07/26/2016 – LGMD "스포트라이트 인터뷰"

이름:  Maram    AGE: 26 years old

국가: Palestine

LGMD 하위 유형: LGMD2E

 

몇 살에 진단받으셨나요?:

I was diagnosed with muscular dystrophy at the age of 10.  When I was 26 years old, I received genetic confirmation of my LGMD2E diagnosis.

첫 증상은 무엇이었나요?:

When I was 3 years old, my parents noticed that my gait was unsteady and it was difficult for me to stand up from the ground.

다른 가족 중에 LGMD를 앓고 있는 사람이 있나요?

아니요, 가족 중에 저만 있습니다.

LGMD와 함께 생활하면서 가장 어려운 점은 무엇인가요?:

There are so many challenges.  Simple things for many people are my greatest challenges but going to the bathroom and changing my position from side to side while sleeping make me feel so weak.

가장 큰 성과는 무엇인가요?:

Well, in my country people know nothing about LGMD.  I am trying every day to increase the awareness of the disease by social media.  I have helped many patients in my country and in the Arab world to the genetic test to confirm their diagnosis and to get the equipment that we need to make life a little easier for us.  I have also contacted my patients from around the world and we have become close friends.  They are my greatest accomplishments.

LGMD가 지금의 자신을 만드는 데 어떤 영향을 미쳤나요?

I think it has made me stronger in one way or another.  I have become more caring for the people around me. I appreciate every little blessing in my life including my great family.  I have become closer to God.  I think it changed me in a good way and I like who I am today.

LGMD에 대해 전 세계에 알리고 싶은 내용:

I want them to know that we are not so different form normal people.   What happened that a simple genetic error or mutation has caused me difficulty in moving while they can.  The cause is not so complicated and if we understand that, we can find the treatment.

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

I would like to hug my parents so tightly and never let them go.  I keep thinking how hard life would be without them.

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