Weston’s Story: Management of 4H Leukodystrophy
It took many doctor visits and diagnostic tests before a genetic test came back positive for leukodystrophy when Weston was 3 years old.
Leukodystrophy Center Patient Stories
The Leukodystrophy Center at CHOP includes a broad team of specialists dedicated to providing care, testing and treatments to infants and children with inherited white matter diseases.
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Khymir’s Story: Gene Therapy to Treat Cerebral Adrenoleukodystrophy
Khymir is a 4-year-old boy who was found to have adrenoleukodystrophy (ALD) through Pennsylvania’s newborn screening.
Natalie’s Story: Novel Treatment of Aicardi Goutieres Syndrome
Natalie could walk, talk, and was ahead of all milestones for her age. Then, when she was 18 months old, her parents, Nicole and Patrick, noticed her lifting her big toes off the ground when she walked, as though she had a splinter or cut on the bottom of her foot.
Katie Grace’s Story: Whole Genome Sequencing to Diagnose Leukodystrophy
Katie Grace’s balance and mobility issues were a mystery until a neurologic issue was identified as the cause. Whole genome sequencing through a clinical trial led by CHOP’s Leukodystrophy Center provided a clear diagnosis and a plan forward.
Leukodystrophy: Chloe’s Story
After years of searching, Chloe’s family found support at Children’s Hospital of Philadelphia, where doctors identified the cause of her rare form of leukodystrophy.