 The Cute Syndrome Foundation is celebrating the First International SCN8A Awareness Day on February 9th with the other family-based advocacy organizations including Ajude o Rafa and Wishes for Elliott, as well as individual families are reaching out to share the story of the grave impacts of this newly identified epilepsy. For more information about SCN8A Awareness Day visit: www.scn8aawarenessday.net
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 Play is a constant that still remains ever-changing, reinvented daily by kids and limited only by their boundless imaginations. But there is an artificial line between kids and adults when it comes to play. PLAE's goal is to erase that line and harness the power of play for everyone—starting with shredding the notion of age limits, of growing up, of losing that spirit of joy. On our journey, we start by asking ourselves, and the world, "Do you still PLAE?"
Every pair of PLAE shoes has been hand-crafted by a team of workers, with many pairs of hands adding their special touch to each pair that arrives at your door. Want to make it easier for TCSF to speed up the process of researching the SCN8A gene? Use checkout code GIVE494 every time you shop and we’ll donate 10% of your PLAE purchase price to The Cute Syndrome Foundation (TCSF). Shop now to earn a donation.
The Cute Syndrome Foundation held our second annual SCN8A Epilepsy Research, Clinician, and Family Gathering on Friday December 2nd, in conjunction with the American Epilepsy Society Conference in Houston Texas. For the second year in a row we hosted over 100 SCN8A clinicians, researchers, and family members for an event built around sharing clinical information, research data, and family stories -- and the idea that these three groups can work together and help inform each other.
In January 2016, as a collaborative effort with our Brazilian partners, Ajude o Rafa, The Cute Syndrome Foundation awarded $25,000 the 2016 SCN8A Epilepsy Research Grant to Dr Miriam Meisler of The University of Michigan.  On December 5th in Philadelphia about 85 guests--including seven children with SCN8A, 35 family members, and over 50 researchers and clinicians--met for the Cute Syndrome's first SCN8A Epilepsy Clinician, Researcher, and Family Gathering. The meeting allowed parents of children with SCN8A to tell leading researchers and clinicians more about their children and their lives. The meeting also served as a venue for clinical data about effective treatment of SCN8A to be shared among clinicians, and for researchers to share their research with the families--and each other.
 The founder and director of the Cute Syndrome Foundation has published her second short book, titled Whoosh. Whoosh tells the story of a medical emergency that Esmé experienced at 3 months old. Read a short excerpt from the book here.
There is fantastic news for the treatment of PCDH19 Epilepsy. The University of Adelaide reports on the work of Prof. Josef Gecz, whose PCDH19 research has been supported with the help of our partner organization, Insieme per la Ricerca PCDH19 (Together for PCDH19 Research) in Italy. We are grateful that our partners recognized the potential for a promising drug treatment in Prof. Gecz's work and put their resources toward supporting him.
From the press release: An international team, led by a University of Adelaide genetics expert, has made a breakthrough discovery which is expected to help thousands of young girls worldwide who are suffering from a rare yet debilitating form of epilepsy. Professor Jozef Gecz, from the University of Adelaide’s Robinson Research Institute, was a key player in identifying the responsible gene and mutations in this female-only epileptic syndrome, in 2008. In breakthrough research published in Oxford Journals, Human Molecular Genetics, Professor Gecz has now found a treatment for this disorder. A United States pharmaceutical company Marinus Pharmaceuticals is now recruiting affected girls as part of the world’s first clinical trial to test the therapy. Insieme per la Ricerca PCDH19 and The Cute Syndrome Foundation are thrilled to announce that we have awarded a $20,000 grant to Dr. Jack Parent of the University of Michigan for his research using PCDH19 iPS cells. Dr Parent was a runner-up for our 2014 PCDH19 research grant (awarded to Dr. Maria Passafaro) and we are thrilled to support his research. It is our aim in 2015 to continue to support the most promising research proposals we received last year.
Hillary Savoie's writing was featured on Motherlode, the New York Time parenting blog. In her post on June 28th she reveals some wonderful news about her daughter Esmé: Esmé can read. Check out the post here: http://parenting.blogs.nytimes.com/2015/06/28/esme-can-read
Hillary's writing also has recently appeared on The Mighty and Complex Child Magazine. |
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The Cute Syndrome is registered as a tax-exempt organization under IRS section 501(c)(3).
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