02/18/2015:

NAME: Suzanne

AGE: 45

COUNTRY: England

LGMD Sub-Type: LGMD2B – Miyoshi Variant

COM QUE IDADE FOI DIAGNOSTICADO:
I was correctly diagnosed at around 29 yrs. old.

QUAIS FORAM OS SEUS PRIMEIROS SINTOMAS:
I couldn’t stand on tip-toes.

TEM OUTROS MEMBROS DA FAMÍLIA QUE TENHAM LGMD: Não

QUAIS SÃO, NA SUA OPINIÃO, OS MAIORES DESAFIOS DE VIVER COM LGMD:
The greatest challenge is finding the energy to do everything I want to do. I find that something like even getting out of a chair is such hard work.

QUAL É A SUA MAIOR REALIZAÇÃO:
My greatest accomplishment is getting married and having two wonderful children. I have also learned to sail a boat with Sailability and have been ice skating in my wheelchair!

COMO É QUE A LGMD O INFLUENCIOU A TORNAR-SE A PESSOA QUE É HOJE?
It has helped me to realize what is really important in life such as family and friends and appreciate what I have as there are always people worse off than you.

WHAT DO YOU WANT THE WORLD TO KNOW ABOUT LGMD: There are currently no treatments or cure for LGMD 2B Miyoshi. The Jain Foundation is currently helping with clinical studies and research to find out more about the disease and try to find treatments or a cure!

SE A SUA LGMD PUDESSE SER "CURADA" AMANHÃ, QUAL SERIA A PRIMEIRA COISA QUE GOSTARIA DE FAZER:
I would give my kids a “proper full-on” hug, run down the road and take dance lessons.