On November 30 and December 1st The Cute Syndrome Foundation held our fourth annual SCN8A Clinician, Researcher, and Family Gathering, in conjunction with the American Epilepsy Society meeting in New Orleans, LA. We were joined by more than 100 medical professionals, industry representatives, and family members as we presented two days of important activities—including discussions of SCN8A research, forthcoming potential therapeutics, and parent/patient perspective.
This event would not be possible without our stellar volunteer team that headed up the efforts this year, our generous 2018 event sponsors Praxis Precision Medicines, Xenon Pharmaceuticals Inc., Zogenix, Greenwich Biosciences, and the Epilepsy Foundation. Thank you as well to our event co-chairs Manoj Patel, PhD and John Schreiber, MD. With their help, we all gathered around our shared goal of improving the lives of individuals with SCN8A mutations. For those of you who couldn’t be there with us, we would like to offer some takeaway points and several highlights from the Gathering.
First, we'd like to introduce you to our event keynote speaker, 15 year old Emma Johnston and our official SCN8A Youth Ambassador and Patient Advocate. Emma set exactly the right tone for the Gathering--reminding us all exactly why we were there: to help those with SCN8A. Emma asked to speak at the Gathering because she knew that so many children with SCN8A cannot speak--and that she wanted to be a voice for them at our Gathering. There is no one better to speak on behalf of those with SCN8A, than someone with SCN8A.
1. CONNECTIONS: The idea behind this Gathering is to provide an opportunity for clinicians, researchers, and families--each a type of expert in their own right--to share knowledge together in ways that can inform their decisions moving forward in support of the SCN8A community. As ever, these interactions yielded some amazing results.
2. DISCUSSIONS: At the conclusion of the Gathering, one of our volunteers said, "They aren't leaving!" She was right, all around the large room were clusters of parents, clinicians, and researchers talking about SCN8A, asking each other questions, and making plans! We love to see this kind of enthusiasm!
3. INFORMED HOPE: With two biopharmaceutical companies at the Gathering presenting their potential therapeutics for the community, our community is feeling more hopeful than ever. We are also well-positioned to understand what it means for a community to look toward at clinical trials--and the path to get a therapeutic to market.
4. SUBTLETY: We saw a number of presentations of research that is digging into the important distinctions between mutation variants within the gene as well as the potential for multi-gene involvement. This will lead to a clearer understanding of SCN8A mutations and their potential treatments.
5. INTEREST IN OUR COMMUNITY: This year we had more sponsors than ever, supporting at higher levels than ever. This shows that there is a strong interest in the work we are doing through this annual meeting and, in general, in the SCN8A Community
At the gathering we also honored two important individuals in the SCN8A community who are rising to the opportunity to work collaboratively to improve the health and safety of those living with SCN8A with CUTIES, our annual awards for Champions for Understanding, Treating, Investigating, and Empowering those with SCN8A.
Our first recipient is JP Johnson, Jr., PhD of Xenon Pharmaceuticals Inc. JP has been a champion in Investigating SCN8A for many years now. We selected him for the award because of his focus on not only pursuing a high level of excellence in scientific research, but also in helping the families in our SCN8A community understand that science.
Our second recipient is SCN8A family member, TCSF Volunteer and SCN8A Mom, Dianely Cabrera. Dianely, was one of our very first volunteers at the Cute Syndrome Foundation. She is raising one of the more fragile children in our community, and her son has faced an unbearable number of hospital stays this year. However, as ever, she trucked along, completing tasks from his bedside in the PICU. We are proud to celebrate Dianely for her amazing ability to turn the extreme challenges her son faces into an advocate’s focus!
Congratulations JP and Dianely!
In the weeks leading up to this years Gathering we lost two infants to complications resulting from their SCN8A mutations. These losses have made it painfully clear to us as a community that clinical care for children with SCN8A needs to improve, and we need more clinicians to be active in our community, more clinicians to collaborate with Dr. Schreiber in his efforts to serve as a consulting physicians on SCN8A cases, more clinicians to talk to their colleagues about how to treat (and how not to treat) individuals with SCN8A.
So, this year, instead of awarding a clinician's CUTIES, we have issued a call to clinicians: Make this CUTIES yours next year.
The most important take away from this gathering of the SCN8A community was the truth that was reflected in the faces of the families in attendance this year: We are #SCN8AStrong. We will continue to work hard, and we will not let go of hope for all of our children.
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.
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
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.
TCSF's 2nd Annual SCN8A Epilepsy Clinician, Researcher, and Family Gathering on Friday December 2nd, in conjunction with the American Epilepsy Society Conference in Houston Texas
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.
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.