Christian and Mom Navigate McArdle Diagnosis

Grace recounts her son’s McArdle diagnosis:

I recall the day I picked Christian up from school and he said his back was hurting him. He was 14. That day in P.E. class he lifted an 80 lb. tire and ran a relay. He had muscle pain and wasn’t feeling well. A chiropractic visit later that day still didn’t help his pain. Finally, he told us that his urine was very dark – almost black. I got a red Solo cup and told him to pee and bring it to me. It looked like coke. At that point, we headed to the hospital.

 

The hospital pumped him with one intravenous drip (IV) after another and transferred him to a local children’s hospital. He was discharged after five days but we found ourselves back at the hospital multiple times over the next two months. His neurologist and other doctors ran tests but couldn’t figure out what was wrong; finally, they sequenced his genome.

 

Two days later Christian was diagnosed with McArdle disease. We had a name for it but it was a letdown because they didn’t know much about the disease except there wasn’t a cure. The doctor told us it was ‘physical intolerance.’ I thought, ‘that’s not too bad; so, he can’t exercise; he doesn’t like to anyway.’ This disease affected all of his daily activities – basically his daily life.

After his diagnosis, Christian had a major setback that most do not – he started having seizures and they continued for nearly a year. The doctors didn’t know what triggered the seizures but thought it could be stress-related. Imagine at age 15, you wake up one morning after being diagnosed with a rare disease and a different body than you had the day before. It is a lot to deal with for an otherwise active teenager.

Christian shares his journey:

I started noticing symptoms at a pretty young age. I was in the 4th grade. I would get very tired walking and would have to stop. I made up excuses and I would untie my shoe before walking just so I had a chance to stop and rest.

I remember that in middle school, we had to run a mile for P.E. I would almost always be the last person to finish – it was frustrating. Even though some kids and even some teachers were not very nice about it, my athletic friends would finish the mile and then finish it again with me.

 

I was in MMA (mixed martial arts) for 6 ½ years starting when I was 9. It was demanding. Every single class I struggled, and when running, I had a hard time keeping up with others. Sometimes I would just stop and it was embarrassing. My instructor saw me struggle and thought I had asthma. He tried to motivate me along with my friends. Some students would stay behind with me and cheer me on saying, ‘you can do it.’

 

It got harder in high school. I participated in the state physical fitness test. We had to do several activities, including sit-ups and I had a really hard time. I failed. But worse, I had really bad stomach cramps and my muscles were so tight I couldn’t stand up. But like so many other times, I just dealt with it, thinking I was simply not as athletic as the other kids. After being diagnosed with McArdle, the school and teachers provided accommodation and my friends were even more supportive.

Now I’m 18. I graduated high school last May. With COVID, I haven’t been very active and last summer was rough. I had five hospitalizations and many of them were just from doing small, everyday activities. I went swimming with friends, and that put me in the hospital; I gave my dog a bath – a very small activity – and that sent me to the hospital. Other than pain meds and IVs to flush my system, doctors can’t do much.

It takes months to recover. I realize now how important it is to maintain some level of consistent activity and always be mindful of my disease.

 

Personally, I’d like to see more education for schools and doctors about McArdle. From the outside, I look like a healthy kid so I should have no problems doing normal activities like everyone else. Teachers and others should be more informed that these rare diseases exist and sometimes they are just not seen.

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