When a child is sick or missing developmental milestones, we immediatly start searching for answers as to why.

But what happens when test after test just leads to more questions? 

Rare diseases are more common than we realize; research surrounding them is what's lacking. 

We're shedding light on what so many people go through by sharing the story of one family's diagnostic odyssey.

 

The Odyssey: Parenting. Caregiving. Disability. 

The Center for Family Involvement at VCU School of Education's Partnership for People with Disabilities provides informational and emotional support to people with disabilities and their families. All of our services are free. We just want to help. We know how hard this can be because we're in it with you. 

 

SHOW NOTES:

The Center for Family Involvement offers specialized one to one support specific to rare diseases through our Genetic Navigator program. 

Learn more about rare diseases and Rare Disease Day.

Smith-Kingsmore Syndrome Foundation

 

 

 

TRANSCRIPT: 

Welcome to The Odyssey: Parenting. Caregiving. Disability. 

I'm Erin Croyle, the creator and host. The Odyssey podcast explores how our lives change when a loved one has a disability. It's a seismic shift I experienced myself, when my first child was born with Down syndrome in 2010. 

Now I work with the Center for Family Involvement at VCU's Partnership for People with Disabilities.

This podcast explores the triumphs and the hardships we face. 

One of the hardest things families go through is the diagnosis itself. 

There are an estimated 300 million people with rare diseases worldwide. A disease is considered RARE when it affects fewer than 1 in 2,000 people. 

Lack of scientific knowledge often leads to delayed diagnoses and inadequate treatment and care. All of this places a heavy social and financial burden on patients, and in turn their caregivers.   

To highlight these issues and in honor of Rare Disease Day this February 28th, I dug deep into The Odyssey vault to revisit my   interview with 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 President of the Smith-Kingsmore Syndrome Foundation. Her now 13-year-old son Charlie is one of less than 300 people living with SKS. The story of their diagnostic odyssey is just one example of what so many families go through.

 

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