Living with McArdle’s Disease

Life with McArdle’s Disease

Life with McArdle’s disease has some inherent challenges. The condition has historically been misdiagnosed as poor conditioning or psychosis, compounding the physical issues of the disease. Children with McArdle’s disease participating in gym class or athletics may find themselves attempting activities their bodies simply weren’t equipped to undertake.

Most people with McArdle’s disease develop a variety of coping mechanisms growing up, through adolescence into adulthood, that allow them to avoid much of the physical and emotional discomfort associated with McArdle’s disease. Some avoid activities they know will give them trouble, and find alternative ways to be active within the scope of what they know their bodies can handle. It is important that individuals with McArdle’s realize their limitations for their own safety, while still endeavoring to remain active and healthy.

People with McArdle’s disease may experience failure episodes and muscle injury without any warning, even when using caution in strenuous activities. Sometimes these episodes require a trip to the hospital. It can be as simple as intravenous saline and a urinalysis, or it could be weeks of hospitalization. The frequency of these injury episodes is controlled by a number of different factors; occupation, diet, cardiovascular conditioning, and more. The more aware of one’s own limits an individual with McArdle’s disease is, the less likely they are to experience injury.

A “second wind” phenomenon has been clinically observed in which people with McArdle’s disease are able to maintain moderate physical activity such as jogging or walking after a warm-up period, assuming they do not experience hypoglycemia. This warm-up may also reduce the risk of injury to the affected muscle groups through increased circulation, heart rate, and hormonal factors.

People with McArdle’s disease who are middle-aged or older may be at increased risk for injury, but it is not clear whether this is simply the natural result of decreased activity and aging, or if it is indeed specific to McArdle’s disease. There are mixed reports about the progression of McArdle’s disease symptoms through adulthood, and the medical community would benefit from more clinical studies on the effects of McArdle’s disease throughout the life span.

One thing that is certain is that individuals with McArdle’s disease for the most part seem very able to live active and healthy lives, and continue participate in all kinds of physical activities.

13 thoughts on “Living with McArdle’s Disease

  1. Brooke

    Hello, I have experienced many of the issues described here as well. From the nicknames in grade school, frustration with my stamina to even making up a bad knee story just to offer an acceptable explanation to those who didn’t understand. I’m a pharmacist and figured out the diagnosis myself this year at age 38. I went to my primary care provider and asked for a CK. She thought I was insane to the point where I really started to think I was also. I had been to countless doctors, urologist, nephrologist and urgent care centers to be told every time “you must have kidney stones.” I just stoped talking about it to doctors through most of my 30s because I was so tiard of not finding answers. I feel very lucky to have the fortune to have been able to use my education to solve this mistory. I hope we can get the word out so others don’t have to wait so long for the answers.

    Reply
    1. Site Administrator Post author

      Hello Brooke, have you been formally diagnosed by ischemic forearm test, biopsy or genetic test? If not, you might consider following up with your doctor to rule out something else. Many conditions can affect stamina and cause high CK levels.

      If you haven’t already done so please check out the Facebook Group. They are an active, knowledgeable group of people who are generous with their time and ready to help.

      …so others don’t have to wait so long for the answers.

      Indeed this is a worthwhile goal. I know only too well the discomfort of faking injury to gain a few moment’s rest while climbing stairs with someone.

      Reply
  2. pat green

    hi i am pat i have had mc ardles for the last 60 years years . i ended twice in hospital in my teens, collapsiong with terrable pain all over, second time i blocked one kidney, had opperation to fix it. urine was black before the opp due to pigments from mussles blocking the kidneys, was told about the croazon beeing out of wack and about it beeing heridetery . my grandmother , my self, my sister,and my son.hopefully it will stop as long as both parents are not carers of this pain the butt thing stops. my advice to any one who has it is to take it easy phisicaly and dont get too stressed, i am in my late 70s and the adventure of life still goes on. i find what helps if you feel an attack coming on, slow down, have a cup of coffee or tea with lots and lots of sugar in the cup as well. and rest. if you are like me being hyper active it helps. experement to what helps you.sorry about the spelling . all the best pat.

    Reply
  3. nana-2-9

    Hi. I was diagnosed in 2006 at the age of 48. I am now 59 years old. I am finding that I sweat really badly and have a very poor tolerance to heat. Does anyone else have this problem?

    Reply
  4. Bertien van Oppen

    Hello Everybody,

    I 've Mcardles sinds my childhood. I can't remember the time that I didn't have muscle cramps. I was 19 years old when I got diagnosed. Now I am 41 years old and a lot of disappointments further caused by a running out of information by the most doctors. I had to go international by websites, to becom what I was looking for. But even there you find a lot of confiusing stories. I thougt maybe its a good idea to put up some poll for Mcardle diagnosed people. In that way we become a much better view, what problems Mcardle patients suffer from and what doctors advised. My doctors often don't know what to do, and when I sugestion something, they don't take me seriously. I want fact's, fact's that we can show every doctor over the world, when they are running out of information. If there is enough respons, I would like to make such a poll in the form of questions and enough space for people with their own expierience.
    With regards Bertien van Oppen from the Netherlands

    Reply
  5. sgrenze

    Maybe I'm different, but I don't have the optimism I see here. Every morning is a twenty minute (warm up) stretch just to get out of bed. Take a shower and drying off wears me out! After dressing and drinking high sugar drinks as well as the vitamins I struggle with enough strength and energy to drive 20 minutes to work. At this point I am exhausted and can't find any position that doesn't involve intense pain and cramping. My legs give out from exhaustion at least three times a day and I often can't react fast enough from the fatigue to catch myself. By the end of the day my hands, knees and ankles are swollen and stiff and I need to help support my head because my neck and shoulders are just too weak. The only relief from the pain seems to be 3 vikes a couple beers and an ambien just to do it again. I haven't been able to go to a store for 3 months because I can't make the 100 foot walk to the door to use the power chair. Even using that wears out my arms and shoulders. What's next?

    Reply
  6. Scott Grenzebach

    I'm having a problem with the "all kinds of physical activities". After a 20 minute stretching I can walk a hundred yards only to have my muscles cramp and give out to complete exhaustion. After about 3 hours my head feels like it weighs 150 pounds and I need help supporting it through the burning muscles of my neck and shoulders. Life is miserable and nothing has helped so far.

    Reply
  7. Jim Ottesen

    @Site Admin
    Terri,
    Not too much has changed. I was just diagnosed two years ago and
    experience the same problems you mentioned with the exception of hospitalization. I try to keep muscle strain to a minimum, use
    hemasticks if concerned, drink lots of water, take 100mg of B-6 and
    a good multiple vitamin on a daily basis. In addition, I find that
    a modest exercise program (no weights), whey protein, L-Carnitine (500
    mg) before exercise and a good diet rich in vegetables, fish and
    fruits keeps my complaints to a minimum. I can’t seem to beat the fatigue symptom, but, if necessary, I’ll take an hour nap and seem to
    snap back to stay on top of things. Perhaps some of these ideas will
    be of help to you. Let me know if you have any questions. Best wishes,
    Jim Ottesen

    Reply
  8. Site Admin Post author

    Joaquin Obregón :

    Nice update.

    ¿All kind of physical activities?

    Last paragraph is too optimistic but I am sure that all of us (Mc Ardle’s affected) will strive to make it real.

    Regards

    Perhaps lost in the translation, “all” meaning “many.” There is no such thing as too optimistic.

    Reply
  9. Teri Gilmore

    I was diagnosed with McArdles 10 years ago. I am now 49. Everything makes so much sense now re: childhood muscle pain,poor stamina,etc. Mine was discovered when I was having a lot of muscle pain,and had a ck level of 20,081. I have been in the hospital several times rhabdmylodosis,muscle pain, and fatigue, Standard treatment was I.V.’s and pain meds.My ck levels very rarely go below 4,000. Any new info would be appreciated! Thank-you,Teri Gilmore

    Reply
  10. Jim Ottesen

    @Joaquin Obregón
    Joaquin,

    As a 72 year old “M” individual, I can say “yes” to your question,
    within the limits of your disease. However, remember we all have
    different limits of capabilities and we must pace ourselves to our
    situation. And, always remember, there is that “second wind”
    experience many live with that suggests opportunity is what you make
    it. Strive on. Best wishes, Jim Ottesen

    Reply
  11. Joaquin Obregón

    Nice update.

    ¿All kind of physical activities?

    Last paragraph is too optimistic but I am sure that all of us (Mc Ardle’s affected) will strive to make it real.

    Regards

    Reply

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