LGMD "焦点访谈"

名称:  Fred   年龄: 36 yrs. old

国家:美国

LGMD 子类型:  LGMD2A  / Calpainopathy

 

您在几岁时被确诊:

我在 13 岁时被确诊。

您最初的症状是什么？:

Looking back I was always slightly slower than the other kids but I can’t say there was one symptom which my parents or I noticed.  I was diagnosed on a fluke. I had gone skiing with a church group and ultimately broke my leg.  When I went to the hospital emergency room for my broken leg, a Dr noticed that I was not as strong as I should have been at that age.  That resulted in a muscle biopsy.  Initially, I was diagnosed with Becker’s MD, this was all pre-DNA testing.

您是否有其他家庭成员患有 LGMD：

不，我是唯一一个。

您认为 LGMD 患者在生活中面临的最大挑战是什么？:

The greatest challenge for me is not being able to hold my 7-month old without assistance. Constantly having to advocate for me as it pertains to this condition.  I never noticed how many people have “ableist” attitudes. The last for me would be not being able to freely visit friends and family.

您最大的成就是什么？:

I have so many accomplishments, but if I could only choose one I’d say working my way off of SSI. After my diagnosis, I had given up hope of ever having a job, a car, a home, a family of my own etc. Today, I am a state police dispatcher, I drive, I have a beautiful family, I’m currently looking to purchase my first home, and I’m optimistic that when the time comes and I no longer can physically do the job I have that God will provide another opportunity.

LGMD 是如何影响您成为今天的自己的？

LGMD has taught me how to fight for what I want.  It’s taught me that I’m never as limited as I may think.  Anything is possible.

您希望世界了解 LGMD 的哪些方面？:

That LGMD has not been cured yet but, with their help, it can be.

如果您的 LGMD 明天就能 "治愈"，您首先想做的是什么？:

Pick my little boy up, give him a tight hug, toss him up in the air and catch him.

 

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