“LGMD SPOTLIGHT INTERVIEW” – 01/18/2016

이름:  Laurence    나이: 49

국가: France

LGMD 하위 유형: LGMD2A / Calpainopathy

 

몇 살에 진단받으셨나요?:

I was diagnosed at the age of 42.

첫 증상은 무엇이었나요?:

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.

다른 가족 중에 LGMD를 앓고 있는 사람이 있나요?

No, I am the only family member with LGMD2A.

LGMD와 함께 생활하면서 가장 어려운 점은 무엇인가요?:

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.

가장 큰 성과는 무엇인가요?:

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

LGMD가 지금의 자신을 만드는 데 어떤 영향을 미쳤나요?

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.

LGMD에 대해 전 세계에 알리고 싶은 내용:

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!!!

내일 LGMD가 "완치"될 수 있다면 가장 먼저 하고 싶은 일은 무엇인가요?:

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

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