11/19/2015

이름:  Karen   AGE: 61 yrs. old

국가: 미국

LGMD 하위 유형: LGMD1B / Laminopathy

 

몇 살에 진단받으셨나요?:

I was diagnosed when I was 54 yrs. old.

첫 증상은 무엇이었나요?:

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

다른 가족 중에 LGMD를 앓고 있는 사람이 있나요?

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.

LGMD와 함께 생활하면서 가장 어려운 점은 무엇인가요?:

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.

가장 큰 성과는 무엇인가요?:

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

LGMD가 지금의 자신을 만드는 데 어떤 영향을 미쳤나요?

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.

LGMD에 대해 전 세계에 알리고 싶은 내용

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.

내일 LGMD가 "완치"될 수 있다면 가장 먼저 하고 싶은 일은 무엇인가요?:

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

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