“LGMD SPOTLIGHT INTERVIEW” – 01/18/2016

Nom:  Laurence    L'âge: 49

Pays: France

LGMD Sous-type: LGMD2A / Calpaïnopathie

 

À quel âge avez-vous été diagnostiqué ?:

I was diagnosed at the age of 42.

Quels ont été vos premiers symptômes ?:

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.

Avez-vous d'autres membres de votre famille atteints de LGMD ?

No, I am the only family member with LGMD2A.

Quels sont, selon vous, les plus grands défis à relever pour vivre avec le 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.

Quelle est votre plus grande réussite ?:

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

Comment le LGMD vous a-t-il influencé pour que vous deveniez la personne que vous êtes aujourd'hui ?

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.

Que voulez-vous que le monde sache sur le 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!!!

Si votre LGMD pouvait être "guérie" demain, quelle serait la première chose que vous souhaiteriez faire ?:

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

Pour lire d'autres "LGMD Spotlight Interviews" ou pour vous porter volontaire pour une prochaine interview, veuillez consulter notre site web à l'adresse suivante : https://www.lgmd-info.org/spotlight-interviews.