BENEFITING: Charities Aid Foundation America
ORGANIZER: Brandon and Kendra
EVENT DATE: Sep 17, 2016
Brandon Isaak wrote -
As you may or may not know, our daughter, Abigail, was diagnosed with Kleefstra Syndrome (KS) at about three weeks of age last October. Kleefstra Syndrome is rare and difficult syndrome that deals 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.
This all came as a complete shock to Kendra and I since the doctors had no idea Abby had any issues before birth. In fact, we didn't know about KS at first; we simply knew it was hard for our baby to breath and eat on her own. We spent three weeks in the NICU at Georgetown Hospital where we first found out she had a heart defect called Tetralogy of Fallot, meaning there was a hole between her right and left ventricles. "Was" is the keyword here!!! With coordination from Dr Doroshow, Abby had the best doctor in the world for cardiac pediatric surgery at Children's National Hospital, Dr Richard Jonus. He literally wrote the book on it (https://amzn.com/0340808071). The surgery went perfectly in December, and Abby's heart is looking great.
Lets rewind the clock a little bit back to October 2015. After three weeks in the hospital with little sleep, Abby is doing well enough to go home, but not before we get her genetics testing results. The day before we go home, we learned she had a microdeletion on her ninth chromosome. "Well, at least that's not a whole deletion or a duplication," I thought. Kleefstra Syndrome is so rare, even our geneticist didn't have good advice on what her outcome in life would be. To make matters even more uncertain, Abby has genetic information missing from both the P and Q arm of her 9th chromosome, making half her chromosome into a ring, which is so rare, only about 20 other people have it in the world. (We didn't know this until much later).
Since the surgery, we've connected with other KS families and worked with DC Strong Start to get Abby Physical and Occupational Therapy. One of the side effects of KS is hypotonia, which means she doesn't have good muscle tone. Abby's making progress, but she is months behind on her development.
But there is hope that things might change big time for Abby! And I'm talking about reversing the effects of KS, not just managing them.
Kendra and I found GeneSpark.org, which 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.
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. Kendra, Abby, and I will be walking The Mall in Washington, DC, from the Capitol to the Jefferson Memorial on September 17th, 2016.
Here are 3 easy and simple ways to give your support today:
· DONATE to our cause here on 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 and follow the instructions
· SHARE – Click the Facebook or Twitter links 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.