LGMD Spotlight interview – 09/02/2016

 

名称:  Melanie  年龄:  29 yrs. old

国家:   Germany

LGMD 子类型 :  LGMD2i (heterozygous type)

 

您在几岁时被确诊:

I was diagnosed at the age of 4 by having a muscle biopsy.

您最初的症状是什么？:

I always fell when I tried to run and to take the stairs.  This resulted in many bruises and scars!  In addition, I couldn’t get up from the floor by myself.   These symptoms already showed up around the age of 2.

您是否有其他家庭成员患有 LGMD：

不，我是家族中唯一的 LGMD 患者。

您认为 LGMD 患者在生活中面临的最大挑战是什么？:

The greatest challenge is to make people understand that I’m not too lazy to do everyday tasks but I am too weak to do them on my own.  Another challenge for many of us is accepting a wheelchair as your best friend!

您最大的成就是什么？:

There are far too many accomplishments!  Living a good life with LGMD is an accomplishment in itself!  On my blog (www.littlemissturtle.com) I write about all of my accomplishments and adventures on wheels.

LGMD 是如何影响您成为今天的自己的？

I grew up with LGMD.  It made me a very strong person.  Dealing with a progressive disease that causes muscle weakness and atrophy while being fully conscious  about it is a demanding challenge  I appreciate every day of my life!   I stopped working recently to have more time to do all the things I love.  LGMD taught me to take things the easy way.  Enjoy more, worry less, stay positive and spend as much time as possible with loved ones.  That’s my way!

您希望世界了解 LGMD 的哪些方面？:

LGMD is a rare and tricky disease.  It cannot be compared to any other disease like Multiple Sclerosis (MS), etc.  It is important to fully listen to a person who has LGMD when he or she asks for assistance – to avoid hurting him or her in the process.

如果您的 LGMD 明天就能 "治愈"，您首先想做的是什么？:

I would get up from the bed by myself, dress and then go for the walk of my life!  I would walk for as long as my feet would carry me.

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