04/25/2015

名前:  Audrey

年齢: 42 Yrs. Old

国名:アメリカ

LGMDサブタイプ: LGMD2i

何歳で診断されたか:
I was diagnosed with LGMD when I was 37. I had never heard of it before my diagnosis.

最初の症状は？:

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.

LGMDと共に生きる上で、最も困難だと感じることは何ですか？:

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!

あなたの最大の功績は何ですか:

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

LGMDは現在のあなたにどのような影響を与えていますか？:

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!

LGMDについて世界に何を知ってもらいたいですか？:

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

もし明日、あなたのLGMDが「治る」としたら、まず何をしたいですか？:

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!