Martin Parise (31 years old)

CACH Syndrome

Martin has been affected with this disease since birth. This form of leukodystrophy has progressed slowly, which allowed Martin to complete high school and even drive a car.

Martin has been confined to a wheelchair since he was 20 years old, because his mobility problems worsened to the point of preventing him from walking normally. What is more, the evolution of this disease has caused him speech problems, which prevents him from communicating easily.

After researching this disease for years, we finally went to the research center of the National Institute of Neurological Disorders and Stroke in Bethesda, Maryland. That is where Martin had a brain biopsy performed. The samples were then sent to France to confirm the diagnosis of CACH Syndrome.

- His mother.