04/29/2015

名称：  Alicia

年龄:  38 yrs. old

国家:美国

LGMD 子类型: LGMD2A / Calpainopathy

 

您在几岁时被确诊:

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

您最初的症状是什么？:

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

Do you have other family members who have LGMD:  No

您认为 LGMD 患者在生活中面临的最大挑战是什么？:

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.

您最大的成就是什么？:

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 是如何影响您成为今天的自己的？  

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

您希望世界了解 LGMD 的哪些方面？:

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.

如果您的 LGMD 明天就能 "治愈"，您首先想做的是什么？:

Dance all night!