What form of CNM/MTM do you have?
When did you first get diagnosed?
When I was twelve, I was first told I had muscular dystrophy in 1957 in Children’s Hospital Belfast. My GP told my parents I would grow out of it.
What symptoms prompted your diagnosis?
Weakness, always falling and not able to get up.
How long did it take to get your diagnosis?
Nothing more happened until I was forty and I decided to learn to drive and got in touch with MDA who arranged for me to see Dr Victor Patterson at the Muscle Clinic in Belfast City Hospital who had a biopsy done and diagnosed myotubular myopathy.
How were you diagnosed?
What impact did the diagnosis have on you?
Relief, at last there was a name.
Have you explained CNM/MTM to family members and what was their reaction?
None, they knew there was no cure.
What implications do you think it has it had on your family?
I suppose at the back of their mind they hoped the doctors could do something and find a cure.
Has it affected you e.g. telling your children, starting a family, genetic counselling?
Yes, very much, particularly the lack of information in my young days when I read in MDA magazine in 1964 that no-one lived beyond their teens – I am now sixty five.
Do you have advice for people who are looking for a diagnosis?
Keep asking questions and always get diagnosis confirmed twice.
What are your current symptoms?
Although still able to walk a little with the aid of a stick, I feel my muscles are getting weaker, have slight high blood pressure and pain in the joints, I am still working in a office and still drive my car with lightened power steering and power brakes etc.
What treatment are you having, and have you had?
8mm of salbutomol daily and water tablet for blood pressure. I find that salbutomol gives me more energy especially helps more oxygen to legs.
How did you find a doctor?
Through Family Care Officer at muscular dystrophy association.
What has been your experience of the healthcare system and healthcare professionals?
With the exception of the Muscle Clinic which I attend yearly, complete indifference. GP’s and hospital doctors, physios and nurses are not familiar with my condition, so when I broke my leg and had to have a pin put in, I had to educate the surgeons and nurses how to handle me, but the doctor from the muscle clinic was fantastic.
Has your diagnosis had any health insurance implications for you?
Could not get life-cover.
What advice would you give to someone who has just been diagnosed with CNM / MTM?
It is not the end of the world; children are living a lot longer nowadays and there is a lot of research going on. Keep in touch with other families and MDA and this website.
What’s your favourite book/film/ music?
Films: Shane and The Quiet Man (John Wyane and Maureen O’Hara) Music: Folk and light classical.
What did you want to be when you were younger?
What is a favourite/memorable event from your childhood?
Meeting JFK and Princess Grace in Ireland in 1963.
Who do you think has most influenced you in your life and why?
My parents, who didn’t treat me any different and although times were hard, did everything possible to help me be strong and take on the world with the motto ‘I can and I will’.
What’s the best advice you’ve been given?
Accept your limitations but reach for the stars. Don’t be too proud to ask for help and best of all have faith in your God.