Community Voices Spotlight
Kasey Apt
Mom of Tinley, ASMD
Tell us a bit about you and your family…
Hi everyone! I am Kasey Apt, and my daughter Tinley (ASMD) is 10 years old. Our family lives in a little town called Montpelier, Ohio, out in the middle of nowhere. We love going to the lake together as a family, going to hockey games, and serving in our church together. My husband, Thane, and I have three children: Tinley, Addaley who is 8, and Brentley who is almost 12. We also have a furry pup named Chett, who is Tinley’s very best friend.
Sharing Your Family’s Diagnosis Journey
When Tinley was about 3 years old, she had an enlarged belly, and my mama heart knew something wasn’t right. So, I asked her family doctor run a few simple tests to check for celiac disease or similar conditions, especially since her cousin had just been recently diagnosed with celiac. It didn’t come back positive for that, but the doctor could definitely tell something was still wrong and referred us to a bigger hospital about an hour away.
After one visit and an extensive series of tests, we returned for the results and were then referred to an even larger hospital in Cleveland. At this point the Cleveland Clinic Children’s gastroenterology team saw us and gave us three possible options, with Niemann-Pick being least likely. By the grace of God, the genetics team had an opening at that very moment and came up to see us. They recommended genetic testing and that is how we got our answer, confirming the diagnosis of Acid Sphingomyelinase Deficiency (ASMD).
How did you first learn about the National Niemann-Pick Disease Foundation?
I learned about the NNPDF by researching online and through a referral from Sanofi.
What motivated your connection to the NNPDF community?
I want to help people get through one of the hardest times of their life. When we got our diagnosis, we had nothing to help us because medication was still in trial and they weren’t accepting anyone. It was easily one of the hardest times in our life. And I believe God has brought me through it and here to help others through it.
I love the idea of helping others who are starting where I once was – scared and just looking for connections, support, or someone who can truly relate. Having people to talk to who understand what we go through means so much. No one understands us like each other and supporting one another is what this community does best.
How has being part of the NNPDF community supported your family?
I have had some amazing people help me along the way. I’ve called them crying and even though they are states away it felt like they were right there.
What advice would you share with a newly diagnosed family?
You know your child best!! My child does not fit in a box, and you will know more than most doctors. So, do your research and hold your grounds for your child! Their fight is your fight!
What are your biggest hopes for the future for your family and the Niemann-Pick community?
That one day there will be a pill form and my child will not have to be poked all the time! Something more for her. She deserves it!