TCSF's 3rd Annual SCN8A Epilepsy Clinician, Researcher, and Family Gathering in Washington, D.C.12/22/2018  In December 2017 The Cute Syndrome Foundation hosted the third annual SCN8A Epilepsy Clinician, Researcher, and Family Gathering in Washington, DC.
Over 100 guests met, including professionals working on SCN8A research and treatment and more than 75 members of our SCN8A family community, including 14 children with SCN8A. Families traveled internationally from Canada, Germany, Brazil, and New Zealand.
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 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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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.  Today a blog post on Scientific American told the story of how families affected by SCN8A mutations are coming together to help push forward research agendas for SCN8A. Several of the amazing family members and researchers working toward a better understanding of SCN8A Epilepsy are featured in the article--including TCSF's Founder and Director Hillary Savoie and her daughter Esmé:
Yet doctors sometimes come to the wrong conclusions. Hillary Savoie’s daughter Esmé was originally diagnosed with a mutation on a different gene called PCDH19. Hillary created a foundation to raise money for PCDH19 research and then learned that her daughter also has an SCN8A mutation. “She was always different from the other PCDH19 children,” says Hillary. “We just didn’t know why.” The founder and director of the Cute Syndrome Foundation has published her first short book, titled Around And Into The Unknown. Around and Into the Unknown is available as an individual e-book as well as in six-story paperback anthology from Ponies + Horses Books. The story follows her family on their journey seeking answers for her daughter's disorder. If you want to know more about the status of what is currently known about Esmé's genes--this is the place the read all about it!
Earlier this week Hillary, Mel, and Esmé traveled to Washington DC for an SCN8A conference organized by our partners Wishes for Elliott to learn more about SCN8A research. At the conference we were able to speak with a number of researchers who were new to us as well as some, like Dr. Jack Parent of the University of Michigan and Prof. Ingrid Scheffer of University of Melbourne & Florey Institute, who are active in the PCDH19 Epilepsy community.  We are thrilled to learn that Dr. Ann Poduri, who is an awardee of two research grants from The Cute Syndrome Foundation for her PCDH19 Epilepsy research at Boston Children's Hospital, is being honored by the American Academy of Neurology with the Dreifuss-Penry Epilepsy Award. Congratulations Dr. Poduri! Read more about Dr. Poduri's PCDH19 research here...
Marinus Pharmaceuticals has initiated a Phase 2 clinical study of ganaxolone as an adjunctive therapy for uncontrolled seizures in PCDH19 female pediatric epilepsy. Ganaxolone has been previously evaluated in multiple pediatric seizure disorders in children age 4 months through 15 years – with positive results on improving seizure frequencies. The most common adverse events across clinical trials are dizziness, fatigue and somnolence.
Learn more about the Phase 2 study and ganaxolone here. November is Epilepsy Awareness Month and November 9th is PCDH19 Awareness Day. You can show your support by taking a photo of yourself with a purple balloon (or wearing purple, if you prefer) and sharing it on our Facebook page: www.facebook.com/thecutesyndrome  In honor of PCDH19 Epilepsy Awareness Day on November 9th and Epilepsy Awareness Month, The Cute Syndrome has released a new PCDH19 Epilepsy Awareness Video. This video was made possible thanks to the families of the girls included in the video, Rick Guidotti of Positive Exposure who photographed the girls, and singer/songwriter Bob Warren who permitted us to use his beautiful song, Today. Please help us spread the word about PCDH19 Epilepsy and the work we are doing at TCS by sharing this video with your friends and family! This September we held our second annual Cute Syndrome Catch the Cute Cocktail Party Fundraiser. The event took place on a beautiful Sunday afternoon, with delicious farm fresh and local food prepared by Spoonful Catering and The Meat Market.  Esmé was able to visit some of the members of the Super Cute Troop in mid-August. Super Eric and Super Chloe are a brother and sister team in Canada who have celebrated their last three birthdays by asking for donations to The Cute Syndrome in place of gifts! Super Esmé was so very excited to finally get to meet them and thank them for helping us, as Eric says, "get good medication for Esmé!" Read more about Super Eric, Super Chloe, and their parents here.  |
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