Lauren- "Good Things Come in Small Packages"
Lauren, is here speaking with us today about Lysosomal Storage Disease. Lauren, although only 4'3" has a great deal to share with us today! She 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)
Lauren, symptoms, form, people, disease, listeners, diagnosed, Japanese descent, treatment, infants, facial features, infancy, disorders, birth, mom, professional medical advice, enzymes, storage, condition, spleen, Lysosomal,
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 ...
and I'm Ron,
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.
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?
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.
And Lauren what were the symptoms that you started having and at what age did they develop?
Well, I had Galactosidosis...they diagnosed me when I was born.
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.
Yes, it is. Yeah,
Lita T 04:25
Let me see if I can help you with that one: heptyl ...let's see
Lita T 04:29
Lita T 04:31
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.
Can I take a stab at it?
Lita T 04:42
Lita T 04:48
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.
...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.
Yeah, that's... that's definitely a lot Lauren. Can you please tell us how someone gets Galacto?
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
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
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...
I think she said infancy, right?
Lita T 08:52
Early infancy or late infancy? I don't remember what you said.
So I was diagnosed at birth.
Lita T 09:00
Oh, at birth.
When I was born.
Lita T 09:02
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?
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
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.
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?
I don't think it does. No.
I go see an eye doctor, a pediatric doctor every year.
Just to see if my vision has changed at all.
Lita T 10:29
And Lauren, how is Galacto or lysosomal storage disorder treated?
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.
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
Lita T 11:52
Right, right ophthalmological I can't say it either today.
...ophthalmological, and other specialists as symptoms arise and to keep symptoms controlled.
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?
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
So, for now, their doing the enzyme replacement therapy. Which they still have to get past the FDA.
...which has been...it's over 10 years now...
Lita T 13:22
...that it's been at the FDA. So, I've been waiting over 10 years.
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. 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?
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
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
Very, very, very rare.
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.
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?
So, so Lauren, what was the first symptom or the symptoms that first made you realize...
or your parents?
Yeah, it was at birth. Yeah,
Lita T 15:33
I guess her parents. Yeah.
What was the first symptom that made your parents realize that something was different? Yeah.
Well, when I was born, I had extra abdominal fluid
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.
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.
Lita T 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?
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
Lita T 16:55
So, the research, the research has been done, but it's got to get approved.
Wow. 10 years.
Which has been taking like a long time to do!
Lita T 17:06
I wonder if...if because it's so rare. If that's what's causing the delay?
Yeah, that's my guess. But the good thing is, I think my one brother is going to college for genetics.
Lita T 17:23
Oh, wow! What a...talk about a special...special family bond there.
Lita T 17:28
That's wonderful. Oh, wow.
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
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...
Does ice or heat or swimming, you know, pool therapy...
Lita T 18:07
Is anything that makes you feel better.
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
Yeah. actually we just we were speaking with someone a little bit ago. And she designed she's designing swimsuits.
Lita T 18:39
Adaptive swimwear because it's it's such a great
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
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...
Along your healthcare journey?
Lita T 19:12
Yeah, to get you through your healthcare journey?
We are all struggling today.
Lita T 19:14
I'm just gonna stumble all over my words.
Well, I have three people and health care in my family.
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.
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?
The best advice for me, I think, cuz I'm very short. Short. I'm 4'3",
Lita T 20:41
So, it affected my growth. So, lots of times my mom would
say: "Good things come in small packages!"
Lita T 20:54
I love that! I love that! Yes, yes. Excellent, excellent.
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."
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
We're lucky to have someone out, you know, someone like you out there advocating for others. And, yeah, you're an inspiration!
That's definitely some great advice.
Lita T 22:05
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?
Yep, thank you.
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!
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.
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.
Absolutely! That's some grate advice!
Lita T 23:30
Well, and I...I think Lita really likes that because she's a
Lita T 23:33
She's petite too.
Lita T 23:35
So um, yeah,
Lita T 23:37
I'm the shortest one in the household.
All right. If our listeners have any questions or comments related to today's show, they can always contact us at 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.