INDIVIDUELLE AVEC LGMD : Andrea

05/21/2015:

 

Nom :  Andrea                 L'âge: 17 yrs. oldLGMD1B - Andrea

Pays: Norway

LGMD Sous-type: LGMD 1B / Laminopathy

À quel âge avez-vous été diagnostiqué ?:

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.

Quels ont été vos premiers symptômes ?:

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

Avez-vous d'autres membres de votre famille atteints de 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.

Quels sont, selon vous, les plus grands défis à relever pour vivre avec le 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.

Quelle est votre plus grande réussite ?:

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

Comment le LGMD vous a-t-il influencé pour que vous deveniez la personne que vous êtes aujourd'hui ?

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

Que voulez-vous que le monde sache sur le 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.

Si votre LGMD pouvait être "guérie" demain, quelle serait la première chose que vous souhaiteriez faire ?:

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