BENEFITING: Charities Aid Foundation America
EVENT DATE: Sep 17, 2016
Lisa Ciao wrote -
Anthony was diagnosed with Chromosome 9 deletion in 2008 after a month long hospital stay due to mania, delusions and psycosis. In the 7 years to follow, Anthony has had many cycles wherein we felt helpless and at a loss as to how to help him. June 29, 2015 we were officially diagnosed with Kleefstra Syndrome, (KS). Kleefstra syndrome is a rare genetic condition caused by a mutation or deletion of an important gene called EHMT1. Kleefstra Syndrome is rare and difficult syndrome that deals with lifelong intellectual disabilities, as well as speech impairments and various other neurological/mental and physical abnormalities (including heart defects, kidney/urological defects, respiratory infections and seizures). There are no known cases of KS kids or adults living independently – all require lifelong care and cannot function in simple tasks we often take for granted.
That’s why I’ve decided to participate in GeneSpark.org’s inaugural Annual Kleefstra Syndrome Walk-and-Roll, which is a “virtual” event and that will take place during the dates of September 17-25. Families and other supporters affected by Kleefstra Syndrome will walk or “roll” (wheelchair, stroller or cycle!) their way across a self-designated 5K (3.1 miles) route in their local communities, all in support of funding drug development efforts around treating or reversing KS. We will personally be walking the 5K route in Warminster Park, starting at the pavillion, on Saturday, September 17, 2016
GeneSpark.org is an international non-profit foundation that was founded to fund scientific research projects aimed at reversing intellectual disability, with a specific focus on Kleefstra Syndrome. The GeneSpark.org team traveled the world to meet several research teams focused on Kleefstra Syndrome and the reversal of intellectual disability. What the team learned is that much scientific progress has in fact been made with regards to understanding KS, but no one historically focused on developing a drug treatment primarily due to a lack of available funding. Through the assistance of their world-class Scientific Advisory Board, GeneSpark.org identified three distinct/high impact projects aimed at screening potential drug treatments for treating/reversing KS and embarked on a mission to raise money to get these projects funded. With approximately $350,000 raised to date, GeneSpark has begun the funding process for the critical initial phases of the projects. However, there continues to remain a funding gap in terms of what is required for these projects to be fully funded through to completion (beyond their initial phases). If we’re able to close the funding gap, a treatment may truly be possible. As an example, scientists recently reversed intellectual disability in a mouse model of another very similar syndrome using a drug treatment approach that GeneSpark.org is aiming to fund.
Please support me as I work with GeneSpark.org towards making a difference for my son, Anthony , who was diagnosed with Kleefstra Syndrome.
Here are 3 easy and simple ways to give your support today:
· DONATE to our cause by visiting my personal Kleefstra Syndrome Walk and Roll fundraising page;
· HELP ME FUNDRAISE – Join my fundraising team and set your own personal fundraising target
Simply click on the “Fundraise For This Campaign” link on my personal fundraising page, and follow the instructions
· SHARE – Click the Facebook or Twitter links on my personal fundraising page to share on your own FB and Twitter sites.
All donations made on my personal fundraising page are receipted by email and tax-deductible for US donors. We are so grateful for your friendship and thank you in advance for your support and generosity! Visit www.GeneSpark.org to learn more about this wonderful foundation.
Thank you in advance for your support of this most important endeavor.