Claire and Shep's Story

In recognition of 2024 Rare Disease Day, I want to share Claire and Shep’s story. Claire, now 9 and Shep, 7 months old, were born with a rare inherited metabolic disorder called MCAD. Their bodies can’t break down certain types of fats to use for energy. So they get their energy from food/drink, but when that fuel runs out, they have little or no reserve source for energy. If calories aren't replenished, there is a risk of metabolic crisis with hypoglycemia, and serious complications such as seizure, breathing difficulties, liver problems, brain damage, coma, and sudden death.

This means that fasting is dangerous and viral illnesses, fevers, and stomach viruses especially, can result in a serious metabolic crisis for Claire and Shep. This also means that I am very cautious about germ exposure for them and for their brother and sister who do not have MCAD because they tend to share illnesses.

There is no cure for MCAD. Claire and Shep will always have it. They take a prescription to help prevent the buildup of toxins from fat on their liver, heart, brain, and other organs. We also take special precautions when they are sick to help prevent crisis.

Claire was diagnosed when she was just five days old thanks to newborn screening. Shep was diagnosed on day 3 before leaving the hospital. Newborn screening saves lives and we are so thankful that we have known about their MCAD. Without screening, 1 in 4 will die at their first illness. Thankfully Claire had been eating well and frequently during her first few days as some babies die while waiting for their screening results. Because of Claire’s diagnosis we treated Shep as if he had the deficiency until his newborn screening came back! It was expedited quickly, and results returned before we even discharged home.

I vividly remember receiving a phone call from Frankfort that there was an abnormality on Claire’s newborn screening, and we needed to feed her every three hours to prevent death. Our pediatrician was not familiar with MCAD and only knew what he had just been told by the genetic counselor who had contacted him. Like any parent, we went straight to Google, and what we found terrified us. Claire is a spunky, smart, beautiful, and happy child with MCAD. Shep is a happy baby that keeps a contagious smile and loves to chew on any and everything! We are beyond blessed to call these sweet rarities, ours. Our goal is to educate others and share their story because it might someday save their life or someone else’s!

Mom, Stephanie Terry Taylor

Kentucky, Stephanie.taylor@ky.gov