living in Canada. She was diagnosed with pulmonary arterial hypertension (PAH) in 2005 and received her transplant in 2017. . After her successful transplant seven years ago, Natalie experienced a difficult initial recovery but felt amazing once she started healing. The first two years were cautious, but she was able to achieve many milestones she never thought possible, including getting married, playing sports, and changing careers. My name’s Natalie Roy and I’m living in Victoria, BC, Canada. I am a double lung transplant survivor. I was diagnosed with pulmonary arterial hypertension in 2005, and I received my double lung transplant in 2017. I did this podcast shortly after my transplant about six years ago, and I just celebrated my 40th birthday and have celebrated my seven-year lungaversary. I started fainting out of nowhere when I was about 19 and was diagnosed in the emergency room in Vancouver. I was diagnosed with idiopathic pulmonary hypertension at the ripe age of 20 and started oral treatment and did quite well with that right up until about 2010. My disease started to progress and I went on subcu Remodulin. Shortly after that, I transitioned to IV Remodulin and had that journey for about five years and slowly declined and was listed for transplant in 2015. I did wait for about 19 months for my transplant and got to experience a dry run. For people who don’t know, that is when they call you and tell you that they have lungs for you and prep you for surgery and you discover that your lungs aren’t viable and they send you home. That was quite the experience. I did quite well on my oral medication for many years. I was a chef for about 13 years. Just before I got listed for transplant, I worked pretty much my whole diagnosis. I did quite well on treatment. I participated in a lot of support groups. I found a lot of community amongst other patients in the PH world. I don’t think I would’ve survived without many of the other patients throughout Canada and the world. I think that community is really important when you are suffering. It wasn’t until I started Remodulin that I actually really, I think that was the grieving process actually really hit me square in the jaw. I was like, “Wow, I’m really sick. I am connected now to a device 24 hours a day and I need support.” That’s when I reached out and found the local support group in Calgary at the time. I was surprised with how almost desperate I was for that connection when I went to my first meeting. I didn’t realize how isolated I actually was and I was just kind of going through the motions and kind of really just living my day-to-day in denial of my disease and minimizing it, pushing through, and not really allowing myself to be somebody who was unwell. I think the support groups give you a space where you’re able to connect with other people who actually, obviously, understand what you’re going through. There’s only so much your caretakers and loved ones can relate. They sit beside you, but they don’t experience it with you. The online is amazing, but if you can find other people in person, I think there is something really beautiful to going and grabbing a coffee with somebody or talking on the phone or meeting up with somebody. I did run the one in Vancouver with Tarya, which was really amazing, and that was one of the most enriching experiences that I think that to date I was involved in. I think you need to be prepared to experience somebody else’s grief, that is part of showing up and holding space for somebody else and meeting somebody where they’re at, because somebody who potentially isn’t as progressed or as sick as you are, it could impact them. They might not be able to cope with it in a way that you’re able to cope with it. That was one of the things that I did notice, was that everybody has different coping levels. What you go through in your life, how you cope, how you move through things, some people haven’t gone through a lot of hardships in their lives and they get diagnosed with this disease out of nowhere and it completely rocks their world and they do not know how to manage. They find these support groups and they go there and their emotions are very big. I think that’s part of the rooms and part of the experience. If you are an empath or if you’re somebody who is sensitive, I think you do leave those rooms feeling quite exhausted. When you only have so many spoons, you definitely walk away feeling quite tired. When I got the call for the dry run, I was absolutely terrified and not ready. Sitting, waiting outside of the OR and I realized that it was a dry run, I felt extreme relief. When I was able to go home to my dog and eat a sandwich and go to bed, I was like, “whew.” I was very devastated the next day when I had to wake up and I had to mix my meds and I had to live life unwell and hooked up to a machine and my line got infected and I just had to continue on living life with PH and being sick. But by the time that I actually got the call from my lungs, I was ready. I felt safe and I felt cared for, and I think that was part of it. For me, I had always told myself like, “No matter what,” and I think I said this in my last interview, “do it scared. If it’s your choice, doesn’t matter. If you’re scared, do it anyways.” Just get in there and do it, because it is honestly the best gift I’ve ever received in my life. My initial recovery was quite difficult. I was in the hospital for about two months, but once I started recovering, that was it. I just wanted to live and my body wanted to live, and I felt amazing almost immediately. I was up and moving and working and back in the world. I think the first two years, if I’m being realistic, were cautious. I followed all the rules. I had a few bumps. There was a few complications. My donor lungs had a few issues. I had to do a few treatments along the way, but for the most part, I think for anybody who has been quite sick and has progressively gotten more and more ill, you can’t compare. Once you have the opportunity to take full breaths and you’re not in chronic fatigue and you’re not actively dying, no matter what you have, it’s no problem. You’re up, you’re moving, and you can push through it. When I’m asked like, “Oh, how was it?” I can’t even remember what complications or what issues I had. I actually can’t remember, because it really feels like it wasn’t a big deal. It just really was such a blessing and such an honor. I got married. I’m learning how to drive. I moved to cities. I’m doing things in my life that I didn’t ever think I would accomplish. I hit a milestone, which was turning 40. That alone feels like such a privilege. I think aging for people who are chronically ill is such a privilege. There’s so many things that have happened in the last seven years. I mean, every year, I think because my lungaversary and my birthday are a week apart, not even they’re a couple days apart, that it’s such a tender space for me and it’s such a dual celebration. It’s definitely a big honor to be aging. Every year, another year with my lungs, another year on this planet, another year celebrating and living and embracing life for whatever it is. Even the mundane stuff just feels like the best stuff. For instance, when we got married, it was like I was having before my transplant, we were having this huge wedding, everybody was invited. I had this whole thing planned out. Then, I had my transplant and I was like, “No.” We eloped. It was my husband, it was me, it was my best friend, and that was it. We were in the forest. I didn’t want anything else. It was interesting how before everything had to be big, involved, passionate, intentional. I absolutely live my life with intention now, that is the name of the game, but I feel like there was a desperation attached to everything I did before. Now, there is an ease, if that makes sense. What I get to experience now, even if it’s a fraction of what I tried to cram in before is enough based on the quality of my life. It doesn’t matter how much I get to do now, it’s how good it feels. Right now, I changed careers, so that’s been very all-encompassing. I went from working as a chef and now I am working in a corporate office. That’s been overwhelming at times. I feel like an imposter coming from somebody who couldn’t walk from the bed to the bathroom. Now, I’m running a little financial center and that feels strange to me, and sometimes I’m like, “How did I get here?” So I feel like that at the moment is like I am upgrading my education, which wasn’t an option for me. Yeah, right now I’m 40, but I feel like I got sick so young and then I was sick for 19 years. I got diagnosed 19 years ago, so a big chunk of my life was being chronically ill. I wasn’t able to make plans for myself, because my body was like, “No, we don’t get to do that.” Anytime I tried to make plans for myself, I would get unwell or something would shift and it just wasn’t feasible. So right now, I am working. Right now I’m trying to upgrade my education. We are buying our first vehicle and we joined a softball league. Who does that? I joined a softball league and played a season, and we got third. We went to the playoffs. I did a sport. I’ve never played a sport in my life. I’ve been sick forever. Those little things. So yeah, I don’t really have any plans. I really am just going with the flow, but the flow feels pretty good. I stayed connected to the PH community throughout. I didn’t lose touch at all. I do feel like I didn’t stay as closely connected as I wanted to. Going to the this year reconnected me closer, which felt really good. I have linked back in a little bit closer. I’ve joined their support group, so I’ll be going to that. I have my friends in the community and keep in close contact with them, but I really would like to do a little more volunteer work. I’d like to participate a little bit more in what they got going on with , but I feel like that’s where I want to put my energy moving forward, because that’s where I have the energy to do it. I had a hard time where I had identity crisis because I didn’t know where I fit into the community anymore after my transplant. What I did feel going to the conference this year and the feedback I did get was, “It’s really nice to see you here,” because a lot of transplant patients kind of move on with their life and they don’t really stick around, which is a beautiful thing, you go live your life. But those people saved my life and kept me alive and filled my cup and continue to do so. They are a family to me. I want to do a little bit more where I can. My name is Natalie Roy, and I’m aware that I’m rare. Learn more about pulmonary hypertension trials at . Engage for a cure: #phaware Share your story: Like, Subscribe and Follow us: . /episode/index/show/phawarepodcast/id/33692787

Episode 496 - Natalie Roy 11/25/2024

Maureen Harper - phaware® interview 495 11/19/2024

Maureen Harper - phaware® interview 495 Maureen Harper, a CTEPH patient from Canada, shares her journey with this rare condition. She initially thought she had an infection in her leg, but further tests revealed enlarged pulmonary arteries and multiple blood clots in her lungs. After being diagnosed with pulmonary hypertension, she underwent a complex surgery in Toronto to attempt to remove the clots. Maureen continues to work full-time as a pharmacy technician, remains active with her family and Girl Guide unit, and maintains a positive outlook, choosing to focus on the positives rather than dwell on the negatives. I am Maureen Harper, and I’m from Olds, Alberta and I’m a CTEPH patient. I had a lump on the front of my leg, on my shin. It looked like an infection, so the doctors put me on antibiotics. So I did six weeks of oral antibiotics, six days of IV antibiotics, and it kept growing. They decided it was not an infection, so they sent me to a dermatologist. The dermatologist was like, “Well, that’s weird.” And by this point, of course the lump is gone because that was six months later. So, he’s like, “I think it might be something else.” He sent me for an X-ray. The X-ray showed I had an enlarged pulmonary trunk, so he’s like, “Oh, you’re not mine.” He sent me to a cardiologist. The cardiologist put me on the treadmill to do a stress test, and my heart did great and my oxygen just kept dropping and dropping and dropping. So, they pulled me off the treadmill and I’m like, “Just give me a minute. I recover really quick. I can pop back on and we can finish this. She’s like, “No, no, you can’t.” The cardiologist was like, “Wow, that’s weird. Let’s do a V/Q scan and just rule out pulmonary embolism, so make sure you don’t have blood clots in your lungs.” We went into the V/Q scan. My husband and I were sitting there together and we’re waiting for results. They’re like, “Yeah, the radiologist wanted to talk to you. We’re going to move you to this waiting room.” They moved us to a waiting room by ourselves. Then, some other people got moved into our waiting room. They moved us to another waiting room, and some more people got added to that waiting room. So, they moved us to a third waiting room. I looked at my husband and went, “Something’s wrong.” He was like, “What do you mean?” I’m said, “They just keep putting us in waiting rooms by ourselves.” He was like, “Oh.” The radiologist came out and said, “So you’ve got embolisms in your lungs and a lot. How are you feeling?” I’m like, “Fine.” I got to go see my cardiologist. He said, “Yeah, you’re not my patient. We need to treat you now.” He put me on a blood thinner and said, “You need to see a pulmonologist.” That’s how I ended up in the PH clinic. I had one meeting with them and they immediately wanted to do a right heart cath to see what was going on. I was diagnosed with pulmonary hypertension. Then, a little while later, we did some more testing and that’s when we figured out it was CTEPH. My doctor in Calgary actually didn’t think I would qualify for the surgery, just where all my clots and stuff were, but they sent my stuff off to Toronto anyway. It came back saying, yeah, they think they could help. I was originally booked into surgery at the end of August. I’m said, “Oh my God, I can’t do the end of August.” My daughters had just graduated. They were starting college, and I’m like, “They can’t start college without mom.” I still need to be there in case they need some support or the paperwork didn’t go through or whatever. So, we bumped it until October. It all kind of goes really quickly. You get flown out to Toronto from Alberta, and we flew out Friday, spent Friday night in a hotel. Saturday, I got admitted into the hospital to start heparin therapy and blood thinning therapy to help make sure I’m safe for surgery. I was there Saturday and Sunday. Monday morning around 6:30, they came in and said, “It’s time to go.” They roll you down. The surgery eight to nine hours. Then, you’re sedated for 24 hours just to give your body a chance to recover. My husband did not enjoy that 24-hour period. I did not wake up from sedation really well. They took three different tries to get me to wake up. Then, you start the recovery process. We were in Toronto for nine days, flew home. I did really well for the first week or so, and then my daughter came home from work one day and looked at me and said, “Mom, you don’t look very good.” I said, “I don’t feel very good.” I’ve got a headache, and I’m just off. She said, “All right, let’s go.” She packed me off to the hospital and they took one look at me, went, “Well, get comfy, you’re staying.” We were in a small hospital. I spent a week there and came home for a couple of days and got sick again. That’s when I ended up in the Peter Lougheed for a week. It was a bit of a bumpy ride, but at least I was home for the bumpy part of it. The part in Toronto went pretty smooth. After we did the couple of weeks in and out of hospitals, I actually did really well. I was still working. I worked through the entire process. I would work an eight hour a day and then I could walk four kilometers at night. I was feeling great and doing really well for about 18 months, and then I couldn’t walk anymore. They did another right heart cath and discovered that my pressures actually had gone up and instead of CTEPH being a cure for me, they were able to get out the big clots, but there’s a bunch of little clots that are very distal, so very deep in my lungs, and they couldn’t get to those. So, those ones get to stay, and I still get to have CTEPH. Medically, they called the surgery unsuccessful. My husband and I kind of batted that around a little bit, and he said, “It wasn’t unsuccessful. They took out massive clots out of your lungs.” Even though my lung didn’t improve and doesn’t work like it’s supposed to, at least those clots are out of there. So, I might still have little ones all through, but I still have less clot that’s in there. My angiogram before surgery and post-surgery, according to my doctor, looked pretty much the same, so it really didn’t make any difference to my lungs, but at least I’m not fighting the extra clots that were in there. Medically going forward, I am on oxygen therapy. I’m on Adempas, which is made specifically for CTEPH, and I’m on ambrisentan, which also works for PH. We’re just trying to see if we can figure out a way to figure out my symptoms versus what my blood work says. My blood work says I’m doing real good, but going for a walk says I’m not doing real good. So not much changed in my life. I work a 40-hour work week. I’m a pharmacy technician, so I’m on my feet all day in a very busy pharmacy. I have three kids. They’re all technically grown-ups now. Then, I have a Girl Guide unit and we do crafts and activities. We go to camps and do everything all the other Girl Guide units can do, and we just kind of keep carrying on like we normally would. If I’m taking my Girl Guides camp or anything, we go on hikes. Previously, I was able to carry my tank in a backpack, because I didn’t need as much oxygen as I do now. Now, I have my tanks in a rolly cart and it just rolls behind me. We start at the beginning of the year with, “This is my friend, I call him Big Tom.” He comes everywhere with us and he helps me breathe, and they don’t bat an eye at it. Hopefully, from that what they learn is people with disabilities can do stuff too. There’s nothing holding us back. We can do whatever we want. I guess it was never an option for me that I wouldn’t continue working. I’ve always worked my whole life. The company I was with, I’d been with for many, many years when I got diagnosed. I’d been there about 11 years when I got diagnosed. My pharmacy team and my owner were fantastic and wanted to know what they could do to help. For a lot of the time, it didn’t make any difference. I pop a couple pills a day and they don’t know about it or they don’t do anything about it. As things have progressed, it has changed. I took time off to go for surgery and stuff like that. Then, when I got put on oxygen, we put a concentrator in the pharmacy and ran tubing. Then, when I could go to a tank, which was easier, I put it in a backpack and I carried it in a backpack and COVID had hit. So when I got put on oxygen, I was wearing a mask. I wear my tubing down my front because I trip on it because I’m a bit of a klutz. Lots of customers didn’t even know I was on oxygen until we stopped wearing masks a couple of years ago. Then, they were all really surprised to see that that’s what I had been doing, but to me, it was never an option to quit, because I didn’t feel sick enough that I needed to quit. As a support team, I’ve got my husband and I’ve got my three kids and they’ve always got my back. They’ll do whatever I need. If I can’t carry something, then they carry it for me. When I was using tanks at work, my son would bring my extra tanks in, so there was always tanks there for me to switch out. I’ve been a part of since probably 2018 or so, but I felt like a lot of those people were sicker than I was. I didn’t need their support or it felt like I didn’t need their support. I was always kind of in the background on the Facebook group, just kind of chilling and reading. Most of the people weren’t working and most of the people were having a lot of issues and I wasn’t, so I didn’t feel like I needed the extra support that they had. I’ve always been a busy person, and I find if you’re busy, then you don’t have time to kind of dwell on the what ifs. PH is not my only chronic condition. I had brain surgery 10 years ago. If you Google the stuff, if you look it up online, it’s terrifying. In my brain surgery group, everybody’s terrified of dying on the table and I’m like, “Oh, that didn’t even really dawn on me, because I trust my surgeons.” So through the brain surgery, through the lung surgery, neither time did it dawn on me or did I dwell on the fact that this is a life-threatening surgery, I could die on it. During the CTEPH surgery, the PTE surgery, they actually stop your heart and your lungs quite a few times as they clean out the clots, so you’re technically dead on the table, because there’s nothing flowing through your system. But I didn’t look at it that way. Somebody else told me, “You’re dead on the table.” And I’m like, “What? No, no, they’re just busy working. They just need a clean field.” It’s all mentally how you look at it. As a pharmacy technician, in the medical field a bit, I have some more knowledge than maybe the average person, so it didn’t scare me as much as some other people who are maybe not in the field. I’ve dealt with a lot of negative people in my life, so I find that you can get up every morning and choose to be happy or you can choose to be miserable. I just choose to be happy. I’m always kind of trying to look for the happy outcomes or the happy side of things in order to keep things positive. If you choose to be miserable, you can have a really miserable life, but I’ve decided to be happy and try to find the positive in everything. I’m Maureen Harper and I’m aware that I’m rare. Learn more about pulmonary hypertension trials at . Engage for a cure: #phaware Share your story: Like, Subscribe and Follow us: . /episode/index/show/phawarepodcast/id/33692742

Episode 495 - Maureen Harper 11/18/2024

Lynette Chambers - phaware® interview 494 11/12/2024

Lynette Chambers - phaware® interview 494 Lynette Chambers, a 9-year PAH (pulmonary arterial hypertension) patient, has also been diagnosed with pulmonary fibrosis (PF). She shares her journey, from struggling with daily activities to being admitted to the hospital with severely low oxygen levels. Lynette discusses the emotional challenges of facing a terminal illness and the difficulty of balancing work and family time. Despite the hard reality, Lynette emphasizes the importance of gratitude, making others feel better, and being the best version of oneself. She finds strength in her family, especially her grandchildren, and strives to create lasting memories and make a positive impact on those around her. My name is Lynette Chambers. I’ve been diagnosed for nine years now. I was in the hospital with congestive heart failure and they did a whole bunch of tests and decided that I had PAH. So, I’ve been going through a journey with congestive heart failure and PAH. Now, nine years later, I’ve been diagnosed with pulmonary fibrosis. I was at work, I was running a swimming pool company. I was running around getting stock and dealing with clients and stuff, and I was finding that I was really short of breath. After I was done talking to a person, it was like, I can’t get a full breath. For me, it was really scary because I thought there’s something wrong that I can’t breathe. Then, I went home, I could breathe fine. I drove home. Then, I got out of the car and went to walk up to the house. I couldn’t walk all the way up our sidewalk, which is like maybe 10 feet from the car to the house. I would have to stop, take a breath, go up our four stairs, stop, take a breath, and then go in the house and sit on the couch and try and recuperate. As the days went on, it just got harder and harder and became a lot more evident that I can’t lift stock, I can’t run from one end of the store to the other. I would recuperate on the drive home. Once I got there, I couldn’t make it into the house. It wasn’t a fluid motion. I went, okay, there’s something really wrong. I’ve always been active. I’d always taken my kids camping, done all kinds of things, water-skiing, downhill skiing. I couldn’t do any of that. I was just so fatigued the whole time. So, I went, no, there’s something going on here. I had a shower and I couldn’t get out of the shower. I had to sit on the edge of the tub. Then I got to where I felt a little bit better and I decided, no, I better go in. I went into the hospital. My oxygen level was at 48% and my heart rate was 174 over 94. So they went, “Okay, you’re admitted and that’s where you’re staying.” I was admitted into St. Boniface Hospital for two and a half weeks, while they tried to figure out what was going on. That’s when they did all the tests. At first they said, “No, it’s just congestive heart failure.” Then, they went, “But your oxygen went to 48. So that tells us there’s something in the lungs.” So they started doing more tests, like echocardiogram, all of that. Then, they went, “Okay, this definitely PH,” and that’s where it stayed. I’ve had my cardiologist put me in touch with another doctor who deals with my PAH, and then I have a cardiologist that deals with my heart. Then, I have a respirologist who now diagnosed me with PF after doing a CAT scan. I was in the hospital in and out from December to March five times with what they thought was pneumonia. My respirologist went, “Nobody gets pneumonia five times in a row.” I would go from one med to another. She said, “No, I want a CAT scan of the heart and lungs today.” I got a CAT scan and she phoned me at work and said, “Are you sitting down?” I said, “No, but I’ll take you and I to a boardroom.” So we went to the boardroom and she said, “You have PF.” I said, “Okay, what’s PF?” She said, “It’s pulmonary fibrosis, which is a scarring of the lung tissue, making it harder to breathe and suffocating the lung on its way up.” I said, “Okay, what are we doing?” She said, “Well, I’m not sure yet, because it is terminal. So whatever we do, I want you to understand you’re not going to get better.” I said, “Okay, well, we knew that with PAH.” She said, “No, this one’s different and you’re just going to find it harder and harder to breathe.” So we’re now in the testing process of finding out what meds will work for both or where we’re going to go from here, what tomorrow will look like. When I first was diagnosed with PAH, I thought, “Okay, this is it. I’m done.” But then, I started reading and reading and reading. I heard more stories about people lasting 20, 30 years. That was great. But then when I was told I have PF, and I started looking into that and I asked, “What does that look like?” Because when I was first diagnosed with PAH, my doctor said, “You’re going to be dead in two to five years.” It was left at that. There was no empathy, there was nothing. It was more of a, just so you know. Then, when I got the PF and I started looking, I didn’t find anybody that had had the disease more than seven years. So, then I started in my head going, okay, I have two grandchildren. One turned three and one is six. I’m not going to see them graduate. I’m not going to see them grow up. It’s a reality check and it’s hard, because you want to think, well, I can keep working because I have that energy and I love my job. So you want to keep doing that. But then in the back of your head is how much quality time am I missing with my family by being at work? So it’s a, could I afford to just not work? So there’s this whole piece emotionally where you’re going, what am I missing by doing this? Or what will I miss if I don’t do this? Amazon and I are best friends and I order everything I can, so my grandchildren have everything. Part of that is because I want them to remember me. I want them to know that Ama loves them, and I may not be there in person, but I will always be there. So, yeah, there’s that emotional thing that you do go through. I think when you’re being given a diagnosis of a terminal illness, there’s always that human component of this is your reality. This is where you are at. I have a husband that I love more than anything. I’m not going to get to grow old with him. We think when we get married that that’s why we marry is we’re going to grow old with our best friend and I won’t. It’s a challenge to get up every morning and know today may be your last day. You try not to think that way, and you try and be positive, because I believe positivity creates everything, but it’s really tough to put yourself back in there. I do believe that we’re all born and made for a reason and you do what you can do. I’ve been very blessed through my life. I’ve been a foster parent of 30 kids since I was 19. I have my own biological children and I’ve adopted children, so I’ve been very, very blessed in the life that I have. But it’s still hard to think that it’s going to end and I can’t do more and be more. For me, I need to be more to everyone and do whatever I can. If I can make somebody smile, I will. If I can help out in any way, shape or form, that’s who I am. This disease makes it harder to know that you’re not going to be there to make those changes. You can’t make a difference the way you’re used to. I have learned, and I’m very blessed to have learned this. One of the ladies I worked with said to me, we were talking about gratitude, and she said, “Take 15 minutes a day and write down five things that you’re grateful for. Read that at night before you go to bed. The next day you get up, have your day, take your 15 minutes and write down five things you’re grateful for.” Do you know I’ve been doing that for almost eight months? Not once have I written the same thing twice. You look back at that and you go, wow, look at all of this that I’m grateful for. That makes you go through the next step and go to the next day and see what five things you come up with at the end of that day. My family is my strength. I look at my grandchildren. If you watch the innocence in a child, it’s so amazing. I watch my grandchildren and I listen to them. It makes you want to be better. They make you want to do more, because it’s just so incredible how they look at things. People are arguing and fighting outside, and my granddaughter’s picking flowers. I said, “What are you picking flowers for?” She said, “Maybe they’ll be happy.” She wanted to take these two people flowers. She’s six years old. All she sees is two people who need something. That makes you want to be better. That makes you want to do more, realizing that the smallest token is the largest gift that you can give someone. The most important takeaway for all of us in life is be the best that you can be. Be true to you, but be the best that you can be. If you can say to someone who looks like they’re having a hard day, “I really like that blouse. That’s nice.” They smile and they feel better about themselves. It’s a two-second thing. It doesn’t mean anything to you, but it sure does to the person on the receiving end. I think that that’s the biggest thing for me is you need to try and make everybody feel better. It makes you feel better inside, knowing that you’ve made someone smile. You’ve given someone something to take from their day. If it’s part of their gratitude post, great. If not, better luck next time. My name is Lynette Chambers, and I’m aware that I’m rare. Learn more about pulmonary hypertension trials at . Engage for a cure: #phaware Share your story: Like, Subscribe and Follow us: . /episode/index/show/phawarepodcast/id/33692347

Episode 494 - Lynette Chambers 11/11/2024

John Kingrey, MD and Nicole Fitzgerald - phaware® interview 493 11/05/2024

John Kingrey, MD and Nicole Fitzgerald - phaware® interview 493 John Kingrey, MD, Director of the Pulmonary Hypertension (PH) Center of Oklahoma and PH patient, Nicole Fitzgerald, discuss the importance of the physician-patient relationship as it relates to participation in clinical trials including the Phase 2 TORREY Study (now the Phase 3 ). #GossamerBioPartner #sponsored John Kingrey, MD: My name is John Kingrey. I’m the director of the Pulmonary Hypertension Center at INTEGRIS Health. I’m a pulmonologist in pulmonary hypertension in Oklahoma City. I’ve been involved in pulmonary hypertension starting in the early part of my medical training, and I chose to pursue pulmonary hypertension as a subspecialty within pulmonary medicine and have been doing that ever since. Nicole Fitzgerald: My name is Nicole Fitzgerald. I am 44 years old and I am a pulmonary hypertension patient. I’m originally from Los Angeles, but I currently live in Oklahoma City, where I have lived for the past six years. John Kingrey, MD: Today, we’re going to discuss the importance of the physician-patient relationship as it relates to participation in clinical trials. Clinical trials are an essential part of most fields of medicine, but particularly pulmonary hypertension at this time, because there is so much development of new pathways and new agents that can potentially change the landscape of the disease. At our pulmonary hypertension center, we have typically multiple clinical trials going on at one time. The nature of each clinical trial is a little bit different, and the population that we are investigating is also different, but it’s all centered around patients with pulmonary hypertension. However, it’s really important to understand that clinical trials have a very focused population for which they’re interested in, because they’re trying to investigate whether or not a certain product or a certain device could be effective in this specific disease state that they think that it will work in. Each patient that comes in, in some way, either formally or informally is considered for clinical trials. We know as a center, what our current clinical trial profile looks like and the specific population that could be potential candidates. When I’m in a clinic visit with a patient, I am thinking about what we have potentially to offer them and whether or not they would be a candidate. For a lot of our patients, I know that because of either how long they’ve had the disease or the specific nature of their disease and its severity, they may not be a clinical trial candidate, so it’s not really brought up in many patient encounters. However, when I have a patient that I think may fit one of our clinical trials and I think, more importantly, that it would be a good opportunity that would be of benefit to the patient, then that’s when I will bring that up, usually as part of a typical clinic encounter. Sometimes, depending on the clinical trial, we will have a special visit to discuss a clinical trial opportunity with myself or my partner, to see if the patient would be interested and if they would be a good fit. Nicole Fitzgerald: Because I was diagnosed so quickly before my husband and I had to make a big cross-country move, pulmonary hypertension was something obviously I had never heard of. It just was not even on my radar as something I should even know that this is something that could happen. I just had no idea that it even existed. I would say because we moved so soon after and I was consumed with trying to just find my footing in terms of the move, and then finding the right doctors in Oklahoma, because I had none when I came out here, there was a lot that I was learning to navigate. Obviously, it was a lot of change at once. For a long time, just trying to get myself with the right doctors, having all the right testing done, kind of getting a control on my medicines and what things I should take. Just getting myself stable took a very long time. The first year or so I would say was the most challenging, just because of all the newness and all the adjustments that were being made in my life in general, so it took a lot. I got worse before I got better. So, like I said, just getting stable I would say was my biggest priority for a very long time. It took a while before I started to hear from other patients that there were clinical trials available. Once those opportunities became available to me, that was something that I was very interested in, because I wanted to kind of be as aggressive as possible with treating my PH. Initially, that was not even on my radar. It was just more about getting myself to a point in my health where I was stable and can do normal things, which was a real big challenge for me, especially early on. So, it was primarily online through Facebook support groups for patients with PH. You kind of hear rumblings, just word of mouth of other patients were taking a particular trial, or participating here or there. Questions had been brought up with their physicians wherever they were from. You kind of branch out a little bit to know that there are trials taking place. It wasn’t something where I right away sought that out for myself. For me as a patient, I was just excited that research was being done. I think that’s something that all of us as patients just want to know, that there’s hope out there. I think we get kind of so bogged down in the drugs that we have available to us. There’s only so many and you are put on one thing, and you either respond to it well or you don’t, and then they take you off, and maybe you get put on something else depending on how you’re feeling. So, after a while you just kind of get kind of in that routine, but you want to know that there is hope coming, that there are better drugs coming, that there’s something else out there. So, I think as patients, we’re just all really excited and curious to know that there’s research being done, there’s trials being done. So, that was something exciting that I had heard about online, but it wasn’t anything necessarily specific where I right away brought that up to Dr. Kingrey. That was something that he brought up with me and I’m so happy he did. It worked out well for me in the end. John Kingrey, MD: I think that one thing that’s really important for patients to understand, is that clinical trial work is really, really hard work. The ability to recruit patients for clinical trial takes a lot of effort in identifying the right patient population and identifying patients who are not excluded for a number of many reasons that patients can excluded from trials, and again that they have the right disease state. The next step is finding someone who is willing and open to the concept of a clinical trial. I think that there are a lot of people out there that look at clinical trials as a big risk. A phrase that I hear a lot and I know that other providers hear a lot is, patients say, “Well, am I going to be a Guinea pig?” That is kind of an antiquated way of looking at things, because the clinical trial space is so heavily regulated and protected, even in the hands of a provider who may not be paying it that close of attention to detail. It’s really, really hard to enroll a patient in a clinical trial and have them be subject to a real significant risk, that at least has not been properly spelled out. Many people don’t understand, for example, that when it gets to a phase of clinical trial where human beings are involved, that the medications or the devices, or whatever it might be have been trialed in both animal studies and also in healthy patients that don’t have the disease, just to demonstrate safety. That’s a barrier for some people. I think though, that probably the biggest barrier is the relationship that they have with their physician, because it doesn’t matter if I told a patient that I’ve got a clinical trial in Tylenol that’s been on the market for decades. If they don’t trust me and they don’t have a relationship with me, it’s unlikely that that person’s going to want to be part of a clinical trial. There’s two reasons generally that people end up doing a clinical trial. One is that they look at the potential benefit for their own health, which of course is a huge reason that it exists. The other is because that patient really wants to benefit others who may come after them, who will be suffering from a similar disease and now potentially have a new therapy, because of the way that was laid forward by clinical trial participants. The most important thing that I would say to patients and also to physicians, is if you want to be involved in a clinical trial, and from my standpoint, if you want your patients to be involved, you better know your patients. You better know more than just what’s in black and white. You better have a relationship with them. And if you don’t, it’s going to be really, really hard to bring up a clinical trial that’s going to potentially come across as very scary and very experimental, when in reality there’s a lot of protection built into clinical trials, particularly in the United States, that is squarely focused on protecting the patient. Another element in considering clinical trial participation is making sure that the clinical trial is going to fit within the signature that the patient needs. Another way of saying that is, consideration of participation in clinical trials is really important to tailor the needs of the patient and ensure that the clinical trial fits within the boundaries of what would be an individualized treatment plan. In pulmonary hypertension, for example, we do have some guidelines regarding treatment and how patients should generally be approached. However, it is not cookie cutter. There are several different pathways that patients can go down and arrive at a good outcome, but the considerations of how to get there are variable. They would include patient’s preferences on how they take medicines, patient’s tolerance of certain side effects that certain classes of medications have, the amount of pills that someone needs to take and so forth. So in clinical trial, the point here is, every patient has a very individualized treatment plan, and when we think about what the next thing is that the patient needs, we have to ask ourselves, does any of the clinical trials that I’m offering, assuming that the patient fits the general profile, is that going to be beneficial to them? So, severity of disease is interesting, because some clinical trials exclude patients who are doing too well, others exclude patients who are too sick. You have to be able to take that into account, as to whether or not the medication or the certain application of a medication is handled. We have to be incredibly prescriptive in identifying the right type of patient for the right clinical trial. Another element of this is helping the patient understand where the potential treatment comes into play. Many times, I will have a patient, for example, that comes to me and is doing worse. If I have a clinical trial that that patient would fit, but that particular clinical trial has a study design that is very common, where neither myself nor the patient know if they’re going to get the medication, meaning that it’s placebo-blinded, so it’s a double-blinded placebo trial, and I know that that patient needs more therapy, I don’t feel like it would be ethical. If I have something else to use that I know would help them that would be already on the market, then I’m not going to have that patient be in a clinical trial, where they could be going six or 12 months without getting anything. Or even if they did get the medicine, something that’s clearly under investigation, when I could be reaching into the cupboard and grabbing a medicine that is already available that I know would be immediately beneficial. There are a lot of considerations. That’s just one example. Other things would include patients access to coming to a clinical trial. In Oklahoma City, we have many patients who live hours away from us, and though clinical trials are incredibly good about making sure that the patient doesn’t have out-of-pocket costs for things like travel, it still can be a matter of time not available or reasonable for the patient to do it, because of travel time or perhaps they work and they wouldn’t be able to get off work. So there’s lots of things that have to be under consideration before somebody really is able to fit in a clinical trial. Nicole Fitzgerald: For me, I think a lot of consideration, obviously, was given to my health at the time. During that period, I was a little bit more stable, but not as good as I had been or as I could be. So, it was one of those things where I just kind of fit into a category where it was like, okay, well, I’m not super sick. I’m not as sick as I was initially when I was diagnosed and at various times had been, but I’m also not feeling great. I’m not feeling at my very best. I’m sure I could be doing better. So, it was one of those things where it was like, okay, well, I’m just kind of at a standstill, but not at a place where I am necessarily as good as I want to be. For me, it was obviously interesting to have something that could help me more than I was being helped already. Then, there’s also, as Dr. Kingrey mentioned earlier, you’re in a position where you want to help yourself, but then there’s also that feeling of, okay, well I can do something potentially that can help a lot of other patients. So for me, that’s obviously always a factor. There’s a lot of things that get taken into consideration when you want to participate in a trial. Obviously, you have to meet the criteria of whatever trial you’re participating in. There’s things that involve just your own personal lifestyle, the way that you might administer the medication, how often the trial visits are, Like he mentioned, Oklahoma City, there’s people that live pretty far out. I am fortunate that I live only 20 minutes away from the center where all my trial visits are, so it’s convenient for me, as opposed to other people might have a lot more difficulty just getting back and forth. There are lots of things that factor in, but for me it seemed like it would be a good fit and the time constraints weren’t anything extraordinary. So, it just worked out where I felt like, okay, this is something that could really benefit me, but also potentially help others down the road. John Kingrey, MD: Once a patient is identified as a potential candidate for a clinical trial, that’s just the beginning. Usually the next step is, I will have a conversation with the patient about the opportunity to participate in a clinical trial. With that, will be a general overview of the type of patient that the clinical trial is looking for, which obviously the patient you’re talking to should fit that. Then, I will give an overview of what the general purpose of the trial is and how it’s constructed, in very high level terms, not getting into the nitty-gritty at that point, but just to explain generally what we’re doing. The next thing that I do is if the patient has interest, then, I will talk to my clinical trial coordinator and they will give the patient a phone call. Or, if the coordinator is available, I’ll have them come down to the clinic right there in real time, if both the coordinator and the patient has the time. Either way, there’s a conversation that takes place between the clinical trial coordinator and the patient that involves additional detail to kind of put a little bit more meat on the bones, so to speak. At that point, the patient says, “Yes, I’m really interested in this.” Then, typically the clinical trial coordinator will go through exclusion and inclusion criteria to make sure that the patient is the right fit. Sometimes that happens independently. Sometimes the clinical trial coordinator will have questions, and they will come to me and we’ll make sure that yes, the patient is the right fit. Once we’ve cleared that step and there isn’t anything obvious, then, starts the process of an official screening. Screening is when the patient comes in and provides consent to participate in the clinical trial. Then, a series of tests and questions happen to make sure that there isn’t anything else right before the patient would go into the clinical trial that would potentially exclude them. The cool thing is, is that patients with pulmonary hypertension are not going to be unfamiliar with most of what is required. Every trial is different, but most trials are going to have some combination of requiring a six-minute walk, lung function tests, imaging, sometimes a CT scan, sometimes perhaps an MRI, chest x-ray. Some clinical trials will require a repeat heart catheterization within a certain period of time of enrolling in the clinical trial. Not all of them. Some of them just want to demonstrate that at some point, yes, the patient was properly diagnosed with pulmonary hypertension of whatever variety the study is looking at. Always blood work and then a questionnaire. Now, that is not necessarily a comprehensive list. There could be a few other things, but it’s pretty rare that there’s something that the patient has never heard of before that needs to be done as part of a clinical trial evaluation for pulmonary hypertension, because most of what we’re looking at are things that we’re already doing in the evaluation of a patient. Once you go through all of that, it’s kind of like a final system of checks and balances. Okay, we did the screening testing, everything seems to be checked out, and yep, you are a go. Everything is good. There’s nothing that has excluded you. You’re exactly the right patient. Once you clear that hurdle, then the patient becomes enrolled officially in the clinical trial. Of course, at that point, it depends on how the trial is designed. There could be a medication involved or perhaps a different application of a known medication, perhaps a device or something that the patient will need to have with them, or inserted or whatever. There’s lots of different possibilities, but that process of screening really starts well before an official screening. Then, you go through the testing to make sure that everything still checks out. Then, you go through the clinical trial. Clinical trials are of various duration. Usually in pulmonary hypertension, it’s a pretty common interval is usually at least six months. There have been certainly clinical trials that have lasted shorter than that. There are some that go beyond that. Obviously, the patient is going to know that before they would ever even sign consent, what the duration of the trial is. So, you go through the clinical trial. At the end of the investigation period, many clinical trials then have an opportunity to go into what’s called an open label extension. If it’s a drug trial and the drug is not approved on the market yet, then the only way to get access to the medication is within the confines of a clinical trial. So the cool thing is, and it’s really kind of a fringe benefit of participating in the clinical trial, is the patient many times, and the patient would know this before entering the trial if this were an option, it’s not held out as a mystery until you get done with the trial period. So let’s say the trial is six months. At the end of the six months, you and the physician are unaware if you’ve got the drug, if it was a drug trial, for example. At the end of the six months, many clinical trials are structured so that you can enter into an open label extension, which means the patient is guaranteed to get the drug, not a placebo, but the actual drug, for a... /episode/index/show/phawarepodcast/id/33687302

Episode 493 - John Kingrey, MD and Nicole Fitzgerald 11/04/2024

Kathy Downey - phaware® interview 492 10/29/2024

Kathy Downey - phaware® interview 492 Canadian patient, Kathy Downey, recounts her four-and-a-half-year journey with pulmonary hypertension (PH). Kathy shares the challenges of living with the condition, including reliance on high-flow oxygen and the emotional toll it has taken. Despite these obstacles, she has become a passionate advocate, educating others about PH and serving as an ambassador for PHA Canada. Throughout, Kathy highlights the crucial support from her husband and the difficulties caregivers face. My name is Kathy Downey. I am from Calgary, Alberta. I have been a PH patient for four and a half years, and it's been a fun ride. When I first started feeling that something was wrong, I was in San Diego. I was there on a medical conference. We were at a nice little Italian restaurant and we had to climb over all those canals that San Diego is famous for. Everybody was pulling away from me. I thought, well, I didn't drink that much, I didn't eat that much, so what's the problem? I am so out of breath. So, I spent most of that conference just trying to fake it till I make it, because even though I'm with all these doctors, they're all forensic pathologists, so I don't need their help yet. I thought, okay, Kathy, when you get home, you are going on a diet. You are going to exercise until you get this fat ass in control, and there ergo, your breathing will be better. We went back home. I talked to my family doctor. Of course, she was on board with the losing weight and all that. As time progressed, things progressed even more. I got to the point I was no longer working for the medical team. I was working for the faculty of nursing at the University of Calgary. I was trying to walk from building to building as part of my position. I would be taking my phone with me, not to call an emergency, but to be able to catch my breath, and hopefully nobody would notice. One of the worst times was when we had construction going on in the little area where our buildings were, so we had to walk outside in minus thirty-something degree weather, in Celsius. The wind was blowing and it was so cold. I couldn't catch my breath for love nor money. I thought, well, I'm just going to lay down here and die. I'm done. Of course, being a woman, we also have other issues that might be a problem. I was of the age of perimenopausal. I was bleeding a lot, so the tiredness and the short of breath could be attributed to that. Finally, when I was able to find a gynecologist that would actually do surgery for me, I thought, oh, I'm going to get this out of my body and I'm going to be a-okay, I'm going to be back to the land of the living. But it didn't help. So, I went to the ER. Not multiple times, I tried not to go, but when you're not breathing and you think, well, I'm going to go to the ER and they're finally going to figure it out. But I would get doctors saying, "Yeah, you've got something, but I don't know what it is." Or before I had my hysterectomy, one doctor said, "You can't buck the system by coming into emergency and hope that we're going to pull your uterus out of your body." He didn't even attribute any of my concerns of, “I wasn't caring about this, I was caring about my breathing.” I went back to San Diego the month of February 2020. I still was having troubles. I got onto Santa Monica Beach. I got halfway across the beach and I thought, well, here we go again. I'm going to just sit down in the sand, at least it's warmer, and I'm going to die here. It kind of put a damper on that trip. I mean, anybody who's been to San Diego and seen the zoo and the hills in that zoo, let's just say I did a lot of sitting on benches while my daughter and my husband went and did all the other stuff. When I got back, I started having pains in my arms. I couldn't figure out what's that from? Is that because I flew? It's a three-hour plane ride. I got in there, I got a ER doc that actually listened. He finally did all sorts of tests on me. Meanwhile, (my husband) Don had to go back to San Diego. He was staying with our friend who's a forensic pathologist. I was writing, ask Evan, our friend, what should I be asking this ER doc, because I have his attention? Evan says, "See if you can get a copy of your medical records." I got medical records, took pictures and sent them to Don and Evan. He says, "Yeah, ask them why you have pulmonary hypertension." He's a doctor, it's great that he knows a little bit about this stuff, but I'm saying, "No Evan, it's not pulmonary. It's cardiology, because my blood pressure is bad," and everything like that. While I was waiting for Evan and Don to write me back, I was looking through my medical records and down in the corner, in 2017, and this is 2020, it says, “pulmonary hypertension?” Nobody had gone any further in the speculation that I may have had pulmonary hypertension three years prior to when I finally got diagnosed. The short end of the rest of the story is that within a week I was back to see my respirologist, who was a great person of, "Lose the weight and you'll feel better." All of a sudden, he was eating his words and he had me in the PH clinic. Within a week, I was a patient of Dr. Jason Weatherald. I just went through the system really fast. Unfortunately, by the time I had my right heart catheterization, he came in and said, "You have this. You should be in the hospital, but you can't stay in the hospital, because the world is shutting down this evening for Covid." We went back home and it's like, okay, now I've got to deal with this pulmonary hypertension thing. Don't Google it. Covid, what is this Covid? Covid wasn't even on my radar, because I was so busy working with what's going on with me, and oh, I think I see a glimmer of hope that somebody knows what's actually wrong with me. It was hard for the first few months of dealing with not being able to ask the questions that I wanted to ask, and trying to navigate both of the huge issues that were in my life at the time. But I am very grateful to . I've become an ambassador. The Facebook page, the Canadian PHriends Facebook page is a wonderful place to go, because you're with friends. It's private. We did a lot virtually for two or three years, which was also nice to be able to have that camaraderie. About a week after I got diagnosed, I was going back for an assessment and I said to Dr. Weatherald, "I am still finding it really hard to breathe.” I already was put on, I think, two oral medications by that time. He took me for a little walk around the office and he said, "Yeah, you are quite low." He gave me a list of oxygen providers in our city. I went home and I picked one. I phoned them and they came in, and their assessment had me on eight liters per minute already. I have been on relatively high flow since the very beginning. I just celebrated my four and a half year anniversary. I am now currently at 22 liters per minute, because my condition is steadily getting worse. The responsibility of oxygen, is knowing or being able to estimate, how long are you going to be out? How many cylinders of oxygen do you need? What will you do if you get into a snare in the traffic and you're at a standstill for… 20 minutes, could even be detrimental. All these things are going through your mind as you're going out. You're not able to totally relax. In the early days, I was able to go out and have coffee with my friends. I used to drive. I used to go to my appointments by myself. Then, as the oxygen started mounting and mounting and mounting, I found that I would get dizzy. It was a lot lugging the tank in and out of the car. Trying to do that again in -20, -40 degree weather was not fun. My husband ended up taking up that duty and he's been great. But, the one time I had to do it of late, my son and I were going to the appointment and I'm so used to Don preparing everything for me, that we took what we thought would be enough. But then, we got unsure of where the appointment was, a little lost. Then, by the time I got to the appointment, I was already half done with all the oxygen that I brought. When I was on eight, it would be scary, but I knew I could get home even if I ran out of oxygen. At 15 plus, there's no chance. I've gotten to the point now that if I'm without oxygen for even three minutes, I think I'm going to blank out. I always prided myself, they always ask in a clinic situation, "Have you ever fainted?" I say, "No, I'm not a fainter. It must take a lot to make me faint." Well, I found out five minutes without oxygen can be that level that makes me pass out. I've been blessed with the greatest caretaker in the world, and many people in the Calgary PH community know us as the couple, the powerhouse couple. Not because we'd wanted it to be, it just happened that way. I don't know how I could do it on my own, all this, with the appointments, the hospital stays, the oxygen and everything. I have needed Don along the way, mental support, emotional support. Caregivers get a bum rush in many ways that they are not supported by our government. They are only supported if they had a job and had to leave it, and can go on unemployment benefits. But when your husband, or partner, or caregiver has to start looking after you and they're self-employed, and no longer can do their job, there's diddly squat for them. Most people on PH, for me anyway, I was too far gone by the time I was diagnosed, to be able to ever work again. You feel that emotional tug of, I want you to go and work and I want me to go to work, but I want you home in case something happens. So my hat's off to the single people who have to do this by themselves and juggle everything, because he contacts my disability for me, because sometimes they just talk above me. I don't know if it's the disease. I never felt so dumb until I got this disease. The funny thing, I guess, is when I used to have to go for blood work, because I'm on such high flow and during Covid, he couldn't come with me with the extra oxygen. He would sit out in the car and if I had to wait anytime, because even though I had an appointment, I'm still waiting an hour. I would text him and say, oh, I need oxygen. He would come in and assure everybody that he was only there for a second or two. Then, I had to go in during the winter months. I said, "Let's just go in the morning when they first open up, because then it's done and we can get on with our day." They open up at 06:30 in the morning. I'm sitting in the car where it's warm, and Don's standing in the lineup with everybody else with his toque, and his mitts, and everything. This is the sort of stuff that he does for me. Now he does all the cooking and house cleaning. I'm so grateful for him. But I'm also sad for him that he's had to do this. When I was diagnosed, before that, I always wanted to be an authority on something. We'd all like to, not necessarily die the way Matthew Perry died, but he had remembrances and accolades and all that. I don't think I'm going to get that, but I wanted to be an authority on something. When I got my disease, I said, I am going to be an authority on this. I am going to learn everything I can about this. We did that. We studied, we talked to people, we read reputable articles and all that sort of stuff. My main thing was to educate. First, it was to educate family doctors, because they're the ones that see us first and they don't have a clue. It's not their fault, because they are a general doctor. They can't know everything. Even specialists don't know everything either. Throughout the last four years, I make it a point to introduce myself to newbies on the Facebook page. I host a monthly meetup that's virtual across Canada. If somebody's in the hospital, I'm going to write to them and say, "Hey, what are you doing? Everything going well?" Blah, blah blah. Then, somebody said, "Are you interested in becoming an ambassador?" I thought, oh, I don't know if I can do that. I looked at Don and I said, "Do you want to do it?" He said, "Yes, let's do it," because then we have another way of getting the education out. So, we became ambassadors two years ago. Then, we were invited to be on the CRAVE panel, which talked about patient involvement in trials of new drugs and procedures. So, we're being sought out, which is really nice. I think I'm close to being that authority in something. So, if anything else, when I'm gone, somebody can say, "Oh, that Kathy, she knew everything." I am Kathy Downey, and I am aware that I am rare. Learn more about pulmonary hypertension trials at . Follow us on social @phaware Engage for a cure: #phaware Share your story: /episode/index/show/phawarepodcast/id/33271942

Episode 492 - Kathy Downey 10/28/2024

Sarah Stone - phaware® interview 491 10/22/2024

Sarah Stone - phaware® interview 491 Sarah Stone shares the story of her family's journey with rare medical conditions in North Central Minnesota. Sarah's life took a turn when her daughter began showing unusual symptoms, eventually diagnosed with pulmonary hypertension, a rare condition complicated by her family's genetic predisposition to HHT. As their medical challenges unfolded with two of her three children facing life-threatening conditions, Sarah discusses the trials of managing these complex issues while living in a remote area. She delves into the lessons learned, the importance of specialized medical care, and the determination to live life fully despite the circumstances. My name is Sarah Stone and we live in North Central Minnesota. We are a family that has a few rare things going on, pulmonary hypertension as a result of HHT. We're a family of five, and this is our story. My husband and I got married and didn't have kids for a while, and we wanted to start a family and we adopted our oldest son as a newborn. Then, we had two surprise babies that came along after that that we gave birth to. Everything was great. The pregnancy was great. The birth was great. Since we live in a remote area of North Central Minnesota, we did not want to be on the side of the road trying to get to the hospital that's about an hour drive away. We just chose birth at home for safety reasons. We had a great team working with us and felt really comfortable and confident about all that. All that went wonderful. Then, about 15 months into our new life with our toddler son and our 15-month-old daughter, we were newly living up in northern Minnesota for approximately a year. I had to keep taking my daughter into the doctor, because I just felt like something wasn't quite right. She had curious breathing things going on. I thought she's breathing quite heavy today, or she seems tired. I kept bringing her in to see if there was maybe bronchitis or pneumonia or just what was going on. Each time, things checked out fine. No clinical signs of bronchitis or pneumonia is what my very uneducated, ignorant brain was thinking of, because that's all I know of when I would hear about breathing issues. I'm not a person to compare kids. Every kid is unique and has their own pathway of development within certain parameters. She just seemed kind of low-key compared to her cousin and I thought, "Oh, this poor child. Is she going to be a quiet kind of wallflower child and she's stuck with this really outgoing, people-person kind of mom?" At that point, when she was about approximately a year old, she was breastfeeding a lot more and she was really struggling with sleep at night. I was just exhausted thinking, "Oh my goodness, she's supposed to be feeding less and why is she scream every time I try to lay her down." I would end up just holding her in the rocking chair while she sat up and was sleeping sitting up. I later learned in hindsight from her pulmonary hypertension specialist out at CHOP a couple of years later once we got connected with a peds PH team, which is really important to do. Pediatric cardiologists are wonderful, but they're human and not everybody can know everything about every possible rare disease, so it's really important for families to get connected with a pediatric pulmonary hypertension specialist. I learned in hindsight that the reason it was so hard for her to lay down and she would be screaming at night is because that great pressure that she felt on her chest, which I hear from adults described as an elephant sitting on your chest. As a one-year-old, she would figure out how to communicate that to me with a very specific high-pitched frequency or pitch of squeal that I could not do anything except obey what she needed or wanted. The only way I can think to describe it to people is that it was like an ice pick. It pierced a certain part of my brain, the certain sound she would make. She was super smart. I think it's our job as the adults that have language to just figure it out and read their signs they're trying to give us. She was able to communicate to me how to care for her even though she didn't have words, because she was just a one-year-old. We would sleep sitting up in the rocking chair. She had given up pulling herself up and she had given up walking along furniture. She just would be happy to sit in the middle of the floor and play with some blocks and whatever as a one-year-old. She had the ability to walk. I was really puzzled thinking she must not have some sort of neurological involvement. If it is neurological involvement, it must be intermittent, because she is able to walk and she is able to do these coordinating things, so I don't know that it's necessarily something with her brain. So as a mom, I'm observing this, troubleshooting it and just knowing there's something wrong. To be fair, pulmonary hypertension is really tricky to correctly diagnose. My opinion is that our daughter had a very quick diagnosis, even though it might sound like it was kind of a long road from 9 months to 15 months, but that's nothing compared to what a lot of people go through being misdiagnosed or undiagnosed for many years in their life. She was feeding so often, because she needed calories. Little did I know, but her heart was pumping like crazy. I remember my mom saying something to me like, "Look at the artery in her neck." She said, "Look at how much that's pumping and pulsing." It was something where this pulmonary hypertension, now in hindsight I know, had come on gradually. I could not tell the difference, because I was seeing my daughter every day, whereas my mom saw her every once in a while, because we live about four hours away. She said, "That neck artery pumping, that doesn't seem quite right." From that, in hindsight now we know, that at that time her heart was working really hard. I took her into our local clinic and I was just like, "Something's not right with her breathing. Hi, I'm the crazy mom that's here again. Will you please check her out again?" Our doctor looked at her again. She said, "Well, I can't find anything clinically wrong. Let's just take a look at chest X-ray images." She took a picture of Evelyn's chest via X-ray. She came back to me and she said. In so many words, she was very cool and calm about it, but she was like, "This isn't good. You're going to go to higher care today. We're going to call some kind of transportation, a helicopter or ambulance. Her heart is really, really enlarged and I've spoken and consulted with a heart person who knows more about this than me, and we are going to get you to higher care now. Today, in the next hour." We live in a part of North Central Minnesota that the nearest village is like a hundred people and then the nearest town is like 400 people. But at that town, in Bigfork, Minnesota, there is an excellent rural critical access regional medical facility that we can take a helicopter or an airplane and get to higher care. Living where we live, sometimes there's challenges with things turning into a possible wilderness context, you could say, which I believe if I'm up-to-date on these terminologies is getting to higher care like an ER in two hours or less. Living up here, we're always figuring out how to think pre-emergently and to give ourselves the best advantage to get the best care that we might need. Actually, what happened at that time is there was a lot of snow and there was a snowstorm going on, so there was no helicopter or fixed-wing aircraft available. We ended up having to take an ambulance. Instead of the four-hour drive down to the Minneapolis area, we had to take an ambulance ride two-and-a-half hours to Duluth, Minnesota where we were in a peds ICU-type setting. Here's how ignorant I was about all of this kind of thing. Looking back, we're in Duluth and we had a really great young doctor there. He was sitting there with us along with a nurse, and I thought, "Wow, this is so great. They really have great customer service, because here I am one-on-one. We've got a whole nurse to ourselves and she really seems to be paying attention to only us. Wow!" I think back on that sort of humorously, because I realized, well, it's because my child was probably near death, because she had such an enlarged heart. She was in a dangerous situation. We were at that hospital overnight and they took really great care of us and then they put us on an airplane immediately the next morning as soon as they could get us out of there. We were taken down to Minneapolis to Children's of Minnesota where Dr. Charlie Baker helped us out. He was the lucky or unlucky guy that had us as a patient that day. I feel like we were very blessed to have him. He said that he had done a heart catheterization. Another thing I like to laugh about is poor Dr. Baker, his face, he looked like he had seen a ghost. I thought, "Wow, this guy needs a vacation. He needs to get out from under these fluorescent lights." Here I am concerned about his well-being. He could use some sun. Honestly, he was probably kind of pale, because he had just been the doctor in the catheterization lab performing the heart cath and was probably not able to believe this bad report that she was so bad off. Basically, the doctor said, "What we can do is go ahead and try a systemic vasodilator called sildenafil and see if she responds to that. If she does, awesome. If not, then we're looking at some sort of transplant consideration," because at the time her heart was so, so, so, so, huge, huge, and enlarged. She did show trending in the right direction of improvement. She did respond to the systemic vasodilator. This was in December, when she was correctly diagnosed. By August, essentially, she was labeled as out of heart failure. So that was awesome. We were really happy about that. She was on the oxygen 24/7. In the winter, it was really great. She would just pull a little sled. She was very independent and would just pull a sled around with her oxygen tank in it if we wanted to be outside. We live in a cold climate. She has always been really busy and active and enjoyed just living her life. We decided that this is her life, she doesn't know anything any different. My husband and I had worked with a lot of different people with special needs over the years, whether it be cognitive or physical, or both. Some of the families and kids that we really respected and really were impressed by were families that didn't put limits on their loved ones. They, within reason, allowed them to push their boundaries and figure out who they could be and to not feel sorry for them. This is their life. Something we realized is, it's kind of silly to feel sorry for people because that would be like feeling sorry for me, because I have blue eyes or feeling sorry for me, because I'm right-handed. It's just life and it's just how we are. Let's deal with that appropriately, but it's not something that needs to necessarily be felt sorry about. We found out that we needed to have a pediatric PH team would be the wisest thing. We somehow found the Families of Children with Pulmonary Hypertension Facebook group that was started by a mom out east. We joined that group. We learned from people there that it's super important to have a pediatric PH team or doctor that's managing the care of your child because there's all these, “yeah, but” situations and things that people and other pediatric cardiologists don't know that they don't know or they just haven't had the experience or the opportunity to practice because it is a rare thing. Pulmonary hypertension is rare. So we went to the pediatric doctor that we were most acquainted with and comfortable with, which was the team out at CHOP, which is in Pennsylvania. Mind you, we live in Minnesota. We chose that team. They're all really great. Way back then it was Dr. Brian Hanna. We interviewed him and he talked with us to see if we all wanted to work together, but we had decided to go with that team, because we had met Steve Walker at the PHA Conference, which at that time was in Indianapolis. Evelyn was around two years old when she started doctoring with the team at CHOP. They were awesome, and their whole team was awesome. Dr. Hanna recommended that she be on subcutaneous infused Remodulin. That was the second of three possible PH meds that she started as a toddler. Then, she was on sildenafil. About that time that we were starting Remodulin, I was really feeling sick. We were at CHOP for the first time. I just remember being very, very nauseous. Well, maybe I'm under a lot of stress. Maybe I haven't had enough water. We have just been flying on airplanes and we are dealing with this highly stressful rare diagnosis and all these decisions to make about new medication and whatnot. I didn't know. Maybe I was having some sort of acute stress reaction, ASRing in my own way or something. Turns out I was pregnant with our second surprise baby. Now, unbeknownst to us, heading towards the HHT understanding. Learning that I was pregnant, we shared that with the team at CHOP. Dr. Hanna even ordered that it'd be really wise to have certain unique checkups done in utero with this new baby that was coming. He ordered a very fancy, high-end… I think it was 3D imaging type ultrasound. So we did that. Because at the time Evelyn was diagnosed, her PH was diagnosed as idiopathic pulmonary hypertension. They did not know the cause. Idiopathic means no known cause. They did do a simple genetic test for some of the most common genetic markers that can cause pulmonary hypertension. Those results came back normal, so those were not the case. We went ahead and did all these additional tests and everything looked good. So that pregnancy was uneventful, boring, and healthy like everybody wants their pregnancies to be. Then, Josiah at about three weeks of age, I took him into his well-baby check. Dr. Harmon, our local GP, she did all the normal checking out. His soft spot on the top of his head was full. Not bulging, but it was full, and she was like, "Oh, this is strange." Given that we already have had these unexplainable things going on with Evelyn, we decided that it would be wise, the doctor said, "We're going to not mess around. You don't need to go by ambulance." But she said, "Go home and pack your things and you're going to drive down to Children's of Minnesota today, and we're going to have them do some imaging on his head." We thought, "Oh boy, here we go." That was a little bit traumatic. We had moved up here because we wanted to enjoy the outdoors and peace and quiet and live our lives and work our jobs and raise our kids in a beautiful northern Minnesota location that people save their vacation time all year long to be able to get away to and vacation in. Here we are having to take airplanes, helicopters, go home, packing your bags, and get down to the ER in the next four or five hours. We checked in at the ER down in Minneapolis and got in to do imaging right away. Sure enough, there was a malformed vein in Josiah's brain. It was this vein that we all have called vein of Galen. It was a really big tangled mess. What was happening was, this malformed vein was blocking the flow of the cerebral spinal fluid. It was causing hydrocephalus for him, thus the soft spot being full. We thought, "Okay, well, here we go." They diagnosed it as vein of Galen malformation is the official name of it, which makes sense. He did have five embolization surgeries on his vein of Galen malformation from about the time he was one and a half months of age until one and a half years of age. All those went really well. Dr. Jagadeesan at U of M Masonic Children's did an awesome job and was in great communication being guided by the wisdom and experience of Dr. Alejandro Berenstein at Mount Sinai Medical. Everything went great. Our son was very fortunate to have really great outcomes. He is great in every way. He has no complications from any of his brain surgeries. We're really thankful for that. With the blood rushing through that vein of Galen malformation and right to the heart, Josiah was discovered to have a little bit of edema, a little bit of extra fluid on the heart. But somehow his heart adapted and he did not get pulmonary hypertension as a result of the vein of Galen malformation. So then, I'm wondering, what are we doing that we've got two kids with vascular types of involvement, and so talked to our daughter's PH team and said, "Hey, can we do that full panel to test?" I said, "I think we might have HHT," thanks to something a mom named Kelly on our PH support group on Facebook had shared about her daughter and a lot of the things were the same. She was awesome to call me one day when I reached out to her and I said, "Tell me more about HHT." After speaking with her, I said to my daughter's PH team, "Hey, can we finish that entire genetic panel. I think we might have HHT in our family?" And they said, "Sure. You probably don't have HHT, that's really rare, but yeah, let's go ahead and do that. No problem." We did that at the next time we were down for Evelyn's annual right heart cath. We were over in Philly for that. They called back and said, "Guess what? You were right. It is HHT." So our family has the ACVRL1 genetic variance now is the language. Not genetic mutation anymore, genetic variance. Sounds a little nicer I guess. We have the ACVRL1 genetic variance causing HHT and it's the HHT that's causing the pulmonary hypertension. As you can see, we've got a lot of crazy different inroads of rare involvement in our family with the pulmonary hypertension, the vein of Galen malformation, the HHT. We just decided, hey, we're going to make the best of this. What you get is what you get and you make the best of it. We just have decided as a family to try to live life to the fullest. We've let our kids do whatever they need or want to do. Luckily, Evelyn's pulmonary hypertension is a type of pulmonary hypertension that she is able to be successful in self-regulating and just kind of reading her body and what she needs. She has enjoyed life learning how to ride bikes and cross-country ski, and run and play. Thankfully, her heart has been mostly anatomically sound. She did have a little bit of a PDA that needed to be closed at around age five. She got all the more efficient with functioning, and so she no longer needed naps. We've just been enjoying travel to go visit family and friends four hours away. We're kind of the oddballs of our family that we live in this far remote area in northern Minnesota. We have had to travel via Angel Flight out to Philadelphia each year to do Evelyn's annual right heart catheterizations. She does have AVMs in her lungs, which are causing some left heart enlargement. She does have some aorta enlargement, but we just try to live life to the fullest and take our situation as normal for us. It's really challenging and it's taxing as a caregiver, it can wear on you. It does cause a lot of family challenges and challenges in processing all of this and deciding what to do or not to do in life and where to invest our time and energy and how to enjoy the best life that we can. It's been a good lesson trying to navigate what's important to us and taking a look at those things and thinking about those things. We have had a really great relationship with our local clinic with the different medications Evelyn's been on. We have a pre-emergent agreement with our local ER that if something's starting to look like it might be sketchy, we go to the ER a couple of steps ahead of when your average person might decide to go to the ER, just so that they have the chance to call the helicopter, call the airplane and that kind of thing. There was a time where in the different medications Evelyn's been using, she at one point was on the sub-Q infused Remodulin. Then, she... /episode/index/show/phawarepodcast/id/33219507

Episode 491 - Sarah Stone 10/21/2024

Maria Morais - phaware® interview 490 10/15/2024

Maria Morais - phaware® interview 490 Maria Morias, a registered nurse from Canada, shares her journey of managing multiple autoimmune diseases, including her recent diagnosis of pulmonary arterial hypertension. Previously dealing with scleroderma, Raynaud's phenomenon, and a rare liver disease leading to a liver transplant, Maria's ongoing symptoms of shortness of breath were eventually linked to pulmonary hypertension. Her story reflects on the psychological impact of chronic illness and the empowerment gained from community support and self-advocacy. My name is Maria Morias and I live just outside of Toronto Ontario in Canada. I'm 54 years old and I’m newly diagnosed with pulmonary arterial hypertension. I have other autoimmune diseases. So, to sort have another disease added to my list has been overwhelming to understand, but also it's given me an answer to my shortness of breath. My pulmonary hypertension is considered Group 1, associated with scleroderma. I do have mixed connective tissue disease. I've been seeing a rheumatologist for a number of years. In my early 20s, I was first diagnosed with Raynaud's phenomenon and circulation issues of my hands and feet that have been severe throughout my life course. Then, in 2018, got diagnosed with a major rare liver disease, autoimmune rare liver disease called primary biliary cholangitis. I developed several severe symptoms of fatigue, itchiness, brain fog, and shortness of breath. So, the shortness of breath I sort of figured, at that time, was due to ascites and a massive fluid buildup in my abdomen, where towards the end of my liver disease, just pre transplant, my liver became cirrhotic and not effective in what it was needing to do. So, fluid is backing up into my abdomen. I'd gain about 20 pounds a week, go in on a Friday morning and have fluid drained, 10 liters of fluid drained. I thought there was a lot of compression on the diaphragm causing a lot of shortness of breath. Pulmonary hypertension was never on the radar of any of my physicians, my hepatologist, my rheumatologist. Post liver transplant in 2021, I started to recover. That was a pretty intense recovery of regaining my energy and short walks, but I was still having severe shortness of breath. Slowly along the way, I had the respiratory sort of check out with a six-minute walk. I’ve been doing that every six months with a respirologist and pulmonary function test. It wasn't until last probably December of 2023, my rheumatologist said, "Let's do some more testing." I did have interstitial lung disease as a general diagnosis from the respirologist, but this rheumatologist thought, "Let's check some other things." So he sent me for an echocardiogram, which I thought, "Well, how does this work?" The rheumatologist looking after respirologists sort of work. It was a good thing, right? So, never discount somebody's professional opinion as an option. Of course, I wanted to inform my respirologist and he said, "Sure, no problem." So good thing that there wasn't any territorial or issues there. My pressures came back pretty high on echo. So, that led to sort of the next investigation. Then, I was referred to a respirologist that actually deals more, and specifically with pulmonary hypertension. That was earlier this year in 2024, to then go in for the gamut of testing. So, I started off with a sleep study and I thought, "Well, what does a sleep study really have to do with my shortness of breath?" I am a registered nurse. I work in public health. I've been a nurse for over 32 years, but more from a health promotion angle. So, it's kind of ironic that I'm on the other end lately as that patient and trying to advocate for my own health. It's really important, right, to navigate through the system, to understand the various healthcare provider roles and where we sit as a patient, how you're feeling, what you're feeling, all your appointments and putting everything together. It's quite overwhelming even with someone that can have ownership over your own health and control. However, you sort of lose that control when you leave it to others to kind of put your story together of coming up with what you really have. I did go for the sleep apnea test, and it was about, well, if you feel more rested then you're better able to cope with your day. So, there was some mild apnea with about seven episodes per hour. But then when I went into REM, it was 24 episodes per hour. I thought, "Okay, so there might be something there." I have not progressed yet to use a PAP machine, so that's kind of on my radar of consulting with others to see if I really need to invest in that or not. Then, I went for a bubble echocardiogram, which was pretty interesting to see these little effervescent bubbles go through my heart. I was watching the screen just out of curiosity. It did show that I did have a small hole in my heart. Apparently, that's been there since birth. I said, "Well, is that the problem of my shortness of breath?" The respirologist said, "Well, you've lived with it for 54 years, so that probably is not the problem." Then, the next sort of definitive exam was the heart catheterization, which sounded pretty scary, right? Having a tube put in right through to your heart can be very scary. The image of something touching your heart, what could happen. So again, went in. It was very simple. I think I was on a relaxation sort of medication. I wasn't put under. It was quick. There we had it, I think it was 30 milligrams of mercury. Certainly I think the cutoff is in the 20s. I’ve now started on a couple of medications. We had to go through a lot of insurance hoops to get that approved. Thankfully, for the Toronto UHN Hospital, they have patient navigation mechanisms that made it very easy. On the back end, they did all the paperwork. Then following that, it was kind of a leveling up, see if I had any major side effects that they listed off, swelling, some discomfort, some cramps in the legs. I had a little bit of that, but then tolerated it. Now, just a couple of weeks ago, have added an additional medication. I still have yet to feel any sort of changes. I understand that it could be six months to a year with a repeat of the heart catheterization. Having a diagnosis is important because then you ask, "Well, how did this happen? Why did it happen?" Leading it all back to, in my case, the autoimmune and scleroderma. Scleroderma was always something that was kind of query on my medical record. I said, "Well, how does that express itself? What am I going to see over the years?" Here it is, the starts of that as well as the interstitial lung disease. I have some start of kidney disease, as well. Also, autoimmune. I'm at stage 3A, which there are five stages, so I still have room. But knowing that how quickly my liver disease progressed to be needing a liver transplant, of course one of the things that goes through my mind is lung transplant. I try to sort of keep in check with that and take one day at a time. Right now, I'm very, very early in the diagnosis, second, third month in. I’m reading a lot, I connected with the to get credible information and to start to connect with people that are also experiencing it. I’m in Facebook groups and just learning. One of the things that I do with my liver disease is I belong to the , and I do a lot of patient advocacy there. I'm actually the VP patient advocacy. It is a totally volunteer organization across Canada. I have met some really wonderful people, lots of great peer patients. I do a lot of mentoring. I'm hoping maybe I can explore some opportunities into the pulmonary hypertension world and learn for myself and help each other sort of cope with all our uniqueness of all these rare diseases. As a nurse, one of the things that I always keep in mind is this psychological component of disease and healthcare challenges. Being in the nursing role, you have the resources, you have the referrals, you have the connections. But then finding myself in a patient role, it's very much different, because it's being done to you and upon you. What I found is that I had to bring my voice forward and have my symptoms be heard. A symptom like fatigue is something that is easily described by a mother, a working mother, children, balancing work life care provider of parents, multiple things. We're always tired. We're a society that's tired because we're doing it to ourselves. Technology makes things easier. Therefore, we do more. To really be as a patient describing what that tiredness is and how that affects the quality of life, but also then having it tied to an actual diagnosis and understanding that, I think it is a totally different situation being a patient than actually nursing that patient. Having a liver transplant for my situation, I still have PBC, primary biliary cholangitis, which is a rare autoimmune disease that affects the small bile ducts of the liver, that can lead to cirrhosis. It's rare in this population group of PBC patients. There are several stages. I unfortunately was part of the less than 30% of patients that ended up with end-stage liver disease. Having said that, it does not take away my PBC. I still live with PBC. It just says that I now have a new liver that my body will live with and eventually may, could develop cirrhosis again. My autoimmune could attack this new liver. However, I'm now 54, so by the time it attacks my liver again, if it does at all, I'll be that much older or not here. It doesn't preclude that I need to be taking care of myself, watching what I eat, my quality of life. I have a lot of medications to maintain the quality of my liver and to prevent that cirrhosis from happening. Whereas I probably lived with the disease without knowing, because that's a lot of patients do. By the time you get diagnosed, it's because something is off. Typically, your liver enzymes, but that's something we don't test daily. The fact is, I still have PBC as that autoimmune liver disease, which may or may not complicate other autoimmune disorders that are evolving in my body, which pulmonary hypertension being that example. Having the lived experience of several autoimmune diseases, and a lot of them sort of rare, it's really helped me to be a better and broader healthcare practitioner. I always understood that we're complex human beings, that factors influence the way we are and how we take care of ourselves. But the added bonus or blessing out of my health issues in the last three years is that I'm now better positioned to speak forward for patients, to bring their voices, to amplify their voices, to listen to what the community of these diseases, those that are living with these autoimmune diseases, in particular, the rare ones, where to give voice, whether it's advocating for better treatment options, like in my PBC situation, being in situations with industry and pharmaceuticals and impacting on the kinds of science and treatments that are being thought about. It's actually a really interesting time where a lot of pharmaceutical companies and physicians are really trying to hear and receive the end user or the patient perspective into their treatment. I'm fortunate enough to find myself in that healthcare system or the credibility of being a nurse. And having that lived experience, the doubling up effect, fortunate, unfortunate, has made me that much more confident. I feel like there's a calling in me to do this. That's why when I was diagnosed with pulmonary hypertension, I thought, "Well, I've done this in the liver world and the living organ donation world, why not?" It's the same sort of mechanisms, just a different disease. My name is Maria Morais, and I'm aware that I'm rare. Learn more about pulmonary hypertension trials at . Follow us on social @phaware Engage for a cure: #phaware Share your story: /episode/index/show/phawarepodcast/id/33202387

Episode 490 - Maria Morais 10/14/2024

I'm Aware That I'm Rare: the phaware® podcast

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