05/21/2015:

 

名前  Andrea                 年齢: 17 yrs. old

国名: Norway

LGMDサブタイプ: LGMD 1B / Laminopathy

何歳で診断を受けたか:

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.

最初の症状は？:

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

ご家族にLGMDの方はいらっしゃいますか？

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と共に生きていく上で、最も困難だと感じることは何ですか？:

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.

あなたの最大の功績は何ですか？:

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

LGMDは今のあなたにどのような影響を与えていますか？

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

LGMDについて世界に知ってもらいたいことは？:

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.

もし明日、あなたのLGMDが "治る "としたら、まず何をしたいですか？:

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