Saturday, July 12, 2014

Perfect Day

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!!!




Saturday, June 21, 2014

Parents: Don't Give up!!

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!

Monday, June 2, 2014

Rare chromosome Disorder Awareness Week June 2- 8

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.



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










Saturday, February 15, 2014

Update post Feb 2014

It has been a little while since I have posted!  We are finally moved in, and are still adjusting to life in the new house. Ava has gone through some behavior changes that made life a bit of challenge lately.  We had her to see another specialist who added a small dose of Risperdal to her daily routine. I may say the changes have been a Godsend. After months of dealing with a very aggressive and angry child, she is back to a loving and mellow child. We hated to have her put on anything, but I really think she likes to be happy and not angry all the time. Her communication skills are still improving, which is making us very happy also. 


My little girl also is now 8!! I cannot believe how fast time is flying.  A friend of ours made this shirt for her birthday, I designed the front and she added the back <3


It says " Special Needs? 
Nope, just 
SPECIAL.  
Kleefstra Syndrome " 


Sweet Little Ava


Here she is on her birthday, sick! We had to cancel her party, but we still ate the cake!




A happy Girl <3



This was a find at Big Lots. Her very own "real" guitar. Never would I have thought a year ago that she would be playing one, but yet here she is going to town on it. 
 She continues to amaze me, and even though we have had our rough patches lately, I feel the best is yet to come.  

Here is to 2014!!

Friday, January 3, 2014

Christmas Miracles

This Christmas, Ava was given the gift of a new Amtryke. It was given by Ambucs of Altoona and a very special family and little girl, Leah, who sponsored Ava. 
We are very humbled by the generosity of everyone, who made this dream come true for our Ava.  Our family was invited to the Christmas dinner, which was so nice, we got to see Santa, and met some of the most amazing people. 
Thank you, Thank you, Thank you!

 I cannot forget to thank Kara for she is the one that sets the wheels in motion for all of this. <3



 The new ride.

 Santa secrets.
 Leah and Santa <3

.. and getting ready to go home.

Thank you again everyone and we hope you all had a 
Merry Christmas and a fabulous New Year to come!