04/29/2015

İsim:  Alicia

Yaş:  38 yrs. old

Ülke: Birleşik Devletler

LGMD Alt Tipi: LGMD2A / Calpainopathy

 

Kaç yaşında teşhis konuldu?:

I was diagnosed at age 35 after years & years of being misdiagnosed.

İlk belirtileriniz neydi?:

Walking & running on my toes and climbing stairs were the first symptoms.

Do you have other family members who have LGMD:  No

LGMD ile yaşamanın en büyük zorluklarının ne olduğunu düşünüyorsunuz?:

One of the biggest challenges for me has been finding physicians who are educated when it comes to LGMD and the challenges & symptoms that come along with the disease.  Many doctors didn’t take my issues seriously (muscle pains, loss in strength, problems walking/stairs) or thought I had an autoimmune disease before I found a doctor that finally sent me to the Mayo Clinic. After an EMG, blood tests & a muscle biopsy I was finally diagnosed but it took many years and many doctors to get where I am at.

En büyük başarınız nedir?:

Raising two amazing daughters with my husband of 14years has been an accomplishment and a blessing. Teaching them kindness and to be more empathetic towards people since we never really know the struggles of those around us.

LGMD bugün olduğunuz kişi olmanızda sizi nasıl etkiledi?  

It has taught be to be kinder, listen more and laugh every day.  Sometimes all you can do is laugh.

Dünyanın LGMD hakkında ne bilmesini istersiniz?:

That there are currently no treatments or cure for LGMD and if you have a family member or even a friend who has been diagnosed please educate yourself about the disease.  It could mean the world to someone.

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

Dance all night!