02/18/2015:

NAME: Suzanne

AGE: 45

COUNTRY: England

LGMD Sub-Type: LGMD2B – Miyoshi Variant

KAÇ YAŞINDA TEŞHIS KONULDU?
I was correctly diagnosed at around 29 yrs. old.

İLK BELIRTILERINIZ NEYDI?
I couldn’t stand on tip-toes.

LGMD'Lİ BAŞKA AİLE ÜYELERİNİZ VAR MI: Hayır

LGMD İLE YAŞARKEN KARŞILAŞTIĞINIZ EN BÜYÜK ZORLUKLARIN NELER OLDUĞUNU DÜŞÜNÜYORSUNUZ:
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.

EN BÜYÜK BAŞARINIZ NEDIR?
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!

LGMD BUGÜN OLDUĞUNUZ KIŞI OLMANIZDA SIZI NASIL ETKILEDI?
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!

LGMD HASTALIĞINIZ YARIN "TEDAVİ" EDİLEBİLECEK OLSA, YAPMAK İSTEYECEĞİNİZ İLK ŞEY NE OLURDU?
I would give my kids a “proper full-on” hug, run down the road and take dance lessons.