10/16/2016

İSİM:  Annette               YAŞ: 40-50 yrs old

ÜLKE:  Ireland

LGMD Alt Tipi:   LGMD2B

 

Kaç yaşında teşhis konuldu?:

I was diagnosed at the age of 38 yrs. old

İlk belirtileriniz neydi?:

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

LGMD hastası olan başka aile üyeleriniz var mı?

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

LGMD ile yaşamanın en büyük zorluklarının ne olduğunu düşünüyorsunuz?:

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.

En büyük başarınız nedir?:

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 bugün olduğunuz kişi olmanızda sizi nasıl etkiledi?

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

Dünyanın LGMD hakkında ne bilmesini istersiniz?:

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.

LGMD hastalığınız yarın "tedavi edilebilseydi", yapmak isteyeceğiniz ilk şey ne olurdu?:

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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