“LGMD SPOTLIGHT INTERVIEW” – 01/18/2016

Nome:  Laurence    Età: 49

Paese: France

Sottotipo LGMD: LGMD2A / Calpainopathy

 

A che età è stata fatta la diagnosi:

I was diagnosed at the age of 42.

Quali sono stati i primi sintomi:

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.

Avete altri familiari affetti da LGMD:

No, I am the only family member with LGMD2A.

Quali sono, secondo lei, le sfide più grandi da affrontare nella convivenza con la 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.

Qual è il suo più grande risultato:

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

In che modo la LGMD l'ha influenzata nel diventare la persona che è oggi:

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.

Cosa volete che il mondo sappia della 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!!!

Se la vostra LGMD potesse essere "curata" domani, quale sarebbe la prima cosa che vorreste fare?:

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

Per leggere altre "Interviste Spotlight LGMD" o per proporsi come volontario per una prossima intervista, visitate il nostro sito web all'indirizzo: https://www.lgmd-info.org/spotlight-interviews.