05/21/2015:

 

Name:  Andrea                 Alter: 17 yrs. old

Land: Norway

LGMD Unter-Typ: LGMD 1B / Laminopathy

In welchem Alter wurde bei Ihnen die Diagnose gestellt?:

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.

Was waren Ihre ersten Symptome?:

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

Haben Sie andere Familienmitglieder, die LGMD haben?

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.

Was sind für Sie die größten Herausforderungen im Leben mit 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.

Was ist Ihre größte Errungenschaft?:

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

Wie hat LGMD Sie zu der Person gemacht, die Sie heute sind?

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

Was möchten Sie der Welt über LGMD mitteilen?:

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.

Wenn Ihre LGMD morgen "geheilt" werden könnte, was würden Sie als Erstes tun wollen?:

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