“LGMD SPOTLIGHT INTERVIEW” – 01/18/2016

Имя:  Laurence    Возраст: 49

Страна: France

LGMD Подтип: LGMD2A / Calpainopathy

 

В каком возрасте вам был поставлен диагноз:

I was diagnosed at the age of 42.

Каковы были ваши первые симптомы:

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.

Есть ли у вас другие члены семьи, страдающие LGMD:

No, I am the only family member with LGMD2A.

Что, по вашему мнению, является наибольшей проблемой в жизни с LGMD:

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.

Какое ваше самое большое достижение:

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

Как LGMD повлиял на то, что вы стали тем человеком, которым являетесь сегодня:

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.

Что вы хотите, чтобы мир узнал о LGMD:

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!!!

Если бы ваш LGMD можно было "вылечить" завтра, что бы вы хотели сделать в первую очередь:

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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