LGMD Spotlight interview – 09/02/2016

 

Nom:  Melanie  L'âge:  29 yrs. old

Pays:   Germany

LGMD Sous-type :  LGMD2i (heterozygous type)

 

À quel âge avez-vous été diagnostiqué ?:

I was diagnosed at the age of 4 by having a muscle biopsy.

Quels ont été vos premiers symptômes ?:

I always fell when I tried to run and to take the stairs.  This resulted in many bruises and scars!  In addition, I couldn’t get up from the floor by myself.   These symptoms already showed up around the age of 2.

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

Non, je suis le seul de ma famille à être atteint de LGMD.

Quels sont, selon vous, les plus grands défis à relever pour vivre avec le LGMD ?:

The greatest challenge is to make people understand that I’m not too lazy to do everyday tasks but I am too weak to do them on my own.  Another challenge for many of us is accepting a wheelchair as your best friend!

Quelle est votre plus grande réussite ?:

There are far too many accomplishments!  Living a good life with LGMD is an accomplishment in itself!  On my blog (www.littlemissturtle.com) I write about all of my accomplishments and adventures on wheels.

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

I grew up with LGMD.  It made me a very strong person.  Dealing with a progressive disease that causes muscle weakness and atrophy while being fully conscious  about it is a demanding challenge  I appreciate every day of my life!   I stopped working recently to have more time to do all the things I love.  LGMD taught me to take things the easy way.  Enjoy more, worry less, stay positive and spend as much time as possible with loved ones.  That’s my way!

Que voulez-vous que le monde sache sur le LGMD ?:

LGMD is a rare and tricky disease.  It cannot be compared to any other disease like Multiple Sclerosis (MS), etc.  It is important to fully listen to a person who has LGMD when he or she asks for assistance – to avoid hurting him or her in the process.

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

I would get up from the bed by myself, dress and then go for the walk of my life!  I would walk for as long as my feet would carry me.

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