Rare Diseases Can Impact Anyone

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 conc