Glycogen Storage Disease V, McArdles Disease

I am having a hard time finding someone to corresponde with who has McArdles Disease. If there is anyone out there, please contact me.

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My husband has spent the past 5 years trying to find a diagnosis for his disease. (He is 70 and I am almost 65.) Just recently he received a request from Oregon Health Science University to be tested through a previous muscle biopsy for McArdle - Glycogyn Storage Disease! Please write back and let me know your symptoms, experiences, etc. !

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I am a life long sufferer of McArdles. My parents took me to many doctors when I was child to find out why I couldn't keep up with the other kids. The doctors told them I was lazy or enemic. As an adult, it got to the point where I couldn't walk up two flights of stairs without my legs feeling like they were buried in concrete. A little incline felt like I was climbing a mountain. In the shower I could only rinse my hair once because I didn't have the strength to lift my arms any more. I had a muscle biopsy in 2003. It confirmed that I have McArdles. I have been to many Muscular Dystrophy clinics, and Neuologists. In December 2007, I went to an MD clinic and the doctor just looked at me and told me to take caffeine pills!!!! That didn't even sound healthy to me. I was walking with a cane at the time. He told me that I would be in a wheelchair soon. I thought for sure the medical community had more than that to offer as a treatment. I was determined to find someone who knew about this disease. I got online and through the Glycogen Storage Disease web site, I found a clinic in the United Kingdom for people with McArdles. I was accepted to attend the clinic this summer. My contact person, told me that the brilliant doctor who started their clinic is based in New York. I chose to go to New York rather than abroad. I saw the doctor in February. I am now walking on a treadmill 60 minutes a day! He told me more than I had heard or read about the disease. I knew that McArdles patients didn't make a certain enzyme. What I didn't know was that the enmzyme kicked in when a body starts moving their muscles. Since we don't have the enzyme, we get tired instead of rejuvinated!
SO, th edoctor put me on 12 oz of protein plus two protein supplements to replace the enzyme. I haven't felt this good in years! I don't know that I have ever felt this good. I never felt better in my life than when I was pregnant. I have three daughters. The doctor said that when a women with McArdles is pregnant, the baby gives back to her the enzyme that she is missing, and that is why she feels good. Isn't that interesting? I am scheduled to go back to New York in August. I'm hoping that I will be able to go. It is an expense. My husband had quadruple by pass surgery last year, and has just gone back to work.
I hope to hear from you again. I would like to hear your story.

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How encouraging, Julie C! I intend to take the info you've provided when we go to my husband's specialist at OHSU on July 1 and see what he says. We have not given the ok to do the testing on Buzz's muscle biopsy, but guess we should do that to make sure of the diagnosis! Nothing has helped so far and I can see the days of a wheelchair coming in a year or so unless we have a miracle. Thanks for giving us some hope!

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I created this site, http://www.mcardlesdisease.org, in order to try and increase awareness of the disease and also share information amongst those of with McArdle's Disease, that we can better manage the disease. Please visit the site and contribute as you feel comfortable!

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My partner has recently been diagnosed with this and is currently in hospital as we speak undergoing treatment. Would be nice to hear from anyone who has the same problem.

many thanks

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Hi Judy and friends...I am new to this website. I was diagnosed almost 20 years ago with Late Onset Acid Maltase Disease, also known as AMD. I am told that there are 3 types depending on the age of diagnosis. Pompe, Mcardles and Late Onset AMD. I was so fortunate to find Dr. Alfred Slonim in NY. Is he by any chance the Dr. in NY you visit?

I am interested in finding patients to talk to about this condition and it's challanges. My name is Debbie and I live in Massachusetts.

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Hi my name is Tammy and I was diagnosed with McArdles disease March of 2008. I have had symptoms of this disease since I was 14. I use to be a competative runner and then at 14 I started to get extreme fatigue and muscle injuries. They told me at the time I had juvenile arthritis. I stopped running and delt with the pain and fatigue going to the doctors periodically hoping they would tell me something new. Almost every doctor thought it was in my head and prescribed me anti depressants. Frustrating. Finally when I was 25 I got pregnant and never felt better. I had 4 children and during those years I thought I was cured. Two years after my 4th child everything came back. I went to the doctor in tears and he told me he believed me and would not stop investigating until he found out what was wrong with me, It was a huge relief to find out what I had and that I was not crazy. It was also a relief to know that my children should not get it. Since I found out I have changed my life as far as eating and exercise. I run 4-5 times a week not too much and just enough to keep my fatigue down. I cut out most complex carbs (very hard to do). I have felt much better. But I have a couple of questions. One, JudyC how do I get the protein supplements and two does anybody else get 100 times worst during the summer?
Thanks so much!

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Yes, Dr. Slonim is the doctor I saw in New York. Unfortunately, I was not able to travel back to NY for my 6 month follow-up visit. I am concentrating on my diabetes right now. I have a new insulin pump, and I am doing much better now.

I tend to get worse in the cold weather, not the summer.

I order the protein supplements. If you want details, I will be glad to give them to you.

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I have three daughters. I never felt better in my life than when I was pregnant. Dr. Slonim, in NY, told me that he has not met a woman with McArdles who didn't feel her best while pregnant. He said that the baby gives the mother the enzyme she is missing while she is pregnant. I thanked my daughters after I found out!

I order one protein supplement, Bene Protein, from Walgreens on-line. The other is an Rx Dr. Slonim gave me for L-Alanine. I know that you can get Alanine at GNC stores. I tried it, but it made me very nauseated.

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What type of Alanine can you get at GNC stores? The type Dr. Slonim gave my daughter was prescription only and we have to order it from a pharmacy in New York. It is a fine powder and we mix it in water. She takes it four times daily. It's about $165.00 for a 4-6 months supply, depending on how many flares she has and how much we have to increase her dose here and there.

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The Alanine from the pharmacy in New York is my preference. I will have to look at the bootle from GNC and let you know.

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Hi Judy,

I am a 57 year old woman and have just joined . I am not yet familiar with this site, but I just wanted to drop you a note to let you know I have McArdles Disease.
I was diagnosed in 1977. If I can help, let me know.

Kings_Kid

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Hi everyone. I am new to this site. I just got diagnosed this year with mcardles. Would anybody like to share with me what they did to get their energy level up to exersise and build strength back up. Walking is a chore for me, looking at stairs is like looking at a rock climbing wall. What do you guys do to build back up muscle and energy? Does anybody else have problems with neurological damage and mcardles? I'm just wondering if it is normal or if I have other problems on top of the mcardles. All info is helpful.

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bless you all i dont have mcardles but i have a conditon that causes very similar symptoms.. I have andersen tawil syndrome a condition that has a protein defect with the protein that functions as a messenger in the potassium channels.. potassium supplements and a medication to limit wasting of potassium is probably going to be my treatment..In my condition since it is genetic is also accompanied with distinctive facial features such as curvy toes small lower jaw thin lips wide set eyes etc..in a way my facial characteristics aided significantly in figuring out my condition,, I will be undergoing genetic testing to see if my familial case is because of a known genetic defect.. some cases still are genetically not identified..

karen

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Hi Barbara 33 My name is Kenneth Watkins, I live with my brother and we both have McArdles. Diagnosed at the age of 14. I really dont know where to start, I could tell you everything that i know it, but it would take a while. There are many ways to live a better life through info. If you would like you can call me at 727-547-8809 If I don't anwser, just leave me with your number and I will call you back. I am now 46 and have lots of info on what you can do to improve your life, there is hope !!! Look forward to speaking with you. Peace out, Much Love. Kenny

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Hi. I was just diagnosed with McArdle's this Novem 09, at the age of 54. After yrs os complaining of cramping,fatigue,legs that felt like concrete after walking,weakness in limbs and hips. I used to describe myself as the Energizer Bunny who suddenly loses power. It wasn't until a second muscle biopsy and emg that showed significant muscle damage and muscle atrophying I was finally being taken seriously.
Coping with the disease I have learned to slow down-I have no choice- I take frequent breaks, Warm water aerobics helps. Keeping active also helps

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Greetings and Happy New Year. I'm living with a glycogen storage disorder somewhere between McArdle's and Tauri's Disease. So far I've stumped the medical community. There are three things I've learned that I wanted to pass on in case it might be beneficial to others.

1. Using a treadmill or similar exercise with a heart monitor and building up my stamina has helped decrease overall muscle fatigue. The docs recommended I do 20 to 30 minutes per day and not exceed 100 beats per minutes (your mileage may vary - get a recommendation from your doc). Exceeding that heart rate may lead to muscle damage.

2. Biotin has eliminated muscle cramps at night. OSHU recommended a ton of various supplements as a 'shotgun' approach to see if anything helped my condition. Nothing did. However night time muscle cramps went away during this period and I finally narrowed it down to the biotin.

3. I try and stick with high protein meals. If I eat a high carb meal, the muscle fatigue gets much worse for 2 to 4 hours. Eating a large helping of noodles at a Chinese cafe when the car is parked on a hill above is a problem (-:

Background: I was diagnosed with diabetes about 10 years ago based on high blood glucose levels. I got that under control with diet and meds although the typical meds seemed to stop working after awhile and I now use Insulin (Lantus for background and Novolog at each meal). HbA1c is below 7.0.

About 8 years ago I began experiencing muscle pain upon exertion. I remember walking up a hill in Japan and had to stop due to a lactic acid burning in a quad. Over time the muscle fatigue as become more general and even my jaw muscles began getting tired eating a tough steak. So...many docs later and 2 years at Oregon Health Sciences University, biopsies, treadmill tests and gallons of blood has led to nothing. "You may have McArdle's." "You don't have McArdle's." "You've got something like McArdle's."

I'm willing to try new ideas and supplements but the best I can do at the moment is to slow down a bit, think about how I can take a hike or hill climb and have rest stops, eat a high protein diet, exercise each day at a moderate rate, take biotin and use Insulin to keep blood sugar under control. All in all, it is not impacting me that much and life is good!

I retired in April of '08 and work on our cabin in Idaho and my shop here in The Dalles, Oregon.

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It sounds like you have McArdles to me! I don'tunderstand why a biopsy wouldn't confirm a diagnoses. The word biopsy was plural in your message. I am assuming you had more than one biopsy. I have been concentrating on my diabetes more than McArdles lately. My A1C is finally under 7. Hopefully, I can get back on track with my high protein diet and exercise.

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Boy do your symptoms of McArdles sound like me!
I have diabetes as well and the cramping in my hands prevents me from doing allot now. the cramping in the legs and generalized muscle pain is also symptomatic. I'm going to ask to be tested for this as well as other glycogen diseases. this would make allot of sense to me as a cause rather than just Fibromyalgia which I've been diagnosed with which doesn't explain the problem with my hands and forearms etc.
do any of you get seizure like body jerking going on?
hands that 'fly off' while reaching for a glass of water etc? body jerking when going to sleep? my entire torso will go into spasm some times while typing for example.

Wish you all the very best,
Mike

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