患有 LGMD 的个人： 托马斯

01/30/2016

LGMD "焦点访谈"

名称:  Thomas                                AGE: 31LGMD2B - Thomas

国家: Switzerland

LGMD 子类型: LGMD 2B / Miyoshi Myopathy

 

您在几岁时被确诊:

My first diagnosis (biopsy) was at 28, followed by the proof with genetic test one year later.

您最初的症状是什么？:

That is not so easy to say. Now I know where I have to look at, so many examples out of my memories came up; in my childhood we had a steeply rising stair around our home, where I always had difficulties to climb because the steps are very short. In teen age I started snowboarding, there I was not able to give much pressure to the front edge of the board. As young adult I could not jump to the music in discos. At age 24 / 25 I realized that I was not able to stand on my toes and my calve-muscles are actually inexistent. In the last few years I saw that my leg and arm muscles are shortening.

At 18 my doctor told me that I have too high creatine kinase values in my blood. It was around 250 – 300 somethings, too low for well-known diseases and too high to be normal. Now I know that this was the first medical indicator to Miyoshi.

您是否有其他家庭成员患有 LGMD：

Yes, my sister has LGMD too. Her symptoms (stand on toes, creatine kinase) are the same, but she seems to be less affected.

您认为 LGMD 患者在生活中面临的最大挑战是什么？:

In my opinion, the greatest challenge is to accept this challenge! At the first time after diagnosis, it was hard to accept. You need psychological strength to deal with that. Also when you look at your course of disease, not to overrate or underrate the symptoms and effects. By looking into the future, you always have to plan things with LGMD in mind (maybe you need a wheel chair in 5, 7, or 10 years).

您最大的成就是什么？:

To accept LGMD and enjoy doing things I won’t be able to do in future.

LGMD 是如何影响您成为今天的自己的？

My diagnosis came just at the beginning of my Master study. Beside my Bachelor and Master study (fulltime study) I was working at weekends and school holidays. Now I work part time and have a good reason to enjoy my leisure time with my wife, our dogs and our garden. I value more what I have now.

您希望世界了解 LGMD 的哪些方面？:

That it exists. I think there are many unrecorded cases of LGMD.

如果您的 LGMD 明天就能 "治愈"，您首先想做的是什么？:

I have just lost my driver license for trucks and coaches because of Miyoshi. It was not only a job to finance my studies, it was also my hobby. So I would get it back and drive around.

 

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。