07/22/2015:

名前: Leanne 年齢: 50 yrs. old
国名: Australia
LGMDサブタイプ: LGMD2A / Calpainopathy

何歳で診断されたか:
I was diagnosed at the age of 42 yrs. old through a muscle biopsy.

最初の症状は？:
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.

家族にLGMD患者がいますか？:
いいえ、LGMDと診断された家族は私だけです。

LGMDと共に生きる上で、最も困難だと感じることは何ですか？:
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

あなたの最大の功績は何ですか:
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は現在のあなたにどのような影響を与えていますか？:
I am definitely more empathetic and in less of a hurry (hahaha) and more accepting that life is not always a “bed of roses”

LGMDについて世界に何を知ってもらいたいですか？:
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.

もし明日、あなたのLGMDが「治る」としたら、まず何をしたいですか？:
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!!