02/18/2015:

NAME: Suzanne

AGE: 45

COUNTRY: England

LGMD Sub-Type: LGMD2B – Miyoshi Variant

IN WELCHEM ALTER WURDE BEI IHNEN DIE DIAGNOSE GESTELLT?
I was correctly diagnosed at around 29 yrs. old.

WAS WAREN IHRE ERSTEN SYMPTOME?
I couldn’t stand on tip-toes.

HABEN SIE ANDERE FAMILIENMITGLIEDER, die an LGMD leiden: Nein

WAS SIND FÜR SIE DIE GRÖSSTEN HERAUSFORDERUNGEN IM LEBEN MIT 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.

WAS IST IHRE GRÖSSTE ERRUNGENSCHAFT:
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!

WIE HAT LGMD SIE ZU DER PERSON GEMACHT, DIE SIE HEUTE SIND?
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!

WENN IHRE LGMD MORGEN "GEHEILT" WERDEN KÖNNTE, WAS WÄRE DAS ERSTE, WAS SIE TUN WÜRDEN?
I would give my kids a “proper full-on” hug, run down the road and take dance lessons.