10/16/2016

名前:  Annette               年齢: 40-50 yrs old

国名:  Ireland

LGMDサブタイプ:   LGMD2B

 

何歳で診断を受けたか:

I was diagnosed at the age of 38 yrs. old

最初の症状は？:

I was stumbling and falling.  I also had problems rising from a seated position and climbing stairs.

ご家族にLGMDの方はいらっしゃいますか？

No, I am the only person in my family with this diagnosis.

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？:

Lack of awareness is prevalent.  In addition, many facilities in Dublin (transport, restaurants, some theaters) are not anywhere near wheelchair accessible.

LGMD has impacted my professional life as I am no longer able to work full time and there have been financial consequences of this.

あなたの最大の功績は何ですか？:

I try to remain positive and optimistic.  I am fortunate that I am able to maintain an almost independent life. I am delighted to be taking part in a clinical outcome study in Newcastle, UK (the people there are wonderful).

LGMDは今のあなたにどのような影響を与えていますか？

I appreciate what I can do and try not to get downhearted regarding the things that are no longer possible.

LGMDについて世界に知ってもらいたいことは？:

I am blessed with a wonderful family and core group of friends who never let me down.

LGMD is a challenge but with a good support system in place, life can be good.  Greater funding allocations are imperative in order for LGMD to be treated and not be a life altering condition.

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 play with my beloved niece Emily, bring her to the park and do all the things a good auntie should do.

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