Obvious problems from age 2

Bronte was always a very unhappy child and cried a lot. During nursery and school she tended to isolate herself and found making friends very difficult. I took her to our GP on a regular basis, starting from the age of 2 after she had a severe febrile convulsion. The GP always had an excuse – she was lazy, unfit, a malingerer, she had ‘clicky hips’, they even talked about putting her hips in plaster. To try to improve her fitness level we enrolled her in swimming, martial arts and cycling. She always swam at the edges of the pool and had bruises up her arms from hitting the sides out of exhaustion. After each session she would be ill with aching muscles and a high temperature.

Warning over attendance in high school 

I continued to pursue the doctors and was frankly not believed (I now know they refer to “health anxiety by proxy”). In junior school it was mooted by a doctor that they would look into leukaemia. You can imagine how all of this was affecting us as a family. In high school things steadily got worse and she was missing more school than she was attending. She had to get from one side of the school to the other and up and down stairs. She would freeze solid like a statue on the stairs, become immobile and then get a very high fever and be in bed for the next 4 days. I was eventually given a warning by the school over her attendance.

A bit of luck at last

We went back again to the GP and by sheer luck there was a locum on duty! She was very sympathetic and did a full range of blood tests. When the results came back one of the bloods was horrendously off. Bronte's CK (Creatine Kinase) levels were 32,000 U/L, whereas they should be a maximum of around 200 U/L. This indicated a high level of muscle damage and so at last there was something that the doctors really had to take very seriously. 

A massive shock, then starting to get clarity

We were sent to the local hospital in Norfolk who afterwards phoned me at 8 o’clock at night and said “Don’t Google it, but we think your daughter has Muscular Dystrophy”. I sat in shock for some time. Then followed a series of many hospital visits and eventually we were sent to Addenbrooke’s hospital in Cambrdge. The breakthrough came when two doctors looked at each other and said “We think it’s McArdle disease”. Bronte then had genetic testing and finally, after our 12-year diagnostic odyssey she finally had a confirmed diagnosis. That was the start of a much better experience as she was referred to the National Hospital for Neurology and Neurosurgery in London, where they have the national specialist clinic for McArdle’s staffed by a multidisciplinary team.

But there is no medical treatment

People typically have an even more extended diagnostic journey, finally getting diagnosed in their 30s, 40s and 50s, often not until presenting to hospital with kidney failure due to muscle breakdown overloading the kidneys. So Bronte was lucky to be diagnosed by age 14, However, the diagnosis was just the start of a new journey as there is no medical treatment. Although there are roughly 350 people diagnosed in the UK, the actual number of cases must actually be much higher. 

Being given such an ultra-rare diagnosis in teenage years, proved to be a heavy burden and Bronte went to some very dark places and had some suicidal issues. We had many sleepless nights. She dropped out of school sixth form and saw no point in life with continual pain. My eldest daughter then went on-line and found the man who literally saved her life and many more like her. Andrew Wakelin is the McArdle’s Coordinator for AGSD-UK, he has McArdle’s himself and is a patient advocate. He produces support material and organizes week-long courses walking in Wales.