What form of CNM/MTM do you have?
When did you first get diagnosed?
What symptoms prompted your diagnosis?
How long did it take to get your diagnosis?
About 6 years.
How were you diagnosed?
What impact did the diagnosis have on you?
Weakness, tired, I’m using a wheelchair.
Have you explained CNM/MTM to family members and what was their reaction?
Yes and my father, his cousin and sister and my cousin is also sick. It’s very hard and tough for the family but I can always talk to my father and I know that he knows how I feel. We are very close, and we have come closer because of the disorder.
What implications do you think it has it had on your family?
We have become closer.
Has it affected you e.g. telling your children, starting a family, genetic counselling?
Yes it’s harder for me to meet somebody since I got sick, I really want children and I know I can do Preimplantation Genetic Diagnosis. I’m very happy for that.
Do you have advice for people who are looking for a diagnosis?
Don’t give up!!!
What are your current symptoms?
Pain in muscles, joints and nerve pain. Very weak. I use a wheelchair, tired, I can walk indoors a couple of steps, I fall very easily. Tired in my eyes.
What treatment are you having, and have you had?
Not much, pain killers. I’ve been in Tenerife at Vintersol on rehabilitation and I’m going to start some water training.
How did you find a doctor?
My father got the diagnosis before me so I went to the same doctor as he.
What has been your experience of the healthcare system and healthcare professionals?
Both good and bad, I was wrongly diagnosed for four years and I took very strong medicine because they thought I had SLE. When I got the right diagnosis I started seeing a whole team at Neuromuskulärt Centrum in Gothenburg Sweden but we have only one doctor for 900 patients because of money problems.
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?
Don’t give up, I know its a tragedy but live is still full of opportunities.
What did you want to be when you were younger?
Singer and a dancer. Musical artist.
What is a favourite/memorable event from your childhood?
One is when I was in the ballet when I was 12 and I was dancing in a big opera. And when I ran 2.5 km in 8.09 minutes in a competition and won the race.
Who do you think has most influenced you in your life and why?
My grandmother and my mom. The are two very strong women. Because they always
believed in me, and told me I could do anything.