First symptoms at age 3

Probably the first time I experienced symptoms of McArdle disease was at the age of 3. After a fever cramp (quite common in young children) my urine was reddish. Everyone thought it had something to do with an infection of my urinary tract, but those tests didn’t find anything and they didn’t investigate any further.

With hindsight it is quite clear that my McArdle disease was responsible for the red color of my urine, but at that time no one knew.

Swimming, basketball, skiing

I was very active before my diagnosis. I went swimming and played basketball in a youth team. But I could not measure up to my team mates, running and especially sprinting was very difficult for me. The trainers always told me that if I trained enough I could match the others, which of course did not work out. Because of all that pressure, I started to avoid the training sessions and finally dropped out of the team when I was 12.

Two years later I went skiing in the Austrian alps with my school. I was, and maybe still am, good at skiing so I looked forward to it. But the first day changed a lot of that. It snowed heavily, so the ski runs were in bad shape. Apart from that we had to run in the deep snow as a warmup for the actual skiing. In the evening I went to the toilet and noticed that my urine was reddish. This was the first time I really knew that something was wrong. But it went away after a day, and I put it out of my mind. Which I now know was not a good idea.

The first major rhabdomyolysis

In September the same year (2016) on the first day of the new school year, I carried a heavy bag with all the new school books. In the evening I went swimming, because of the hot weather, but the water was very cold, and I started shivering. The next day we had sport in the first two hours of school. We did a tough sprinting game and after it I felt as though I had a contracture in every muscle of my body. Two hours later I nearly collapsed because I was so dizzy. Again, I noticed that my urine had a different color, but this time much darker than ever before. I thought that it would go away like it did the last time but, it actually got worse.

The next evening I went to hospital, because I was in a very bad way. I could not eat or drink anything, I was throwing up the whole time. They did a lot of tests and found out that I was suffering from acute kidney failure. After four weeks in the hospital, five sessions of dialysis and many blood tests, my kidneys finally started working again and I could get out of hospital. Whilst there they had conducted a muscle biopsy and, after another four weeks, I received the diagnosis of McArdle disease (since confirmed by genetic testing). But sadly, nobody could tell me what to do. My kidney function was good, and still is, but I received no advice regarding McArdle’s.

Trying to figure it out

Until 2022 I thought I could figure it out myself, but I didn’t manage it. I again had some bad episodes of rhabdomyolysis – for example after climbing stairs and swimming in cold water. I tried to exercise, but it didn’t work as I expected because I was not getting into second-wind.