LGMD "Spotlight Interview"

NAME:  Lisa     ALTER: 50

LAND:   United States of America

LGMD TEIL-TYP:   UNKNOWN

IN WELCHEM ALTER WURDE BEI IHNEN DIE DIAGNOSE GESTELLT?

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

WAS WAREN IHRE ERSTEN SYMPTOME?

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

HABEN SIE ANDERE FAMILIENMITGLIEDER, DIE AN LGMD LEIDEN:

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

WAS SIND FÜR SIE DIE GRÖSSTEN HERAUSFORDERUNGEN IM LEBEN MIT 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

WAS IST IHRE GRÖSSTE ERRUNGENSCHAFT:

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

WIE HAT LGMD SIE ZU DER PERSON GEMACHT, DIE SIE HEUTE SIND?

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

WAS SOLL DIE WELT ÜBER LGMD WISSEN?

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

WENN IHRE LGMD MORGEN "GEHEILT" WERDEN KÖNNTE, WAS WÄRE DAS ERSTE, WAS SIE TUN WÜRDEN?

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