PERSONAL STORY OF MUSCLE GSD

THREE UNUSUAL EXCEPTIONS

My name is Melanie, I live in Georgia and I have always been very isolated in regard to my McArdle’s, never having had the opportunity to meet face-to-face with anyone else with the condition. Recently I have become aware that my story is typical of people with McArdle’s, but with three unusual exceptions from the norm.
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Name: Melanie Graves

Country: USA

GSD: McArdle’s (GSD5)

Diagnosed at age: 24

Age at writing: 54

Date: 02/2022

Symptoms from first grade

 

Casting my mind back to my childhood, I remember all the typical symptoms that we experience. PE class was horrible, there was no way I could climb a rope and I could not do sit ups, though strangely I could do press ups! When I started high school, it was a walk of three or four blocks to get home, slightly uphill, and I had to stop numerous times, whereas my friends could just walk straight through.

 

During my college years, I had a very physical job in the healthcare sector, working with mentally challenged adults, most of whom were physically disabled.  Thus, I kept very active, not just with my job but also volunteering two evenings a week. This obviously helped to keep me fit, but also was too strenuous at times. Then in college at age 23 in 1991, I was asked to do an exercise test on a static cycle, and within one minute my heart rate was up to 165 bpm! The test was stopped and it was questioned whether I had a medical condition. Later that year, there was another red flag when I moved in with my sister in her apartment on the third floor. When we walked up the stairs together, I always had to stop whilst she continued up the stairs.

 

Finally a medical investigation

 

It was in October that year that I finally accepted that I had to get a medical investigation. I had gone to the theatre to see “Phantom of the Opera”. There were so many stairs, and after a long day of taking a college exam, I was extremely tired. When we were walking up the stairs, my legs gave out and I actually collapsed on the stairs, unable to move. Following that incident, I went to my GP and they found my CK was raised, which led to a muscle biopsy. I was sent to Emory University Hospital, Atlanta, GA, where they did an ischemic forearm test, which was extremely painful. I am very pleased to hear that the forearm test is no longer done ischemically. Finally, in January 1992, I got my diagnosis of McArdle disease, at the age of 24 – so a typical delay of about 20 years from my initial symptoms in first grade.

My first bad episode of rhabdomyolysis

 

After obtaining my Psychology Degree, I continued my career working with developmentally disabled adults. In 1995, I decided to further my education and career, and enrolled in an Occupational Therapy Assistant program. After becoming a Certified Occupational Therapy Assistant (COTA/L), I worked in Skilled Nursing Facilities and then worked in two large hospitals. With that being said, I  still had a very physical job.  Also, there was always lots and lots of walking, so I maintained my physical fitness. However, I realized that having McArdle’s helped me to relate better with my patients.     

 

But then in 2002, at age 34, it all changed. My husband, Robert, was moving a TV cabinet on a roller cart and the cart got stuck in the doorway. We pushed the cabinet out of the doorway.  At the time, I really didn’t feel much muscle soreness. Then, about one week later, we went to stay at a hotel where I planned a surprise birthday party for my father. The hotel was about three hours from our house and after the long car ride, we started unloading the car. I was carrying a shoulder suitcase bag up two flights of stairs. My legs began to cramp and I collapsed on the stairs. My husband rushed me back to our local hospital. I had a bad episode of rhabdomyolysis with coke-colored urine. I was admitted to hospital where they found that my CK was 357,000 iu/L.

 

My first unusual exception from the norm was that I had developed compartment syndrome, which I understand only a few of us do [1].  My left thigh muscle was swollen so a sonogram was performed to check my circulation. The test was normal. However, a manual test by the doctor showed the circulation was cut off. So, my GP argued with the insurance company to get a fasciotomy (surgical release of the pressure) approved for my left thigh. My main concern was my kidneys as I imagine they were overloaded. Due to the IV fluids, I developed pulmonary edema (fluid on the lungs), but luckily I did not need dialysis. As I recovered, I think I must have returned to activity too soon, as I had two more episodes of rhabdomyolysis over the next two weeks.

 

Through those challenging times and throughout my life going forward, my faith, and the love and support of my husband Robert and my whole extended family (and friends) have really helped me cope. I don't know where I would be without them all.

 

After my long recovery, I had to change my career, which I loved and greatly enjoyed.  When I returned to work, I moved to an office-based job changing my career to a position in Human Resources. Thus, the physical demands were much reduced. My employer covered me under the Americans with Disabilities Act and so I was supported to remain in work. Fortunately, my previous career helped me with coping with my new limitations and I realized that my career had come a full circle.

Our own best advocate

 

From my own experience, I believe that it is very important for us to be our own best advocate not just with employment, but also when dealing with insurance, doctor/healthcare professionals, during appointments or at the hospital, etc. We know our bodies and the nuances of how McArdle’s affects it, whereas most doctors have just read about it in an (out-of-date?) textbook.

 

Later, I joined the AGSD US and thought I would learn more about McArdle’s by attending their annual conference in North Carolina in 2006. Unfortunately, the program had nothing much related to McArdle’s. However, my husband and I met Dr. Slonim, who sent me information regarding his three-day evaluation for McArdle’s. I understand AGSD US are doing more for McArdle’s these days, but it is always worth checking before making a booking.

 

Three days with Dr Slonim’s team

 

My second unusual exception from the norm came in 2008, when I was one of the few people lucky enough to be able to visit Dr Alfred Slonim in New York [2]. At that time, he was one of just three doctors in the US particularly experienced with McArdle disease. I spent three days with his team. I gained a lot from learning about “second-wind” and how to exercise safely. Realising how important that is, I obtained a treadmill and I do a 40 minute session 3 times a week, though I do only walk slowly – a maximum of 1.5 mph to 1.7 mph.

 

Over the 20 years since that first series of episodes of rhabdomyolysis, I have had about another dozen episodes, these days less frequently and less severely. So far, I have not required dialysis during any of the episodes. I am careful with my activity and now the episodes tend to happen when I am not well for other reasons. The most recent was when I was throwing up and coughing and my abdominal muscles were affected. My CK got up to only 12,000 iu/L.

 

My nephrologist (kidney doctor) has been over my care since 2002 and continues to look after my care. To the best of my knowledge, there are not any other doctors in Georgia with her experience with McArdle’s.

More walking adventures with Robert
More walking adventures with Robert

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Three days with Dr Alfred Slonim’s team.
Three days with Dr Alfred Slonim’s team.

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Country walks with my husband Robert.
Country walks with my husband Robert.

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Scroll through a few photos of my good life with McArdle’s.

Now working from home

 

I have adopted the motto “Improvise, Adapt and Overcome” from the Marines as my husband, Robert, was a Marine. I am still working a 40-hour week. In 2018, an assessment of everyone at work led to concern that I might not be safe with the stairs in the event of a fire.

 

My third and final unusual exception is that my employers very kindly offered for me to be allowed to work from home [3]. Aren’t I lucky, this suits me very well.

 

I have to be vigilant to keep active. Robert and I have bought a Jeep and we go out on Jeep trails where I can walk easy paths, and I really enjoy it. We also have two dogs and the younger one, Bella Lou, is a very rambunctious Beagle puppy, and keeps me very active. She is always wanting to play fetch with a ball in our yard. When my arms get tired from throwing the ball, I use one arm until it tires and then I use the other arm, which makes it a lot easier. My husband Robert and I divide up the household chores so that I can avoid the ones, such as vacuuming and sweeping, that give me the most problems.

 

Dr Slonim had suggested a high protein, low carb diet and I did this for some time. More recently I have joined the “Ketosis in McArdle’s” Facebook group. About two years ago, I was found to be pre-diabetic.  I lowered my glucose so that I am no longer pre-diabetic and whilst I don’t do full ketosis I do stick with very low carbs and find that is best for both conditions. Water is my favorite drink and I drink about six bottles a day, which is good for my kidneys as well as my muscles.

Looking forward to meeting

 

It is now 30 years since my diagnosis, and all this time I have never met face-to-face with another McArdle’s person. Having now found IamGSD I am looking forward to making lots of friends in the McArdle’s community and swapping notes. I hope that sharing my story will be of some help to others, especially the newly diagnosed.

 

Footnotes from IamGSD:

[1]   IamGSD estimates that less than 1% of cases of rhabdomyolysis in McArdle people develop into compartment syndrome.

[2]   An estimated 50 people had the opportunity of such a visit with Dr Slonim, out of probably over 2,000 people diagnosed with McArdle’s in the US.

[3]   It is still unusual for employers to act responsibly, but disability and protected rights legislation around the world is helping to improve the situation.