Bärbel (short form of Barbara), is 35 years old and lives in Weinheim, Germany (near Heidelberg). In 1982 she was diagnosed with Myotubular Myopathie. After finishing school in 1995 she worked as an apprentice her parent’s Drogerie (a mixture of pharmacy, photoshop, parfumery and beautycenter). In 2001 she again worked as an apprentice to be a cosmetician and later opened her own beautycenter within her parents shop. Bärbel describes herself as a very creative person; her hobbies include making dolls and teddies, writing short stories for children and her two cats.
What form of CNM/MTM do you have?
When did you first get diagnosed?
When I was diagnosed in 1982 by the age of seven, the doctors had less knowledge about MTM. The only thing they said is, that my muscle fibres were not matured. They said the white muscle fibres (don’t know the word, sorry, is it fast glycotic fibre???) are completely missing. This is why I am a weak person. But I do have perseverance.
My parents do not know very much about MTM and after going from doctor to doctor and making a lot of training we stopped all this in 1985. My parents made a lot of good training with me by going on walking tours. I never worried about MTM because the doctors said, this is so seldom. But since one year I thought, that my muscles get weaker (for example, I have now the same problems in going up stairs like I had when I was a little child). And this is why I looked in internet and I was very surprised to find so much about MTM. I made a appointed time with my doctor and he said that he wanted me to do a new biopsy. Perhaps I will have it in spring 2011. I hope I will get more information by then.
What symptoms prompted your diagnosis?
When I was born, the doctors said, that something was wrong with me. I showed less motion and I had some problems with breathing. Later as a baby and little child I had problems in holding my head and in sitting without a pillow right next too me. They operated my left sinew, because they thought it was too long. But later they said, that this wasn’t necessary because the sinews only were slack because of the muscle-weakness. They plastered my legs for more than one and a half years, and this was not good because my muscles could not be trained by then. As a little child (learned walking by the age of 3) I often fell down very easily had much problems in going up stairs, and had much problems holding my head (for example, when I look in the air, my head is ‘falling’ into my neck and then I do not have balance).
What impact did the diagnosis have on you?
This is difficult to answer because I think it is much easier to be born with a disease than to get it for example by accident. I do not know life without having MTM and I think I can live with it quite good. I’m trying to live a normal live as far as it is possible. But I also arranged my way of living that there is help when I need it. For example I have a flat on my own. But it is in my parents house. I have a little beautycenter (doing treatments and massage for relaxing) but it is involved to my parents shop. So there is much help when I need it for example in all the things, when you need to have strength (for example cleaning with the vacuum cleaner). I have an identity card for being handicapped (degree 80). I can go by train and bus for free and I can take a second person who takes care of me with me for free too (for example cinema, theater, parks). Sometimes I have to wear stockings for compression because by less motion my blood supply is not good. I made my driving licence but only on an automatic car.
Have you explained CNM/MTM to family members and what was their reaction?
All my family members and friends know about it and they help me when I need help. In school all the other pupils helped me (for example in carrying my bag). Today I try to speak about it very openly if someone is asking a question and even my clients know about it. I only know appreciation. Sometimes I thought it is a problem that you cannot see my form of MTM. It often happens that I walk very normally in front of a person and then, by going up stairs there are many problems. And then the people ask me some questions and sometimes this is hard.
What implications do you think it has it had on your family?
I think because of having MTM I have got the best big brother a girl could have. When I was a little child he was very watchful when we were in school and he looked at me during the breaks that nothing will happen to me (like falling down when the other pupils are running).
Has it affected you e.g. telling your children, starting a family, genetic counselling?
Right now I am single but I do not think that is because of having MTM.
Do you have advice for people who are looking for a diagnosis?
Don`t be afraid to have a diagnosis. It is much better to know everything about it, so you can be trained. Don’t stop being in action and train your muscles.
What are your current symptoms?
I have much problems in going up stairs, I cannot hold my head (for example when the car stops suddenly, my head is falling into my neck or when I look into the sky, my head is falling into my neck too and then I lose balance). I have very much problems in standing up from low chairs, I have a low voice, I fall down easily, I am a weak person (for example even having problems in little things like opening a bottle).
What treatment are you having, and have you had?
I do not have any treatment right now. Perhaps I will have another biopsy in 2011. I have had a special gymnastic for increasing my muscles last year, because I had an accident and had a ‘patella luxation’. But this did not help me very much. Since having the accident, my right feet is getting much weaker. I cannot do any sports but I often go for a walk (in my speed). I make some ‘sport’ with the Thera-Band and a big ball to sit on. Last year I bought myself a Wii-station, so I can do the exercises in my living-room by holding myself at a chair and nobody can see it and ask some stupid questions.
How did you find a doctor?
My general doctor is very good and he gave my parents the information. I am living next to Heidelberg and Mannheim, who both have got good University and specialists.
What has been your experience of the healthcare system and healthcare professionals?
The doctors do not know much about MTM. When I had the accident last year, the doctor said, that my muscles have to increase much faster. I explained to him, that this is because of having MTM and he looked very stupid and said, that he never heard about it.
What is your favourite book/film/music?
Book: The Parfum by Patrik Süskind and everything from Thommy Jaud and David Safier. Film: Gloomy Sunday, The Marvellous World of Amelie, Lord of the Rings, Willow. Music: Tori Amos, Blackmore’s Night, Annett Louisan, Muse, Ich+ich, Element of Crime.
What did you want to be when you were younger?
A novelist, especially for books for children I had very much fantasy and I often played that I am a strong and powerful person like Zorro or someone like that when I was a child.
What is a favourite / memorable event from your childhood?
Christmas and holidays with my family. A caravanning tour with my brother in a very old van to France, Swiss and Czchechoslovaky (it was a great adventure). A holiday with school class at the Nordsee by bike. When the other pupils of my class heard, that I could not go with them if they do it by bike, they rented a bike for two persons without me knowing it. It was a great surprise and all the boys in my class wanted to drive it. The driver was sitting in front of me and I had to do nothing!
Who do you think has most influenced you in your life and why?
My brother in music and styling and way of live. As a scout he took me with him on hikes, this was great. My parents in job and my grandmother because she is a strong person who never gives up (she is 90, has got cancer and lots of chemotherapy but she is still happy).
What’s the best advice you have been given?
Try everything. You don’t know if you can do something or not without having tried.