Elly lives in Stockport in the UK with her husband Carl and was recently diagnosed with an unknown form of centronuclear myopathy. She works part time and her main passion in life is animals, wildlife and spending time visiting rescue centres, wildlife parks and zoos.
What form of CNM / MTM do you have?
When did you first get diagnosed?
I was diagnosed with an unknown congenital myopathy about 10 years ago when I was 32, my diagnosis of centronuclear myopathy was a couple of months ago.
What symptoms prompted your diagnosis?
I was born with club feet and was described as a ‘floppy baby’ with poor muscle tone and had to be tube fed. My mum had polyhydramnios (excess fluid) while she was expecting me and noticed that I hadn’t kicked like my older sister had. My feet were fixed with physio and strapping and I eventually started to walk when I was two.
My parents were told to give me a high protein diet to build my strength. When I started school I had to be taken in a pushchair as I still couldn’t walk very far and I was always way behind the other children in PE. I’ve always struggled with stairs and have never been able to do a single sit-up. It was when I went to live away from home as a student that I began having problems walking and suffering with a lot of lower back pain. I suppose before that I’d always been around friends and family who I’d grown up with and they had made allowances for me being a bit slower. As a student I struggled to keep up with my new friends when out socialising. I put my pain and difficulty walking down to a back problem and saw the doctor who referred me to an orthopaedic consultant. I had x-rays which showed I had a slight scoliosis and I thought this was the cause of my problems.
Throughout my twenties I saw various consultants including a heart specialist, but no one could find anything wrong with me. One consultant suggested that I probably needed to exercise more to build strength. I took his advice and joined a gym which I went to two or three times a week. After going to the gym for two years, I had hardly made any progress – apart from my forearms which don’t seem affected. When I was about thirty, I was referred to a new orthopaedic consultant. I explained that no matter how much I exercised, I didn’t get any stronger. He thought my legs seemed weak and I may have a neurological problem. Several years ago I had an appointment at the Newcastle Muscle Centre, here it was noticed that I have a high arched palette, spinal rigidity and finger contractures which are consistent with some myopathies.
How were you diagnosed?
I had an MRI scan which showed my nerves were healthy, so was sent for an EMG test where I had needles inserted into my muscles to measure electrical activity. The EMG was abnormal, so I was sent for a muscle biopsy from my shin. Last year I had a second biopsy from my thigh where a much bigger sample was taken, as the sample from my shin had been quite poor. The second biopsy was prompted after I’d had an MRI scan of my muscles. The MRI was to see if a diagnosis could be reached by looking at which groups of muscles were affected, Pompe disease was suggested but ruled out with a blood test. I’d heard of someone who had got a diagnosis after using MRI scan results to pick a good site for a biopsy, so I asked my neurologist if he could do this.
How long did it take to get you diagnosis?
I was diagnosed with a congenital myopathy about six months after my first biopsy, and it was after six months again when the second biopsy showed that the nuclei was in the centre of my muscle cells.
What impact did the diagnosis have on you?
It was actually a huge relief. I could finally explain why I struggled physically, and I no longer had to use the excuse of a ‘bad back’ when I couldn’t do something.
Have you explained CNM/MTM to family members and what was their reaction?
Not yet, I did explain about myopathy when I was first diagnosed, but I’m still getting my head around centronuclear myopathy myself. I have an appointment at a rare disease clinic at the Newcastle Muscle Centre in a couple of months, hopefully they’ll be able to tell me which type I have and how it’s inherited. I’ll probably explain CNM to my family when I know more. I’m the only member of my family with CNM, so I guess I’ve most likely got the recessive form.
Do you have advice for people who are looking for a diagnosis?
Keep at it and don’t be afraid to ask for tests. I kept going back to my GP saying something really wasn’t right when all tests were coming back negative. I requested my second biopsy although my neurologist didn’t seem keen.
What are your current symptoms?
Muscle weakness, mainly in my legs, torso, upper arms and neck. I also have mild weakness in my face. I have a lumbar lordosis and get a lot of lower back pain. I often feel fatigued and sometimes get a bit breathless – especially in hot weather.
What treatments are you having or have you had?
I’ve had a lot of physio over the years, but it was always a fixed number of sessions and any benefit was soon lost after the sessions ended. I’m now going to the Neuromuscular Centre (NMC) in Cheshire for physio once a month. I also go swimming.
How did you find a doctor?
The neurologist at my local hospital referred me to a neuromuscular specialist when my EMG results were abnormal.
What has been your experience of the healthcare system and healthcare professionals?
Mixed, I had a lovely GP and although he didn’t know what was wrong with me, took an interest and made referrals. He retired a few years ago and I couldn’t get along with his replacement. I changed surgeries, and fortunately found another good GP. I find it frustrating that none of the healthcare professionals I saw for the first thirty years of my life picked up my neuromuscular condition.
Has your diagnosis had any health insurance implications for you?
Not health insurance, but I had trouble getting life cover on my mortgage – mainly because I was waiting for biopsy results at the time. I also have problems with the DVLA as they’ll only issue me a three year restricted licence. The process always takes ages because they can’t categorise my condition, they have even made me retake my driving test.
What advice would you give to someone who has just been diagnosed with CNM / MTM?
Try to be positive and live life to the full.
What’s your favourite book / film / music?
I don’t really have a favourite book but I like reading biographies and factual books by people who inspire me such as Jane Goodall, I think her work with chimpanzees is amazing. My music tastes are mostly 70s and 80s punk and ska with a bit of pop.
What did you want to be when you were younger?
Something creative, I studied art and jewellery design, but have ended up working for a small electronics company, doing purchasing, logistics and admin.
What is a favourite / memorable event from your childhood?
Probably going to a static caravan we had in North Wales every summer.
Who do you think has most influenced you in your life and why?
What person would you most to meet (living or dead)
Chris Packham – naturalist, broadcaster and photographer.
What’s the best advice you’ve been given?
My mum always says “suit the wearer, blow the starer” meaning wear whatever you like as long as you’re happy and comfortable. I used to insist on trying to wear high heeled shoes if I was going to a party or wedding because I thought I should, even though I could barely walk in them. I wish I’d taken that advice on board a lot sooner – nothing but flats and trainers for me now.