04/29/2015

名前  Alicia

年齢:  38 yrs. old

国名:アメリカ

LGMDサブタイプ: LGMD2A / Calpainopathy

 

何歳で診断を受けたか:

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

最初の症状は？:

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

Do you have other family members who have LGMD:  No

LGMDと共に生きていく上で、最も困難だと感じることは何ですか？:

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.

あなたの最大の功績は何ですか？:

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は今のあなたにどのような影響を与えていますか？  

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

LGMDについて世界に知ってもらいたいことは？:

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.

もし明日、あなたのLGMDが "治る "としたら、まず何をしたいですか？:

Dance all night!