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Re: If you can't find a neurological diagnosis, my story could open your eyes!

Re: If you can't find a neurological diagnosis, my story could open your eyes!

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Posted by Scott A. on October 29, 2000 at 20:56:29:

In Reply to: Re: If you can't find a neurological diagnosis, my story could open your eyes! posted by Becky K. on October 06, 2000 at 06:04:01:

: : Becky K. PLEASE!! get in touch with me if you see this messagel. I quit reading the message board after a while since I hadn't heard from anyone. I'd love to hear from you. You can write me at [email protected]
: : 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 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'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 Stroage 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

: Hi Scott!

: I have never replied to a message board message before. I hope you receive this message!

: My story is similar to yours. After five years of searching for a diagnosis, I had a nerve and muscle biopsy on 8/2/00. This was a last ditch effort on my doctor's part. I received a diagnosis of Polyglucosan Body Disease on 8/23/00.

: I joined the National Organization for Rare Disorders (NORD) and through their Networking Program, was given the names of three other people in the U.S. I emailed them and received a reply from one lady.

: I am almost 47 and live in a suburb of Dallas. I would like to contact you at your email address, if possilbe! How do we go about doing that? Is it okay to post our email addresses on this message board?

: I hope to hear from you VERY soon. There are so few o us, I feel it's important to correspond and support each other!

: Becky

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