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.
Patient stories
Leukodystrophy Patient Stories
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.
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.