My Life with Ullrich Congenital Muscular Dystrophy

Allow me to introduce myself.

I’m Carrie, born in 1988 with the rare, genetically-inherited condition Ullrich congenital muscular dystrophy.

“What’s that?”, you ask. Let me explain…

The congenital part means that it is present from birth. Ullrich is just one subtype of congenital muscular dystrophy. It is also progressive and life-limiting, meaning that symptoms become gradually worse over time.

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 our symptoms and experiences differ significantly.

Despite what some medical professionals believe, there is no definitive check list! For example: ‘everyone with UCMD will be affected by X, Y, Z at this age, and they will not live beyond 40 years old‘. This is simply not the case.

A Brief Introduction to Muscular Dystrophy:

  • 70,000 people with MD in the UK
  • 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 congenital MD. 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. From around 7 months old, I ‘bum/belly shuffled’. I started to walk at 19 months old. My parents were very much aware that something wasn’t right, and so they pushed for a specialist referral. My mother was told by her GP that she was an “over-reactive mother”!
  • 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 – only 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 or stairs.

  • 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 and incredibly distressing for both me and my family.
  • I became non-ambulant and started to use a powered wheelchair. 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!).
  • I then stopped wearing the leg splints as I was no longer walking. I could finally wear nice shoes!
  • From around 11 years of age, I began to wake every morning with debilitating headaches and nausea. Many years later, we learnt that 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 physiotherapy 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 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 English Literature.
  • I have a significant ‘S’ shaped scoliosis (curvature of the spine). This became much more severe following the growth of puberty.
  • 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 very 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 or adjust my position in bed.
  • 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 independently go to the loo. 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, 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 lost the ability to walk 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 remain my primary carers, although I also employ several part-time carers/PAs to assist with personal care throughout the week. This is council funded via Direct Payments.
  • 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 hospital inpatient, I’ve 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 regulated. I no longer suffer from CO2 induced headaches or nausea.
  • Medication and treatments: BiPAP machine (NIV), Salbutamol inhaler, antibiotics on repeat prescription to treat chest infections, and I have a Nebuliser with saline and Salbutamol nebules to use when 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 could 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

Doctors, though essential, cannot tell you how it feels to live with UCMD, or what day-to-day life is like. This is why I really appreciate the MD Facebook groups and the MDUK forum. People are free to talk openly with others who understand exactly what they’re going through.

If, as a child, I had known others living with the same condition as me, perhaps my life could have been enhanced with the benefit of shared knowledge.

21 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.

  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.

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