07/26/2016 – LGMD "焦点访谈"

姓名:  Maram    年龄: 26 years old

国家: Palestine

LGMD 子类型: LGMD2E

 

您在几岁时被确诊:

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.

您最初的症状是什么？:

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.

您是否有其他家庭成员患有 LGMD：

不，我家只有我一个人。

您认为 LGMD 患者在生活中面临的最大挑战是什么？:

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.

您最大的成就是什么？:

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.

LGMD 是如何影响您成为今天的自己的？

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.

您希望世界了解 LGMD 的哪些方面？:

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.

如果您的 LGMD 明天就能 "治愈"，您首先想做的是什么？:

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

如需阅读更多 "LGMD 焦点访谈"，或自愿参加即将举行的访谈，请访问我们的网站： https://www.lgmd-info.org/spotlight-interviews。