05/21/2015:

 

İsim:  Andrea                 Yaş: 17 yrs. old

Ülke: Norway

LGMD Alt Tipi: LGMD 1B / Laminopathy

Kaç yaşında teşhis konuldu?:

I was about 6 months old when they discovered that something was wrong, but it wasn’t until I was about 2 years old that they decided it was muscle dystrophy. I have probably had the disease my whole life. I was 7 years old when I got the diagnosis LGMD 1B.

İlk belirtileriniz neydi?:

I couldn’t hold my head up when I started sitting on my own.

LGMD hastası olan başka aile üyeleriniz var mı?

No, I am the only one with LGMD in my family. Both my parents have been tested and the results showed that I didn’t inherit it, it was from a mutation.

LGMD ile yaşamanın en büyük zorluklarının ne olduğunu düşünüyorsunuz?:

The greatest challenges are that I can’t do anything on my own. I need help with practically everything, like getting dressed, getting in and out of bed, and picking up stuff.

En büyük başarınız nedir?:

My greatest accomplishment is my mind. How I have a positive look on everything.

LGMD bugün olduğunuz kişi olmanızda sizi nasıl etkiledi?

It has made me appreciate the small pleasures and made me a very positive person.

Dünyanın LGMD hakkında ne bilmesini istersiniz?:

I want the world to know that I am not chained to my wheelchair, the wheelchair is the most helpful aid I have. Without it I would be chained, it is my freedom. When some people see me they only see the wheelchair, the noise around me, and not me. The disease only affects my muscles and not my brain, I am a normal 17-year-old girl.

LGMD hastalığınız yarın "tedavi edilebilseydi", yapmak isteyeceğiniz ilk şey ne olurdu?:

I would jump, run up and down the stairs, pick up things, do all the normal things I never have been able to do!