05/21/2015:

 

Имя:  Andrea                 Возраст: 17 yrs. old

Страна: Norway

LGMD Подтип: LGMD 1B / Laminopathy

В каком возрасте вам был поставлен диагноз:

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.

Каковы были ваши первые симптомы:

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

Есть ли у вас другие члены семьи, страдающие LGMD:

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.

Что, по вашему мнению, является наибольшей проблемой в жизни с LGMD:

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.

Какое ваше самое большое достижение:

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

Как LGMD повлиял на то, что вы стали тем человеком, которым являетесь сегодня:

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

Что вы хотите, чтобы мир узнал о LGMD:

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.

Если бы ваш LGMD можно было "вылечить" завтра, что бы вы хотели сделать в первую очередь:

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