名称: Maria 年龄: 29 years old

国家:美国

LGMD 子类型: LGMD 1B

 

您在几岁时被确诊:

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

您最初的症状是什么？:

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.

您是否有其他家庭成员患有 LGMD：

不，我是家族中唯一的 LGMD 患者。

您认为 LGMD 患者在生活中面临的最大挑战是什么？:

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.

您最大的成就是什么？:

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 是如何影响您成为今天的自己的？

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.

您希望世界了解 LGMD 的哪些方面？:

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!

如果您的 LGMD 明天就能 "治愈"，您首先想做的是什么？:

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.