 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.”
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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.  Esmé spent several days recently with world-renowned photographer Brent Stirton, who was documenting her daily life--from therapies, to doctors visits, to tube-feeding, to playing with her grandparents--for the Novartis annual report. Not only did she have a fantastic time having her photo taken, but she's very happy to be able to help raise awareness for PCDH19 Epilepsy!   Check out our gallery of photos up at the Positive Exposure website! These are from our photo shoot last fall. http://positiveexposure.org/gallery/#ad-image-1
We are thrilled with our partnership with Positive Exposure, a not-for-profit dedicated to redefining beauty (www.postiveexposure.org). Rich Guidotti is a former high fashion photographer who founded Positive Exposure, an organization dedicated to taking photos of people with genetic differences. For more about what Positive Exposure and Rick do, check out this coverage on UpWorthy.  It may sound a bit odd, but currently one of the best hopes for finding safer, more effective treatment for PCDH19 Female Limited Epilepsy (FLE) is swimming around in a fish tank in Boston. It is a little tiny fish called a zebrafish that Dr. Annapurna Poduri of Boston Children’s Hospital is studying to help find treatments for PCDH19 FLE.
The Cute Syndrome Foundation is on board to help this research happen by committing $25,000 to support Dr. Poduri's promising research. We have an anonymous donor who has signed on for a $10,000 matching grant in honor of our first anniversary to help us raise these funds. Help us reach our goal of $25,000 for this research. Read more about the research we are helping to fund here. The Cute Syndrome, with our partners Insieme per la Ricerca PCDH19, is thrilled to announce the first internationally funded PCDH19 research grant competition funding a 100,000€/$135,000 two-year research grant. This grant has only been made possible by the tremendous generosity of our donors. When we began The Cute Syndrome almost one year ago our goals were rather modest. We wanted to contribute to the work our partners in Italy were doing funding PCDH19 research, and we wanted to help raise awareness of PCDH19 by telling Esmé's story. The support we have received over the last year has been nothing short of amazing, allowing us to exceed our initial funding goals and offer such a significant grant amount while still in our first year. Thank you for your support, and stay tuned as we will gear up for our one-year anniversary!
We had a chance to speak with WNYT News Channel 13 reporter Benita Zahn about Esmé and The Cute Syndrome. They put together a lovely story about us!
 This week we were so lucky to have Saratoga Springs, NY photographer Tracey Buyce volunteer her time to do a photo shoot with Esmé for The Cute Syndrome and our partners at TinySuperheroes. The photos are just stupendous. Tracey truly captured Esmé's spirit and her life.
Take a peek here. TCS's partners Insieme per la Ricerca PCDH19 (Together for PCDH19 Research) held their second annual PCDH19 World Conference. TCS was very pleased to attend this important event this year where we learned so much about the current research into PCDH19 happening around the world. We heard papers from leading researchers around the world at the conference and had the tremendous opportunity to speak with many of them at length about the future of PCDH19 research, potential collaborative efforts in gathering data about this disorder, and how best to maximize our results in granting funds. You can read more about the conference speakers and their papers here.
We are so grateful for the hard work our partners did to bring all of these researchers together to help our girls! We are so very proud that the hard work of our partner organization in Italy, Insieme per la ricerca PCDH19 - ONLUS, has contributed an upcoming drug trial by Marinus Pharma with a new medication: ganaxolone. This trial is the direct result of Insieme per la Ricerca PCDH19's funding of research over two years and their persistence in organizing the medical, research, and pharmaceutical community. We are so grateful for their work.
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