10/16/2016

NOME:  Annette               ETÀ: 40-50 yrs old

PAESE:  Ireland

Sottotipo LGMD:   LGMD2B

 

A che età è stata fatta la diagnosi:

I was diagnosed at the age of 38 yrs. old

Quali sono stati i primi sintomi:

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

Avete altri familiari affetti da LGMD:

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

Quali sono, secondo lei, le sfide più grandi da affrontare nella convivenza con la 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.

Qual è il suo più grande risultato:

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).

In che modo la LGMD l'ha influenzata nel diventare la persona che è oggi:

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

Cosa volete che il mondo sappia della 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.

Se la vostra LGMD potesse essere "curata" domani, quale sarebbe la prima cosa che vorreste fare?:

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

To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming LGMD Spotlight Interview, please visit our website at: https://www.lgmd-info.org/spotlight-interviews