Leukodystrophy Center Patient Stories
1 - 5 of 5
Weston’s Story: Management of 4H Leukodystrophy
Leukodystrophies are a group of conditions that affect the white matter of the brain, or the myelin sheath, which surrounds and protects the nerve cells in the brain and spinal cord and assists with transmission of messages between cells.
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.