Funding for Genetic Neurological Diseases
My name is Phil Rhodes I am 50 years old and on 2/11/2014 my sister and I were diagnosed with a rare disease called GM-2 Gangliosidosis (Late Onset Sandhoff Disease).
Sandhoff is a progressive neurological genetic disorder caused by the absence of two vital enzymes, which affects the central nervous system and is deadly in the infantile and juvenile form. It is one of over 50 genetically inherited disorders known as Lysosomal Storage Diseases, and there is NO CURE!
After I was diagnosed I made a promise to do all I could to help find a cure.
From age 8 to 18, I often remember telling my mother of the sensation of pins and needles in my hands and feet, she took me to the doctor and he didn’t have any answers and I don’t remember getting any test done at that time. I continued going from doctor to doctor and getting no answers except “It’s all in your head.” At age 24 I found it difficult to climb stairs, get up off the floor, and stand from a seated position, I also couldn’t squat and stand without using my hands to get up. I was now 39 years old and told my new doctor my concerns and he referred me to a neurologist who examined me and scheduled an EMG, after the test was over he said it was abnormal and suggested I go to Johns Hopkins and made me an appointment. At Johns Hopkins I went through numerous MRI’s, EMG’s, blood test, nerve and muscle biopsy, and neurological exams for 5 years without a diagnosis, all they told me was I had an inherited genetic neuropathy. In 2012 I found a study on neurological disorders online at The N.I.H, after reviewing my medical history they wanted some family members to come and have genetic testing done, after a year and a half and forty years total, I was finally diagnosed with Late Onset Sandhoff Disease.
Please help us find a cure!
Thank you. Phil