LGMD "Entrevista em destaque"

NAME:  Lisa     IDADE: 50

PAÍS:   United States of America

SUB-TIPO LGMD:   UNKNOWN

COM QUE IDADE FOI DIAGNOSTICADO:

I was diagnosed with LGMD when I was 45 after decades of misdiagnosis

QUAIS FORAM OS SEUS PRIMEIROS SINTOMAS:

My initial symptoms were stiff and numb feeling muscles. But I was an athlete so normal strength test didn’t show weakness. Breathing and cardio were always a struggle too

TEM OUTROS FAMILIARES QUE SOFREM DE LGMD:

My sister and nephew have same mutation but extremely mild symptoms so far ( younger).  Kids are being tested now

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

Greatest challenges are simple things. Stepping up a curb or lifting groceries and grandbabies.  Getting up from a chair, especially at restaurants etc These seem small but they effect me every day

QUAL É A SUA MAIOR REALIZAÇÃO:

My greatest accomplishment will always be my kids. My youngest is 12. My biggest fear is not being there for him the way I have been for the rest

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

Difficult question. I try not to let it change me but it does anyway.  I am certainly more aware of challenges people face. Not just my own and not just physically.  I am not a person who likes to depend on others.  I am slowly having to figure out how to accept help without being discouraged

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

That it still exists.  That it comes in many forms and there is still no treatment.  I pray daily that gene therapy will be fast tracked

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 take my kids to Ireland ( I am Irish).   I would then get back to flipping houses which I love and can no longer do