LGMD “Spotlight Interview”

NAME:  Lisa     AGE: 50

COUNTRY:   United States of America

LGMD SUB-TYPE:   UNKNOWN

AT WHAT AGE WERE YOU DIAGNOSED:

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

WHAT WERE YOUR FIRST SYMPTOMS:

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

DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD:

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

WHAT DO YOU FIND TO BE THE GREATEST CHALLENGES IN LIVING WITH 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

WHAT IS YOUR GREATEST ACCOMPLISHMENT:

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

HOW HAS LGMD INFLUENCED YOU INTO BECOMING THE PERSON YOU ARE TODAY:

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

WHAT DO YOU WANT THE WORLD TO KNOW ABOUT 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

IF YOUR LGMD COULD BE “CURED” TOMORROW, WHAT WOULD BE THE FIRST THING THAT YOU WOULD WANT TO DO:

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