My life with Ullrich congenital muscular dystrophy

Back in October I promised that at a later date I would get to the ins and outs of how my condition affects me. I think it’s about time I do just that in order for you to learn more about me and the impact UCMD has had on me personally.

Righty right, well I have a rare, degenerative condition called Ullrich congenital muscular dystrophy. The congenital part means that it’s present from birth. UCMD is just one form of muscular dystrophy, of which there are many. In fact, Ullrich CMD is in itself only one type of congenital muscular dystrophy. So before I go on I must emphasise that what follows is my personal experience.

There are, according to the muscular dystrophy UK website, over 60 forms of MD and its severity is wide-ranging. Therefore it would be inaccurate of me to say this is how it has affected me and so this is how it affects all those who have UCMD.

I have benefitted greatly from social media which has made me realise just how many people worldwide suffer from muscular dystrophy. I’m aware that the use of the word suffer will cause controversy as many do live happy, fulfilled, adventurous lives despite their disability. Nevertheless, there’s no getting away from the fact that it is sufferable. Life without MD would doubtless be immeasurably less stressful physically and mentally.

Having read accounts from others with MD I’ve realised that everyone is first and foremost an individual, and experiences differ significantly. There is no definable check list, for instance: this will happen to you at this age and you will all be pushing up the daisies before you’re 40. We’re not robots, we do not all operate, function and malfunction in the same way.

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
  • Progressive
  • 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.

 My experience:

  • Born with dislocated hips and ‘floppiness’. At 2 weeks of age I was put in plaster for 12 weeks to realign my hips. 20161130_211543
  • 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. 20161130_213022
  • 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.20161130_212939
  • 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 & 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. Why you ask. 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 MD, 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, the life I’m living now, 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.
  • 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!
  • *If anyone would be interested in a separate post all about my SPC experience, please let me know.
  • 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 find at 28 years old, I am physically exhausted all day every day. Fatigue and overall weakness is the norm, and it is getting worse.
  • 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!carrie-aimes-recent_with-permission

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 MD, nor what day to day life is like. This is why I really appreciate the various Facebook groups and the MDUK forum. People from all walks of life who are affected by MD can discuss whatever they wish with others who understand exactly what they’re going through.

If you have any questions at all, or wish to know about anything in more depth, please don’t hesitate to ask.

14 thoughts on “My life with Ullrich congenital muscular dystrophy”

  1. Thanks so much for sharing. My grandson has this disease and he is three years old. You are a true inspiration. Carter Rhodes is a fighter and has already proved the doctors wrong as he walked into his appointment, and I think he will continue to amaze. May you continue to keep your positive outlook and I hope you have a great holiday season. God bless you and your family.

    1. Thankyou so so much for taking the time to read, & for your lovely comment. That has truly made my day! I’m always here if you’d like to ask any questions or just fancy a chat. Your grandson sounds like a brilliant young man!
      I thank you again & wish you all well.

  2. Wow this is an awesome, helpful post. I hope you can meet or mentor my daughter Lily, age 7, who has Ullrich CMD. Thank you for your honesty and sharing.

    1. Hi there Jen, thankyou so much for reading & commenting. Of course if I can help or advise you and your daughter in any way I’d be more than happy to!
      All the best to you.

  3. I admit, I have not been on this blog in a long time, however it was joy to find it again. It is such an important topic and ignored by so many, even professionals! I thank you for helping to make people more aware of these issues. Just great stuff as per usual!

  4. Thank you for taking the time to write your life experiences so the people like me can have a better understanding about MD. I don’t really know anyone with MD but I have seen others at school, in the Mall at church and just in their daily struggle with MD. So I started reading your post and couldn’t put it down.
    I’ve been a nurse for about 20 years. I had an accident and injured my spine. I had a spinal fusion and had to retire. I feel like I have so much to give but can no longer work bedside nursing.
    I think that I will reach out and volunteer to give others a night out without worries. O will care for thier love ones. Thank you, because of you I will seek to give others a blessing.

    1. Marcia thank you so much for your lovely message! It means so much to me that you took the time to read my blog & got something from it.
      I’m so sorry to learn about your accident & subsequent spinal fusion! Sounds like you have quite a story of your own to tell.
      Volunteering sounds like a great idea! I wish you all the luck x

    1. Thanks so much! Really appreciate your support
      Yep, I think you’ve just got to get on with it & make the best of what you have. The only alternative is to lay back & let it defeat you.
      x

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