07/22/2015:

姓名: Leanne 年龄: 50 yrs. old
国家:澳大利亚
LGMD 子类型: LGMD2A / Calpainopathy

您在几岁时确诊:
I was diagnosed at the age of 42 yrs. old through a muscle biopsy.

您最初的症状是什么？:
I was losing weight around hips and glutes. Upon diagnosis other things fell into place i.e. greater difficulty getting up from a squat, not feeling energized after Gym work, and not springing up stairs.

您是否有其他家庭成员患有 LGMD:
No, I am the only family member diagnosed with LGMD.

您认为患有 LGMD 的最大挑战是什么？:
Lack of spontaneity in activities especially solo trips i.e. camera “playtime”, shopping .

Having to start asking for things to be done when I am always more comfortable being the helper/doer

Having to reassess and redefine my goals and hopes for the future to fit in with the limitations that exist now and will continue to do so without clear guidelines as to how and when the LMGD will progress due to it’s inconsistent nature

您最大的成就是什么:
I hope that I am a good, caring person in all my relationships and that I have helped instill in my young adult children good morals and values .

lgmd 是如何影响你成为今天的自己的？:
I am definitely more empathetic and in less of a hurry (hahaha) and more accepting that life is not always a “bed of roses”

您希望世界了解 LGMD 的哪些方面？:
I would like to see it as easily identifiable amongst the public as such conditions as ALS (MND); they’re still fighting for recognition but have an arguably higher profile than MD, Cancer, MS and many others to help people be understanding and educated about the needs required.

如果明天就能 "治愈 "你的老年痴呆症，你最想做的第一件事是什么？:
All have equal billing – Go on a big family walk, take my camera to the beach, travel everywhere with no pre-planning, redecorate and garden!!