LGMD "Spotlight Interview" (en anglais)

NAME:  Lisa     AGE : 50

PAYS :   United States of America

SOUS-TYPE LGMD:   UNKNOWN

À QUEL ÂGE AVEZ-VOUS ÉTÉ DIAGNOSTIQUÉ ?

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

QUELS ONT ÉTÉ VOS PREMIERS SYMPTÔMES :

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

AVEZ-VOUS D'AUTRES MEMBRES DE VOTRE FAMILLE QUI SONT ATTEINTS DE LA LGMD :

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

QUELS SONT, SELON VOUS, LES PLUS GRANDS DÉFIS À RELEVER POUR VIVRE AVEC 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

QUELLE EST VOTRE PLUS GRANDE RÉALISATION :

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

COMMENT LA LGMD VOUS A-T-ELLE INFLUENCÉ POUR QUE VOUS DEVENIEZ LA PERSONNE QUE VOUS ÊTES AUJOURD'HUI :

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

QUE VOULEZ-VOUS QUE LE MONDE SACHE À PROPOS DE LA 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

SI VOTRE LGMD POUVAIT ÊTRE "GUÉRIE" DEMAIN, QUELLE SERAIT LA PREMIÈRE CHOSE QUE VOUS VOUDRIEZ FAIRE :

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