LGMD Spotlight interview – 09/02/2016

 

名称:  Melanie  年齢:  29 yrs. old

国名:   Germany

LGMDサブタイプ :  LGMD2i (heterozygous type)

 

何歳で診断を受けたか:

I was diagnosed at the age of 4 by having a muscle biopsy.

最初の症状は？:

I always fell when I tried to run and to take the stairs.  This resulted in many bruises and scars!  In addition, I couldn’t get up from the floor by myself.   These symptoms already showed up around the age of 2.

ご家族にLGMDの方はいらっしゃいますか？

いいえ、私の家族でLGMDを患っているのは私だけです。

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 is to make people understand that I’m not too lazy to do everyday tasks but I am too weak to do them on my own.  Another challenge for many of us is accepting a wheelchair as your best friend!

あなたの最大の功績は何ですか？:

There are far too many accomplishments!  Living a good life with LGMD is an accomplishment in itself!  On my blog (www.littlemissturtle.com) I write about all of my accomplishments and adventures on wheels.

LGMDは今のあなたにどのような影響を与えていますか？

I grew up with LGMD.  It made me a very strong person.  Dealing with a progressive disease that causes muscle weakness and atrophy while being fully conscious  about it is a demanding challenge  I appreciate every day of my life!   I stopped working recently to have more time to do all the things I love.  LGMD taught me to take things the easy way.  Enjoy more, worry less, stay positive and spend as much time as possible with loved ones.  That’s my way!

LGMDについて世界に知ってもらいたいことは？:

LGMD is a rare and tricky disease.  It cannot be compared to any other disease like Multiple Sclerosis (MS), etc.  It is important to fully listen to a person who has LGMD when he or she asks for assistance – to avoid hurting him or her in the process.

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？:

I would get up from the bed by myself, dress and then go for the walk of my life!  I would walk for as long as my feet would carry me.

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でインタビューに参加したい方は、ウェブサイトをご覧ください： https://www.lgmd-info.org/spotlight-interviews