LGMD "焦点访谈"

NAME:  Lisa     年龄 50

国家：   United States of America

LGMD 子型号:   UNKNOWN

你是几岁被诊断出来的？

I was diagnosed with LGMD when I was 45 after decades of misdiagnosis

你最初的症状是什么？

My initial symptoms were stiff and numb feeling muscles. But I was an athlete so normal strength test didn’t show weakness. Breathing and cardio were always a struggle too

您是否有其他家庭成员患有肺结核？

My sister and nephew have same mutation but extremely mild symptoms so far ( younger).  Kids are being tested now

您认为患有 LGMD 的最大挑战是什么？

Greatest challenges are simple things. Stepping up a curb or lifting groceries and grandbabies.  Getting up from a chair, especially at restaurants etc These seem small but they effect me every day

你最大的成就是什么？

My greatest accomplishment will always be my kids. My youngest is 12. My biggest fear is not being there for him the way I have been for the rest

lgmd 是如何影响你成为今天的自己的？

Difficult question. I try not to let it change me but it does anyway.  I am certainly more aware of challenges people face. Not just my own and not just physically.  I am not a person who likes to depend on others.  I am slowly having to figure out how to accept help without being discouraged

您想让世界了解 LGMD 的哪些方面？

That it still exists.  That it comes in many forms and there is still no treatment.  I pray daily that gene therapy will be fast tracked

如果明天就能 "治愈 "你的老年痴呆症，你首先想做的是什么？

If my LGMD was cured tomorrow I would take my kids to Ireland ( I am Irish).   I would then get back to flipping houses which I love and can no longer do