From birth, I have lived with the rare condition Ullrich congenital muscular dystrophy.
It is a progressive, muscle-wasting condition caused by mutations in the COL6A1, COL6A2 and COL6A3 genes.
It is typically inherited in an autosomal recessive pattern (both parents are carriers of the mutated gene). However, in rare cases it can also be inherited in an autosomal dominant pattern (where only one parent has the affected mutated gene).
It frustrates me that so few people, medical professionals included, have heard of Ullrich congenital muscular dystrophy. In my experience, those who are familiar with muscular dystrophy tend to associate it with it Duchenne (the most well-known form).
Many people look at me now – a non-ambulant wheelchair user – and assume that I have always been this way (ie. unable to walk). This is not the case.
In order to raise awareness and familiarity of UCMD, here are a few photos of me growing up with this sadly unrecognised condition.
Above and below: My first wheelchair (manual). Prior to this I used what we, as a family, referred to a “buggy”. At this stage, I was able to walk short distances whilst wearing leg ‘splints’.
Below: In this photo I am around 11 years old. I loved this wheelchair (a manual, Quickie) as it was a sleek, black and purple design.
At age 10, I became unable to weight-bear. My muscles were simply unable to support my growing frame. It was therefore important to find a wheelchair that was comfortable enough to use all day long, whilst also looking half decent!
As you can see, the push handles on this chair were higher than average as all members of my family are tall. You wouldn’t think so, looking at me would you!
I always disliked the unusually high push handles (see above) as they stuck out above my head and were an aesthetic distraction.
Below: My next wheelchair – again a manual. I was unable to self-propel due to elbow contractures and muscle weakness.
Throughout my school years, I always used a manual wheelchair. This is one of the main reasons I hated school so much, since I was reliant on others to push me around. Wherever I was put, I stayed. It was incredibly frustrating.
Below: My Quantum F45 powered wheelchair (this model is no longer in production).
A relatively light-weight, rear-wheel drive with a narrow base, this chair served me well for many years.
This was in fact my second power chair. My first was a Jazzy Pride (front-wheel drive), which was great outdoors. Unfortunately I can’t find any photos to show you.
My Jazzy Pride wheelchair was purchased through public fundraising when I was 10-11 years old. At that time, there was just no way my parents could afford the cost of a powered wheelchair. Our local wheelchair services could not (or rather, would not) provide me with one.
Below: This is my current wheelchair – a Quantum 600, which I have had for almost 8 years. It is mid-wheel drive and VERY heavy!
I have to say – though it is a solid, sturdy chair – I wouldn’t replace it with the same make/model. Unlike my previous powered wheelchairs, it has let me down unexpectedly on various occasions and required quite a few pricey repairs!
It is rapidly falling to bits (literally) and most concerningly, the electrics are now failing. For this reason, I am currently on the lookout for a new chair.
These days, I primarily use a powered wheelchair rather than a manual chair, as it allows me greater independance and freedom of mobility. However, I do also own a Küschall Ultra-Light manual chair, mainly as a backup.
If you have found this blog post useful, I would be grateful if you could share to help spread awareness of Ullrich congenital muscular dystrophy.