Gail Sullivan
Forum Replies Created
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I just received this today. So if rare disease day is in February, then I’ve missed it by months. i’m not sure why this came so late. But I am more than willing to share my story so if you could let me know if you still wanted then I’ll write it out.
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I can totally identify with the problem that you had with that neurologist. When I started my journey to find out what was wrong with me I was given five different diagnoses and each the role of just asked what my first symptom was and when I told them it was that I had the inability to stand on my toes I was told over and over but that was not a symptom of any MD. That went on for at least 10 to 15 years. And once I didn’t have the type of desperately they were receiving money to investigate I was dropped by each neurologist and had to start all over again. After about 20 years of going through this I read an article about indigenous group of people being tested for MD and their first symptom was they couldn’t stand on their toes. At that point it was like a lightbulb for me because I also have Inuit and indigenous native in my background. I called that neurologist and she was more than willing to take me on but we live too far apart so she found one near me and I stayed with him until I became bedridden but he believed my first symptom and he took the time to talk to me to examine me to ask all kinds of questions and then do my 20th or 21st biopsy and was able to diagnose me. I am in the medical profession and I can’t believe how people are being treated when they have a problem with MD. Over the years I discovered that it starts sometimes with the GP and it’s because they don’t know anything about muscular dystrophy except for Duchenne. When I finally moved back home and was bedridden again to change doctors and when he came to my house for my first visit he said he didn’t know anything about MDA especially my type but if I was willing to have him learn as I learned then he was glad to have me as a patient. I had him for 20 years until he retired. I’m sorry you had to go through that because I know how it feels but I hope that now you’re on the track to getting a good neurologist to help you.
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My MD has progressed so far that I am bedridden right now. I haven’t been able to walk in at least 10 years. I also cannot set up at the side of the bed nor can I turn on my own so exercises are out for me. One thing my neurologist has had me on is creatinine which does help with the cramping. I purchase it online and take it bid. It doesn’t get rid of all of my pain but it definitely helps so perhaps you could try this and it’ll work for you as well. Good luck with this. Gail
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for me it’s getting me out of the house to somewhere else like the dentist. I have to hire an ambulance taxi. My dentist is 15 miles away from my house and last Thursday it cost me over $800 to go to the dentist and back home. I can’t afford to spend this kind of money to go to the hospital for test or to the dentist. However there’s no other way for me to get to either place and there’s no refunds whatsoever from the government.
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Is there a national registry for Miyoshi Miopathy?
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I thought I had replied to the question about but apparently I did not. I apologize for that. It is not covered by my insurance, even though I live in Canada and I have O’Hare which covers almost everything that Americans have to pay for. But there are some areas that are sadly lacking and this is one of them. It cost. almost my entire disability pension for a month. You have to give them an exact time when they can pick you up and an exact time to when you’re leaving to come home. If you’re out it cost two dollars a minute and as I’m sure most people realize when you go to the dentist. You have no idea how long it’s going to take. I also got charged two dollars a minute because they came 15 minutes.early. Right now people are fighting to get me back the money, so I just have to wait and find out if it works or not.
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I’m sorry you had to go through it for that long Carl. I thought my time is long but you beat me by at least 20 years. It’s totally frustrating when they won’t listen to you and disagree with the diagnosis that’s been done through DNA. I no longer have a neurologist so I’m pretty much on my own with this with help from my GP who admits she doesn’t know a lot about it but as willing to learn. Too bad specialists aren’t willing to learn with their patients.I have kept all of the pages from different neurologist telling me what I do not have after doing a biopsy and telling me that the inability to stand on my toes is not a symptom of MDA. If I was rude I’d send them the article I have saying that that was the first symptom of a whole group of people who ended up having my Miyoshi myopathy. Now there’s going to be a week in September about limb girdle MD under the various different numbers that have been given to it. However I don’t know where I fit into this because they changed the names and numbers so many times since I received my final diagnosis and since my neurologist has retired the only way I can find out is to go through it all over again. So that’s what I’m going to do because I have two children who are carriers and three grand children who could be carriers. Although my children went for genetic counselling I didn’t have a definite diagnosis by the time they had the children so they had no idea what to have their spouses tested for. We need to know if they’re carriers so when and if the time comes that they have a significant other they can be tested and if carriers they can make an informed decision regarding having children. Another part that really bothers me is we all keep getting told in my family that it’s an extremely rare MD and we shouldn’t worry about it being passed on because the chances are so slim. But every time I read an article the number of people diagnosed with MM no matter which number has increased in huge numbers. I hope you can get a Doctor Who will at least do the proper testing for you. You must be very frustrated because you as well seem to be starting over again. Please let me know how it works out for you because I’m very interested in what you find out and how you make out. I’m glad you wrote your experience down because I think it’s a very important one and will help other people who are having problems similar to ours. We might not have an answer for them but at least they don’t feel there alone in all of this.
