LGMD "Entrevista em destaque"

NOME:  Denise                                  IDADE: 49

PAÍS: New Zealand

SUB-TIPO LGMD: LGMD 2A/R1 Calpain3-related

COM QUE IDADE FOI DIAGNOSTICADO:

 I was diagnosed with LGMD when I was 18 years and received a confirmed diagnosis of LGMD 2A/R1 when I was 39 years old.

QUAIS FORAM OS SEUS PRIMEIROS SINTOMAS:

My initial symptoms were difficulty with running and climbing stairs.

TEM OUTROS FAMILIARES QUE SOFREM DE LGMD:

No, I am the only family member with LGMD.

QUAIS SÃO, NA SUA OPINIÃO, OS MAIORES DESAFIOS DE VIVER COM A LGMD?:

My greatest challenges have been losing arm strength, having choices taken away and the loss of independence, and needing to rely on others for basic functions.

QUAL É A SUA MAIOR REALIZAÇÃO:

My greatest accomplishment is having two beautiful daughters (20 & 16).

COMO É QUE A LGMD O INFLUENCIOU A TORNAR-SE A PESSOA QUE É HOJE:

I am living a full life despite this condition. I continue to work full time, travel and do as much as I can. I try not to let this condition affect the things I want to achieve in life. There is always a way if you are determined enough.

O QUE É QUE QUER QUE O MUNDO SAIBA SOBRE A LGMD:

LGMD is a progressive and debilitating disease that robs you of your basic human functions. People with this condition are incredibly strong in the face of unbelievable challenges.

SE A SUA LGMD PUDESSE SER "CURADA" AMANHÃ, QUAL SERIA A PRIMEIRA COISA QUE GOSTARIA DE FAZER:

If my LGMD was cured tomorrow, I would swim at the beach!

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