Monday, December 7, 2015

Sensitive Santa 2015


Sensitive Santa was again a huge it this year. She still won't go into the room he is in, but will interact in the waiting area.  We would like to thank Saint Francis University for making this happen for the fourth year in a row.  



Christmas Hide and Go Seek!





Ava hugging Santa Video




Happy Holidays!!

Thursday, September 17, 2015

Kleefstra Awareness Day







It's the first official Kleefstra Awareness Day! 
96 families from across the world
 have shared their loved ones in this montage!

Friday, November 21, 2014

PA Resource Page has been updated

I have updated a few things and added some more resources on the page.  Check it out or if you know of a loved one with a special needs child/person,  please send them the link.  Some of this information is not widely known and can benefit the people that need it most.

Friday, May 23, 2014

Kleefstra Syndrome Videos

Faces of Kleefstra Syndrome.



From www.Kleefstrasyndrome.org:

"This presentation was compiled by Brian Foley with the help of Dr. Tjitske Kleefstra, Dr. Svetlana Yatsenko, and Prisca Middlemiss (Information Officer at Unique).  Many thanks to all of you for producing this slideshow."

Video Link here:



Interview with Dr. Kleefstra about Kleefstra Syndrome












Wednesday, May 21, 2014

Kleefstra Syndrome Community

The Kleefstra Community is stronger then ever. The amount of children and adults being diagnosed is growing rapidly and we are all finding each other through social media.  I understand when you google Kleefstra Syndrome, Ava's Blog comes up (it's been around a long time, 8 years) so I am making this post as a way for us to connect if you find yourself on here. I also have these in the side links on the right.

Kleefstra Community Forums,  operated and run by members of the community http://kleefstrasyndrome.org/    Great site to get introduced to Kleefstra syndrome, and it's characteristics, news, updates, and community.


Unique http://www.rarechromo.org/html/home.asp is another great resource tool. Their mission is too provide support, and raise awareness for people with rare chromosome disorders. 
They have a flyer on KleefstraSyndrome here:
http://www.rarechromo.org/information/Chromosome%20%209/Kleefstra%20Syndrome%20FTNW.pdf

Some medical info listed here:
http://ghr.nlm.nih.gov/condition/kleefstra-syndrome
http://wiki.ggc.usg.edu/wiki/Kleefstra_Syndrome

There are 2 pages on facebook and a support group.

Support group: https://www.facebook.com/groups/Kleefstra.Syndrome/

Public groups:  https://www.facebook.com/groups/589070181175547/

https://www.facebook.com/groups/kleefstrasyndromdeutsch/


If you are new to the syndrome,you are probably overwhelmed with the diagnosis, and everything that comes with it. You are not alone, there is a wonderful community out there, that is so friendly and supportive, you have to be a part of it to believe it.  As always you can also ask me questions on here at any time, and I will answer what I can.

Best Wishes,
Maria