Back Story

Mitchell was diagnosed with Niemann-Pick disease type C in December 2008. He had been having medical issues since he was about 13 years old. We noticed slightly slurred speech, a little clumsiness, and minor memory problems. At about 15 he started having drop attacks when he laughed. This affliction is called Cataplexy and causes loss of muscle tone whenever he laughed.

Along with these symptoms we noticed his fine motor skills began to change and slight problems swallowing. Finally the doctors were able to put all the symptoms together and test him for NPC. NPC is a lysosomal storage disease in which excess fats and cholesterol are not properly metabolized in the cells of the brain and other organs. This causes a buildup in the cell and eventually kills the cell. The effect of brain cells dying causes the neuro-degenerative symptoms. It is a progressive disease, but there is no way to measure how it will progress in each individual patient. Mitchell's symptoms are relatively minor at this point, he can still walk on his own, talk and eat. He has a little difficulty with these things but if you didn't know he was sick you might not notice.