02/18/2015:

NAME: Suzanne

AGE: 45

COUNTRY: England

LGMD Sub-Type: LGMD2B – Miyoshi Variant

À QUEL ÂGE AVEZ-VOUS ÉTÉ DIAGNOSTIQUÉ ?
I was correctly diagnosed at around 29 yrs. old.

QUELS ONT ÉTÉ VOS PREMIERS SYMPTÔMES :
I couldn’t stand on tip-toes.

AVEZ-VOUS D'AUTRES MEMBRES DE LA FAMILLE ATTEINTS DE LGMD : Non

QUELS SONT, SELON VOUS, LES PLUS GRANDS DÉFIS À RELEVER POUR VIVRE AVEC LA 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.

QUELLE EST VOTRE PLUS GRANDE RÉALISATION :
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!

COMMENT LA LGMD VOUS A-T-ELLE INFLUENCÉ POUR QUE VOUS DEVENIEZ LA PERSONNE QUE VOUS ÊTES AUJOURD'HUI :
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!

SI VOTRE LGMD POUVAIT ÊTRE "GUÉRIE" DEMAIN, QUELLE SERAIT LA PREMIÈRE CHOSE QUE VOUS VOUDRIEZ FAIRE :
I would give my kids a “proper full-on” hug, run down the road and take dance lessons.