Rare Diagnoses with Sarah Lepore, MSN, NNP-BC, Mother
Jan 31, 2023
One of the hardest things families go through is when something seems wrong with their baby or child. When we envision becoming parents, the hopes and dreams we have usually do not include a disability. Socital norms focus so much on "healthy" babies that getting a diagnosis of intellectual or deveopmental disabilities shatters our preconceived notions of what being a parent is.
Then there are rare diagnoses. The ones that have no name. The ones that might require extensive testing. The ones that don't have networks of support like autism and Down syndrome do. So on top of the parenting curveball you've been thrown, you're left with even more questions and almost no peer support.
That's why we had to talk to Sarah Lepore. Sarah has a Master of Science in Nursing and is a Board Certified Neonatal Nurse Practitioner. She is also one of the founders and the Vice President of the Smith-Kingsmore Syndrome Foundation. And of course, she is a parent and a caregiver. She's going to tell us about how her own odyssey with her youngest son Charlie brought her to us.
The Odyssey: Parenting. Caregiving. Disability.
Click here for more about the Center for Family Involvement's Genetic Navigator program.
For more about the Center for Family Involvement:
https://centerforfamilyinvolvementblog.org
For more about the diagnostic odyssey:
https://centerforfamilyinvolvementblog.org/2023/01/03/finding-your-way-in-a-diagnostic-odyssey/
TRANSCRIPT:
Welcome to The Odyssey: Parenting. Caregiving. Disability. I'm Erin Croyle, creator and host. The Odyssey Podcast will explore the unique journey we're sent on when a loved one has a disability. I started down that path 12 years ago when my first child was born with Down syndrome. Even though it's the most common chromosomal condition diagnosed in the United States, we still know so little. And at the time, as a new parent, I knew nothing. And so my journey has brought me here. Working with the Center for Family Involvement at VCUs, Partnership for People with Disabilities. We provide families with emotional and informational support.
Our podcast digs deep into the joys and hardships we face. We're going to celebrate how amazing the odyssey of parenting, caregiving and disability is. But we're not gonna shy away from the tough stuff either. One of the hardest things families go through is the diagnosis itself. Parenting is portrayed a certain way in our world. So much focuses on the healthy baby. So if anything with a baby or child strays away from our society's notions of normal or healthy alarm bells go off. It shatters our preconceived notions of what being a parent is. Then there are rare diagnoses, the ones that have no name, the ones that might require extensive testing, the ones that don't have networks of support like autism and Down syndrome do. So, on top of the parenting curveball you've been thrown, you're left with even more questions and almost no peer support. There's help though. A new statewide effort is helping Virginians navigate and access genetic services. The Virginia Department of Health and the CFI have launched a genetic navigator program to provide support at no charge to families in collaboration with our regional genetics network. If you need support with genetics or anything else relating to this odyssey we're on, you can call or email our helpline. All of that information is in the show notes.
You should also keep listening because today we're joined by Sarah Lepore. Sarah has a Master of Science in Nursing, and is a board certified neonatal nurse practitioner. She is also one of the founders and the vice president of the Smith-Kingsmore Syndrome Foundation. And of course, she is a parent and a caregiver. She's going to tell us about how her own Odyssey brought her here today.
So welcome. I'm so excited to talk to you today. Sarah Lepore. We at the Center for Family Involvement, you know, our world revolves around parenting and caregiving and navigating that world and empowering folks to be able to do that as well as they can. And your story is so powerful because you have had to really pave the way. Can you just start us off, Sarah, and tell us a little bit about, I guess, your son, Charlie, and that journey?
Yes, thanks for having me, Erin. Um, so, you know, I, Charlie was my third pregnancy, and, um, I was a nurse at the time, so, you know, I felt pretty in tune with what, how the pregnancy should be going. And early on, um, our O B G Y N was concerned about Charlie's head growth. All of my kids had big heads, um, but Charlie's was a little larger than the others, and he was following that real closely. And, you know, he, when he was born, um, everything looked good besides his head being big, otherwise, he, you know, was a great normal baby. Happy baby fed well, slept well. Um, we didn't really have any concerns until about two months. Um, when, you know, you start to expect some of those infant milestones and they just weren't coming. He wasn't, um, reaching for toys. He wasn't really, um, lifting his head up.
He had severe head lag. Um, and so that's when I started reaching out to my pediatrician, um, and talking to her more about, you know, could this, could there be something wrong with Charlie? Um, you know, of course, like most pediatricians would to a mom at, uh, two to three months of age, they might say, let's just wait. So we did wait a little bit until about between six to eight months where, um, we did notice that he was just not hitting milestones and getting further and further behind his peers. Um, so with the help of our pediatrician, um, she was able to get us in at U V A, um, through the developmental, um, pediatrician group, which I feel really lucky that at that point in time we, you know, we only had about a, a three to six month wait. I can't remember the exact wait, but it was, you know, it's felt long, but I know right now the waits can be upwards of a year. Um, so, you know, we got in relatively early and started our journey and, um, you know, we started up with the developmental pediatrician.
Sarah, I'm gonna interrupt you actually really quickly because I think a lot of times people don't actually know. Can you explain what the difference is between a pediatrician and a developmental pediatrician?
Yeah, absolutely. So a developmental pediatrician, um, is just that they are, they follow, um, infants through adolescents through their development. So their, um, emotional development, their physical developments, um, and, uh, they support your pediatrician. Um, where the pediatrician, um, is more for well sick visits. Um, they, the pediatrician does look at your developmental milestones also, but they would refer out to a developmental pediatricians if there was concern for a baby or child not meeting milestones, um, at the, the time that the line that the American Academy of Pediatrics has published. Um, so your developmental, um, is kind of a gateway. I I consider them really in those beginning stages of, um, looking for a diagnosis, your gateway, um, doctor to help you, um, connect with other, um, specialists, other services, if your child needs to, um, see other services, especially if it's kind of this gray, like we're not meeting milestones, but, you know, we don't have anything else specific. Um, it's, it's different when you already have like some, some other symptom that's really clear. Like if you have seizures, you might go the route of a neurologist, but if you don't have any real specific symptoms other than milestones, going to the developmental pediatrician is usually the the first place you would be sent.
And I, I'm curious too, um, and again, I wanna get back to your story, but it's so hard to find a developmental pediatrician and because you're on this journey and because we're talking about this now, I mean, what do you recommend someone do if they can't find a developmental pediatrician? Or if the wait is indeed a year and you're just feeling really lost, um, what do you think the best route is to go?
Well, Erin, I think it really depends on the symptoms that your child is experiencing. Um, but you know, first and foremost, get on the wait list, get that appointment, and then, you know, seek out a community. And there's a lot of social media out there that can help us connect to a community of other parents who are going through the same thing. Families are just wanting to help each other. Um, so I think in the meantime, while you're waiting, it's really good to crowdsource connect with other parents who are experiencing some of the same similarities you're experiencing.
Yeah, and I have to say, I have to add, um, because I, I think our sons are my son's 12. And your son's also 11. 11, yeah. Um, and my son has Down syndrome and a lot of other, uh, stuff to go along with it. And not only do you get on those waiting lists, but I would highly recommend staying with those doctors and continuously seeing them annually or biannually, because even if it seems like you don't need that doctor something, especially when you have complex medical needs, something can pop up later and you don't wanna have to get back on the end of that waiting list.
That's a really good point. In fact, U v a if you, um, un established care if, if you're seeing developmental pediatricians at uva, if you stablish care, which is somewhere greater than a year because they expect a yearly visit, I think depending on your diagnosis, it may be three years. I'm not a hundred percent sure on that. But if you end up lapsing and and not going, then you have to start over and reestablished care and those wait lists are, uh, right now, I think eight months to 12 months long. So, um, definitely wanna continue to go and, and there's been times where we've gone and it's like, I don't really need to go, I don't, like there's not, I'm not really gonna gain anything from it. And so you walk this line, it's like, do I wanna put my child through another visit? But, um, you know, developmental pediatricians are usually, they're, you're gonna do a lot more talking and they're real engaging. I mean, our experience has been wonderful. We see, we've seen quite a few at U V A, um, our, our current one is Dr. Frazier, um, and she is really engaging with my son. Um, she, you know, really, um, connects with him. So it's, the appointments aren't, aren't, um, too traumatizing for him at all. Um, but keeping those up with those appointments are really important cuz they have been hugely impactful for me when it comes time for things like writing IEPs.
Absolutely. And I find too, if, if your child has a condition where certain things are common, so for instance, with Down Syndrome, it's common to have thyroid issues, even if your child doesn't have set issues at that time, perhaps seeing an endocrinologist annually, if those issues crop up, you can be on MyChart and message and do all the things you need to do if something hits the fan. Um, but now we're going on this huge tangent and I wanna get back to Charlie and your story. Thanks. So please start, start from where we left off.
All right. So we, we got in with our developmental pediatrician and he recommended, um, he offered, do we wanna go the route of genetic testing. Um, so it wasn't like, what, you know, you must do it, it was offered to families, which is really important. Genetic testing is something that families should be consented to. Um, it shouldn't, you know, some people don't wanna go that route and that's, you know, totally their choice. You know, I, as a, um, a nurse at this point, I was, um, I was still a nurse. I was in grad school getting, um, my master's, um, and I, um, really wanted to find out all the reasons why like I needed, I needed to know the answers. So we did go the route of the geneticists and we had our first appointment about four months later. Charlie had a microarray done, a chromosomal microarray.
And the first, um, test that result we got back from the chromosomal microarray showed that Charlie had a micro deletion of a gene called a U T S two or OTs two. Um, and that gene was, was recently, uh, discovered and there wasn't a lot written about it, but over the course of a couple of months, paper started popping up. And as I'm reading, um, about this, um, genetic syndrome, I'm finding that almost all of the cases RF kids with small heads or microcephaly and Charlie had macrocephaly or a large head knowing that that's kind of a major difference in development. I wanted to question, I questioned like, maybe this isn't the right diagnosis. So I did some research and I reached out to some of the, um, doctors and researchers that have written articles on OS two. I shared with them Charlie's genetic diagnosis, um, sheet from MyChart from, um, from our hospital.
And, um, you know, waited. I emailed and waited to see if I'd get any responses. And sure enough I had two, um, experts and s to respond back to me. And they said that they would recommend Charlie getting whole exome sequencing, that they did not feel that, um, s two really fit Charlie, um, and that we should continue to seek out a different diagnosis. Um, meanwhile, I, um, with another, um, parent, I'd started a Facebook group frauds too, because there was nothing out there. And again, I wanted to connect with people. Um, I had a lot of friends, uh, a couple of friends, not a lot of, couple of friends that had kids with Down syndrome and I had attended some of their, um, community events and the, like, it was just amazing to me to see this community come together. Um, and, you know, we always, we wanted to participate because of that feeling, but like, I still, you know, that wasn't Charlie's diagnosis.
So finding our people was really important to me. Um, and so we started this group, um, and, uh, that group has really grown and since, um, over the years I've kind of transferred the, um, leadership onto other families. Um, and we continued our, our, um, diagnostic odyssey to try to find, uh, the right diagnosis to fit Charlie. At the time, whole exm sequencing was not being offered. It was like in the beginning research stage, there were places across the country that were starting to do it. And you know, as I'm trying to figure out can we get this done, I'm hearing back from our team at UVA that they're not offering it yet, and then they're only offering it if insurance is covering it. And at that time, our insurance was not covering it. So again, I went out on to social media to try to see what I could do and just reaching out to other parents across the country on what their experience has been.
And I found out that, um, the lab, gene Dx was running these tests for, um, not free, but they were, um, at least trying to bill your insurance and then they were rebilling, um, and kind of running, like doing the fight for you so you didn't have to do all of that. And when it came down to it, by the time we finally got it done, our insurance, um, and Gene DX ended up covering it. So we didn't have any out-of-pocket at the time. It was a $28,000 test. Um, it's, it's much more affordable now, but it's still, it's not, um, free, um, to everybody. And, uh, and so, you know, accessibility, um, was a big issue for us and it took over a year and a half to get the right testing done for Charlie. But then we got the whole XM sequencing and it came back normal.
And so of course I was a little bit disappointed, you know, we went through all of this and we get this test that's normal. But when I say normal, what it had was a, uh, variant on the gene mTOR that was unknown, unknown significance. So what I was told is it's normal. You're gonna, there's always gonna be a gene of unknown significance with a variant that happens on everybody if normal. Okay. I ended up reaching out to, um, the same doctors that I had talked to, um, previously about OTs two syndrome, just to kind of pick their brain on everything. And at the exact same time that this was going on in the background, another Dr. Lori Smith, discovered a child who had a variant on mTOR, and she actually published a paper on it. Her and her colleague Dr. Kingsmore, they described in the literature a mutation of the gene mTOR that, um, caused some symptoms that were so similar to Charlie as this information is all kind of coming together.
Our geneticists at the time reached out and said, Hey, we're gonna ask the lab to rerun it, rerun your test. Which when Gene DX reruns your, your whole exome sequencing, they don't actually need another blood sample. They can just rerun it against their database. And when they rerun it against their database, we again got back variant of unknown significance. All right? So we've now had it done twice. There's this variant of unknown significance. There's this paper that's been written about Smith Kingsmore syndrome, we yet to find anything out about this. And I thought, okay, I, I kind of had closed the book. I was like, all right, Charlie's just unique. He's rare. I, I'm not sure what we're gonna do, but I'm just gonna move forward with what he needs, which is the therapies to help him meet the milestones that he's, that he's able to achieve. And to just get past that point of grieving the like why and what, and move forward with, okay, we have to have action to make things better. Um, so we kind of threw ourselves into therapy. We were already doing a bunch of therapy and just rolled with what, what we needed to do to, to really help Charlie be the best that he could be.
I'm gonna have you pause there because you mentioned the grieving, right? And you know so much here about all the things and, and so many families like ours, like, we have to go into this mode where it's research and advocacy and research and advocacy and fighting for this and insurance and paperwork, and it's a full-time job. So I wanna pause and I wanna know at this point, you know, you are going through all of these things and so how are you at this time and how is Charlie at this time? I mean, at this point where you are in the story, can you tell us how long the journey's been and how you're holding up? And I wanna know about motherhood in these conditions because I know for me, having my oldest have a disability and having two younger siblings, we are robbed of so many experiences being parents that it, it just sometimes feels unfair and there are a lot of emotions that I feel like we brush off. So I wanna know where you were at this time emotionally and where your family was and how you all got through this while you were doing all these things on top of being a mother, on top of being a professional. How were you?
Um, well, you know, it was, it was a difficult time for me for sure, and I was in therapy. Um, I, that was one of the things that I did for myself to kind of work through that grieving process of, um, you know, grieving what, um, what I expected out of the pregnancy, what I expected out of my newborn, a period. And that, that really helped me. And I, I worked through, um, with my therapist, I worked through, um, that grieving process. Um, and, you know, I just started trying to take better care of myself and also taking, you know, really kind of putting myself, really putting everything I can into helping Charlie. And by doing that, I, that actually ended up kind of being like therapy for me because I, I was able to put aside the, we can't figure out the why, but I actually can do something to, to help.
So this was about 2015 was when we had the second whole exm sequencing result come back as variant of unknown significance. Charlie was four, almost five years old, he was in school. We were seeking out, trying to find a diagnosis, a school diagnosis for him where he could get the services that he needed. So we went back to the developmental pediatrician with some of the concerns that his teacher and I had, I really was seeking, you know, is, is seeking out, is this autism, is Charlie, is he autistic? And, you know, our first, um, visit, our doctors weren't too sure, but after about a year, you know, his, his signs of autism really did start to show. And so he was diagnosed with autism and that really helped us be able to work with a specific i e p team at, at his school and get him the services that he needed to. Um, but you're right, Erin, it, it was like a full-time job and you know, they're doing that on top of working full-time. At this point I had graduated, I was a nurse working as a nurse practitioner, really managing my child's day-to-day life. And this therapy's on top of that. There was a time period, o o over about two and a half years was when Charlie was getting 20 hours of therapy on top of school. So outside of his school hours, 20 hours a week of therapy. You
Serious?
Yes. So we,
How, how did you even fit that? Cuz I thought a few days of week were a lot like how did you fit that into your lives?
So every day he had speech, P t O t music therapy. He did the hippo, uh, therapy, horseback riding. And then on top of that we had a b a. And so our a b a therapist was here, you know, for hours in the afternoon and evening. And it really, um, for us, ABA was the right choice then. It, it's not the right choice for every family. And you know, I totally respect that. But it worked. We had a really wonderful, um, ABA specialist and it, she connected us and with Charlie and really helped me as a parent manage some of his, his behavioral challenges in the home, um, so that I could be a better parent to him. Uh, I got just as much out of it as he did so did, so did my husband. It was really, um, a wonderful experience for us.
So yeah, I mean that was kind of where we were at. We were like, all right, well we have to just really try to help Charlie be the best that he can be. Um, and Charlie was such a trooper and he, like, he really worked really hard in therapy. But, you know, my mama heart was still very sad because we, he, he mis he ended up trading out play dates for therapy dates and, you know, over time not having those play dates <laugh>, I realize that now, like he, you know, he doesn't have the, the same play skills and is that because we ended up having to do all this therapy? You know, I try not to blame myself because I do think we've done the best that we can do given the circumstances, but you know, it's really hard as a parent to, to not second guess like, did we do too much? Did we not give him like the normal things that he could do? And so, you know, he, I I still feel like we did the best we can, but it was, it's been a journey that's for sure.
And wouldn't you say, I mean, in my experience, because it wasn't 20 hours of therapy a week, but I did find myself with my son taking his sibling to go to Aqua therapy and to go to all these speech therapy and I, I just, I mean I found myself getting angry, but then I also think about societal constructs and the medical constructs where really these therapies, and that's the beauty of early intervention, should be coming to the playgrounds, to the cafes. Um, so the therapists can work with our children in these settings that are natural instead of a clinic or even in the home all the time. Um, and helping facilitate some of the conversations and playing I, which I mean, again, our societal constructs in our insurance system does not really allow for that. Cuz you have to fit so many people into a day in order to get paid. But I just feel like it's, it's not a failing on us as parents. It is a failing on the way that our system is set up and our poor kids. There's this complex that they have to be fixed and um, I, I don't know, I just find it really difficult that in, in this day and age we haven't found a way to make it easier for them to get what they need but also be a child.
I totally agree with you on that. We had a physical therapist, um, Charlie's long-term physical therapist in through early intervention and we stayed with her private um, until he was eight and a half. She would take him to the park. She, we would go to the park and she would try to, you know, if a child would come over she would definitely try to do that. But that was far and few between like that just didn't happen very often.
Sarah we're going all over the place here. So let's go back to the testing and where you were with Charlie. I think you said it was 2015?
Yes. So you know, like I said, we had kind of moved on from the why and what, and we're just focusing on what we could do to help. Um, and we were sticking with our appointments, you know, our yearly genetic geneticist appointment, our yearly developmental pediatrician appointment. And we just happened to be super lucky that it's very interesting story. But one of the specialists that I had reached out to for OS too emailed me instead of the UVA a geneticist about her paper <laugh> that she was writing on OS two. And so I forwarded it to our U V A geneticist at the time and she said, let's, um, you know what, it's been a while. Let's see if Gene DX will re-look at Charlie's whole exome sequencing. And this was 2018 and a couple months went by, I didn't hear anything and then I get a phone call, the uh, genetic counselor said, Charlie's whole exome sequencing test has been changed to, from a variant of unknown significance to a variant of causing pathological disease.
He sent me the report and there was reference to Smith Kingsmore syndrome, which I had at that point. I had already read the article that had been published, um, which it was, you know, only published a couple years prior and it kind of matched Charlie, but still there were some differences. So, you know, I was hesitant to like fully accept the diagnosis and wanted to continue to reach out and see what we could do. So, um, like I had to do from the beginning, I continued to reach out to these specialists that I had met and I mean I was lucky cuz I know that families have emailed specialists before and that they don't respond because they're so busy. I get it. They have their own patient population or the emails just don't get through to them because in, you know, big hospital institutions, it's hard sometimes to reach them. And I think we just got really lucky. And again, this doctor that we were, um, that had been corresponding with in Seattle, she said, yes, this Charlie does fit that and there's a lot of new information coming out about uropathies, which S K S Smith Kingsmore syndrome is an M enteropathy. So, you know, I think you're in the right,
What is an M … what is that? And then no, it's ok. And actually I you know, I think it would help if you told us some of, uh, the symptoms as well. Um,
Sure. So, um, Charlie has a variant on the gene mTOR. So the gene mTOR is on a pathway that helps our cells and our body communicate if there's a variant, it can cause the cells to change and grow differently, sometimes rapidly. Um, and so because of that, it can cause different symptoms like large head size, large brain size seizures, um, global developmental delay, autism intellectual delay, and there's some other like hypotonia, focal cortical dysplasia. And it can cause some pretty significant changes in your M R I. And I haven't mentioned this to this point, but Charlie had had an M r I already, so we had some information about his, um, brain abnormalities that looking at it at that early prior to having the diagnosis of sks, we were told, well, there's no genetic picture that matches this yet. And that's the thing about genetics is we got told a lot of it hasn't caught up with you yet.
Like there may be something later on, you know, and I think there's a lot of families that kind of sit in that window of waiting to, for the diagnosis to be discovered are like, people are hesitant to say it's this one person has this thing. Like they wanna see that there are multiple people having the same symptoms with this genetic variant. So we, we had our diagnosis, I had a doctor that confirmed it, and then I went back to social media trying to find people that I could connect to and I did. And um, I found a Facebook group. There was like 30 people on it and I started reading and I started sobbing. I mean that was like the, the pivotal point for us. It was like these were our people, these, these families are going through the exact same thing we're going through.
Um, our, the pictures, I was like blown away. Like my son looks like these kids, like they could be siblings, um, even with different hair color, they had so many similarities and um, you know, it just like, I was happy and sad and had so many emotions. Um, but then the balls just kept rolling. Like people were motivated. We found that there were doctors that were motivated and we were able to connect with these specialists that, um, were outside of our state. And luckily we were able to travel and, and meet these doctors and other families who really wanted to start a, uh, foundation so that we can raise awareness of our small rare disease. Because living the life of, of trying to get a diagnosis for an ultra rare disease is such a long, painful journey. And if we can help others get that diagnosis earlier, then we're cutting years off of the, of that pain for them. And now we know there are babies that are getting diagnosed because there's more literature about s K s. I like to think that our foundation has had a part to do with that because we've been pushing to put information out there about Smith-Kingsmore syndrome.
It, it feels like, had there been more early on with Charlie, like with the larger head size in and of itself and what you saw, had that been associated then, do you, I mean, little things like that could have cut that journey for you down so much? No,
Absolutely. And I think, I think now in, in 2023, um, it is because we, we know like genetics has already advanced so much in just this short period of time that there are gene panels that have like seizure and large head and they're looking at, you know, specific diagnoses that match that. So if you present, if your child presents with a specific list of symptoms, then instead of having to get this whole exome sequencing approved, they can do just a specific panel which is cost efficient and helps really kind of hone in on the diagnosis. So I think we are getting to the point where it's getting faster, but there are so many of us that it took so long to get there. And there's still, I know there's still people out there that are living this journey where heir child's diagnosis has not been discovered yet. There are lots of families that are on this undiagnosed journey and hopefully as more time goes on, you know, they'll be less and less. But I think we're gonna be sitting in a, in a time period where genetics is gonna rapidly change.
I mean, yeah, I wrote this article and we'll put a link in our, in our stuff for y'all that are listening, um, interviewing you and some doctors and, and I mean it is, it's changing rapidly and it's advancing rapidly, but it's still, you know, for families that are in it, it feels like a snail’s pace. And I can't help but think, you know, there's so much more information now. But what about those families who don't have the privilege that you and I have who are working two jobs who English is not their first language, you know, who are single parents and just don't have the health insurance or the time or the resources to do the research. Is there anything for them? Like is there support for them and, and how do we do better getting this information out to those who, who don't even know where to start looking?
You know, Erin, these are such great questions and I know that there's some work, um, that the, that your center's working on that V C U is working on that are hopefully gonna be helping lots of families in Virginia. I think, you know, social media, I mean, is is definitely a way to help families connect, but we're still kind of missing out on, on ways to really reach these families that wouldn't even go to the doctor to begin with, to, to kind of get the ball rolling and, you know, I think reaching out to or have like having our, our pediatricians be able to have a way to get these families to connect to other families. You know, whether like, especially like not even thinking of a specific diagnosis, but like if our, if our pediatricians are concerned that there may be abnormal or development of a, a child, like connecting them to another family so that they have support, um, because those of us that have been through it, like we wanna support other people, being able to do that in some way, shape or form, I think would be, uh, amazing. But right now, um, I'm not really sure of all the ways that that, I mean, I don't think there's a lot, that lot going on besides the work that you guys are, are getting ready to start, which I think is gonna be incredible for Virginia.
Well, yeah, so the Center for Family Involvement, not only do we have a family navigator program that helps families, um, we match families with similar conditions. So if you have a family who has someone with Down syndrome, a child with Down syndrome, we find a parent through our volunteer program to match who you can talk to. But the beauty of it is we have so many different rare conditions, right? But also cultural differences. And we, we take great effort to find people to find their people, not just with whatever disorder they may be dealing with, but whatever cultural sensitivities that go along with it. And then yes, we have just launched, um, a genetic navigator program, um, which does something similar but with these specific questions about genetics. But, you know, it, it is, it is one of those things where we're there we have help and uh, it's, it's that not everyone knows where to look.
And I think the beautiful thing, you know, we're talking about S K S and we're talking about the Center for Family Involvement, and we can talk about autism and Down syndrome, but I always stress to people that we don't silo ourselves because disability is, is still just such a small minority when you look at our country and our world, right? And developmental and intellectual disabilities are even smaller. And then when you look at rare diseases, according to the National Human Genome Research Institute, there are around 350 million people on earth with rare disorders. So this is a disorder or condition with fewer than 200,000 people diagnosed. And about 80% of these rare disorders are genetic in origin, and 95% of them don't even have a single treatment authorized and approved by the F D A, right? So when we're talking about these things that we're dealing with, it's great to find our people.
And I do like, you know, like I'm sure with S K S, you, you have this, these niches to talk about. And whenever I meet a parent of someone with Down syndrome or a person with Down syndrome, there are certain things we just know about because it's so common within the condition. But when we talk about the bigger movement in helping families and, and helping understand rare disorders, uh, I mean it's, I I I cannot stress how important it's that we work together. That's why I love having this conversation with you and learning so much more.
Yes, I think it's so important that we are supporting each other, um, regardless of what the, our child's diagnosis is because we're going to experience the same challenges, access to medical care, access to specialists, how to write that I E P for certain challenges that your child is going through, how to navigate the transition time period when your child, um, is becoming an adult. So there's so many challenges that we're going to experience that have really nothing to do with our specific diagnosis, but do have to do with those larger symptoms that our, our children's share. And so together, you know, we can really kind of make a bigger impact, not only with our own children, but with helping others. I really think it's important to give back to those that are starting off the journey, not just how to find the diagnosis, but how to access things in their community that can help their, their child, help their family to be able to, you know, have just a more quality, better quality of life.
Absolutely. And you know, something you said earlier really struck me because it's so common with so many families, is that you have to have a diagnosis to, you know, for your I E P, which is just, it's such a ridiculous thing that schools put upon families. A developmental delay is a developmental delay. We don't need to categorize it into a certain diagnosis or ID or DED or whatever, ed. I mean, it's, it's categorizing and labeling is doing such a disservice if we could just treat the student and not worry about, uh, uh, it just, uh, it's baffling individualized education plan. Look at the individual, the diagnosis should have nothing to do with it.
Well, Erin, I think we could have a whole other podcast about IEPs, <laugh>,
I think you're right.
And the challenges that we face in, in, in Virginia and probably in every state, but yes, I I we have been fighting that battle and it's, it is very true. Like the labels do not really define our children. Putting the resources together to help each child meet their milestones and be able to access their curriculum and access their surroundings and be a child is what really the focus should be on. Hmm,
Absolutely. And you're right. I, I could dive into this and that is a whole wormhole that I'm gonna keep closed because we need to, uh, we need to do an entire podcast on that. Sarah's the, the thing that I see in my family and, and some of the struggles I see have nothing to do with my son with a disability. It just has to do with everything that goes along with it. Like we've been talking and my son has, or so my son, I have three children and, and Arlo, my oldest has two younger siblings. And I see how all of the things that I have to do to support him, impact them, and they roll with it so easily because it's just part of their life. But sometimes they do feel it. And I think you kind of have the opposite, right? You have two older children. I mean, how has that journey been for them? Like, how has it been difficult? Are they understanding, are they supportive? What's that been like as a whole family?
I mean it's, you know, when you have a, a child that is, that has struggles with either developmental delay or intellectual impairment, autism, any, any diagnosis like that, it's a family affair no matter what. Right? So I think having a younger child when therapy started, um, you know, he was an early intervention. So we, I did everything during the day while my kids were at school. But then as he aged out of early intervention and went into the public school system, everything became after school. And so it was very taxing on everybody. We had to divide and conquer often, um, where one parent is taking one child to do their extracurriculars and the other parent is doing the therapies. And I had three kids. So my middle son Brady often went with me and Charlie to do the therapies. So he has really kind of been living the life of, um, of that, um, right next to Charlie, like the longest where my oldest older son was, is five and a half years older.
So he kind of already was, you know, on the path of what sports he was into. And, and so we, we, you know, divided and conquered. We luckily, um, had grandparents that live in the area, so they also were able to help. But there were times where we had no help and it was just us. And that becomes a true family affair. I definitely recommend looking to your therapy centers, to your pediatricians to find sibling classes. You know, we did those over the years. Both of my kids participated and they were always really helpful. Empathy is is something that comes from within, but also sometimes kids need to be taught a little bit about empathy and going to those classes, I found that my kids came back like refreshed and more, had more of an understanding and also making sure that they had time for themselves too. And even if that was, once I put Charlie to bed, I did movie night with just my older two, cuz that was all we could manage to, to pull off. I make sure that we have time for each child, but that's, it's an exhausting task as a parent to, to do that. You know, I definitely feel for, for all parents that are going through that,
It's really hard. I find myself struggling and realizing that I need to like find someone to be with my oldest who's 12, who should be able to stay home alone so I can spend time with the other two. Sometimes he, my oldest just will not do something. And it, it really, like, you can be out like exploring a town and looking at shops and he'll just refuse and wanna go home and there is literally no stopping him. And so, as hard as it is to like, not have him included, sometimes it's the best thing to do for the other two to experience things that they wanna do. And it's just, it's such an inner conflict dealing with this all the time. And especially when, like, we don't have family nearest, we have no supports. Every support we have is hired or asking a friend to do a favor that I might not be able to return. So I don't wanna ask them.
Yes, I to I totally understand that. And it's, it, you know, anything that we do in this house after seven o'clock is not with Charlie because that is the, that's the bedtime for him. And if we vary from that bedtime, then we do not have the best version of Charlie. And, and no, it's not fun for anybody. Um, so Erin, we, that happens to us a lot also, and there's a lot of inner conflict as a parent because you, you know, and I, I try not to, um, look at other families who are experiencing those things as a whole and rec and, and then, you know, you realize that you're not able to do that as a whole. Um, because I don't wanna put myself back in that cycle of grief, but it's very easy to, to be able to compare.
It really is. And I love that you said that, Sarah. I love that. You know, you just don't compare because it, it can be hard, especially like hanging out with my brothers and their kids, and it's just seeing how different their life is just by some chromosomes, you know, it's, it's really interesting. But yes, the but there are things that they'll never get to experience. There's joys and struggles that are so unique that they'll never know. And I guess that's the beauty of finding your people, right? Because you can share with them. And I wanted to ask you too before we run out of time, because I think what is unique about a lot of groups that we find, and what I heard when I spoke with someone that works with your organization is how much the doctors learn from parents like us because we are so busy researching because we have to, because there is no research out there on some of the conditions that people face. So as parents, we are as much a part of the medical teams in many cases as, as the doctors. I mean, has that been your experience?
100%. First of all, my advice to other families are if you are not being treated at that level with the, the team that you're working with, seek another team. Especially when you're on the journey to a diagnosis, you need to be heard and you need to be respected. And you know, people are human. You're not always gonna have that path. So if you're not finding that path, I recommend trying to seek another team, seek another specialist if you can, because you definitely need to be heard and respected in order to help your child get to that diagnosis. I, I mean, I've l I've learned from so many of medical professionals over the years, not just about Charlie's diagnosis, but others. And many times the ones that are, that stick out to me are the ones that always say, I learned from the families. The families are teaching me along the way. Um, you want that partnership, that partnership is so important. You want to feel that they really do understand and and want to help you.
Yeah. It's, it's amazing to me the relationships that you form with doctors and nurses and other professionals because of this. And I, I had to like, I was someone who never needed to see a doctor and then all of a sudden my first child stopped moving and emergency c-section and, and like my whole world flipped upside down. Right? And now I'm like talking to doctors all the time and I've learned so much. They're not like on this pedestal that we put them on. And one of the most important things I think, that I learned from one of my son's specialists is that it's a lot of guesswork and you don't realize that like they're just throwing things against the wall hoping it helps. My son has immunology stuff going on that's so complex and not understood that it's not even an official name for it. Right. And one of the doctors I worked with, I was like, can I read something? I wanna understand what these blood levels mean. He's like, there's no research to read on this. No one's been able to even see this before. This is first. So yeah, if you have a doctor that's dismissing something you're saying and doesn't wanna listen and, and doesn't take your concerns seriously, find a new one.
Absolutely. But easier said than done, especially if you have insurance that dictates exactly who you're supposed to go to or, um, you have language barriers so you don't even understand how to get, get to the, the other, um, specialists that could possibly see your child or see you. It's definitely part of the journey and it's hard, but I think that's where family supports groups can come into play. Or you know, what the Genetic Navigator program where you have, you know, if somebody is let, if somebody tells me in the beginning their journey that they're struggling, even with like early intervention therapists, I always say, if it's not a good fit for you, then it's not gonna be a good fit for your child. Like, you gotta make sure that you feel good about it because you want to learn from them and you want them to help your child. So I always try to give that advice to families when I'm paired up with, with somebody who's starting a, a new journey like this.
I think that's why it's so important to find a group to get your ideas and push them off on somebody else. So whether it's the Center for Family Involvement or like you said, you could, I mean, our communities, our individual communities are so accepting. If you have something going on and you don't know what it is, you will be welcomed. People will bend over backwards to help answer your questions. I've found that over and over again. They just wanna help because they know how hard it is. It's just reaching out.
Yeah, absolutely. Together we're stronger. Right?
Together we're stronger. That is so spot on and the perfect way to end this. But before we do, Sarah, is there anything that you'd like to add?
No, I think, you know, this is, this is a really important topic, uh, to put out there so that people know, um, how to get started, um, what somebody else has gone through and, um, what to do when you're on this journey. So I really appreciate all that you're doing to kind of highlight and raise awareness to, um, you know, walking this diagnostic odyssey to getting a genetic diagnosis, especially of rare diseases.
Well, thank you for your work in helping people find out, I mean, patient registries and working with specialists and having medical professionals be a part of your organization. I mean, this is just, this is just so important and, and it's so inspiring, um, your work. Thank you.
Well, thank you very much. It's, you know, it's really important to me that, you know, we raise awareness not just for s k s but for, um, for rare disease in general and for anybody being going through this journey so that we can kind of help them and shed some light on what we've gone through.
Excellent. Thank you Sarah.
And thank you listeners for joining us. We're just getting started and cannot wait to bring you more. Please rate, review and share and tell us what you wanna hear about. We've got tons of topics in the pipeline and are always welcome to ideas. You are listening to The Odyssey: Parenting. Caregiving. Disability. I'm Erin Croyle. We'll talk soon.