11/19/2015

名称:  Karen   AGE: 61 yrs. old

国家:美国

LGMD 子类型: LGMD1B / Laminopathy

 

您在几岁时被确诊:

I was diagnosed when I was 54 yrs. old.

您最初的症状是什么？:

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

您是否有其他家庭成员患有 LGMD：

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.

您认为 LGMD 患者在生活中面临的最大挑战是什么？:

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.

您最大的成就是什么？:

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

LGMD 是如何影响您成为今天的自己的？

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.

您希望世界了解 LGMD 的哪些方面？

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.

如果您的 LGMD 明天就能 "治愈"，您首先想做的是什么？:

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

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