05/21/2015:

 

Nome:  Andrea                 Età: 17 yrs. old

Paese: Norway

Sottotipo LGMD: LGMD 1B / Laminopathy

A che età è stata fatta la diagnosi:

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.

Quali sono stati i primi sintomi:

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

Avete altri familiari affetti da 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.

Quali sono, secondo lei, le sfide più grandi da affrontare nella convivenza con la 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.

Qual è il suo più grande risultato:

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

In che modo la LGMD l'ha influenzata nel diventare la persona che è oggi:

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

Cosa volete che il mondo sappia della 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.

Se la vostra LGMD potesse essere "curata" domani, quale sarebbe la prima cosa che vorreste fare?:

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