BENEFITING: Charities Aid Foundation America
Most of you know our sweet Karlie. She is an amazing, loving,silly, energetic, sassy 11 year old. She will take your hand & give you a hug whether your someone she's just met or someone she's known her whole life. She loves to play catch, listen to music, swim, jump on the trampoline & dance while watching one of her favorite movies, Pitch Perfect or High school Musical. She looks on the outside like your typical 11 year girl but she's more than that she's part of a unique group of kids( around 300 known) born with a little missing piece. That piece comes from her 9th chromosome & leaves her with a diagnosis of Kleefstra syndrome (KS). Karlies life started out like that of any typical baby she nwas born on time with a healthy weight the only notable health issue being the need for tubes in her ears at 6 months old. As we watched grow we noticed she was not hitting her milestones. At 6 months old she could neither rollover or sit on her own there was also no attempt to hold her own bottle. We then started to seek help to get answers for her delays. Our early visits with the neurologist came with many different diagnosis. After being told she had cerebral palsy, low muscle tone or possibly autism we were sent to see a geneticist for testing. That's when we received her official diagnosis of KS. There was a lot of work & therapy ahead of us to help her make as much progress as possible . We are very proud of the progress she has made she is now able to walk completely on her own & has been able to navigate the stairs to enable her to ride the bus without the use of her wheel chair. She still has goals we are trying to accomplish especially in the communication area. She once had a vocabulary of about 20-25,words then she started to regress around the age of 6 & lost the ability to speak most of them. Weve been pretty lucky her health has been pretty good until she began to have extreme anxiety last year that caused her to go days without sleeping & made Day to day life extremely hard for her. Another recent development for her was the onset of seizures. She has had 3 in the last 9 months. We were able to put her on medication for both & they are under control for now. We've recently learned that there is hope for the future of kids like Karlie thanks to an organization known as genespark.org Please read below more about KS& the organization that is trying to find treatment for some of the symptoms associated with it. Kleefstra syndrome is a rare genetic condition in which a tiny piece is missing from near the end of one of the body’s 46 chromosomes. The missing piece includes a gene called EHMT1. Its absence is believed to cause the major symptoms of the syndrome. Those with this Diagnosis suffer from sever physical & cognitive disabilities. Some are also afflicted with various other health concerns one major one being seizures. As mentioned earlier one of the biggest issues for those diagnosed with KS is cognitive impairment also known as intellectual disability (ID). Some of the parents of these KS kids got together & formed a group known as genespark.org. GeneSpark.org is now the only global charity worldwide that is focused directly on the advancement of drug treatments for reversible Intellectual Disability (ID) disorders. ID disorders or syndromes (formerly known as “mental retardation”) affect about 1% to 3% of the western population; in the U.S. alone, this would represent up to almost 10 million people. GeneSpark.org has placed an initial focus on KS. Our GeneSpark.org team has traveled the world to meet several research teams focused on KS and the reversal of intellectual disability. We have already identified several projects aimed at developing a drug treatment and have assembled a world-class Scientific Advisory Board with over 100 collective years of field experience at the top institutions in the world, such as M.I.T., to help guide our research efforts and help evaluate/target the most promising research projects. GeneSpark’s Scientific Advisory Board believes that a drug treatment for KS and potentially other genetically-linked intellectual disorders is within our reach… our goal is to move to clinical human trials not only “within our lifetime,” but perhaps within the next three to five years. Your contribution of any amount can help launch key research projects to find a drug treatment that will lessen or reverse the effects of ID, and enable our daughter Karlie, and other children and adults living with KS and hopefully other related genetically-linked IDs, enhance their ability to understand, speak and communicate… and ultimately live fuller, richer, more independent lives. GeneSpark.org has set an ambitious initial fundraising campaign goal of $1MM to start the first research project in 2016. GeneSpark.org is currently in the process of evaluating various research projects including: (i) mouse testing of one or two already identified lead chemical compounds (drug candidates); (ii) comprehensive screening of chemical compound library in order to identify additional lead compounds for further testing in animal models; (iii) new RNA‐based/gene editing technologies. We would like to ask you to please help further the progress by doing any of the following donating, sharing our story & fundraising page or visiting genespark.org to learn more about this cause. All donations are tax deductible for U.S. Taxpayers & go straight to genespark.org. Thank you for being a part of our journey with Karlie & for caring about a very special little girl.