10/16/2016

NOM:  Annette               AGE: 40-50 yrs old

PAYS:  Ireland

LGMD Sous-type:   LGMD2B

 

À quel âge avez-vous été diagnostiqué ?:

I was diagnosed at the age of 38 yrs. old

Quels ont été vos premiers symptômes ?:

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

Avez-vous d'autres membres de votre famille atteints de LGMD ?

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

Quels sont, selon vous, les plus grands défis à relever pour vivre avec le LGMD ?:

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.

Quelle est votre plus grande réussite ?:

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).

Comment le LGMD vous a-t-il influencé pour que vous deveniez la personne que vous êtes aujourd'hui ?

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

Que voulez-vous que le monde sache sur le LGMD ?:

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.

Si votre LGMD pouvait être "guérie" demain, quelle serait la première chose que vous souhaiteriez faire ?:

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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