Friends & Family -
As you may know, our 5 1/2 year old daughter, Brianna, was recently diagnosed with a rare genetic condition called Kleefstra Syndrome (KS). KS is characterized by intellectual disabilities, often accompanied by a spectrum of complex physical and clinical features. There isn't a one-size-fits-all description of KS because there are a wide range of symptoms, and an even wider range in the severity of those symptoms. With only 500 diagnosed cases globally, KS is recognized as a very rare genetic syndrome.
For us, we noticed typical childhood milestones not being met around 12 months. Over the course of the next 4 years, we made countless visits to nearly every Pediatric Specialist in the area, but were unable to get a diagnosis. We had started to come to terms with the idea that we may never really know why she was falling behind, but decided to make one final effort earlier this year, selecting to participate in Advanced Genetic Testing. The Geneticist team contacted us in April of 2018 and let us know she had officially been diagnosed with Kleefstra Syndrome. Answers were great, but that doesn't take away from the pain of realizing that Brianna's path may be a different, more difficult one. Obviously following this news, we went to work doing whatever we could to learn more about her condition, get the right doctors in place, and advance her therapy regimen. We recently had the opportunity to attend a conference in Boston with Dr. Kleefstra herself and a Scientific Advisory Team (made up of MIT & Harvard Professors) focused specifically on research & developing treatment options for those with KS. The news hasn't been easy, and her future is completely unknown, but we are confident that she will continue to grow, progress, and hold a special spot in society as an adult one day.
One extremely important mission for us is to start raising as much money as possible for K.I.D.S. IQ Project, a charitable foundation that has been making strong progress towards gene therapy & drug treatment options for Kleefstra Syndrome. Please join us by participating or donating to our Kleefstra Syndrome Walk on October 7th, 2018 at 9:00am. This will be a short, one mile walk along the walking trail at Black Hoof Park in Lenexa, KS. Juice and donuts will be provided afterwards, along with the release of purple and white balloons to celebrate Brianna and all the others who suffer from Kleefstra Syndrome. Please register to join us in the walk. If you can't join us, please consider donating. Any amount is so very helpful to this cause that is so near and dear to our hearts. 100% of contributions will go to research to assist those with Kleefstra Syndrome.