名称: Maria 年齢29歳

国名:アメリカ

LGMDサブタイプ: LGMD 1B

 

何歳で診断を受けたか:

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

最初の症状は？:

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.

ご家族にLGMDの方はいらっしゃいますか？

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

LGMDと共に生きていく上で、最も困難だと感じることは何ですか？:

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.

あなたの最大の功績は何ですか？:

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は今のあなたにどのような影響を与えていますか？

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.

LGMDについて世界に知ってもらいたいことは？:

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!

もし明日、あなたのLGMDが "治る "としたら、まず何をしたいですか？:

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.