Diagnosis

[Tjg18676]

Dylan finally got his diagnosis today and I have never heard of it. He has Lhermitte duclos disease or dysplasic cerebellar gangliocytoma. Has anyone heard of it or has it. Doctor has never seen it in Dylan's age. Feeling so upset

[suzie44na]

Hi, I have never heard of this either. I do not think doctors know much when it comes to rare diseases, I am still looking for a diagnosis 22 years later. I hope and pray they find cures and maybe they will doing genetic studies. I joined the 100,000 genome study for rare diseases, hoping they find cures for everyone. Try to find as much as you can about this disorder, that is what I would do. It is hard when not much is known about disorders and people can feel so alone. Try to find good specialists too, ones that have more knowledge on this disorder and keep researching. Sorry I cannot help much, if I find anything I will post on here, wishing you all the best.

Suzie

[february]

Dear Tjg18676, I've never heard of that disease, but come to think of it, I had never heard of ataxia either before I was diagnosed (I realize it's not a disease, but a condition as the result of a something). After 23 years of having ataxia, I recently found out I have adult on-set Niemann Pick C1 disease, which ataxia is a symptom of...,who knew?, as I have never heard of NPC either. An NPC gene was discovered during exome genetic testing. The lab technicians were looking for a different type of ataxia (ARSACS) and although my testing was negative for that, an NPC gene was found. Then I had a skin biopsy and a specialized blood test which confirmed NPC1. It was ultimately determined that I had an NPC gene, as well as an unknown NPC varient gene, as it takes double NPC genes to actually realize the disease. As Suzie previously said, doctors do not know much about rare diseases. Knowledge and research is still in it's infancy. My best to you..., ;o)