Intervista a riflettori accesi sulla LGMD

Nome:  Sophia

Età:  8

Paese: STATI UNITI D'AMERICA

Sottotipo LGMD: LGMD 2A/R1 legato alla calpaina 3

A che età è stata fatta la diagnosi?

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

Quali sono stati i primi sintomi?

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.

Ha altri familiari affetti da LGMD?

Not that we know of.

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

Qual è il suo più grande risultato?

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.

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

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.

Cosa volete che il mondo sappia della 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 la vostra LGMD potesse essere "curata" domani, quale sarebbe la prima cosa che vorreste fare??

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