I have the rare, degenerative, genetically-inherited condition Ullrich congenital muscular dystrophy. The congenital part means that it is present from birth. Ullrich is just one subtype of congenital muscular dystrophy.
Disclaimer: I must emphasise that the following information is representative of my own personal experience.
There are, according to the muscular dystrophy UK website, over 60 forms of muscular dystrophy. The severity is wide-ranging.
In recent years, I’ve learnt that the number of people, worldwide, living with muscular dystrophy is far greater than I previously thought. Social media has introduced me to many – some of whom I’m fortunate to call friends.
Through discussions with fellow MD‘ers, I’ve realised that we are all individuals and our experiences of life with MD differ significantly. Despite what some medical professionals believe, there is no definable check list. For example: ‘everyone with UCMD will be affected by ‘X’ at ‘Y’ age and they will not live beyond 40 years old‘. This is simply not the case. We do not all operate, function and malfunction in the same ways.
A Brief Introduction to Muscular Dystrophy:
- 70,000 people with MD in the UK
- Very rare, affects 1-1000 people
- Genetically inherited muscle wasting condition
- There is currently no cure for MD
- There are many forms of MD – over 60
- The most commonly recognised is Duchenne MD
- UCMD is a type of CMD. It affects c.50% of the 400-500 people with CMD
- UCMD is caused by the lack of a vital protein needed to support muscle cells.
- 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. As a baby and even into infancy I ‘bum/belly shuffled’ from around 7 months old. I only started to walk at 19 months old. My parents were very much 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”. What an asshole!
- 4 years old – muscle biopsy performed by Dr Helen Roper at Birmingham Heartlands Hospital. I 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 wheelchair.
- I wore specially made leg splints as a child enabling me to walk short distances, around the house and school.
- For longer distances I used a ‘buggy’ or manual wheelchair.
- I have never been able to walk up or down steps.
- At age 7, I had my tendons released in both feet and ankles as they were turned inwards. Following the operation my feet were held in position in plaster casts for 6 weeks.
- 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 – strangers – 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. This mostly involved stretches to maintain what flexibility I had, 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. It wasn’t a case of; we’ve defined it as UCMD which means we can give you this treatment. There is no cure for muscular dystrophy. 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 English Literature.
- I’ve always had scoliosis (curvature of the spine), 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, we decided not to go ahead with the spinal fusion.
- 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.
- I have contractures of the joints & tightening of the tendons in my ankles, knees, hips, elbows and wrists.
- 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.
- Because my movement is limited and I cannot exercise, I have poor circulation and very cold hands and feet. Corpse feet as I refer to them.
- It is difficult for me to regulate my body temperature.
- October 2011 – I opted to have a suprapubic catheter 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 (suprapubic catheter) 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. Prior to that I had a bedroom upstairs which I accessed via a stairlift. Having stopped walking at age 10, struggling up and down stairs and on and off the stairlift became impractical, hence the need for a ground floor extension.
- 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. After all I’d be pretty screwed if the house set alight while I was alone in bed. I’m afraid I would have to just lie there and fry. Good job I like the heat eh!
- 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.
- Following a particularly bad bout of pneumonia in March 2012, I commenced nocturnal non-invasive ventilation. I use a Resmed Stellar 150 biPAP machine with the Resmed Swift FX Nano nasal mask.
- NIV (non-invasive ventilation) ensures that oxygen and carbon dioxide levels are normalised. I no longer suffer from associated headaches or nausea.
- Medication and treatments: BiPAP machine (NIV), Salbutamol inhaler, I have antibiotics on repeat prescription to treat a chest infection, and I have a Nebuliser with saline and Salbutamol nebules which I use when I am ill.
- I now experience constant physical exhaustion and extreme fatigue.
- 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!
I firmly believe that sharing experiences, and offering advice and support, is invaluable. If, as a child, I had known others living with the same condition, perhaps my life could have been enhanced with the benefit of shared knowledge and wisdom.
Doctors, though essential, cannot tell you how it feels or what day to day life is like. This is why I really appreciate MD-associated Facebook groups and the MDUK forum. People can talk candidly with others who understand exactly what they’re going through.