LGMD "스포트라이트 인터뷰"

NAME:  Lisa     AGE: 50

국가:   United States of America

LGMD 하위 유형:   UNKNOWN

몇 살에 진단을 받으셨나요?

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

첫 증상은 무엇이었나요?

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

다른 가족 중에 LGMD를 앓고 있는 사람이 있나요?

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

LGMD와 함께 생활하면서 가장 큰 어려움은 무엇이라고 생각하나요?

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

가장 큰 성과는 무엇인가요?

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

LGMD가 지금의 자신을 만드는 데 어떤 영향을 미쳤나요?

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

세상이 LGMD에 대해 알았으면 하는 것은 무엇인가요?

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

내일 LGMD가 '완치'될 수 있다면 가장 먼저 하고 싶은 일은 무엇일까요?

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