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info_outlineLauren, is here speaking with us today about Lysosomal Storage Disease. Lauren has four siblings whom she loves dearly, and graduated in 2011. She worked at a community center until COVID put a hold on social gatherings. She considers herself a social person and is grateful for the chance to get her story out into the world.
Lysosomal storage diseases are inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body's cells as a result of enzyme deficiencies. There are nearly 50 of these disorders altogether, and they may affect different parts of the body, including the skeleton, brain, skin, heart, and central nervous system. New lysosomal storage disorders continue to be identified. While clinical trials are in progress on possible treatments for some of these diseases, there is currently no approved treatment for many lysosomal storage diseases. (Credits to RareDiseases.Org)
TRANSCRIPT
SPEAKERS
Lita T, Lauren, Jean, Ron
Lita T 00:09 Hello, and welcome to another episode of PodcastDX, the show that brings you interviews with people just like you, whose lives were forever changed by a medical diagnosis. I'm Lita ...
Ron 00:20 and I'm Ron,
Jean 00:21 and I'm Jean Marie.
Lita T 00:23 Collectively, we're the hosts of PodcastDX. Our guest today is Lauren Ryan. She has four siblings whom she loves dearly. She graduated in 2011 and works at a community center. Not this year because a COVID. She's a very social person and grateful for getting her story out to the world. And today she's going to be talking to us about lysosomal disease.
Jean 00:50 Hi, Lauren.
Ron 00:51 Lauren, thank you for taking the time to join us today. Please start out by telling us and our listeners. What exactly is, and I hope I'm pronouncing this right, Galactosidosis Lysosomal Disease? And please for the rest of the episode, can we abbreviate this and just call it Galacto? Is that okay?
Lauren 01:18 Yes, you may call it that. Galactosidosis, also known as Galactosialidosis is a condition that affects many areas of the body. The three forms of Galactosidosis are distinguished by the age at which symptoms develop and the pattern of features.
Jean 01:50 And Lauren what were the symptoms that you started having and at what age did they develop?
Lauren 01:57 Well, I had Galactosidosis...they diagnosed me when I was born.
Jean 02:05 Okay.
Lauren 02:05 So, the early infantile form of Galactosialidosis is associated with extensive swelling caused by fluid accumulation before birth, a soft out-pouching in the lower abdomen (an inguinal hernia), and an enlarged liver and spleen. Additional features of this form include abnormal bone development and distinctive facial features that are often described as "coarse." Some infants have an enlarged heart, an eye abnormality called a cherry red spot, which can be identified with an eye examination; and kidney disease that can progress to kidney failure. Infants with this form usually are diagnosed between birth and 3 months; they typically live into late infancy. The late form of Galactosialidosis shares some features with the early infantile form, although the signs and symptoms are somewhat less severe and begin later in infancy. This form is characterized by short stature, dysostosis multiplex, heart valve problems.
Lita T 04:23 Oh, that's a hard one.
Ron 04:24 Yes, it is. Yeah,
Lita T 04:25 Let me see if I can help you with that one: heptyl ...let's see
Jean 04:28 Hepato...
Lita T 04:29 Hepato ...hepato
Ron 04:30 Hepato...
Lita T 04:31 Oh Hepatosplenomegaly,
Jean 04:35 I don't think that's it.
Lita T 04:36 Okay. I think it has to do with the the liver and the spleen.
Ron 04:41 Can I take a stab at it?
Jean 04:42 Yeah,
Lita T 04:42 Yeah.
Ron 04:45 Hepato..splen...nom...ah...gally,
Lita T 04:48 Okay. Anyway,
Jean 04:49 One day we'll get hosts that actually know how to pronounce medical terms. But, today is not the day! I'm sorry.
Lita T 04:54 Right. That's okay, go ahead, Lauren.
Lauren 04:55 ...and "coarse" facial features. Other symptoms seen in some individuals with this type include intellectual disability, hearing loss, and cherry red spot. Children with this condition typically develop symptoms within the first year of life. The life expectancy of individuals with this type varies depending on the severity of symptoms. The juvenile form of Galactosialidosis has signs and symptoms that are somewhat different of the other two types. This form is distinguished by difficulty coordinating movements, muscle twitches, seizures, and progressive intellectual disability. People with this form typically also have dark red spots on the skin, abnormalities in the bones of the spine, "coarse" facial features, a cherry red spot, vision loss, and hearing loss. The age at which symptoms begin to develop varies widely among affected individuals, but the average age is 16. This form is typically associated with normal life expectancy.
Lita T 07:01 Thank you, thank you for sharing that.
Ron 07:02 Yeah, that's... that's definitely a lot Lauren. Can you please tell us how someone gets Galacto?
Lauren 07:10 It is caused by a mutation of CTSA gene. Galactosialidosis belongs to a larger...a large family of lysosomal storage disease, each caused by the deficiency of a specific lysosomal enzyme or protein. In Galactosialidosis, impaired functioning of cathepsin A and other enzymes causes certain substances to accumulate in the lysosomes.
Lita T 07:59 Okay,
Jean 08:00 and I think we've said this of many chronic illnesses and diseases: it's...you have to become like a subject matter expert, because I think for most people, like myself included, when you mentioned lysosomes and things, I'm just...I draw a blank!
Lita T 08:15 Right
Jean 08:15 Because it's just...the body is so complex
Lita T 08:18 It is, but basically what it is, it's a metabolic disorder. So we'll...we'll leave it at that as far as a simplistic term. And thank you, Lauren. I think our listeners will have a little bit of an understanding of what we're talking about now and we will have links on our website so that people can learn more. Also. Could you please tell us how did your condition develop? And I kind of missed when you said...when did your...when did yours...
Jean 08:51 I think she said infancy, right?
Lita T 08:52 Early infancy or late infancy? I don't remember what you said.
Lauren 08:57 So I was diagnosed at birth.
Lita T 09:00 Oh, at birth.
Lauren 09:01 When I was born.
Lita T 09:02 Okay.
Lauren 09:03 Yeah.
Lita T 09:04 Okay, and how has it developed with you over time? What have been the symptoms that you've had to ah...to deal with here?
Lauren 09:15 Well, I have had like little to no symptoms over the course of the year. Like they haven't noticed any changes or anything with my disease in particular. But it's different for every person.
Lita T 09:38 Sure.
Ron 09:38 Right.
Lauren 09:39 Living with like a chronic illness or disease or whatever. And so it's gonna be different for everybody. For me, I haven't noticed like any abnormal symptoms or whatever.
Jean 10:00 I did notice that you said the cheery red spot, which is something an eye doctor would have to see like, by looking at your retina, does that affect your vision at all?
Lauren 10:12 I don't think it does. No.
Jean 10:14 Okay, okay.
Lauren 10:14 I go see an eye doctor, a pediatric doctor every year.
Jean 10:22 Okay, okay.
Lauren 10:23 Just to see if my vision has changed at all.
Lita T 10:29 Okay.
Jean 10:31 And Lauren, how is Galacto or lysosomal storage disorder treated?
Lauren 10:37 The variant that occurs in infants can be treated in several ways: So, it can be treated with intravenous (IV) enzyme replacement. Or it can be done with bone marrow transplant, to slow the disease progression. Or umbilical cord blood stem cell transplantation, to restore missing enzymes.
Ron 11:01 Okay
Lauren 11:10 And for adults, the treatment is symptomatic and supportive; for example, taking medication to control seizures. Individuals with Galactosialidosis are encouraged to routinely see their genetic counselors, neurological, optha...
Lita T 11:45 Ophthalmological
Lauren 11:45 Ophthalmological,
Lita T 11:52 Right, right ophthalmological I can't say it either today.
Lauren 11:56 ...ophthalmological, and other specialists as symptoms arise and to keep symptoms controlled.
Jean 12:08 Okay, it makes...Yeah, that makes a lot of sense. So you're treating the symptoms as they come along? And can lysosomal storage disorders...is there a...like a cure or a potential cure? I know, you said that, you know, like bone marrow transplantation can help slow the progression. Are they thinking you know about gene editing or anything like that in the future?
Lauren 12:29 There, there isn't a cure for lysosomal storage disorders, a few treatments can help. And I actually went to St. Jude's Children's Research Hospital, in Memphis Tennessee. And like, in the beginning, they weren't gonna do a bone marrow transplant. But they, they did research on that and found it too risky.
Lita T 13:02 Okay
Jean 13:03 Okay
Lauren 13:04 So, for now, their doing the enzyme replacement therapy. Which they still have to get past the FDA.
Jean 13:16 Ooh...
Lauren 13:16 ..which has been...it's over 10 years now...
Lita T 13:22 Wow!
Lauren 13:22 ...that it's been at the FDA. So, I've been waiting over 10 years.
Ron 13:29 Wow.
Jean 13:30 Well, and I would have to say for all of our listeners out there: if you can donate bone marrow, it's a quick cheek swab to see if you're a match for someone who needs it. So, hopefully this interview will encourage more people to get out there. And you know, donate.
Lita T 13:47 Right,
Ron 13:47 Right. So, Lauren, can you tell our listeners how common are these lysosomal storage disorders? Are they rare or they pretty common or what can you tell us?
Lauren 14:00 Sure, more than 100 cases of the lysosomal storage disease have been reported. Approximately 60% of people with Galactosialidosis have the juvenile form. Most people with this type of condition are of Japanese descent. Now I have contact with three people with Galactosialidosis. And only one of them have like, are close to me medical wise.
Lita T 14:51 Okay,
Jean 14:51 And yeah, I think we said earlier in another episode that less than 200,000 cases is rare. So yours is
Lita T 14:59 100
Ron 14:59 Very rare.
Jean 15:00 Very, very, very rare.
Lauren 15:02 Yeah.
Jean 15:02 Well, I'm glad that you were able to find someone to be part of you know, your group. Because um, yeah, that can help.
Ron 15:09 What I find interesting too is the last thing she said about most people are of Japanese descent. I mean, that's pretty specific
Lita T 15:18 Of the...of the...adult and juvenile right. The one that's from birth...not necessarily right?
Jean 15:24 Okay.
Ron 15:25 So, so Lauren, what was the first symptom or the symptoms that first made you realize...
Jean 15:32 or your parents?
Ron 15:33 Yeah, it was at birth. Yeah,
Lita T 15:33 I guess her parents. Yeah.
Ron 15:35 What was the first symptom that made your parents realize that something was different? Yeah.
Lauren 15:43 Well, when I was born, I had extra abdominal fluid
Ron 15:51 Okay
Lauren 15:51 So, I had extra fluid, like in my stomach area. And then basically, they took like a biopsy of skin from me, and my mom, and dad. To test if...to see if anything was...wrong. Or anything?
Lita T 16:15 Okay. Well, at least they had an idea. And where to look with it, which is good.
Jean 16:20 Yeah. But that's got to be tough. I mean, you know, you have a new infant and here, they're gonna take a biopsy.
Ron 16:24 Right,
Lita T 16:25 Right.
Jean 16:25 Um, Lauren, do you have...do you know if there are any studies currently going on? Either to try to find a cure or improve overall symptoms?
Lauren 16:36 I know that my researcher at St. Judes Children's Research Hospital actually has done is done everything that she can do. So, now it's up to the FDA to approve it.
Lita T 16:53 Okay, okay
Jean 16:55 Okay.
Lita T 16:55 So, the research, the research has been done, but it's got to get approved.
Ron 16:59 Wow. 10 years.
Jean 17:00 Yeah.
Lauren 17:01 Which has been taking like a long time to do!
Ron 17:05 Right.
Lita T 17:06 I wonder if...if because it's so rare. If that's what's causing the delay?
Ron 17:11 Yeah.
Lauren 17:12 Yeah, that's my guess. But the good thing is, I think my one brother is going to college for genetics.
Jean 17:22 Ooooh!
Lita T 17:23 Oh, wow! What a...talk about a special...special family bond there.
Ron 17:28 Yeah
Lita T 17:28 That's wonderful. Oh, wow.
Lauren 17:31 Yeah. He wants to find like a treatment because he doesn't...he says he wants me to live life to the fullest! And he doesn't want to see me suffer anymore. So...
Lita T 17:48 Amazing.
Ron 17:48 Yeah. Hey, Lauren, what..what role, I guess for lack of a better word, self care. What do you do for yourself every day?
Lita T 18:01 To help you get through this? Well...yeah...
Jean 18:03 Does ice or heat or swimming, you know, pool therapy...
Lita T 18:07 Is anything that makes you feel better.
Ron 18:09 Right
Lauren 18:09 Well, I have a lot of arthritis in my hip especially. So, I like to do like...a warm shower. Or just any swimming or anything is really good for your joints and stuff.
Lita T 18:30 Sure
Ron 18:31 Okay
Jean 18:32 Yeah. actually we just we were speaking with someone a little bit ago. And she designed she's designing swimsuits.
Ron 18:39 Adapted
Lita T 18:39 Adaptive
Jean 18:40 Adaptive swimwear because it's it's such a great
Ron 18:45 Need?
Jean 18:46 Yeah, they're such a great need. And there's...it's such a great thing to you know, a nice warm therapy pool is very...is fantastic for almost everyone.
Lita T 18:55 Right. Lauren...well, you already mentioned that your...your brother wants to go into geneticists...geneti...seas
Jean 19:01 Geneticists?
Lita T 19:01 I can't talk...not much at all. Genetics to help you. What other help has your family or friends done to ah...
Jean 19:11 Along your healthcare journey?
Lita T 19:12 Yeah, to get you through your healthcare journey?
Ron 19:14 We are all struggling today.
Lita T 19:14 I'm just gonna stumble all over my words.
Lauren 19:16 Well, I have three people and health care in my family.
Jean 19:24 Wow.
Lauren 19:24 So, they know a little bit about my disease. Now my mom is a nurse. So, she knows more about my condition than about like anything else. Like she reads up on it, like a lot. And just having like a mom that knows. Like, from like a disease standpoint having a mom that knows what she's doing and stuff...it's really helpful and encouraging!
Lita T 20:09 That's very important. Yeah, that's fantastic! Very important. So good support.
Jean 20:13 Yeah. Yeah,
Lita T 20:14 Right. Could you tell our listeners: what's the best advice that you've heard to cope with having a rare disease? And what advice would you give to somebody that has been recently diagnosed with a rare disease?
Lauren 20:30 The best advice for me, I think, cuz I'm very short. Short. I'm 4'3",
Lita T 20:41 Okay.
Lauren 20:42 So, it affected my growth. So, lots of times my mom would
Lauren 20:50 They say: "Good things come in small packages!"
Jean 20:54 Awww....
Ron 20:54 (Chuckle)
Lita T 20:54 I love that! I love that! Yes, yes. Excellent, excellent.
Lauren 20:58 It's something that I believe is good. Like...it's like...common. A lot of people with rare diseases say: "good things can come in small packages."
Ron 21:12 Right
Lauren 21:12 And just for anybody that's been diagnosed, I would say...so, I'm a Christian...so, I would say that, like, if you weren't supposed to be here, God's the one who created you, and he has a purpose for every...everybody going through hard things in their life. At some point, everyone, everybody is going to go through something hard. It's just, what are you going to do with the opportunity that God has given you?
Lita T 21:56 Very nice.
Ron 21:56 Yeah.
Jean 21:57 We're lucky to have someone out, you know, someone like you out there advocating for others. And, yeah, you're an inspiration!
Ron 22:04 That's definitely some great advice.
Lita T 22:05 Very nice!
Ron 22:06 Lauren, how can our listeners learn more about you? And do you have any social media accounts or anything like that, that you want to share with us?
Jean 22:06 Yep, thank you.
Lauren 22:17 Yeah, so I have an Instagram account. So, my username is: @stjude819. And then I'm also on Facebook. And I do have, like a private Facebook group on Galactosialidosis. It's where, like people with my disease can go and we can share different things...from...about our disease that will really help other people!
Jean 22:59 Okay
Lita T 23:00 I will make sure that we put those links on our website so that others can can see those. That's wonderful. Thank you very much for for joining us today, Lauren.
Lauren 23:11 You're welcome
Ron 23:14 Well, again, we appreciate you sharing your story. I know we've learned a lot and I think the rest of our listeners have also learned a lot about Galacto.
Lita T 23:25 Right and good things come in small package.
Ron 23:28 Absolutely! That's some grate advice!
Lita T 23:30 Yeah
Jean 23:30 Well, and I...I think Lita really likes that because she's a...
Lita T 23:33 I'm short.
Jean 23:34 She's petite too.
Lita T 23:35 Yes.
Jean 23:36 So um, yeah,
Lita T 23:37 I'm the shortest one in the household.
Jean 23:38 Yeah.
Ron 23:39 All right. If our listeners have any questions or comments related to today's show, they can always contact us at [email protected] also to our website, podcastdx.com. They can reach us on Facebook, Twitter, Pinterest, or Instagram. And as always, please keep in mind that this podcast is not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health care providers with any questions you may have regarding a medical condition or treatment and before undertaking a new health care regime and never disregard professional medical advice or delay in seeking it because of something you have heard on this podcast.
Lita T 24:27 Till next week.