11/19/2015

名称:  Karen   AGE: 61 yrs. old

国名:アメリカ

LGMDサブタイプ: LGMD1B / Laminopathy

 

何歳で診断を受けたか:

I was diagnosed when I was 54 yrs. old.

最初の症状は？:

My first symptoms included:  falling, inability to climb stairs and difficulty lifting.

ご家族にLGMDの方はいらっしゃいますか？

My sister, her son and his daughter,  her daughter, and a brother all have the same diagnosis.  There have been 2 that were also tested and do not have it.  LGMD1B has an autosomal dominant inheritance pattern which means that typically this disease appears in every generation without skips.

LGMDと共に生きていく上で、最も困難だと感じることは何ですか？:

The greatest challenges for me include:  getting around, being able to get up when I sit, bathroom problems, lifting, being able to reach items, loading walker in car alone, walking, shopping, and getting dressed.

あなたの最大の功績は何ですか？:

For me, my greatest accomplishments include raising my kids and working with school children for 18 years.

LGMDは今のあなたにどのような影響を与えていますか？

It makes me more sympathetic to others and their issues.  I am feeling blessed to have family members around.  I  appreciate what I have left.

LGMDについて世界に知ってもらいたいことは？

Not all disabilities are immediately visible. Some of us might not look like anything is wrong and yet people judge us. I get plenty of stares when I park in a handicap parking space. I get the look…until I have to get a cart to even walk.    I wish that more people knew how to help us –  when we fall, etc.

It is frustrating that a lot of people do not know and understand the difference between MD and MS.  I say I have MD and they still say MS.

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？:

I would want to be able to hold as well as sit down and play with my granddaughter.

LGMDスポットライト・インタビュー」をもっと読みたい方、または今後のインタビューに志願したい方は、ウェブサイトhttps://www.lgmd-info.org/spotlight-interviews。