10/16/2016

姓名:  Annette               年龄: 40-50 yrs old

国家:  Ireland

LGMD 子类型:   LGMD2B

 

您在几岁时被确诊:

I was diagnosed at the age of 38 yrs. old

您最初的症状是什么？:

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

您是否有其他家庭成员患有 LGMD：

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

您认为 LGMD 患者在生活中面临的最大挑战是什么？:

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.

您最大的成就是什么？:

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 是如何影响您成为今天的自己的？

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

您希望世界了解 LGMD 的哪些方面？:

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.

如果您的 LGMD 明天就能 "治愈"，您首先想做的是什么？:

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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