LGMD "Spotlight Röportajı"

NAME:  Lisa     YAŞ: 50

ÜLKE:   United States of America

LGMD ALT TİPİ:   UNKNOWN

KAÇ YAŞINDA TEŞHIS KONULDU?

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

İLK BELIRTILERINIZ NEYDI?

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

LGMD HASTASI OLAN BAŞKA AILE ÜYELERINIZ VAR MI?

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

LGMD İLE YAŞARKEN KARŞILAŞTIĞINIZ EN BÜYÜK ZORLUKLARIN NELER OLDUĞUNU DÜŞÜNÜYORSUNUZ:

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

EN BÜYÜK BAŞARINIZ NEDIR?

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

LGMD BUGÜN OLDUĞUNUZ KIŞI OLMANIZDA SIZI NASIL ETKILEDI?

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

DÜNYANIN LGMD HAKKINDA NE BİLMESİNİ İSTİYORSUNUZ?

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

LGMD HASTALIĞINIZ YARIN "TEDAVİ" EDİLEBİLECEK OLSA, YAPMAK İSTEYECEĞİNİZ İLK ŞEY NE OLURDU?

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