Tag Archive: Adeline Vanderver

Jan 16 2019

Super Sleuths to Unravel Perplexing Pediatric Cases in Undiagnosed Diseases Network

Dealing with a mystery illness that doesn’t appear to match any conditions described in medical textbooks can entangle families on a diagnostic odyssey for years and even decades. Dozens of examinations, a barrage of tests, multiple misdiagnoses, and trips in and out of hospitals can leave them exhausted and no closer to knowing what is wrong with their child.

Those struggling to find a diagnosis can now turn to a new team of super sleuths from Children’s Hospital of Philadelphia and the Hospital of the University of Pennsylvania who are ready to unravel these perplexing diseases, in both children and adults. The two institutions received $2.5 million in research grants from the National Institutes of Health as a newly designated Undiagnosed Diseases Network (UDN) site.

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May 31 2018

Drew Norton and Family Drive Leukodystrophy Research Forward

It’s been a big year for 8-year-old Drew Norton and his family.

Clinicians at the Children’s Hospital of Philadelphia Leukodystrophy Center diagnosed Drew with a rare genetic disorder nearly 12 months ago. Since then, Drew and his parents, Christy and Jason, have embarked on what they now call an “amazing run.” After years of misdiagnoses, they finally learned that Drew’s difficulties with movement and speech were caused by a specific leukodystrophy, a group of disorders that affects white matter in the brain. Though the Nortons are still learning more about the disorder and how best to manage it, the diagnosis has served as a baseline for a series of victories, both big and small.

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Nov 22 2016

Leukodystrophy Research, Advocacy Mission Critical for New Program Director

LeukodystrophyDr. Vanderver, a child neurologist and geneticist, helped to pinpoint a rare subtype of leukodystrophy, a group of inherited degenerative diseases that affect the white matter in the brain and spinal cord.

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