Hello, my name is Katie I am 26 years old and a mother of two. I have been suffering from elevated CPK and muscle weekness and fatigue/spaming for 18 mths. I went that long without a diagnosis until today. I got a muscle biopsy Dec. 1, 2008 and my Doctor called me to tell me i have Mcardle Disease. I am scared and confused. I cannot believe this Dr. called me at work and gave me the results and said eat alot of carbs, avoid hard activity, and make an appointment next year to see me again. I kid you not i had an eight minute conversation, and am left with no answers and no one to understand. I researched and do not see anyone who has my symptoms with this disease. If anyone out there is reading this please contact me. My symptoms are as follows:
* My first episode i had a CPK OF 136,000, since that my CPK is elevated at about 3,000-9,000 on a regular basis. I do not exercise and am a size five...I have always been in decent shape. I have muscle twitching everyday, if i carry something heavy i pull a muscle. I swell if i do too much.Ect..... I can go on for days... Please tell me if someone has these issues. I feel like I am alone, and am very sad.
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Mcardles Disease
- By katieleigh
- Posted January 6, 2009 at 8:36 pm · 9 replies
- In Finding a doctor
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- By Noreen6
- Posted January 14, 2009 at 1:03 pm
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For additional information and resources, visit the Association for Glycogen Storage Disease at www.agsdus.org.
HI Katie,
I happenned to read your post and noted your symptoms. It is somewhat similar to a disease my son has, so I looked it up, and hopefully the above link will provide some information for you. I'm sorry that I have no info to contribute to you, but I will keep you in my prayers. I'm sure that someone on this site will contact you, and help you...people here are very kind.
Regards
N
- By Christopher_54
- Posted January 14, 2009 at 9:13 pm
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Katie,
I know what you are going through. I am a 37yr old male and was diagnosed with McArdle's Disease 17yrs ago after a two week stay in the hospital with numbers similar to those. I was glad to know that I wasn’t just lazy after dealing with the symptoms since the age of around 5 or so. I have figured out by trial, error and a lot of pain what I can and cannot do over the years so I want you to know that you still can have an active life. I won’t tell you that it’s still not frustrating when people look at this 6′4″ 275lb man and wonder why he can lift weights or run around and a pain the the you know what dealing with it, but we can do it. I did a 5k run/walk or should I say walk/jog last year, pulled an airplane for United Way (I STRONGLY advise against that one!) and recently joined the YMCA. I have learned to take it easy and let all those around me know that I have this condition that requires me to take it slow. Only my 4yr old daughter doesn’t understand why daddy has to go so slow! My 15yr old son knows about and understands (he still can’t beat me in a game of 1 on 1 basketball.) Anything that requires a burst of speed (ie baseball) or strength, stay away from! I still hike, but I go very very slow if going uphill, taking rest breaks along the way and use a big stick to help me walk. When riding my bike, I try to stay away from hills or I walk the bike to the top otherwise on flat surfaces I just again, GO VERY SLOW. If i get in the pool, I just play around because swimming uses more muscles that I originally realized. For basketball I don’t run a full court game, just half court and I stay away from the young guys who think they are Jordan! The treadmill is where I get most of my exercise. I am not a doctor, don’t play one on tv and didn’t stay in a Holiday Inn Express last night. I just have had a lot of experience dealing with this. Hope it helped. Go to www.mcardlesdisease.org that is a website for other people who has this and you can learn ALOT about the disease. Keep your chin up, it's more of us out there than you think.
- By ShannonR
- Posted January 21, 2009 at 6:58 pm
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Hi Katie,
I am so sorry you have had to deal with a physician such as yours who is so "cold" and not willing to provide you with information. Really, he probably has no idea what he is talking about. It is such a rare disease and alot of the info on the web is either outdated or false. Be very careful about the advice you follow from the web. My recommendation would be to contact Dr. Alfred Slonim from New York. He has researched this disease, written numerous articles and travels all over the world. He has patients from all over the world with this disease also. He treats my daughter and the trip to New York to see him was expensive but very well worth it. We learned so much. We were only supposed to be there for 3 days but because she presented with some different symptoms than other McArdles patients, he kept us 2 more days and did some other tests on her. He usually brings his patients into his office and discusses their case with them, gets a full history and explains the disease, answers questions. You get to see a nutritionist so you can learn what is good and bad for you to eat and they get you on the right path there. Then he puts you through a treadmill test to see what type of exercise you can tolerate and then he sets up an exercise regimen for you to follow on a daily basis. McArdles patients need to be the leanest they can be but not push themselves too hard. He sets you up on regimen and hopefully you increase your exercise tolerance as time goes on. Sucrose loads are bad according to Dr. Slonim which is the info we got initially when Hayley got her diagnosis - we got this information from a pediatric rheumatologist. She was doing a 75 gm Sucrose load before physical activities, she was playing softball and golf at the time and would have to boost during these activities to make it through. She gained about 30 pounds doing this and that was a huge setback for us. Her CPK runs from 2000 to 5000 normally and has been as high as 143,000 - she had kidney failure with that one. Read my profile to learn more about her and her disease and how her symptoms react. But please, if you do one thing, contact Dr. Slonim for help. Please don't think there is nothing you can do or that you are alone. I will be here for you, I don't have it but I will support you all I can. This is a difficult disease to deal with and it is difficult for your loved ones to understand!!!
ShannonR
- By kilar
- Posted January 26, 2009 at 8:23 pm
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Hi. I am the husband of kilar
I have seen so much good and bad in our 24 years together she has been to see Dr. Heller and a variety of others the main thing i can say is find out whet is standard so you do not store glitrigon
so much Moore i can tell you if you have questions the main thing is you are not a lone and our prayers are with you. one question i have is have you been typed their are i believe five types or stages of mcardle's. that's why we seen a genetics's
may GOD bless you. All our Love
- By SherrilynnG
- Posted March 13, 2009 at 2:48 pm
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Hi Katie,
I'm sure I am not the person you are looking for, but I understand your confustion and feeling of helplessness. I have been trying to find out what is going on with my legs for the last three years! I have extreme cramping and twitching in them. Pain so bad I have passed out. I've seen a neurologist and she cant seem to figure it out. She had me take a 24 hour EKG that suggested I have heart arrhtmia of 35. But she gave me no answers. So I have googled and found out about McArdles, I have allot of the symptoms. But I have not had blood work done yet to check the CK. I'm scared too, of the unknown. I hope you are doing well and have found some answers. I send you positive thoughts!
- By JulesC
- Posted March 13, 2009 at 4:34 pm
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Hi Katie,
I'm a 32 year old man from the UK living in the States and though I've had McArdles for as long as I can remember, I really only knew what to call it after I was diagnosed at 16. I wouldn't worry too much about how to deal with the disease going into the future because the chances are, even though you've just been diagnosed, you've been dealing with it for a long time already. Frequent rests while walking, very limited exercise, bowing out of conversations about people's various gym regimens - it's all par for the course with McArdles. Truth is, though its without a doubt a hindrance, it really only affects your life as much as you let it. Just know your limitations and you can live a pretty normal day to day life (save the the irritation of having to explain to the layperson why you may need to stop occasionally on uphill walks). In any case, though I know of no really effective medical treatment (I've found all that anecdotal evidence of eating jam sandwiches before exercise and stuff to be a total crock) unless you over- exert yourself, you'll be fine.
If you want to know anything more, please don't hesitate to contact me, and take care of yourself.
p.s. I now live in Los Angeles and am wondering if anyone knows of any West Coast affiliates Dr. Slonim might have. I just think it would be valuable to deal with a doctor who isn't always guessing. Thanks.
- By voraciousreader
- Posted April 30, 2009 at 3:52 pm
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I agree with the poster who wrote about Dr. Alfred Slonim. He is EXCELLENT. There are very few physicians who have the experience in treating rare metabolic muscle diseases and, finding one who is excellent and compassionate is even harder to find. Do whatever it takes to see him. Your health will improve dramatically under his care if you follow his instructions.
Good luck. My prayers are with you.
- By sksmo
- Posted May 21, 2009 at 12:27 am
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Katie,
I am glad I found this website because up till now no one I know has ever heard of McArdles so i do understand the being alone part.
I am a 42 yr old female and was diganosed with McArdles when I was 27 years old. The doctors discovered I had McArdles when I was having surgery for a different reason. They told me that a person is born with McArdles but it is not normally discovered until the 20's. I had read online that in 1985 there was only 50 people world wide diganosed with McArdles.
The doctors told me to not over exert myself and don't get stressed out (yeah right). I did the yearly visits for a while and learned very quickly I knew more than the doctors did. The best part for me was that it answered so many questions I had. Like why did my legs feel like they weighed 100 pounds a piece at times, and why did my hips hurt sometimes when I walked.
The best advise I would have is to know your body and your limitations. I have always been very active my cpk runs around 5000-8000 the highest recorded is 159,000. I can do the major things for example I am a construction worker, I ride bikes, a few years ago I was able to lift over 700 pounds with my legs at the gym. However, it is the little things that gets me like if one of my kids poke me in the arm with their finger, (almost instant muscle spell) or if I am asleep and I am startled and jump up quickly. The doctors told me to quit working out and only walk for exercise. When I did I felt much worse and the extra weight gain didn't help much either. So now I am back to working out lightly I also do some light yoga which helps with the muscle tightness. And if I feel that I have ever overdone myself (which I have a couple of times) I start drinking a lot of fluids to flush out my kidneys. If your urine ever turns brown that is means your muscles are leaking protein into your kidneys and you need to flush them out. I have not done that in a couple of years. When coming to an agreement with the doctor on me being active he pretty much told me when I am doing something if I feel my muscles burning then I am causing muscle damage and I am doing to much. So again you need to know your body and your limitations. You can lead a very active and productive life just watch what your're doing. And becareful if you have other illnesses, because the doctors and hospitals will try to blame it on McArdles.
- By Lilygirl70
- Posted November 17, 2009 at 10:38 pm
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I just read your post. I have suffered with McArdles all my life, but just recently found out their is a name for it. I always thought I was just the kid who could never get in shape or have good stamina. I was a thin child, so it wasnt that I was lazy.
I actually went to my doctor with a swollen lymph node in my neck and he did some blood work. My CK levels came back at around 870. Two weeks later I went back and they were at almost 10,000. I have no idea to this day what I did different ! (the swollen gland turned out to not be related )
So I ended up spending the night in the hospital so they could flush my kidneys. Now, I spend my spare time researching this disease.
From the symptoms you explain, it sounds very common to alot of McArdles patients. There is a Facebook page of people who have this also. I have enjoyed meeting other people who have had the same challenges in life because of this rare disease. But the good thing is we cant die from it, probably wont end up in wheelchairs, or not be able to feed ourselve. Worst thing is no marathons or triathalons. Just remember if you start to feel bad drink lots of water to flush your system out.
If you have any questions, please contact me. Your not alone !! =) Take care, Shanan
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