07/22/2015:

ИМЯ: Leanne ВОЗРАСТ: 50 yrs. old
СТРАНА: Australia
LGMD Подтип: LGMD2A / Calpainopathy

В КАКОМ ВОЗРАСТЕ ВАМ ПОСТАВИЛИ ДИАГНОЗ:
I was diagnosed at the age of 42 yrs. old through a muscle biopsy.

КАКИЕ У ВАС БЫЛИ ПЕРВЫЕ СИМПТОМЫ:
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.

ЕСТЬ ЛИ У ВАС ДРУГИЕ ЧЛЕНЫ СЕМЬИ, СТРАДАЮЩИЕ LGMD:
Нет, я единственный член семьи с диагнозом LGMD.

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

КАКОЕ ВАШЕ САМОЕ БОЛЬШОЕ ДОСТИЖЕНИЕ:
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 .

КАК БОЛЕЗНЬ ЛГМ ПОВЛИЯЛА НА ТО, ЧТО ВЫ СТАЛИ ТЕМ ЧЕЛОВЕКОМ, КОТОРЫМ ЯВЛЯЕТЕСЬ СЕГОДНЯ:
I am definitely more empathetic and in less of a hurry (hahaha) and more accepting that life is not always a “bed of roses”

ЧТО ВЫ ХОТИТЕ, ЧТОБЫ МИР УЗНАЛ О ЛГМД:
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.

ЕСЛИ БЫ ЗАВТРА МОЖНО БЫЛО БЫ "ВЫЛЕЧИТЬ" ВАШ ЛГМД, ЧТО БЫ ВЫ СДЕЛАЛИ В ПЕРВУЮ ОЧЕРЕДЬ:
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!!