Hoopss

Here's a brief summary I posted in August. I thought I'd repost it, maybe it could help someone find some answers. I know what it feels like to get no answers.
I thought I'd post a brief summary of my experiences trying to diagnosis what we THOUGHT!! was a neurological disorder. I'm a 28 year old white male and I've spent the last 3 plus years trying to figureout what my symptoms meant. I've lost about 80% of the feeling in my entire body, cold feet, Disequilibrium
problems(not so much dizzyness), I get hot fairly easy..it's hard to cool down, slight short term memory problem, fatigue,Seborrheic Dermatitis(skin condition on face) and Muscle tightness. Alot of these symptoms can be found with periphial nerve disorders. I've had every test there is including 5 MRI's(spinal cord, brain,etc), CT scans, 2 EMG's, EEG's (heart test), balance test, tons of blood work, etc. My doctors ruled out periphial neuropathy(very general), Charcot Marie Tooth (CMT), MS, Parkinson's, infectious diseases, and tons of other possiblities, I've NEVER had the burning or tingling feeling nor have I had any pain, just constant numbness. Not til I got into John's Hopkin's University hospital was a answer found. Dr. Cornblath who is a neuromuscular specialist at J.H. had done everything he could do except a nerve and
muscle biopsy. I was very hesitant,not because of the possible pain(I had none afterwards) but the fact they could do it and find nothing. You loss permanent feeling in a small area around where the nerve is removed.
He said there would be less than a 10% chance anything would be found and I felt there was less chance than that but I had to take that chance and the risk payed off. I went back about a month ago to hear my biopsy results and I was shocked as was my doctor at what I had. The biopsy showed I have a disease called "Adult Polyglucosan Body Disease" which is a more specific name for Glycogen Storage disease (GSD) type IV (4). Theres 11 different GSD's numbering from 1-11. They all involve the buildup of glycogen on organs
such as the liver,brain, muscle AND nerves. APBD is the specifice name given to patients with neurological problems. Branching enzymes are missing so the Glycogen builds up on the nerve slowing down conduction and over time sufficates the nerve killing it. Not much is known about APBS and I'm still learning as are doctors. It's not a new disease but theres VERY few cases confirmed in the world, I've heard and read theres about 40 to 50 cases known. This is a inherited disease. It's a EXTREMELY!! rare disease. If you ask
your doctor about it use the term Glycogen Storage Disease type IV because APBD is not known about by many doctors because it's so rare. My lab work showed that the Myelin sheeth around my nerves were fine. Typically with most nerve disorders, the myelin sheeth is destroyed over time causing alot of the symptoms I have. I live in Virginia so I'm not in a 3rd world country. I thought this may be of some interest to someone who can't find any answers. Scott
Since this happened not much has changed. My symptoms are the same. About 3 months ago my nerve and muscle biopsy were sent to Dr. Diamuro at Columbia University who specializes in glycogen diseases. I'm waiting to hear from him and where I should go from here. He's also using my nerve and muscle results for a national glycogen disease study he's doing.