07/22/2015:

NOME: Leanne ETÀ: 50 yrs. old
PAESE: Australia
Sottotipo LGMD: LGMD2A / Calpainopathy

A CHE ETÀ È STATA FATTA LA DIAGNOSI:
I was diagnosed at the age of 42 yrs. old through a muscle biopsy.

QUALI SONO STATI I PRIMI SINTOMI:
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.

HA ALTRI FAMILIARI AFFETTI DA LGMD?:
No, I am the only family member diagnosed with LGMD.

QUALI SONO, SECONDO LEI, LE MAGGIORI SFIDE NEL VIVERE CON LA 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

QUAL È IL SUO PIÙ GRANDE RISULTATO:
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 .

IN CHE MODO LA LGMD L'HA INFLUENZATA NEL DIVENTARE LA PERSONA CHE È OGGI:
I am definitely more empathetic and in less of a hurry (hahaha) and more accepting that life is not always a “bed of roses”

COSA VOLETE CHE IL MONDO SAPPIA DELLA LGMD?:
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.

SE LA VOSTRA LGM POTESSE ESSERE "CURATA" DOMANI, QUALE SAREBBE LA PRIMA COSA CHE VORRESTE FARE?:
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!!