LGMD 焦点访谈

名称： Cecilia   年龄 36 years

国家： Argentina

LGMD 子类型：  LGMD2A/Calpainopathy

 

您是在几岁时被诊断出来的？

I was diagnosed when I was 12 years old.

你最初的症状是什么？

I began walking on my toes. Also, from the time I was little, my mother noticed I had delayed reactions, for example in chasing a ball.

您有其他家庭成员患有 LGMD 吗？

不，我是家族中唯一的 LGMD 患者。

您认为 LGMD 患者生活中最大的挑战是什么？

The biggest challenge was getting accustomed to the first changes, the first things that I became unable to do: for example, climb stairs and get up from the floor.  At a more advanced stage, coming up with strategies to be able to get up from the bed, from a chair, etc. and then, mourning the loss of walking ability and beginning to use a wheelchair or scooter part-time or full-time.

Also, it was a challenge to find balance and know the limits of my body.  Knowing how far I could go without exhausting myself; deciding what to do myself and when to ask for help.

The good thing is that I learned to accept changes, to be clever and creative, and to think of solutions to do thing in other ways, and to look for alternatives.

您最大的成就是什么？

My biggest accomplishment is that I’ve always achieved what I wanted, and I continue to do so.  My family deserves a lot of credit for that, they always taught me that the disease isn’t a barrier or an excuse, that everything is possible if one can “find a way”, that there is an alternative path, which may have obstacles, but which will lead us to our goal.

LGMD 是如何影响您成为今天的自己的？

If I didn’t have this disease I wouldn’t be the person I am.  The challenges made me grow and become strong.  I don’t deny what I can’t do and the circumstances that affect me.  I developed the ability to confront with a positive attitude the changes that occur. I know that in some way things always work out.

This has influenced my professional career and the field that I chose to work in.  I work in non-governmental organizations on behalf of the rights of people with disabilities, especially where physical accessibility is concerned.  Also, here in Argentina, I’m part of the Muscular Dystrophy Association, and write articles giving encouragement to others who are experiencing situations which cause disability.

您希望世界了解 LGMD 的哪些方面？

1. That this disease, just like many others, doesn’t make people less than others.
2. To shoot down myths, such as that we are weak and fragile.
3. To move past prejudice.
4. For there to be equal rights: that we can study, work, fall in love, and accomplish so many things.

I’m a person determined to live a full life. Isn’t that what everyone is looking for?

如果明天就能 "治愈 "您的 LGMD，您首先想做的是什么？

I can imagine so many things!  Nothing very special, but just to reconnect myself with my body: run, jump, climb stairs, ride a bicycle, play with my nephew on the floor, go to all the places that I couldn’t get in to.

And clearly, I would have more push to keep helping those who are still waiting for a cure!  I’m a part of this.

 

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