10/16/2016

이름:  Annette               AGE: 40-50 yrs old

국가:  Ireland

LGMD 하위 유형:   LGMD2B

 

몇 살에 진단받으셨나요?:

I was diagnosed at the age of 38 yrs. old

첫 증상은 무엇이었나요?:

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

다른 가족 중에 LGMD를 앓고 있는 사람이 있나요?

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

LGMD와 함께 생활하면서 가장 어려운 점은 무엇인가요?:

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.

가장 큰 성과는 무엇인가요?:

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).

LGMD가 지금의 자신을 만드는 데 어떤 영향을 미쳤나요?

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

LGMD에 대해 전 세계에 알리고 싶은 내용:

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.

내일 LGMD가 "완치"될 수 있다면 가장 먼저 하고 싶은 일은 무엇인가요?:

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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