What form of CNM/MTM do you have?
I have been diagnosed with the recessive form of CNM/MTM.
When did you first get diagnosed?
I was 11 years old (1992) when they finally were able to put a name to my disability.
What symptoms prompted your diagnosis?
General skeletal weakness, unable to walk very far, run, walk up steps, get up from the floor, get up from a chair and not the best balance either.
How long did it take to get you diagnosis?
It took 10 years for the diagnosis.
How were you diagnosed?
I had very many muscle biopsies and also blood tests.
What impact did the diagnosis have on you?
It was wonderful to have a name for the condition, but unfortunately at that time we could not find out much about the condition.
Have you explained CNM/MTM to family members and what was their reaction?
As I was only a child myself and all my family could see that I was a lot weaker than all my siblings, cousins etc they were also quite relieved to have a name for the condition.
What implications do you think it has it had on your family?
The big implication that the diagnosis had on my family was that as there was no family history of this condition anywhere, my parents had to go and have muscle biopsies which as we all know isn’t the best experience, which also did not shed any light on where the condition stemmed from as neither one of my parents’ results showed that they where carriers of the condition so it is quite a mystery to know where I have had this condition from.
Has it affected you e.g. telling your children, starting a family, genetic counselling?
It is quite a difficult condition to explain to people, it has affected me with the reactions of people to the condition, I have lost count of the times people have thought that I was drunk! At the present moment it is affecting me quite a great deal more than it ever has as I would like to become a mother and my husband would love to be a father but we are in limbo at the moment to what to do.
Do you have advice for people who are looking for a diagnosis?
Keep positive there will be answers for you.
What are your current symptoms?
My current symptoms are similar to what they have always been, weakness of the skeletal system, which generally means that I am unable to walk for long periods of time, unable to run, walk up steps, quite unsteady on my feet especially when the ground is uneven.
What treatment are you having and have you had?
I have never had a great deal of treatment, the most I have had was a few weeks of intensive physiotherapy. But I do make sure that I keep fit, I will try and do at least 1/2 hour of exercise every other day. The exercise mostly consists of stretching and going on my stepper machine to try and strengthen my leg muscles.
How did you find a doctor?
Was referred to a specialist when I was a child, and once I was considered an adult was sent to an adult Muscular Consultant who specialises in all kinds of muscular skeletal problems.
What has been your experience of the healthcare system and healthcare professionals?
When I was a child I did get to see all the best consultants but unfortunately once I was considered an adult I haven’t had the best experience.
Has your diagnosis had any health insurance implications for you?
No not really.
What advice would you give to someone who has just been diagnosed with CNM/MTM?
It might seem a bleak place now, but life is what you make it, listen to your body and it will tell you how far to push it. I have always thought of having cnm / mtm as a bit of a challenge for me and have given myself goals to achieve in life, yes it is always 10 times as hard and a million times more frustrating but I have achieved everything I have wanted to do, I have a good job a lovely home and a wonderful loving husband and a very loving and supportive family. Keep your head held high and don’t let the frustrations of everyday life get to you, let cnm / mtm make you a stronger person as it has made me.
What’s your favourite book/film/music?
I absolutely love pop music, my favourite film is at the moment ‘Marley and Me’, my favourite book at the moment is ‘Faceless’ by Martina Cole.
What did you want to be when you were younger?
I wanted to be a hairdresser when I was younger.
What is a favourite/memorable event from your childhood?
Playing in the garden with all my siblings and cousins on a sunny day having fun in and out of the paddling pool.
Who do you think has most influenced you in your life and why?
My parents have had the most influence on my life as they have always made sure that I am realistic about my capabilities, they haven’t wrapped me up in cotton wool. They have supported me in everything that I have done, and as a result I think that has made me a very contented and positive person.
What’s the best advice you’ve been given?
The old cliché ‘make the most of life’, ‘do what you want to do and don’t let anyone hold you back’.