“LGMD SPOTLIGHT INTERVIEW” – 01/18/2016

Nombre:  Laurence    Edad: 49

País: France

Subtipo LGMD: LGMD2A / Calpainopathy

 

¿A qué edad le diagnosticaron:

I was diagnosed at the age of 42.

¿Cuáles fueron sus primeros síntomas?:

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.

¿Tiene otros familiares que padezcan LGMD?

No, I am the only family member with LGMD2A.

¿Cuáles crees que son los mayores retos de vivir con 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.

¿Cuál es su mayor logro?:

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

¿Cómo le ha influido la LGMD para convertirse en la persona que es hoy?

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.

¿Qué quiere que el mundo sepa sobre la 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 su LGMD pudiera "curarse" mañana, ¿qué sería lo primero que desearía hacer?:

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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