“LGMD SPOTLIGHT INTERVIEW” – 01/18/2016

İsim:  Laurence    Yaş: 49

Ülke: France

LGMD Alt Tipi: LGMD2A / Calpainopathy

 

Kaç yaşında teşhis konuldu?:

I was diagnosed at the age of 42.

İlk belirtileriniz neydi?:

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.

LGMD hastası olan başka aile üyeleriniz var mı?

No, I am the only family member with LGMD2A.

LGMD ile yaşamanın en büyük zorluklarının ne olduğunu düşünüyorsunuz?:

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.

En büyük başarınız nedir?:

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

LGMD bugün olduğunuz kişi olmanızda sizi nasıl etkiledi?

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.

Dünyanın LGMD hakkında ne bilmesini istersiniz?:

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!!!

LGMD hastalığınız yarın "tedavi edilebilseydi", yapmak isteyeceğiniz ilk şey ne olurdu?:

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

Daha fazla "LGMD Spotlight Röportajı" okumak veya gelecek bir röportajda yer almak için gönüllü olmak için lütfen web sitemizi ziyaret edin: https://www.lgmd-info.org/spotlight-interviews