A Mother's Diary - is it Autism? What is Niemann-Pick Type C?

Published 21 months ago

At 18 months we began to notice that she was not quite keeping up with other kids her age. Her fine and motor gross skills, speech, sight and hearing were tested. Mild Cerebral Palsy was mentioned. The Behaviorial Pediatrician worked with us for 1... more

At 18 months we began to notice that she was not quite keeping up with other kids her age. Her fine and motor gross skills, speech, sight and hearing were tested. Mild Cerebral Palsy was mentioned. The Behaviorial Pediatrician worked with us for 1 year, and ruled out Autism. The Geneticist and Neurologist after 2 years, and countless blood tests, EEGs, MRIs and CT scans, everything was negative, except that Gabrielle was having "absence seizures". Seizure medications were discontinued after Gabrielle could no longer hold a fork or sit up. We tried the best doctors in Orlando, when finally we went to Jacksonville and met a Neuro-Muscularist. Her Geneticist thought she had mitochondrial disorder. 4 months later, everything was negative.... see the video for more details http://www.GabrielsGift.com less

Tags: gabrielle laverde autism autistic cerebral palsy developmental delay niemann pick type c neiman fatal terminal disease child infant parent family death dying incurable johns hopkins neurological cholestoral lipids speech mother