“LGMD SPOTLIGHT INTERVIEW” – 01/18/2016

Name:  Laurence    Alter: 49

Land: France

LGMD Unter-Typ: LGMD2A / Kalpainopathie

 

In welchem Alter wurde bei Ihnen die Diagnose gestellt?:

I was diagnosed at the age of 42.

Was waren Ihre ersten Symptome?:

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.

Haben Sie andere Familienmitglieder, die LGMD haben?

No, I am the only family member with LGMD2A.

Was sind für Sie die größten Herausforderungen im Leben mit 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.

Was ist Ihre größte Errungenschaft?:

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

Wie hat LGMD Sie zu der Person gemacht, die Sie heute sind?

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.

Was möchten Sie der Welt über LGMD mitteilen?:

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!!!

Wenn Ihre LGMD morgen "geheilt" werden könnte, was würden Sie als Erstes tun wollen?:

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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