Cure for Kleefstra 5K Walk & Roll Riehen
October 11, 2017
BENEFITING: Charities Aid Foundation America (Gene Spark)
Earlier this year, the mystery behind our beautiful Shannon’s challenges and difficulties was finally revealed through advanced genetic testing as she was diagnosed with Kleefstra Syndrome (KS). KS is a rare chromosome disorder caused by either a mutation or a deletion of the EHMT1 gene and has symptoms that can include intellectual and learning disabilities, muscular hypotonicity, speech impairment, walking difficulties, GI defects, heart defects, kidney/urological defects, respiratory infections and seizures. We have been extremely lucky and blessed that Shannon’s symptoms are on the milder end of the range, but many others with KS suffer through multiple surgeries, daily pain management, feeding tubes, seizures and other extensive medically fragile comorbidities. Some have shortened life spans.
My good news is that there is a charitable foundation called GeneSpark that is funding promising research towards not only managing KS symptoms but actually reversing them. Through the assistance of their world-class Scientific Advisory Board, GeneSpark has identified three high-impact projects aimed at screening potential drug treatments for treating and reversing KS. Since the project launched last December, the team has already identified a compound that corrects deficiencies in Kleefstra brain cells. This is a very exciting discovery, and we are hoping to raise funds this year to conduct the next phase of research. To learn more about the current research, GeneSpark recently recorded a webinar, which you may view at the following link (be advised, it is quite technical, but interesting): https://vimeo.com/229644282. If we are able to close the funding gap, a treatment for KS and other intellectual disability disorders may truly be possible.
On to more exciting news, I am participating in raising funds for GeneSpark supported research. I will be kicking off my efforts with our First Annual Cure for Kleefstra 5K Walk & Roll Riehen on Sunday October 22nd, 2017 at 10.00am, starting at the Niederholzboden tram stop and walking a loop in Lange Erlen. This will be a part of a global event that will take place throughout October 2017 as families and supporters affected by Kleefstra Syndrome all over the world will walk or “roll” (wheelchair, stroller or cycle!) their way across a self-designated 5K route in their local communities, all in support of funding a drug to treat or reverse KS.
Please come out and join us on our walk! Any contribution you make, even if just in your presence, will be greatly appreciated. Feel free to share this page and invite your friends to come along as well. The more we create awareness of Kleefstra Syndrome, the closer we get to a cure.
With sincere thanks.
PS. All donations are receipted by email and are directed to the GeneSpark.org Fund at CAF America. 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 from Canadian tax payers are tax deductible and receipted by email. GeneSpark is a "doing business as" name for International KS Foundation, a Canadian registered charity with BN/Registration Number 820787992RR0001