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.

Wednesday, September 17, 2014



 Ava is one of only an estimated 400 diagnosed cases in the WORLD!!  As the technology grows to diagnose Kleefstra, the numbers are rising. We need to get awareness out there, so that the information is out there to help those that need it.   For the past eight years, I have always educated and advocated everywhere Ava went. She is always a first case scenario and I have to take 2-3 binders full of paperwork to every first time appts that she has to make sure the Drs, therapists, etc know what Kleefstra Syndrome is. 

I have also written Ava's Blog for the past 8 years.  It has been a labor of love, pouring into it everything about Ava and Kleefstra Syndrome.  There have been a few times where I thought I would stop it, but then someone always contacts me and tells me how much Ava's Blog has helped them, so I keep at it.  

To learn more about Kleefstra Syndrome and how it affects lives go to

Help Ava and I Raise Awareness for Kleefstra Syndrome. Please Share this blog post! 

Friday, May 23, 2014

Kleefstra Syndrome Videos

Faces of Kleefstra Syndrome.


"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    Great site to get introduced to Kleefstra syndrome, and it's characteristics, news, updates, and community.

Unique 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:

Some medical info listed here:

There are 2 pages on facebook and a support group.

Support group:

Public groups:

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,

Friday, November 15, 2013

2013 Gift Guide for Special Needs Children

This year I thought I would do a small toy gift guide for special needs children. These are just from my own opinion and some of them we have, had, or I plan on getting for Ava. Most of these are sensory and cognitive toys, with a little bit of practicality thrown in. Every Christmas Ava has gotten therapy toys, and they have always been a big hit.  This year will be no different.  Hope this gives you some different ideas for the upcoming holiday season!  

2013  Gift Guide for Special Needs Children

Click on the pictures to be taken to for more information on the products.

Set of 3 Assorted Tangle Jr. Fidget Toys - 

Fuzzy, Metallic and Textured

Toys to keep your child busy, comes in lots of styles and colors.

Mega Bloks Big Building Bag, 80-Piece (Classic)

Building blocks that are big and easy to sort and stack. Light up your child’s imagination with these blocks. They will be using fine motor skills and cognitive thinking while they play.

Learning Resources Jumbo Farm Counters

Sort by colors, or animals, and learn to count!

Little Tikes Clearly Sports Bowling

These look so cool!  Your child will be using their hand eye coordination to knock them down and also their stacking abilities to put them to rights again.  They also have colorful balls in them for visual and auditory senses.

All In Toy's Liquid Motion Bubbler Fidget

A visual stimulation toy, that should grab the attention, 
at least for a little while.

Fisher-Price The Farmer Says See 'n Say

This reminds me of the old classic!  Music, sounds, and animals makes for a lot of ways to interact with your child.

Abilitations Biggie Frog Bean Bags 

For the child that loves to throw things, do it with a fun flare!

Sensory Seeker Combo Pack

For the sensory seeking children, and with a variety of toys, you child is sure to find a favorite one.

Fisher-Price Laugh & Learn: Learning Piggy Bank

This was a favorite in our house for many, many years! Sorting, counting and music gave us a lot of fun interactions!

Learning Resources Ruff's House

 Teaching Tactile Set

Play with the puppy while learning, 
textures, counting, and colors.

Gonge Riverstones

A fun way to incorporate balance and coordination.

Learning Resources Talk Board (Set Of 3)

Draw or place a picture on the board, 
and then record what it is. 
Can be used in a wide variety of ways.

Lacing & Tracing Dinosaurs

These fun dinosaurs give you 
several ways to teach fine motor skills.

Fold & Go Trampoline

Work your child's muscles, while they are having fun.

Edushape Baby Connects, Set of 12

These are fun little toys that teach colors, counting, shapes, great for fine motor skills!

Isokinetics Inc. Brand Exercise Ball - Anti-Burst - 3 Sizes - Choice of Color - For Fitness, Therapy, Sports Training, Yoga and More

We have had exercise balls in the house for the last 10 years. Great way to get your child to work on core muscles, balance, coordination and much more!

Stocking Stuffers!!!!

Nuk Brush

Great for oral motor stimulation!!

Tactile Tiger Hand Fidget

Sensory Stimulation brush

Mecanaids Adapted Scissors 

with Easy Grip for Right or Left Hand

Great for just learning how to cut, they spring back to aid in fine motor skills.

DenTrust 3-Sided Toothbrush ::

 Specialty Toothbrush for AUTISM & Special Needs

Practical and brilliant!  Sometimes I only have a couple tries to get them done before she has a complete melt down.

Some books for the caregivers.

Always trying to expand my horizons and learn what I can, because no one else will take care of her like I do.  It's always nice to see how other parents do things and get a new perspective!


There are a lot of great toys out there
 for special needs/sensory children.
 I know you can find 
something that is fun and educational too!
Happy Holidays!!