LGMD Spotlight interview – 09/02/2016

 

İsim:  Melanie  Yaş:  29 yrs. old

Ülke:   Germany

LGMD Alt Tipi :  LGMD2i (heterozygous type)

 

Kaç yaşında teşhis konuldu?:

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

İlk belirtileriniz neydi?:

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.

LGMD hastası olan başka aile üyeleriniz var mı?

Hayır, ailemde LGMD hastası olan tek kişi benim.

LGMD ile yaşamanın en büyük zorluklarının ne olduğunu düşünüyorsunuz?:

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!

En büyük başarınız nedir?:

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.

LGMD bugün olduğunuz kişi olmanızda sizi nasıl etkiledi?

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!

Dünyanın LGMD hakkında ne bilmesini istersiniz?:

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.

LGMD hastalığınız yarın "tedavi edilebilseydi", yapmak isteyeceğiniz ilk şey ne olurdu?:

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.

Daha fazla "LGMD Spotlight Röportajı" okumak veya gelecek bir röportajda yer almak için gönüllü olmak için lütfen web sitemizi ziyaret edin: https://www.lgmd-info.org/spotlight-interviews