LGMD "スポットライト・インタビュー"

名前  Lisa     歳： 50

国：   United States of America

LGMDサブタイプ:   UNKNOWN

何歳で診断されましたか？

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

最初の症状は何でしたか？

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

ご家族にLGMDの方がいらっしゃいますか？

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

LGMDと共に生きる上で、最も困難だと感じることは何ですか？

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

あなたの最大の功績は何ですか？

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は今のあなたにどのような影響を与えていますか？

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

LGMDについて世間に何を知ってもらいたいですか？

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

もし明日、あなたのラグム病が「治る」としたら、まず何をしたいですか？

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