İsim: Maria Yaş: 29 yaşında

Ülke: ABD

LGMD Alt Tipi: LGMD 1B

 

Kaç yaşında teşhis konuldu?:

Initially, I was diagnosed at age two with SMA. I was then re-diagnosed at age 15 with limb-girdle muscular dystrophy.

İlk belirtileriniz neydi?:

My parents said I didn’t walk until 17 months. I also walked with a waddle and was using my arms to help me get up from a sitting position as a toddler.

LGMD hastası olan başka aile üyeleriniz var mı?

Hayır, ailemde LGMD hastası olan tek kişi benim.

LGMD ile yaşamanın en büyük zorluklarının ne olduğunu düşünüyorsunuz?:

Mentally: The assumption that we do not live a normal life is the biggest challenge for me. Physically: Learning to accept the progression when I notice something got weaker.

En büyük başarınız nedir?:

Getting my license and my own car. The process of doing so took a long two years. It felt like there was never an end in sight. Having my car has changed my life and helps me remain independent as possible.

LGMD bugün olduğunuz kişi olmanızda sizi nasıl etkiledi?

It has definitely shaped my personality and who I am. My fierce personality comes from my determination to show others that we are able. My passionate side comes from fighting since day one, even as a child. Growing up with a disability has shaped me into more ways I could imagine. I know that this disease has made me into the Maria that everyone knows.

Dünyanın LGMD hakkında ne bilmesini istersiniz?:

I want people to know that it is considered a rare disease so there is no treatment or cure. Also, I want to shout from the mountain tops that it is not MS!

LGMD hastalığınız yarın "tedavi edilebilseydi", yapmak isteyeceğiniz ilk şey ne olurdu?:

I’d run to pick up my five nieces and nephews. I’d go to the mall and pick out an outfit without having to worry about being to skinny to fit into anything. And then I would probably go putt putt. That’s definitely something I miss that used to be a huge part of my childhood. My dad would take my sisters and I almost every week as kids and so it became one of my favorite things to do.