INDIVIDUAL WITH LGMD: Leanne

07/22/2015:

NOM: Leanne AGE: 50 yrs. oldLGMD2A - Leanne
PAYS: Australie
LGMD Sous-type: LGMD2A / Calpainopathy

À QUEL ÂGE AVEZ-VOUS ÉTÉ DIAGNOSTIQUÉ ?:
I was diagnosed at the age of 42 yrs. old through a muscle biopsy.

QUELS ONT ÉTÉ LES PREMIERS SYMPTÔMES ?:
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.

AVEZ-VOUS D'AUTRES MEMBRES DE VOTRE FAMILLE QUI SONT ATTEINTS DE LA LGMD ?:
Non, je suis le seul membre de ma famille à avoir reçu un diagnostic de LGMD.

QUELS SONT, SELON VOUS, LES PLUS GRANDS DÉFIS À RELEVER POUR VIVRE AVEC 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

QUELLE EST VOTRE PLUS GRANDE RÉALISATION ?:
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 .

COMMENT LA LGMD VOUS A-T-ELLE INFLUENCÉ POUR DEVENIR LA PERSONNE QUE VOUS ÊTES AUJOURD'HUI ?:
I am definitely more empathetic and in less of a hurry (hahaha) and more accepting that life is not always a “bed of roses”

QUE VOULEZ-VOUS QUE LE MONDE SACHE SUR LA 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.

SI VOTRE LGMD POUVAIT ÊTRE "GUÉRIE" DEMAIN, QUELLE SERAIT LA PREMIÈRE CHOSE QUE VOUS SOUHAITERIEZ FAIRE ?:
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!!