05/21/2015:

 

Nome:  Andrea                 Idade: 17 yrs. old

País: Norway

LGMD Sub-tipo: LGMD 1B / Laminopathy

Com que idade foi diagnosticado:

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.

Quais foram os seus primeiros sintomas:

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

Tem outros familiares que sofrem 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.

Quais são, na sua opinião, os maiores desafios de viver com a 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 é a sua maior realização:

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

Como é que a LGMD o influenciou a tornar-se a pessoa que é hoje?

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

O que quer que o mundo saiba sobre a 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 a sua LGMD pudesse ser "curada" amanhã, qual seria a primeira coisa que gostaria de fazer?:

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