LGMD "Entrevista en primer plano"

NAME:  Lisa     EDAD: 50

PAÍS:   United States of America

SUBTIPO LGMD:   UNKNOWN

A QUÉ EDAD LE DIAGNOSTICARON:

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

CUÁLES FUERON SUS PRIMEROS SÍNTOMAS:

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

¿TIENE OTROS MIEMBROS DE LA FAMILIA QUE PADEZCAN ALGODISTROFIA?

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

¿CUÁLES CREE QUE SON LOS MAYORES RETOS DE VIVIR CON LA VGMD:

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

¿CUÁL ES SU MAYOR LOGRO?

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

¿CÓMO TE HA INFLUIDO LA ALGMD PARA CONVERTIRTE EN LA PERSONA QUE ERES HOY?

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

¿QUÉ QUIERE QUE EL MUNDO SEPA SOBRE LA DGM?

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

SI SU ALGMD PUDIERA "CURARSE" MAÑANA, ¿QUÉ SERÍA LO PRIMERO QUE DESEARÍA HACER?

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