04/29/2015

Имя:  Alicia

Возраст:  38 yrs. old

Страна: Соединенные Штаты

LGMD Подтип: LGMD2A / Calpainopathy

 

В каком возрасте вам был поставлен диагноз:

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

Каковы были ваши первые симптомы:

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

Do you have other family members who have LGMD:  No

Что, по вашему мнению, является наибольшей проблемой в жизни с LGMD:

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.

Какое ваше самое большое достижение:

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.

Как LGMD повлиял на то, что вы стали тем человеком, которым являетесь сегодня:  

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

Что вы хотите, чтобы мир узнал о LGMD:

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.

Если бы ваш LGMD можно было "вылечить" завтра, что бы вы хотели сделать в первую очередь:

Dance all night!