11/06/2015

姓名:  Siri  年龄:  28 yrs. old

国家:  Norway

LGMD 子类型: LGMD2A / Calpainopathy

 

您在几岁时被确诊:

I was diagnosed when I was 26 yrs. old.

您最初的症状是什么？:

I started experience unexplained fatigue at age 16. When I was 19, I noticed that I had trouble putting my

right arm over my head. In my early 20’s my heel cords started to bug me, being super tight. A few years

later I started struggling with stairs and low seats and I could no longer run or jump.

您是否有其他家庭成员患有 LGMD：

No, I am the only family member with LGMD2A.

您认为 LGMD 患者在生活中面临的最大挑战是什么？:

The everyday tasks people take for granted makes me really frustrated some days. Like getting out of a

chair, turning in bed or tying my shoes – all these little things make me tired and I don’t like wasting

energy on it. But the real struggle is all the extra work it is to have a disability. People don’t see all the

hours I spend doing paperwork getting the things I need and figuring out my rights, physiotherapy, doctor appointments and so on, or all the time I “waste” resting because I have overdone it one day. It is also a challenge to be dependent on other people.

您最大的成就是什么？:

I completed 6 years in university and got my degree as a teacher. I have also visited many different

countries and hiked in various mountains despite my struggles.

LGMD 是如何影响您成为今天的自己的？

It has taught me not to take anything for granted. It has made me more humble and thankful for all the little things in life. It has taught me to slow down and be more patient and to dare ask for help with small tasks.  And to enjoy every day! It has also made me be more creative, because I have to find new ways to do things. And I have made SO many new friends! I love that.

您希望世界了解 LGMD 的哪些方面？:

That it actually exists is a good start! And that it affects people in different ways, but to most of us it is

super frustrating/depressing to lose abilities over time. We are always dealing with this, since it is a

progressive disease. It’s an ongoing grief. And that it affects our loved ones too. Be kind, always.

如果您的 LGMD 明天就能 "治愈"，您首先想做的是什么？:

I would RUN! And jump all over the place. And I would dance all night long! And I would help my friends move or something, haha 😉

 

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