Our son, Elijah, was born on September 18, 2019. At the time, Texas had only recently added ALD to the newborn screening panel. When Eli was just five days old, we received a call from our pediatrician about an abnormal result and the need for additional testing.
Trying to understand such a complex diagnosis while caring for a newborn was incredibly overwhelming. Through it all, we continued to come back to one thing—we were grateful to have this information early so we could take the necessary steps to monitor Eli’s health.
As we underwent further testing, we identified 14 additional family members with the ABCD1 mutation, including three young boys—Jackson, Kane, and Keaton—who required immediate evaluation. Like Eli, they are now being closely monitored, and we are incredibly grateful that early detection has allowed each of them to receive the care and surveillance they need.
Today, everyone is healthy and continues with routine monitoring, including regular bloodwork and MRIs.
We share our story in hopes of raising awareness and supporting continued research and awareness. If you feel led to give, any donation—big or small—helps advance critical research for ALD. And if donating isn’t possible, we would love for you to join us in the ALD walk/run and be part of this journey with our family.
