04/29/2015

Nome:  Alicia

Età:  38 yrs. old

Paese: Stati Uniti

Sottotipo LGMD: LGMD2A / Calpainopathy

 

A che età è stata fatta la diagnosi:

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

Quali sono stati i primi sintomi:

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

Do you have other family members who have LGMD:  No

Quali sono, secondo lei, le sfide più grandi da affrontare nella convivenza con la 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.

Qual è il suo più grande risultato:

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.

In che modo la LGMD l'ha influenzata nel diventare la persona che è oggi:  

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

Cosa volete che il mondo sappia della 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.

Se la vostra LGMD potesse essere "curata" domani, quale sarebbe la prima cosa che vorreste fare?:

Dance all night!