PERSONAL STORY OF MUSCLE GSD
FROM DIFFICULT DIAGNOSIS TO HELPING OTHERS
Rachel Thomas tells the story of her daughter Bronte’s journey from an unhappy 2-year-old, through years of investigations to an eventual diagnosis of McArdle disease – an ultra-rare genetic condition, at age 14. Then finding good information from the doctors and the support networks and gradually learning how to manage well. Bronte now passes it on to others.
McArdle disease (Glycogen Storage Disease type 5) is a disorder of energy supply which causes exhaustion, cramping and muscle pain in everyday physical activities. It is an inability to release glucose from the glycogen stored in skeletal muscle. If activity is continued whilst in pain, muscle breakdown (rhabdomyolysis) ensues which can lead to acute kidney failure or compartment syndrome. “Physical activity” encompasses not only walking but everyday things such as opening a tin or bottle, holding a shopping bag, looking over your shoulder whilst reversing a car, coughing, laughing, being on tip toe, etc.
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.
Visiting Andrew in mid Wales, learning from the master!
Exhileration on a descent on a course in Pembrokshire National Park.
Bronte shows Lucy and Irene “planking”, being careful to avoid cramps.
Visiting Andrew in mid Wales, learning from the master!
Flip through some photos including ones from the walking courses.
Meeting others with McArdle’s
The first year we took Bronte on one of Andrew’s courses she initially would not talk to anyone, would not engage at all. But gradually the ice broke, and the benefits of making friends and learning techniques began to show. We have now been going for 6 years and Bronte lives for the walking courses. In 2022 she started to lead the walks for the “Children & Parents” event, it's a great benefit that the younger children now being diagnosed can easily relate to Bronte, being so much closer to their age. My eldest daughter, myself and my husband all go to support the events with driving, shopping and cooking. People from all over the world come to learn how to manage, to leave wheelchairs behind and to find friendship. It has been life changing.
Following in the footsteps
Although Bronte lives with some pain and with the ever-present risk of kidney failure or compartment syndrome in the background, she is now following in Andrew’s footsteps and using her experience to help others who are newly diagnosed. In 2023 on the walking course we had 6 children and teens and some were in a bad way. Under Andrew’s supervision, Bronte was able to lead them through training sessions and on walks in the countryside, coast and mountains of Wales. After just a few days they left feeling positive, more confident that they can look after themselves, and looking forward to next year, when they can again be with the tiny percentage of the population who actually understand them.
Bronte here explains her current fitness approach
“Before my McArdle’s diagnosis, I was always very sport-orientated. Because of previous misdiagnoses I was enrolled into a competitive swimming team, and was playing football, squash and tennis on a weekly basis. After getting diagnosed I felt a bit lost, like I’d lost my ability to perform sports the way I had before. However, from this I found fitness. Going to the gym and staying active is incredibly important to me especially with my condition, it allows me to strengthen my muscles and perform better overall. Consistency in the gym and with my aerobic and anaerobic exercises has made me physically and mentally stronger, whilst also propelling my confidence enough to help lead the Wales walking courses, and hopefully courses across the globe in the future. With my disability as an asset, I hope to become a disabled personal trainer, and focus on training my disabled peers, helping them to elevate themselves despite having a chronic condition. Having McArdle’s is not my weakness, it has made me who I am, and propelled me to new heights with my fitness. The experiences I have with my condition has added to the understanding I feel for those around me, and with my physical performance in the gym, I hope to combine my empathy, understanding and strength to allow me to educate people with McArdle’s on how they can benefit from fitness.”
Graduating from university
Bronte initially struggled with university, but after dropping out for a while in year one, she has now graduated with a BA in Film and Television. Bronte’s self confidence has grown, and she even gave a talk at the AGSD-UK annual conference. Currently Bronte is working in student support at the University of East Anglia whilst also looking to train as a personal trainer with a specialism in helping people with rare disabilities.
In addition to the walking course in Wales, in 2024 Bronte is hoping to help out at a McArdle’s walking course in Germany. In 2025 a McArdle’s group in Australia would like Bronte to fly over to run a course for them. She is passing on what she has learned and is helping to change the lives of others for the better. She is my hero!
SUPPORTING IAMGSD CAMPAIGNS
From our experience, both Bronte and myself are fully in support of the IamGSD Campaigns. In particular these three: “Reducing the age of diagnosis”, “Helping patients to understand”, and “Encouraging regular physical activity”. We believe that these three objectives can greatly improve the quality of life of those affected by McArdle’s.