Florida Fact Sheet
By the time he reached 15 months old, Everett hadn’t begun to walk.
His parents, Barbie and Ryan, were concerned; his older sisters had started walking much earlier. But he wasn’t out of the normal age range of when babies first start to walk, so there wasn’t huge cause for
concern. By the age of 18 months, he had a wobbly, unsteady walk. The pediatrician thought he had flat feet. Everett spurned the special high-top shoes that were prescribed. Shortly after trying them, he never walked again. Then his parents and doctors became incredibly concerned.
Everett was referred to a neurologist, physical therapy, speech therapy, and an MRI. The MRI appeared normal. His therapies, along with a supplement to help his carnitine deficiency, seemed to help. His symptoms improved for a little. But in November 2021, after referral to a geneticist, whole genome sequencing revealed the nightmarish disease that caused Everett’s symptoms: metachromatic leukodystrophy (MLD).
Everett underwent a bone marrow transplant in January of 2022. The doctors told Barbie and Ryan that he would be out of the hospital by March. But he never left. After 160 days in the hospital, Everett passed away in May. The chemotherapy from the transplant left him immunocompromised, and a virus (CMV) plus pneumonia overwhelmed him. To Barbie and Ryan, newborn screening would have meant they could have caught the disease earlier.
