BENEFITING: Charities Aid Foundation America
ORGANIZER: Gwen Kris
EVENT DATE: Sep 17, 2016
Gwen Kris Clapp wrote -
Sydney is a beautiful, vibrant, 6 year old girl that has faced challenges her whole life, and no one could tell us why until recently. She was diagnosed with autism at 15 months old, but we felt that there had to be another diagnosis out there. After baffling 6 different geneticists for 6 years, we finally have the answer, Kleefstra Syndrome.
Kleefstra Syndrome is rare genetic condition caused by a mutation or a deletion in the EHMT1 gene on Chromosome 9. People tell us that we are fortunate that she seems to be mildly effected, but what they do not understand is the devastating future that may lie ahead for Sydney. With Sydney’s type of EHMT1 mutation, research has shown it to be neurodegenerative in adolescents. Currently Sydney can run, speak in 10 word sentences, knows 50+ sight words, is close to reading, can write and is in mainstream kindergarten. All of these achievements, which come naturally to most children, are for Sydney a daily struggle and celebration. She has acquired these skills with great effort and 40+ hours of therapy a week, for years. One would not know she has a serious underlying condition that threatens to take her future away, and she may revert to being a toddler or worse become so difficult to deal with requiring institutionalization.
What gives me hope as a parent is the work of Dr. Kleefstra, her research has shown in fruit flies that the condition is stoppable and possibly reversible given the right drug compound. So, once again I am told I must wait for the science to catch up. But Sydney does not have time on her side. She is 6 and adolescents is around the corner, making time of the essence.
GeneSpark.org has been founded by other parents of children with Kleefstra Syndrome and together we are taking on the fight to save our children in this race against time. Science is on the brink of a discovery to treat Kleefstra but given that this is a rare syndrome, with less than 300 people known worldwide, funding sources are very limited, unless we raise the money. GeneSpark has proposals from top medical institutions standing by, just waiting for funding to find the treatment for Kleefstra Syndrome. The hope is that there is already a drug compound out there that exists, allowing for rapid drug trials for the treatment of Kleefstra. Please help us by donating to GeneSpark.org, so that we may give our children the future that they deserve.
For every $2500 raised Sydney will post a new dance. Thank you in advance for helping Sydney do what she loves for many years to come.
Donations are directed to GeneSpark.org through CAF America, who will provide an email tax receipt for donations.