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.

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