LGMD "スポットライト・インタビュー"

名称:  Fred   年齢: 36 yrs. old

国名:アメリカ

LGMDサブタイプ:  LGMD2A  / Calpainopathy

 

何歳で診断を受けたか:

I was diagnosed at the age of 13.

最初の症状は？:

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.

ご家族にLGMDの方はいらっしゃいますか？

いや、僕だけだよ。

LGMDと共に生きていく上で、最も困難だと感じることは何ですか？:

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.

あなたの最大の功績は何ですか？:

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は今のあなたにどのような影響を与えていますか？

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.

LGMDについて世界に知ってもらいたいことは？:

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

もし明日、あなたのLGMDが "治る "としたら、まず何をしたいですか？:

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

 

* LGMD スポットライト・インタビュー」をもっと読みたい方、またはボランティアとしてインタビューに参加したい方は、以下のウェブサイトをご覧ください。 https://www.lgmd-info.org/spotlight-interviews