Name:  Laurence    Age: 49LGMD2A - Laurence

Country: France

LGMD Sub-Type: LGMD2A / Calpainopathy


At what age were you diagnosed:

I was diagnosed at the age of 42.

What were your first symptoms:

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.

Do you have other family members who have LGMD:

No, I am the only family member with LGMD2A.

What do you find to be the greatest challenges in living with 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.

What is your greatest accomplishment:

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

How has LGMD influenced you into becoming the person you are today:

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.

What do you want the world to know about 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!!!

If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do:

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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