LGMD "Entrevista em destaque"

Nome:  Sophia

Idade:  8

País: EUA

LGMD Sub-tipo: LGMD 2A/R1 relacionado com a calpaína 3

Com que idade foi diagnosticado?

I was officially diagnosed at age 6 from genetic blood testing.

Quais foram os seus primeiros sintomas?

I had pneumonia when I was 4.5 and my mom brought me for blood work because I was sick for a long time. My liver enzyme levels were very high so the doctors started to look for a reason why. I also started walking on my toes. I was in and out of lots of hospitals and misdiagnosed for 1.5 years. It was scary but I was very brave.

Tem outros familiares que sofrem de LGMD?

Not that we know of.

Quais são, na sua opinião, os maiores desafios de viver com a LGMD??

My biggest challenges are having to walk far, my legs get very tired and seeing kids do things while playing that I know will make my legs and arms tired. I used to be able to do monkey bars too. That makes me feel sad. My family always finds ways to help me do things, but it’s still hard watching other kids my age run and play and not get tired fast like me.

Quais são as suas maiores realizações?

I spoke to my 3^rd grade class in my new school about my LGMD2A even though I was really scared. I help to spread awareness so other kids don’t have to go through so much to get diagnosed and to help find us a cure. I can do circus camp and back bends even though I have muscular dystrophy. I don’t let it stop me from trying new things even when I know it will be hard. I also learned how to ride an electric bike so I can play with my friends.

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

It made me very brave. I face my fears of falling down in front of people and hospital visits and that makes me strong. I don’t see people’s disabilities or stare, I see them. I also am learning to accept myself just as I am.

O que quer que o mundo saiba sobre a LGMD?

You can have a very happy life and parents need to know kids like me are happy even with muscular dystrophy challenges. Even though I have it, I find my ways of getting around and use my wheelchair when I need it.  It’s not always easy and can be scary when your body doesn’t work how you want it to. I want the world to know kids like me are waiting for a cure.

Se a sua LGMD pudesse ser "curada" amanhã, qual seria a primeira coisa que gostaria de fazer??

I would want to run really fast and far, ride a regular bike, do monkey bars and lots of gymnastics.