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My life with Ullrich congenital muscular dystrophy

28 February 2017

In this blog, Carrie Aimes describes her life living with Ullrich congenital muscular dystrophy.

Today (28th February) is Rare Disease Day, the chance to raise awareness of conditions affecting around 3.5 million people in the UK. Around 75 percent of those living with a rare disease are children. At Muscular Dystrophy UK, we bring together people living with one of 60 different rare and very rare muscle-wasting conditions. Most of these affect around one in every 1,000 people in the UK.

I have a rare, degenerative condition called Ullrich congenital muscular dystrophy (UCMD). The congenital part means that it’s present from birth.

Having read accounts from others with muscular dystrophy I’ve realised that everyone is first and foremost an individual, and experiences differ significantly. We’re not robots, we do not all operate, function and malfunction in the same way.

Born with dislocated hips and ‘floppiness’, at 2 weeks of age I was put in plaster for 12 weeks to realign my hips. I didn’t crawl, climb or walk at the normal rate. I only started to walk at 19 months old. My parents were aware that something was wrong and so they pushed for a specialist referral. My mother was told by her GP that she was an “over reactive mother”.

At 4 years old I had a muscle biopsy performed and was diagnosed with congenital muscular dystrophy. My parents were told very little, just that I would experience overall muscle weakness but mental ability would not be impaired. Doctors didn’t know if or how my condition would progress, nor if it would stabilise following puberty. They didn’t know if I would ever need to use a wheelchair.

I wore specially made leg splints as a child enabling me to walk short distances. For longer distances I used a ‘buggy’ or manual wheelchair. I stopped walking quite abruptly at age 10. At the time this was unexpected, shocking and incredibly distressing for both me and my family.

I became non-ambulant and started to use a powered wheelchair full time. We raised the money for my Jazzy Pride electric wheelchair through sponsored events, charitable donations, fundraisers and public appeals; my story was put in newspapers and school newsletters (this was pre-social media folks!). It’s amazing how generous people can be.

I then stopped wearing the leg splints as I was no longer walking. I could finally wear nice shoes, yeah! A silver lining after all.

From around 11 years of age I began to wake every morning with debilitating headaches and nausea. This was due to a nocturnal build up of carbon dioxide in my body, having failed to effectively expire the waste gas during sleep.

From the age of 4, I had 30-60 minutes of physiotherapy once a week at school. But it came to an end when I turned 14. Literally one week my physiotherapist was there, and without a word of warning, the next week she wasn’t. I was then told that if I wanted to continue with my physio, it would have to be carried out by my parents or a carer.

Following a second muscle biopsy at around the age of 18, my diagnosis was narrowed down to Ullrich congenital muscular dystrophy. At the time this really didn’t mean anything to me. I didn’t learn anything new and nothing changed. And so I just carried on with my life as I had been.

I attended mainstream school before moving on to a Sixth Form College where I completed A-Levels in Fine Art, English Language and History. I then attended a local university, commuting everyday via taxi. After three years I achieved a BA (Hons) degree in Art and Design and English Literature.

I’ve always had scoliosis (curvature of the spine) to some degree, although the severity progressed significantly after I became non-ambulant. At around the age of 9 my parents and I were told I would need a spinal fusion to correct the scoliosis and prevent any further curvature. Again we were given little information, no case study to refer to and little time to make a decision. I do remember vividly how the seriousness of the operation was emphasised. In particular, “you could die” stuck in my infant mind. In the end, I, we, decided not to go ahead with the spinal fusion.

I’m not sure I can tell you why exactly. We’re going back nearly 20 years, this surgery has advanced considerably since then and is not now the horror it once seemed. Ignorance is bliss as they say. Had I been able to talk to others in the same position, older individuals with muscular dystrophy, people who had gone through the surgery, perhaps my decision would have been different. If I could have looked into a crystal ball to gain some insight into my future, I think I would have put myself through the relatively short-term trauma for the long term benefit. But alas, you live and learn.

Scoliosis affects posture, balance, respiratory function and causes pain, discomfort, pressure sores and asymmetry of the torso. It is very difficult to find clothes that fit because of my lumbar deformity. Because of the scoliosis my torso is squashed and so too are my organs. This means that I become full, bloated and breathless after small quantities of food.

Due to the weakness in my neck I’m unable to lift my head from a pillow when lying flat. I cannot sit myself up from a lying down position or support my own weight at all. I’m unable to transfer independently, and at only 5.5 stone (77lbs) I’m usually lifted manually or otherwise hoisted.

I can’t turn myself in bed. However, I bought a satin bed sheet and wear silky pyjamas which allow me to slide myself from side to side. This means I don’t have to rely on someone to reposition me throughout the night.

In October 2011 I opted to have a suprapubic catheter (SPC) for practical reasons. I have no functional continence issues. Purely due to the severity of my contractures, muscle weakness and inability to transfer, there’s no other way for me to empty my bladder independently. My SPC means that I no longer need the assistance of anyone else to carry out this personal task. Boys, don’t get me started – you don’t know how lucky you are!

I currently live with my parents in their house. I have a ground floor bedroom and ensuite bathroom extension which was built when I was 12 years old. My parents received a grant towards the cost but were means-assessed and so they had to extend their mortgage in order to fund the excess.

My parents are my primary carers, although I employ someone a minimum of 5 mornings per week to get me out of bed, washed, dressed and ready for the day. I also employ another personal assistant who transports me in my Motability wheelchair accessible vehicle (WAV) to social activities and appointments. Occasionally my parents need a break from home, and from me I’m sure. When they’re away, my carer attends in the mornings as usual and returns in the evenings to cook dinner. She will then sleepover in the spare bedroom upstairs in case I need anything during the night and for safety reasons.

As I have aged, my declining respiratory function has become the main cause for concern. Chest infections have become worse and more serious as a result. A frequent inpatient, I have had pneumonia more than five times, pleurisy twice and a spontaneous pneumothorax (collapsed lung) which required a chest drain.

I now find at 28 years old, I am physically exhausted all day every day. Although my condition is progressive and life limiting, there’s no way to determine exactly when my time is up. No doctor in the land can predict what age I can expect to live to. As such, I prefer to put this to the back of my mind and try to live as ‘normal’ a life as possible. Whatever normal is!

If you or someone you know is affected by muscular dystrophy, in particular UCMD, perhaps reading my account may be of some benefit. I firmly believe that sharing our experiences, and offering advice and support is invaluable. If, as a child, I had been fortunate enough to know others living with the same condition as me, perhaps my life could have been enhanced in many ways, learning through their knowledge and wisdom.

Doctors, though essential of course, cannot tell you how it feels to live with muscular dystrophy. This is why I really appreciate the various Facebook groups and the MDUK forum where people from all walks of life who are affected by muscular dystrophy can discuss whatever they wish with others who understand exactly what they’re going through.

Join the Muscular Dystrophy UK community

Share your experience and find advice from others with similar conditions.