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.

Hello Hoops, Diabetes is one of the glycogen storage disease types. Last month I downloaded a clinical study on it, but I haven't studied it yet. I know it didn't give the symptoms, which makes the report incomplete. Your post is very informative. I thank you and pray that God will bless and heal you. Have a merry Christmas,
Oldguy

My husband has a lot of your symptoms but was wondering if they ever found any lesions on your spine. My husband is in a lot of pain, swelling of feet and arms, fatigue, skin condition on face, but his Doctor at Mayo Clinic has diagnoised him with myeloradicular neuropathy with complications of spinal myoclonus. He has inflamation of the spinal cord and brain stem. But all of this is from unknown causes. Just wondering how you are doing and what medication you are taking.

Sorry to hear about your husband. I had a 3 hour MRI of my spine and everything looked fine. Lucky I don't have any pain or swelling and never did. Mainly I'bve lost about 90% of the feeling in my entire body along with more minor symptoms. If you saw me you wouldn't be able to tell anything was wrong. I don't take any medication and never did. There is no medication to help with GSD IV. I try to avoid any medications because they can do more harm than good with nerve problems. I exercise and try to eat well which helps alot. I actually feel better today than I did a couple of years ago but my condition has not improved, it's actually gotten slightly worse over the last couple of years. I know the Mayo clinic facilities are great but if you run out of leads/ideas Johns Hopkins is one of the best places in the world, it's 5 star all around. I know you live a good ways from Baltimore but it's defintely worth the visit to find answers. Take care and good luck.
Scott

Originally posted by RichGreg4:
My husband has a lot of your symptoms but was wondering if they ever found any lesions on your spine. My husband is in a lot of pain, swelling of feet and arms, fatigue, skin condition on face, but his Doctor at Mayo Clinic has diagnoised him with myeloradicular neuropathy with complications of spinal myoclonus. He has inflamation of the spinal cord and brain stem. But all of this is from unknown causes. Just wondering how you are doing and what medication you are taking.

Thanks for replying. My husband would like to know the Doctors name or the websiste of John Hopkins. Any information would be helpful. We have a son that lives in Boston.

A couple of days ago my computer with a couple of years worth of Medical links crashed. I still don't know how bad it is yet but I have a good many links to JH pages. Hopefully if I can get my computer fixed and if the links aren't lost I'll forward them to you. I foundout that theres ALOT of links to JH related sites and it was difficult to find what I wanted. Theres MANY buildings related to JH. Theres JH University, JH hospital, The Bayview center which is on the water in downtown Baltimore and the JH Outpatient center which is in the middle of downtown Baltimore which is where I go. There could be more JH buildings I don't know about but I believe these are the main ones. There all in downtown Baltimore. My main doctor is David Cornblath who is a neuromuscular specialist. He has his own office separte from JH in Baltimore but I never go there. He splits his time with patients (at his office and JH)and doing surgery. It usually takes a solid 2 months to see someone from the time the appointments made. You can get on a waiting list to try and get in earlier, it depend who your trying to see. Calling once a week can rarely get you in earlier too. I have Blue Cross Blue Shield insurance which has been unbelieveable helping me out. They've never turned me down for anything I needed. I got into JH with a referal from my family doctor. I think the 2 key points to getting in there is your insurance and I believe you have to have a referal(this could be wrong). I've never spent anytime over night at any of the JH buildings. I didn't need to, I just made all my appointments within a couple of days to save on staying in a hotel. I believe some hotels give discounts to JH patients. You have to pay to park anywhere downtown. A couple of hotels have there own garages but some places you have to use city garages. I've stayed in downtown and east of Baltimore at a Holiday Inn where the parking was free and it was much cheaper but it was only a 15 minute drive to JH. All the hotels (from what I remember)are 4 and 5 star hotels. Things add up quick staying in the city with room, food and parking. I've never flown there, I always drive. I've never had a problem there and everyones really nice and treats you well. That's all I can think of for now. If you have any questions I'll try my best to help.
Originally posted by RichGreg4:
Thanks for replying. My husband would like to know the Doctors name or the websiste of John Hopkins. Any information would be helpful. We have a son that lives in Boston.

Thanks for replying. The information was very helpful. We called John Hopkins and talked to someone and they told us to send reports and doctors notes. They would review them and call us back as to where they could help us or not or refer us somewhere closer. I am in the process of getting that ready to go. I'm not sure about our insurance. That may be a factor even though my husband said if they wanted him to go, he would. I am going to have to send my pc off to get repaired so you wont hear from me for a couple of weeks, but I will write again and inform you of the lastest developement.

Hi, I'm back. UPS lost my computer. Can you believe that???? My husband condition is not any better. Never did hear from John Hopkins. They must have lost my letter!!!!
How have you been? What are you taking now?
My husband goes back Wednesday and they will decide if he takes anymore Kemo!!! Please answer!

RICHGREG4,
Sorry it took me so long to respond to you. I had been checking once in a while to see If you had made it back on here but in the last month I've been to busy starting a new job,moving and buying a car so I hadn't been on here much. Currently I don't have internet access except on weekends sometimes when I'm visiting my parents. I'll try to check this message board til I leave Sunday morning if there's anything you would like me to respond to.
I'm sorry to hear your husband hasn't improved. Sounds like more headaches were added on with the Johns Hopkins and computer mishaps. I'm surprised about Johns Hopkins not responding to you. There very good about staying in touch with people.
As far as me and Johns Hopkins goes. I haven't been in a long while and have no plans to go anytime soon. If my condition takes a turn for the worst I may go but other wise I have no reason to visit. I'm currently on no medications and haven't been for years. I've been on a new job for 3 weeks now and things are going better than I expected. I had ALOT of fears about moving and starting a full time job after being severly sick for 3 plus years but I had to try and live my life the best I can and so far I'm doing well. The lack of energy was one of my biggest fears but I constantly snack all day which is a huge factor in how my day goes, no food and my energy level drops severally.
Let me know if theres something I can do, I'll try to help if I can. I don't have any Johns Hopkins info with me to give you. I was lucky to get on here to reply because I has a hardtime remembering my password. Take care,
Scott

Well, we went back and the doctors are keeping my husband of kemo!! Just giving him one every other month!!! They said his lesions were not worse, maybe a little better so they want to keep him on them. Also on the predisone. 40 mg a day!!!
All this medicine is not good for him but he continues to take to try to get better. Hope everything is good for you. Write when you can.