Discussions By Condition: Medical Errors

McArdle's Disease Myophosphorylase glycogen storage disease

Posted In: Medical Errors 2 Replies
  • Posted By: Anonymous
  • January 15, 2007
  • 08:06 AM

My husband has just been recently diagnosed with glycogen storage disease also known as McArdle's Disease and Myophosphorylase. He has had the condition since his booster shot when he was 5 in 1984. He couldn't walk for 2 weeks after this booster shot and showed no signs before the shot of muscle fatigue or pain. I am starting to believe that this booster shot mutated his genes with the way he's been treated. Missing files and such. Telling him it's all in his head! We are actually getting a lawyer to sue because of the phychological damage done by the Neurology department (where I guess I can't say, but it's a big one). They haven't even tested him for the specific type of McArdle's disease. He has muscal weakness and pain all day to the point now that he could hardly bare it. That's why we went back. Even though they couldn't properly diagnose him from 1984 to 1998. I guess whenever they figured it out they were just to lazy to call him and help him deal with the disease. When we did go back in 2006 the head of Neurology basically called him a liar and said he had no pain after asking for help with it. They didn't give him anymore information about the disease and passed him off to a nutritionalist that didn't know anything about his condition. She was very nice and called many places to try to get more info to help. I believe that I now know more about this disease then the neurologists at this international teaching hospital right here in the USA. He had to hear about symptoms that this disease causes, like kidney failer, from a website! NOT HIS DOCTOR! After being told one year and given notes for school that he had a disability and the next he's told that nothing was wrong with him and it was all in his head. Oh he looked fine they would say. It's strange because they did all the tests you would do for someone with GSD. Why was it misdiagnosed? His muscal biopsy came back positive. He has a CPK level of over 1000. Which they said they wouldn't need to test again because it didn't matter. They did genetic tests on his family and him. They said he didn't need anouther angiograph even though as a child he had a hole in his heart and one type of McArdles disease effects the heart. They couldn't find his records! They haven't even bothered to put him in there computer database even though he has this rare disease you would think a researching hospital would actually want to research! Of course then again remember they haven't even tested for the type and if they have they didn't tell us. Anouther chilling part of this is that there is a glycogen storage disease assosiation. There are only two sites listed for them. One in the UK and the other in Durant, IA which is only a 25 min drive from our house. It's barely long distance to call!!! Yet, not even the HEAD of neurology or the other neurologist in the room did not even mention them. I found them by simply typing in myophosphorylase into a search engine and actually doing some work, which I guess the neurologists at this hospital do not do. The disease was first diagnosed in 1951, so why did they only give him this diagnosis in 2006!!! If you go to http://members.aol.com/itsgumby/me.html

there are a bunch of people with this disease and doctors willing to help. These people were all diagnosed during the agonising years this neurology department phychologically abused my husband. We have all the documention from his expereance there. His mom forced them to give her a copy of everything and she still has all of it. Please, I would like to hear opinions on if we have reasonable case to sue. We want to insure this doesn't happen to anyone else. It's the hardest thing to hear when your in chronic pain that it's just all in your head. Even after passing psychological tests. I think this is malpractice.

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2 Replies:

  • my name is rich and my brother has McArdle Disease and i do not really understand it he is in the hospital right now as i am typing this little letter he has been in for a few weeks wich usually happens about once every two months i am not saying he is not in pain but i dont know he is in the hospital and they treat him with just pain meds a lot of pain meds where he is just loopy that u cant evev talk to him this has been going on for a long time i think he is definetly addicted to the meds but how much pain can he be in some of the things he does does not make sense some things make it worse and then some things he does does not and he is ok someone please help me understand turtle2921@aol.com
    Anonymous 42,789 Replies Flag this Response
  • I have just stumbled across your post from back in 2007. I hope things have improved for your husband. There were a lot of misunderstandings in your post, but I expect you have clarified those by now. I am the McArdle's coordinator for AGSD UK, which you mention in your post, and I have McArdle's myself. There is a lot more information on McArdle's on our website now: www.agsd.org.uk. If you need any more help please contact me via email at type5@agsd.org.uk. Andrew Wakelin.
    Anonymous 42,789 Replies
    • September 12, 2010
    • 11:44 AM
    • 0
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