Marie lives in Ireland with her husband John and the couple have lost three sons to MTM. Nathan was born in 2000 and lived for 16 days, Sean was born in 2004 and lived for 31 days and Alex was born on Christmas day 2008, living for just 20 minutes. Marie is diagnosed as an x-linked manifesting carrier.
What form of CNM/MTM do you have?
I have x-linked MTM.
When did you first get diagnosed?
I was diagnosed in 2003.
What symptoms prompted your diagnosis?
I had my first son Nathan in 2000 and it was actually my eye doctor who suggested I get tested as I had a lazy eye.
How long did it take to get you diagnosis?
Not too long, I had it within a week.
How were you diagnosed e.g. muscle biopsy?
What impact did the diagnosis have on you?
Not too much but I learned that I was not lazy at sport and walking stairs as everyone including myself had thought.
Have you explained CNM/MTM to family members and what was their reaction?
I think people knew it before I had got my results so they were fine. I was a bit bothered myself by it at first but then I was fine.
What implications do you think it has it had on your family?
My own form of MTM has had no major implications, the fact I have passed it on to my three sons is the only problem I had with it.
Has it affected you e.g. telling your children, starting a family, genetic counselling?
I have had three sons who have passed away from MTM and planned on trying IVF for one more child in the hope they would not carry this gene but found out in September 2010 we are expecting again naturally in April 2011.
What are your current symptoms?
Problems with stairs and getting up off couches and chairs.
What treatment are you having or have you had?
I had occupational therapy a few years ago that was it.
How did you find a doctor?
To be honest apart from my genetic counsellor I have not found anyone who understands it that well over here in Ireland.
What has been your experience of the healthcare system and healthcare professionals?
As good as they can be with very little knowledge.
Has your diagnosis had any health insurance implications for you?
What advice would you give to someone who has just been diagnosed with CNM/MTM or is looking for a diagnosis?
Get as much background information as you can and find others always willing to to talk to you about it.
What’s your favourite book/film/music?
Book: Twilight books. Film: The Departed. Music: Anything.
What did you want to be when you were younger?
In the navy.
What is a favourite/memorable event from your childhood?
My school days and my set dinners from my granny every day she’s the best in the world.
Who do you think has most influenced you in your life and why?
My husband, it might sound corny but he is my life and I can’t imagine having gone through what we did with anyone else but him he is my rock.
What’s the best advice you’ve been given?
Live for today.