PERSONAL STORY OF MUSCLE GSD
INCREASED ACTIVITY PAYS OFF
I am 20 and live in the USA. I was diagnosed with McArdle disease at the age of 14, by genetic testing. The same year as my diagnosis I attended an IamGSD walking course and learned a lot about how to manage my condition.
Name: I am remaining anonymous
GSD: McArdle’s (GSD5)
Diagnosed at age: 14
Age at writing: 20
Active as a child
I was quite active as a young child and I did martial arts and karate. I was probably only aware of problems with my muscles from the age of around 11 or 12. One of the things that stood out to me was that our schools have a program of fitness tests which include a one-mile run. Despite being reasonably fit and not overweight, I could never complete the run, when all my friends could!
Over several years I had five or six episodes of what I now know to be rhabdomyolysis with myoglobinuria.
Moving a tractor tire!
The major episode which finally got me on the path to diagnosis was at age 14 in a physical education class, when we had to man-handle a large tractor tire. That was a major struggle and immediately afterwards, all the muscles in my back tensed up. It was extremely painful and I had the classic dark urine. This time there was no doubt that I had to go to hospital.
My CK came back at 146,000 iu/L, which is about 500 times the top of the normal range. I was very lucky that a doctor took a significant interest and recommended that I take DNA testing to find out what was wrong. The hospital got us a grant to cover the cost of a Rapid DNA test. They checked a long list of possible genes, I think it was either the rhabdomyolysis panel or Whole Exome Sequencing. Amazingly the results were back in just two days and I had my diagnosis of McArdle’s.
Some seizures, but no longer
In the following few years I had several epilectic-like seizures. Tensing my muscles during the seizures would push my CK levels up. There was considerable confusion about whether high CK levels were prompting the seizures, but of course it was the other way round.
I am very pleased to say that the seizures seem to have stopped as I have not had one for a couple of years. Apparently it's relatively common for adolescents to have a few of these seizures and then for them to stop happening.
IamGSD walking course
In October 2017 my parents and I attended the IamGSD walking course in organised by Jeremy Michelson, Andrew Wakelin and Stacey Reason. (Days earlier a forest fire had forced relocation and new routes had been hurriedly scouted out!)
It was the first time that I had ever been able to meet anybody else with McArdle’s and it was great to hear their accounts of how they had coped. On the walks it was a revelation to be able to compare notes and understand how we all recognised the symptoms and responded appropriately. The last walk was 7 miles, with 700 feet of ascent, yet I did it and felt pretty good! It would be wonderful if everybody with McArdle’s could have the opportunity of joining such a course.
A crazy mistake with CK
A strange thing happened on our way home from the course. My mother was concerned that I seemed to be suffering a little with my muscles, so we called in at the hospital to have a CK test. The doctor said it was 40,000 iu/L and advised that I should be admitted and put on IV fluids. My mother got in touch with Andrew, and he felt certain that there was something wrong with the test result. He had been with me just hours before and knew how I had been on the day’s activities. He recommended checking the result with the doctor, as sometimes mistakes are made on these high levels of CK. The doctor was somewhat embarrassed to admit that he had been expecting a high result because of my history and had read the report as 40,000, when in fact it was 4000.
At least the error was in the safer direction, it would have been very bad if my level had been 40,000 and they reported it as only 4000. I suppose that is a learning point for us all. With a very rare disease we really have to be our own best advocates.
Pleased with progress
For about the last year I have tried to be more active and to get my aerobic fitness to a high level. It has really paid off, I feel much better and have far fewer symptoms. I now typically go for a good walk three times a week, last Friday I did a walk of over 6 miles.
Last fall I bought a new bike. I think my parents were a bit worried about it, but I took it gently and have gradually learned to recognise the muscle signals I get when I start to over-do it. I can always stop for a rest or perhaps get off on a hill to walk and push the bike. I have gradually improved the fitness of those leg muscles and now I am happy to do a ride of up to 15 miles. Sometimes, when I get home I'm feeling so good that my mother thinks I must be in “third wind”.
I seem to have really learned what activities I can do at my own pace and do really well. I listen to my body and take notice of the signs. I avoid activities which might be too risky. (I am never again carrying tractor tires!) I have had no bad episodes of rhabdomyolysis for about two years, and I am really hopeful that they are a thing of the past.
A note from Mom.
I just wanted to let you know he bought a bike and has already rode 35 miles this past week. I am just amazed that he is able to do this. He has come so far in the last year. Seeing him ride his bike is like watching him walk for the first time. I never thought he would be able to hike, much less ride a bike again. Thank you to IamGSD for all your support.