“LGMD SPOTLIGHT INTERVIEW” – 01/18/2016

名称:  Laurence    年齢: 49

国名: France

LGMDサブタイプ: LGMD2A / Calpainopathy

 

何歳で診断を受けたか:

I was diagnosed at the age of 42.

最初の症状は？:

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.

ご家族にLGMDの方はいらっしゃいますか？

No, I am the only family member with LGMD2A.

LGMDと共に生きていく上で、最も困難だと感じることは何ですか？:

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.

あなたの最大の功績は何ですか？:

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

LGMDは今のあなたにどのような影響を与えていますか？

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.

LGMDについて世界に知ってもらいたいことは？:

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!!!

もし明日、あなたのLGMDが "治る "としたら、まず何をしたいですか？:

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

LGMDスポットライト・インタビュー」をもっと読みたい方、または今後のインタビューに志願したい方は、ウェブサイトhttps://www.lgmd-info.org/spotlight-interviews。