09/08/2015

 

名称:    Shelley    AGE:  50

国家:    Canada

LGMD 子类型:    LGMD2A / Calpainopathy

您在几岁时被确诊:

我在 11 岁时被确诊。

您最初的症状是什么？:

My first symptoms included walking on my tippy toes and difficulty climbing stairs.

您是否有其他家庭成员患有 LGMD：

Yes, all of my siblings are affected.  My sister Michele and brother John both have LGMD2A.

您认为 LGMD 患者在生活中面临的最大挑战是什么？:

One of the greatest challenges in my twenties was being physically weaker and unable to have children, childbirth and carrying the child.

It has also been challenging to find meaningful employment despite having a university and college degree.  Employers and employees refusing to understand the needs of having a disability has also been a challenge.

您最大的成就是什么？:

One of my greatest accomplishments has been writing my memoir about living with LGMD and helping others overcome their diversities.  Graduating from the university was also an accomplishment.

LGMD 是如何影响您成为今天的自己的？

I don’t take the things that I can do for granted.  I use my disability to educate others through my memoir and inspirational speaking.

您希望世界了解 LGMD 的哪些方面？:

LGMD robs individuals of the strength in their voluntary muscles but does not affect their intellect.   Having a physical disability can be very frustrating, however being judged by others because of a disability can be far worse.

如果您的 LGMD 明天就能 "治愈"，您首先想做的是什么？:

I would put on a pair of figure skates and skate for hours.  When I was diagnosed 39 years ago, I had my heel cord tendons elongated (due to the development of contractures) and could no longer skate.  It broke my heart!

如需阅读更多 "LGMD 焦点访谈"，或自愿参加即将举行的访谈，请访问我们的网站： https://www.lgmd-info.org/spotlight-interviews