LGMD Sub-Type: LGMD2B – Miyoshi Variant
AT WHAT AGE WERE YOU DIAGNOSED:
I was correctly diagnosed at around 29 yrs. old.
WHAT WERE YOUR FIRST SYMPTOMS:
I couldn’t stand on tip-toes.
DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD: No
WHAT DO YOU FIND TO BE THE GREATEST CHALLENGES IN LIVING WITH 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.
WHAT IS YOUR GREATEST ACCOMPLISHMENT:
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!
HOW HAS LGMD INFLUENCED YOU INTO BECOMING THE PERSON YOU ARE TODAY:
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!
IF YOUR LGMD COULD BE “CURED” TOMORROW, WHAT WOULD BE THE FIRST THING THAT YOU WOULD WANT TO DO:
I would give my kids a “proper full-on” hug, run down the road and take dance lessons.