02/18/2015:

NAME: Suzanne

AGE: 45

COUNTRY: England

LGMD Sub-Type: LGMD2B – Miyoshi Variant

A CHE ETÀ LE È STATA DIAGNOSTICATA:
I was correctly diagnosed at around 29 yrs. old.

QUALI SONO STATI I PRIMI SINTOMI:
I couldn’t stand on tip-toes.

HA ALTRI MEMBRI DELLA FAMIGLIA CHE HANNO LA LGMD: No

QUALI SONO, SECONDO LEI, LE MAGGIORI SFIDE NEL VIVERE CON 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.

QUAL È IL SUO PIÙ GRANDE RISULTATO:
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!

IN CHE MODO LA LGMD L'HA INFLUENZATA NEL DIVENTARE LA PERSONA CHE È OGGI:
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 LA VOSTRA LGM POTESSE ESSERE "CURATA" DOMANI, QUALE SAREBBE LA PRIMA COSA CHE VORRESTE FARE:
I would give my kids a “proper full-on” hug, run down the road and take dance lessons.