02/18/2015:

NAME: Suzanne

AGE: 45

COUNTRY: England

LGMD Sub-Type: LGMD2B – Miyoshi Variant

В КАКОМ ВОЗРАСТЕ ВАМ ПОСТАВИЛИ ДИАГНОЗ:
I was correctly diagnosed at around 29 yrs. old.

КАКОВЫ БЫЛИ ВАШИ ПЕРВЫЕ СИМПТОМЫ:
I couldn’t stand on tip-toes.

Есть ли у вас другие члены семьи, страдающие LGMD: Нет

ЧТО, ПО ВАШЕМУ МНЕНИЮ, ЯВЛЯЕТСЯ НАИБОЛЬШЕЙ ТРУДНОСТЬЮ В ЖИЗНИ С ЛГМД:
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.

КАКОЕ ВАШЕ САМОЕ БОЛЬШОЕ ДОСТИЖЕНИЕ:
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!

КАК БОЛЕЗНЬ ЛГМ ПОВЛИЯЛА НА ТО, ЧТО ВЫ СТАЛИ ТЕМ ЧЕЛОВЕКОМ, КОТОРЫМ ЯВЛЯЕТЕСЬ СЕГОДНЯ:
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!

ЕСЛИ БЫ ЗАВТРА ВАШ ЛГМД МОЖНО БЫЛО "ВЫЛЕЧИТЬ", ЧТО БЫ ВЫ СДЕЛАЛИ В ПЕРВУЮ ОЧЕРЕДЬ:
I would give my kids a “proper full-on” hug, run down the road and take dance lessons.