“LGMD SPOTLIGHT INTERVIEW” – 01/18/2016

名称:  Laurence    年龄: 49

国家: France

LGMD 子类型: LGMD2A / Calpainopathy

 

您在几岁时被确诊:

I was diagnosed at the age of 42.

您最初的症状是什么？:

The symptoms that I experienced included:  great fatigue,  difficulties climbing stairs, falling when walking on an uneven ground, and difficulty rising from a seated position.

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 evolution is rather slow but l must be quite careful to have a regular life otherwise it is worse and the evolution is then quicker when I’m tired and the atrophy is stronger.  It’s hard to conciliate it with private or professional activities.

您最大的成就是什么？:

I try to keep working which is important not to think too much about the disease and keep going.

LGMD 是如何影响您成为今天的自己的？

In fighting against pains and physical difficulties, the disease teaches me how to prioritize but also to be conscious that there are always  people who are more ill than yourself so that you must be optimistic.

您希望世界了解 LGMD 的哪些方面？:

I want the world to know that LGMD is part of the orphan diseases therefore it is difficult to raise funds necessary to find an efficient treatment.  Itt is important to talk about LGMD  around us but most of all to the medical community and to general practitioners who can help their patients to go to appropriate medical centers. I have a very personal example to illustrate this point —  before being diagnosed, my GP told me that my symptoms were due to a nervous breakdown!!!

如果您的 LGMD 明天就能 "治愈"，您首先想做的是什么？:

I would like to walk naturally without a stick and visit the whole world, be able to go abroad with my family, feeling free!

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。