Intervista a riflettori accesi sulla LGMD

NAME:  Lisa     ETÀ: 50

PAESE:   United States of America

SOTTOTIPO LGMD:   UNKNOWN

A CHE ETÀ LE È STATA DIAGNOSTICATA:

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

QUALI SONO STATI I PRIMI SINTOMI:

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

HA ALTRI FAMILIARI AFFETTI DA LGMD:

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

QUALI SONO, SECONDO LEI, LE MAGGIORI SFIDE NEL VIVERE CON LA 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 È IL SUO PIÙ GRANDE RISULTATO:

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

IN CHE MODO LA LGMD L'HA INFLUENZATA NEL DIVENTARE LA PERSONA CHE È OGGI:

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

COSA VUOLE CHE IL MONDO SAPPIA DELLA 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 LA VOSTRA LGM POTESSE ESSERE "CURATA" DOMANI, QUALE SAREBBE LA PRIMA COSA CHE VORRESTE FARE:

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