Nom: Maria L'âge: 29 ans

Pays: ÉTATS-UNIS

LGMD Sous-type: LGMD 1B

 

À quel âge avez-vous été diagnostiqué ?:

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

Quels ont été vos premiers symptômes ?:

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.

Avez-vous d'autres membres de votre famille atteints de LGMD ?

Non, je suis la seule personne de ma famille à être atteinte de LGMD.

Quels sont, selon vous, les plus grands défis à relever pour vivre avec le LGMD ?:

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.

Quelle est votre plus grande réussite ?:

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.

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

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.

Que voulez-vous que le monde sache sur le LGMD ?:

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!

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

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.