04/29/2015

Nome:  Alicia

Idade:  38 yrs. old

País: Estados Unidos

LGMD Sub-tipo: LGMD2A / Calpainopathy

 

Com que idade foi diagnosticado:

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

Quais foram os seus primeiros sintomas:

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

Do you have other family members who have LGMD:  No

Quais são, na sua opinião, os maiores desafios de viver com a 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 é a sua maior realização:

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.

Como é que a LGMD o influenciou a tornar-se a pessoa que é hoje?  

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

O que quer que o mundo saiba sobre a 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 a sua LGMD pudesse ser "curada" amanhã, qual seria a primeira coisa que gostaria de fazer?:

Dance all night!