Rare Disease Report

Raising a Child with 2 Untreatable Rare Conditions

MAY 23, 2016
Allison Jones

In this interview with Allison Jones at the Rare Disease Foundation gala, Allison talks about her son who has 2 rare conditions – polymicrogyria and Weaver syndrome.
Polymicrogyria is due to abnormal development of the brain in which there are too many folds in the brain (gyri), and they are unusually small.  The condition has a spectrum of severity depending on the extent of the folding but in more severe cases, there will be major neurological problems, including severe intellectual disability, problems with movement, and seizures that are difficult to manage.
Weaver syndrome is characterized primarily by tall stature but other signs and symptoms may also be present (macrocephaly, intellectual disability, distinctive facial features, camptodactyly of the fingers and/or toes; poor coordination, soft and doughy skin, abnormal muscle tone). Children with Weaver syndrome may be at increased risk for neuroblastoma.

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