Stacey Doesn’t Let McArdle Derail Her Determination

I was 38 when I was diagnosed with McArdle disease. It came after recovering from an accident while out for a run, which sidelined me for about a year. As I was beginning to feel better, I decided to go to my cousins for a swim. I hadn’t realized how deconditioned I’d become. Within just a few minutes of swimming, all of my muscles began to cramp up – I barely made it to the edge of the pool. That night I recall feeling very unwell and my urine was the color of coke. The next morning, I went to the hospital. While at the hospital, my kidney specialist became concerned about my kidney function. He listened to me as I related the symptoms I’d been dealing with for years, and he was the first to suggest a diagnosis of McArdle disease. That led to genetic testing and a referral to a muscle specialist in Toronto.

 

Looking back, for as long as I can remember, I was symptomatic; I couldn’t keep pace with others due to activity-induced muscle fatigue and pain. I thought I just wasn’t trying hard enough, so I’d find excuses to rest when I was younger, by saying, ‘I need to tie my shoelaces.’ When I was 7, I was told by doctors that my hips were over-rotated and that I just needed to strengthen the muscles in my legs so I was sent to physiotherapy to lift weights three days a week. Of course, this was many years ago – pre-smartphone and Internet – so there weren’t many answers at the time for my parents.

In my 20s, I once again attempted to figure out what was wrong. I always noticed my heart rate was very fast at the beginning of a walk, so I requested a referral to cardiology. The cardiologist gave me a 24-hour heart monitor. The next morning, I walked up the stairs from the subway and just one block to campus. This minimal amount of activity led to my heart rate jumping to 210, and my legs feeling like lead weights. My doctor said that my heart was fine, but diagnosed idiopathic tachycardia and suggested I take beta-blockers to slow down my heart rate. I declined, and my doctor said, ‘Well, I guess you’re just out of shape; you’re just not fit.’ But it didn’t make sense to me. I was always very active. I would walk to school every day; I’d walk the dog, and I loved sports.

With McArdles, the more aerobically fit and conditioned our bodies are, the better we do. If we’re deconditioned aerobically, it makes it so much worse. 

 

But it’s hard to convey that message to people, that the one thing that can harm you is also the one thing that can help you.

There’s probably a lot of people with McArdles who think, “well, I’m just not athletic.” They don’t want to push themselves because they can’t do a lot. Many people lack confidence in their ability and turn to solitary activities because they can’t keep up and be part of a group of peers. And, some suffer from anxiety and depression.

 

Day-to-day activities like bringing in groceries, brushing hair, making the bed, putting dishes away, or doing laundry are activities that impact many of us. Exercise can be avoided (not that it should be) but day-to-day activities can’t. I really would like to change the language that physicians and researchers use from “exercise intolerance to activity intolerance.” All of us with McArdles have to think about every movement we make every day and how it will affect our bodies.

There is a lot of misdiagnosis with McArdle patients, including fibromyalgia, growing pains, or being told it’s psychosomatic. Since many are not diagnosed until later in life, they have often experienced repeated muscle damage and for some, muscle atrophy.

My training as a nurse and researcher, alongside having McArdles has enabled me to understand the patient perspective and how to help others. A few years ago, I founded the International Association for Muscle Glycogen Storage Disease (IamGSD).

One of the goals of IamGSD is to get more people diagnosed and at a younger age. Most people are not diagnosed until they are in their 30s or 40s, and we would like to see it closer to the age of 10. By lowering the age of diagnosis patients can learn to effectively manage and hopefully avoid muscle damage.

As an ultra-rare disease, it is understandable that many clinicians have not heard of McArdles and so they may not understand the nuances associated with this disorder. Many patients express their frustration in having to educate their clinicians. Beyond having to advocate for themselves medically, is getting current best evidence out to patients so they can manage day-to-day and help their friends and family understand the disease.

To help educate patients and clinicians, IamGSD is leading a multinational group of experts to develop clinical practice guidelines. These guidelines will encompass a wide range of issues (day-to-day management, medications, how to handle emergencies, impact on other health conditions, etc.) and will be available electronically for patients and clinicians.

We would also like to get information to schools. Students shouldn’t fail gym class because they can’t complete all exercises – never mind the risk of running into a serious health crisis. We must work towards lowering the average age of diagnosis.

I believe Patient Advocacy Organizations like IamGSD are an invaluable resource for clinicians, researchers, and patients. IamGSD is well-positioned to ensure the patient voice is heard, that research is patient-focused, and to provide clinicians with current up-to-date management guidelines.

For me, moving has been my medicine. We should all be moving our bodies, yet be aware of what activities may trigger an adverse event. But like others with McArdles, I too get frustrated at times that I have to think about McArdles every minute of every day.

 

Stacey is the president of IamGSD, an organization she co-founded a decade after her diagnosis of McArdle disease.
  • Share
  • twitter
  • facebook
  • linkedin
  • print
  • mail