Thursday, October 9, 2014
Wednesday, September 17, 2014
Today is KLEEFSTRA AWARENESS DAY!!!
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 www.kleefstrasyndrome.org
Help Ava and I Raise Awareness for Kleefstra Syndrome. Please Share this blog post!
Posted by Maria at 8:16 AM
Wednesday, September 3, 2014
First day of her new school was last week. I was worried about all the new changes, but so far she is doing great. She has been so vocal the past month, and signing a lot more. I can't wait to see what the future holds for her and us.
Getting her back to school hair cut. No Problem!
Waiting patiently for the bus.
I said, blow me a kiss!! And she did this lol
Hanging out in a sensory swing.
Posted by Maria at 10:21 AM
Saturday, July 12, 2014
So this summer has been a busy one. Ava has been going to Autism camp, and extended school year. She has her good days and her bad days. Transitioning, ANY transitioning is extremely difficult for the most part. We are just taking it a day at a time, it's all we can do. Every day is different and we never know how it's gonna go. Today after alternating between building blocks and you tube videos all day. Her dad and I said enough and we put her on the bike. It was a little rough til we got her strapped in and going, then she settled down and got to work. She pedaled around 2 miles and at one point, I left her pedal by herself and I had to RUN to keep up with her!
Here is a cute collage from last week, she was being so silly!!!
Posted by Maria at 9:45 PM
Saturday, June 21, 2014
It's freaking hard, it's never ending, it's frustrating, lonely, no one ever understands until they are in this position. You wonder at the injustice of it all, your child REALLY NEEDS the help and you are given the run around, time after time. People are rude, agencies don't talk to each other, the paperwork is daunting. On top of dealing with a child with special needs, you are caring for your other children, running a household, trying to have some sense of normalcy, but a huge part of your day is advocating for your child. You want to scream, punch something hard and throw in the towel. BUT you don't, you look at your child and you will continue to fight for what they and YOU need. The help and the resources are out there, but most of the information is not given freely. You have to research, ask questions, make contacts, make people angry if you have to.
Find it, Use it, Go after it,
and SHARE it.
The thousands of phone calls, meetings, papers, will get you somewhere. DO NOT GIVE UP. In doing what you are doing, you are not only helping yourself and child, but anyone else also in your situation. It's hard I understand, I am only in year 8 of this journey, but I continue to learn, be educated, empower myself. YOU CAN DO THIS. If you have a support system to help you along the way, awesome. If you don't, Be your own cheerleader!! Make a poster, make a mantra, do whatever you have to do to keep going.
You will find "Your People". The ones willing to go the extra mile, to give you a quick phone call about something, they just learned about. The ones to call and check up on you and your child to make sure there isn't something they can help you with. There are people out there willing to help, but you have to find them first.
Having a special needs child, has it's unique share of challenges, most harder then what they should be. By having
dedication and perseverance you just may find what you are searching for.
And give your kiddos extra hugs and smooches, they are what matter and worth the fight!!
Best Wishes in your endeavors!
Posted by Maria at 10:15 AM
Monday, June 2, 2014
This week is rare chromosome disorder week. As most of you know Ava has Kleefstra Syndrome and is 1 of only around 300 diagnosed worldwide. Her condition is very rare, and we don't know what the future holds for her, so we celebrate every day that we have. Most days are good, we do have some bad, but we still feel blessed to have her the way she is. She brings us so much joy and she lives life at her own pace, enjoying every day.
Posted by Maria at 2:14 PM
Friday, May 23, 2014
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
Video Link: http://vimeo.com/53870668
Posted by Maria at 3:05 PM