04/25/2015

NOM:  Audrey

AGE: 42 Yrs. Old

PAYS: États-Unis

LGMD Sous-type: LGMD2i

À QUEL ÂGE AVEZ-VOUS ÉTÉ DIAGNOSTIQUÉ ?:
I was diagnosed with LGMD when I was 37. I had never heard of it before my diagnosis.

QUELS ONT ÉTÉ LES PREMIERS SYMPTÔMES ?:

I noticed in my twenties I began having trouble climbing stairs, raising from the floor, and lifting my legs. Unfortunately, I didn’t know how abnormally weak I was becoming. I thought I was just out of shape or uncoordinated. When I needed physical therapy for shoulder pain, the PT sent me back to my doctor because she recognized something was seriously wrong.

DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD:

My older sister also has LGMD2i, but her progression is slower.

QUELS SONT, SELON VOUS, LES PLUS GRANDS DÉFIS À RELEVER POUR VIVRE AVEC LA LGMD ?:

My greatest challenge has been to accept help without feeling like a burden on others. I’m still able to walk, but I need a lot of help from my family with everyday life. I am so fortunate to have such a great family support system. Sometimes I can’t believe how lucky I am!

QUELLE EST VOTRE PLUS GRANDE RÉALISATION ?:

I’ve spent the last 23 years being a mother to my 3 daughters. Motherhood is certainly my greatest accomplishment.

COMMENT LA LGMD VOUS A-T-ELLE INFLUENCÉ POUR DEVENIR LA PERSONNE QUE VOUS ÊTES AUJOURD'HUI ?:

LGMD has allowed me to simply accept what life offers. When faced with this diagnosis and an uncertain future, I’ve found out I’m still okay… I can do this, and I’m going to be okay!

QUE VOULEZ-VOUS QUE LE MONDE SACHE SUR LA LGMD ?:

I think it would be great to put LGMD on more people’s radar. Most doctors I’ve seen haven’t heard of it.

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

If I were cured tomorrow, I’d run. I’d run as far as I could, then I would climb the stairs. I’d help every person who dropped something pick it up. I would plant and tend a beautiful garden. I would never take these legs for granted!