Probably There Are No Adults With This Disorder

I KNOW A LITTLE BOY IN SECOND GRADE WITH THIS VERY RARE GENETIC DISORDER.  IT'S A MICRO-DELETION OF A CHROMOSOME, 28, I THINK. VERY FEW KIDS HAVE BEEN DIAGNOSED WITH THIS MASK-LIKE SYNDROME, THE FIRST BEING AN ARAB BOY  IN NABLUS PALESTINE, HENCE THE NAME.  IT WAS DISCOVERED AROUND 10 YEARS AGO ( OR MAYBE LESS, I FORGET).  SO, THE FIRST PATIENT IS STILL A KID,  SO YOU'LL PROBABLY DO BETTER AT GETTING SOMEONE TO RESPOND IF YOU PHRASE YOUR STATEMENT, "MY CHILD HAS NABLUS".  PARENTS SEEM EAGER TO BLOG & COMMUNICATE.  JUST FYI.  (BY THE WAY, I'M ON YOUR SITE & I LOVE IT!)
HARE HARE
66-70, F
2 Responses Apr 4, 2012

My child has nablus syndrome. that's true. it was two months ago that the ARRAY- CGH test have written the name of this rare disease. This condition is caused by a micro-deletion at chromosome 8q22.1. (from position 93.767.730 to position 96.432.931).
Doctors have told me that that the center of research actually is in Canada, but there is not enough medical literature to understand how to treat the disease.
I and my family are living in Italy. I would like to know if there is someone with news about it.
Tanks in advance for reply.
Ps. Sorry for my terrible english.

There are lot of older folks who are undiagnosed. But often the people who work with them and love them get a good idea of diagnoses on their own. Be persistant, you never know. I work with a few folks who have rare disabilities and am always looking to connect.