Click here to listen to the YouTube Video of Brent Knight singing "AVERY ROSE"! 

The Continuing Mission for CDKL5.....

Description: Rett syndrome is an X-linked neurological disorder, and 1 of only 4 diseases that occurs almost exclusively in girls. And although it is genetic, it is not hereditary, so parents have no idea their infant has this syndrome until between 6-18 months of age, when she unexplainably plateaus in development or suffers a devastating regression, leading to severe lifelong motor apraxia affecting speech, hand use, mobility and even the ability to eat or breathe easily for the rest of her long life. A child is born with Rett syndrome approximately every 2 hours. The work of the IRSF is to accelerate current groundbreaking research that is making experts believe that Rett syndrome may be the first neurologic disorder to be reversed at any age, and may be the Rosetta Stone to fighting monumental diseases like Alzheimer's, Parkinson's, autism, and more. And while IRSF funds research grants and important research symposia to bring this Research to Reality, we also provide critical support and information to the families supporting their daughters with Rett syndrome every day. Most of the research funding and family support provided by the foundation comes from fundraisers large and small held by parents and friends. The Vivint Gives Back grant will make a significant difference to the mission of the IRSF. Thank you for your vote, and thank you for believing we can improve the future for our girls. Your vote is our Hope!


Team Avery THANKS YOU as you support CDKL5!


Avery Rose.....What a CUTIE!!

Imagine that you are the parent of a little girl who suffers from a very rare disease. A disease soo rare that there is no cure. Every day you watch your little one suffer from seizures...she can't walk, talk or crawl or use her hands. Her development into a little girl is being limited by this horrible disease.

¸¸.•*¨*•!!!!•*¨*•.¸¸! Wouldn't you do anything and EVERYHING in your power to help her? ¸¸.•*¨*•!!!!•*¨*•.¸¸!

Young Avery Rose
has been diagnosed with a very rare genetic mutation of CDKL5 to which there is very little knowledge, awareness and funding for a cure. She is pleased that YOU believe in hope for a cure!!!!!

Avery's dad is one of the Managers at Bill's Seafood in Westbrook CT.  If you have every frequented Bill's - Then you know the camaraderie of the staff and customers!  CDKL5 funding for research will give these girls HOPE for a better tomorrow!

Bill's is doing all they can to raise awareness for CDKL5 and is proud that CDKL5 and TEAM AVERY WON a $50,000 grant towards research Thanks to the Pepsi Refresh Everything project!!!

Thank You for being a part of TEAM AVERY! 

 Donations may be made to aid in the awareness and research of CDKL5. 
Checks should be made payable to 
MCCF Avery’s Fund and mailed to:
Middlesex County Community Foundation
211 South Main Street
Middletown, CT 06457

phone 860-347-0025 •
The Avery Fund is in conjunction with Middlesex County Community Foundation is a Non-Profit 501-C #06-1477711
Thanks for being visitor number ~ webpage tracking stats !
~*~ Follow Avery Rose's Journey in the news! ~*~ 
Old Saybrook raises $30,000 for Avery ~ Summer 2011 THE DAY
Middlesex County  Community Foundation ~ Fall 2010 Newsletter
A plea to help Avery Rose and others like her - deadline this month
WVIT 30 - Lemonade to Help Avery
Statewide: Refresh For Avery The Only CDKL5 in Connecticut
Lemonade for Avery to fund research for rare disease

What is CDKL5 ?
"CDKL5 is a rare X-linked genetic disorder that results in early onset, difficult to control seizures, and severe neuro-developmental impairment. There are fewer than 200 cases worldwide, however, more and more children are being diagnosed as awareness of CDKL5 spreads.
CDKL5 stands for cyclin-dependent kinase-like 5, and is located on the X chromosome. .....The CDKL5 gene provides instructions for making a protein that is essential for normal brain development. Although little is known about the protein's function, it may play a role in regulating the activity of other genes, including the MECP2 gene (of Rett Syndrome). The CDKL5 protein acts as a kinase, which is an enzyme that changes the activity of other proteins by adding oxygen and phosphate atoms (a phosphate group) at specific positions. Researchers have not yet determined which proteins are targeted by the CDKL5 protein.
Most children affected by CDKL5 suffer from seizures that begin in the first few months of life. Most cannot walk, talk or feed themselves, and many are confined wheelchairs, dependent on others for everything. Many also suffer with scoliosis, visual impairment, sensory issues and various gastrointestinal difficulties (please refer to the FAQ's regarding signs and symptoms of CDKL5).
CDKL5 mutations have been found in children diagnosed with Infantile Spasms, West Syndrome, Lennox-Gastaut, Rett Syndrome, and Autism. However, it is important to note that scientists and doctors do not know what causes CDKL5 mutations, or the full spectrum of CDKL5 disorders at this time. It is likely that there are many people affected by CDKL5 who have mild symptoms and no seizures. With continued research and awareness of CDKL5, we hope to build a more comprehensive understanding of the spectrum of this disorder, and begin the search for a desperately needed cure.

Now I can sit here and find CDKL5 links all over the internet - or you can Google it yourself.  I am hoping I have given you enough information to care about this tragic disease.... (But here are links to site where you can find more information! 
Click here to donate to CDKL5!
~ FAQ ~ 
CDKL5 on Wikipedia
CDKL5 Genetics Reference
CDKL5 on Facebook 

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Updated 03/20/2014 ~ 11:11:11