04/30/2016  LGMD "焦点访谈"

 

姓名:  Rebecca    年龄: 29 years old

国家:  Australia

LGMD 子类型:   LGMD2A / Calpainopathy

 

您在几岁时被确诊:

I was diagnosed with LGMD2A when I was 26 years old.

您最初的症状是什么？:

My first symptoms included:  difficult climbing stairs and inclines as well as not being able to rise without using my hands to me up.

您是否有其他家庭成员患有 LGMD：

I am the only one out of 4.

您认为 LGMD 患者在生活中面临的最大挑战是什么？:

The greatest challenge for me is battling fatigue.  It can become really hard to find a balance between doing too much and not doing enough.  I have found that I’m adapting to change basically every year.  It is also a challenge to not be so hard on myself when I see others doing activities which I can’t do.  It can be challenging to ask for help when I cannot fulfill a task on my own.  Pain – I can’t remember the last time that I woke up and felt no pain, discomfort and feeling fragile.

您最大的成就是什么？:

My daughter is 10 years old and she is my greatest accomplishment.  I might not be good at some things in life but I can honestly say I’m the best Mum!  She is my life.  And, as she is growing up, she is starting to look after me in more ways than one.

LGMD 是如何影响您成为今天的自己的？

I might be becoming physically weaker in my body but I have become stronger mentally.

您希望世界了解 LGMD 的哪些方面？:

That is strips away everything that you know.

I also want them to know about Coalition to Cure Calpain 3 – the organization focused on finding a cure and treatment for LGMD2A.

如果您的 LGMD 明天就能 "治愈"，您首先想做的是什么？:

If I was “cured” tomorrow, I would go out with my family with not limits.  I would run around with my daughter and climb 100 stairs.

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