이름: Maria 나이: 29 years old

국가: 미국

LGMD 하위 유형: LGMD 1B

 

몇 살에 진단받으셨나요?:

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

첫 증상은 무엇이었나요?:

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.

다른 가족 중에 LGMD를 앓고 있는 사람이 있나요?

No, I am the only person in my family with LGMD.

LGMD와 함께 생활하면서 가장 어려운 점은 무엇인가요?:

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.

가장 큰 성과는 무엇인가요?:

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.

LGMD가 지금의 자신을 만드는 데 어떤 영향을 미쳤나요?

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.

LGMD에 대해 전 세계에 알리고 싶은 내용:

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!

내일 LGMD가 "완치"될 수 있다면 가장 먼저 하고 싶은 일은 무엇인가요?:

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.