07/22/2015:

NOMBRE: Leanne EDAD: 50 yrs. old
PAÍS: Australia
Subtipo LGMD: LGMD2A / Calpainopathy

A QUÉ EDAD LE DIAGNOSTICARON:
I was diagnosed at the age of 42 yrs. old through a muscle biopsy.

¿CUÁLES FUERON SUS PRIMEROS SÍNTOMAS?:
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.

¿TIENE OTROS FAMILIARES CON ALGMD?:
No, soy el único familiar diagnosticado de LGMD.

¿CUÁLES CREE QUE SON LOS MAYORES RETOS DE VIVIR CON 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

¿CUÁL ES SU MAYOR LOGRO?:
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 .

¿CÓMO TE HA INFLUIDO LA ALGMD PARA CONVERTIRTE EN LA PERSONA QUE ERES HOY?:
I am definitely more empathetic and in less of a hurry (hahaha) and more accepting that life is not always a “bed of roses”

¿QUÉ QUIERE QUE EL MUNDO SEPA SOBRE LA DGML?:
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 MAÑANA SE PUDIERA "CURAR" SU DGML, ¿QUÉ SERÍA LO PRIMERO QUE DESEARÍA HACER?:
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!!