I have autosomal dominant form of centronuclear myopathy which is caused by the DNM2 gene.
When did you first get diagnosed?
I was diagnosed in 1998 after my daughter Toni was diagnosed with centronuclear myopathy. Previously, I had been diagnosed with a form of muscular dystrophy but on seeing Toni’s muscle biopsy result, doctors concluded that I must have centronuclear myopathy also. They now think my mother may have had centronuclear myopathy also, although this was never tested for – she went undiagnosed in her lifetime, dieing aged 81.
What symptoms prompted your diagnosis?
Trouble walking, difficulty climbing stairs and ladders, on the positive side I can still drive my Motability car.
How long did it take to get your diagnosis?
It took around 9 years; I first began to have problems around 1989 and was referred to a hospital in 1993, however I did not have a muscle biopsy until 1997 – a diagnosis of muscular dystrophy followed. Had Toni not been diagnosed with centronuclear myopathy, my own diagnosis would most probably have taken longer or may not have been forthcoming for some time.
What impact did the diagnosis have on you?
It was worrying and stressful as I did not know how fast to expect the condition to progress. A couple of years after my diagnosis I took redundancy because I felt I could no longer cope with tasks at work such as steps, stairs, running and lifting. However, I try to remain positive and although I was told there was no way of knowing what the the future held, since my diagnosis I have flown in vintage aircraft, sat in Alpine snow at 11,000 feet, traveled to Canada, Norway, Italy, Austria, Germany, Slovenia (yes I do love wild mountains) – credits are due to Di my ‘minder’/wife.
Have you explained CNM/MTM to family members and what was their reaction?
Yes, in the beginning – they were also worried and concerned about what the diagnosis would mean in the future.
Do you have advice for people who are looking for a diagnosis?
Be stubborn and make sure you get one as it helps mentally to come to terms with what is wrong. Also, without a definite diagnosis you can’t get help in terms of support from an employer or the state benefits you may be entitled to.
What are your current symptoms?
General weakness, trouble with stairs, walking and getting out of chairs.
What treatment are you having, and have you had?
Hydrotherapy and physiotherapy.
How did you find a doctor?
Referred from my local hospital to see a specialist.
What has been your experience of the healthcare system and healthcare professionals?
Both good and bad; in many cases they are lacking in knowledge of muscle diseases. They haven’t heard of muscular dystrophy let alone centronuclear myopathy. A number of years ago one GP actually asked me when I was going to get better.
I am fortunate that I live a half hour drive from the Neuromuscular Centre in Winsford, a specialist centre which treats people with muscle disease but it is currently the only centre in the UK. If the centre were not on my doorstep, there would be no specialist treatment available to me.
Has your diagnosis had any health insurance implications for you?
Higher premiums for holiday insurance – I would always recommend checking around and not taking the first price offered.
What advice would you give to someone who has just been diagnosed with CNM/MTM?
Nelson Mandela said ‘Do not judge me by my successes, judge me by how many times I fell down and got back up again’. Educate yourself and find out as much as you can about your condition so that you can advocate for yourself. Try to join a community or support group and do your best to remain positive, if you really want to do something, there are ways to get around most problems.
What is your favourite book, music, film or other hobby?
I very much enjoyed the Shogan novels by James Clavell. I am not big on films but enjoy a range of music including classical, country, folk and pop – I enjoy going to concerts and am looking forward to seeing Brian May (Queen guitarist) and Kerry Ellis (West End and Broadway star of Wicked, We Will Rock You and Oliver) perform together later this year.
I am a licensed radio amateur, having passed the City and Guilds radio amateur exam in 1983. I use the callsign G1CZU in most of Northern Europe and Canada and have been involved with the local scouts Jamboree on the Air event for 27 years now.
Over the last 15 years a good friend and I have spent a lot of time building, repairing, recycling and donating computers; approximately 400 computers have been worked on for OAP’s, school children, university students, families who could not afford to buy new machines and charities, family and friends.
What did you want to be when you were younger?
I would have liked to work with aircraft – I used to spend a lot of time at airfields watching aircraft when I was younger and was a member of The London Gliding Club in Dunstable. In my late teens I became an airport fire security officer, which was the starting point for 35 years as a fire / security officer protecting people, fine arts, power stations and research facilities. The roles were very active and often involved climbing vertical ladders of 90 – 100 feet.
What is a favourite/memorable event from your life?
My earliest memory is aged 3/4 years old sitting on the tailboard of a removal lorry with our wirehaired fox terrier, moving from a city side street house in Northampton to a bungalow in the Northamptonshire countryside, two miles from the nearest small town with open country side front and back. Aged 16, I experienced my first trip out of UK to Germany, travelling 2,000 miles all around the country including the Black Forest. More recently, I parascended over The Gulf of Mexico and flew in a 50+ year old DHC2 Beaver float plane over the coast of Vancouver Island, British Columbia, Canada.
What is the best advice you have ever been given?
I like the following wise words from the Dalai Lama and Mahatma Ghandi ‘With realization of one’s own potential and self-confidence in one’s ability, one can build a better world’ and ‘You must not lose faith in humanity. Humanity is an ocean; if a few drops of the ocean are dirty, the ocean does not become dirty’.