You have all been the foot steps of our journey with Kleefstra. So many have shared our laughs, tears, joys and anger over the years. Today, I ask your feet to take a few more steps in helping fund the researchers develop the cure. A couple months ago we flew to Boston and met with researchers from around the world for this purpose. GeneSpark.org, an international non-profit foundation, and created by another Kleefstra family is raising money to fund scientific research projects aimed at advancing a drug treatment for Kleefstra syndrome (KS). KS is a rare genetic condition caused by a mutation or deletion of the EHMT1 gene. KS patients have intellectual disabilities, speech impairments and various other neurological and physical abnormalities, including walking difficulties, heart defects, kidney/urological defects, respiratory infections and seizures. There is no treatment today, however, scientists do know enough to begin working towards developing a drug. Funding is the biggest hurdle and, as such, your donation and support can put a treatment within reach. What you do know is that Kleefstra is rare. What you don't know is that they believe that there are 1000's more children adults yet to be diagnosed or born with Kleefstra. Although we wouldn't dream of changing our perfect Nev, we would give her the intellectual ability to advance and not become catatonic after puberty.
September 17-25, 2016, GeneSpark.org will host its first annual virtual "Walk-and-Roll". Families 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 across the world. Proceeds raised will go towards developing a drug to treat KS.
We accept tax-deductible donations from U.S. taxpayers through our partnership with Charities Aid Foundation America (CAF America), an independent U.S. registered charity (registration number 43-1634280). All donations are receipted by email and are directed to the GeneSpark.org Fund at CAF America.
This is a great time of the year for company and corporate donations. What a great reason to write off! Help us BEAT our goal.