04/29/2015

이름:  Alicia

나이:  38 yrs. old

국가: 미국

LGMD 하위 유형: LGMD2A / Calpainopathy

 

몇 살에 진단받으셨나요?:

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

첫 증상은 무엇이었나요?:

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

Do you have other family members who have LGMD:  No

LGMD와 함께 생활하면서 가장 어려운 점은 무엇인가요?:

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.

가장 큰 성과는 무엇인가요?:

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.

LGMD가 지금의 자신을 만드는 데 어떤 영향을 미쳤나요?  

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

LGMD에 대해 전 세계에 알리고 싶은 내용:

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.

내일 LGMD가 "완치"될 수 있다면 가장 먼저 하고 싶은 일은 무엇인가요?:

Dance all night!