Two weeks ago, Praxis Precision Medicines invited TCSF to their home base in Cambridge MA to talk to them about SCN8A community and to see how they can help—not just to help better treat SCN8A, but to do so as well as possible because they understand our experiences living with it.
Our volunteers, Karen and Colleen (both members of the executive leadership committee), and Hillary (our founder and director), went to meet them—and they brought along three amazing young SCN8A advocates: their girls, Lily, Emma, and Esmé. Each of these girls represents a different part of the SCN8A spectrum—Lily, who requires complete assistance and experiences ongoing regular seizures; Emma, who can speak for herself (and the other members of her community); and Esmé, who is beginning to communicate with a talker and self-propel with a wheelchair.
Our team is always ready to educate industry partners about our community, and we are thrilled to see the dedication from Praxis to engage with our community at such a meaningful level. Thank you for having us, Praxis!
After the visit, all three families spent a beautiful day together in Boston. The people within our community are spread out all over the world. Whenever they are able to meet up, they make magic happen!
Last week, Xenon announced that they had received positive feedback from the FDA regarding the development of XEN901 that supported advancing XEN901 directly into a pediatric clinical trial examining its efficacy in pediatric patients with SCN8A epileptic encephalopathy (SCN8A-EE). This is important as most Anti-Epileptic Drugs (AEDs) have to be studied in adults before they are studied in pediatric populations.
Pilot Research Project with Children's National: Evaluating Education and Access to Expert Care for SCN8A
The Cute Syndrome Foundation is thrilled to share the awarding of a clinical research grant, originally announced at our 2018 SCN8A Clinician, Researcher, and Family Gathering, to Dr. John Schreiber and Children's National. The vision for this grant developed after the devastating loss of two infants in our SCN8A community last fall, and we are grateful to Dr. Schreiber for working with us to look for ways to improve access to expert advice in the treatment of individuals with SCN8A
The official announcement follows:
Children’s National Medical Center and The Cute Syndrome Foundation are delighted to enter a 6-month pilot research project to evaluate education and access to expert care for SCN8A. Led by Dr. John Schreiber, Neurologist and Assistant Professor of Neurology and Pediatrics at George Washington University, Children’s National will develop a focused effort to provide families and clinicians with the Clinician Information and Reference Guide—developed by The Cute Syndrome Foundation— and attempt to uncover the barriers to accessing expert advice. The study will result in a better understanding of those factors that prevent access to consensus recommendations and expert care. It will also increase provider knowledge of SCN8A-related disorders, improve utilization of appropriate anti-seizure therapies, and may eventually reduce mortality. As the first ever study of its kind, this pilot project will pave the way for future interventions that will raise the profile of SCN8A-related disorders, facilitate collaborative care and research, improve patient outcomes, and reduce mortality.
Thank you, Dr. Schreiber, for your dedication to the SCN8A community!
John Schreiber, MD, at TCSF's 2018 SCN8A Clinician, Researcher, and Family Gathering
The Cute Syndrome Foundation is announcing the departure of Juliann Bradish, PharmD, as our Co-executive Director. Juliann will be remaining on as a volunteer at TCSF, turning her focus toward the administration of our support group. Juliann began volunteering for TCSF in 2015, serving as our SCN8A Advisor. She then joined Founder Hillary Savoie, PhD, as Co-executive Director in 2017.
Juliann with her family at our 2016 SCN8A Clinician, Researcher, and Family Gathering
Hillary will remain on in her role, serving as the Founder and Director of TCSF. However, TCSF will be expanding our executive leadership team to include several long-term volunteers: Shelley Frappier, Family Support Co-Director; Karen Varner, Family Support Co-Director; Colleen Johnston, Finance Director; Maggie Nayyar, Science Director; and Megan Varner, Marketing Director. This growing administrative team will allow TCSF to continue to respond to the needs of our growing and diverse community.
Shelley Frappier, Hillary Savoie, Megan Varner, and Karen Varner at our 2018 SCN8A Clinician, Researcher, and Family Gathering in New Orleans
We are thrilled that Juliann will be remaining on the TCSF team. Juliann has been an advocate for the SCN8A community since her daughter Adeline’s diagnosis in 2014, when she started an SCN8A Support Group, which she later brought under the umbrella of TCSF. This support group is now represents 235 parents of more than 180 children with SCN8A and provides an essential sense of community for the families we serve. This group is Juliann’s original passion, and will remain her focus at TCSF as she frees up her schedule to spend more time with her husband, Josh, and four young children.
An excerpt from Juliann’s letter announcing her departure is below:
I have decided to step down from my volunteer role as Co-Executive Director of The Cute Syndrome Foundation. Working in this capacity partnering with Hillary Savoie, and alongside all of our exceptional volunteers, our amazing SCN8A families, and the wonderful SCN8A professionals has been extraordinarily fulfilling both personally and professionally...I remain committed to the The Cute Syndrome Foundation in its effort to support our SCN8A community through awareness, family support, research, and clinical endeavors. And I will continue volunteering with TCSF, however, I will transition to primarily focusing on my original passion: The SCN8A Family Support Group. I look forward to seeing what our community accomplishes in 2019!
Our volunteer team at the 2017 SCN8A Clinician, Researcher, and Family Gathering.
Thank you Juliann, for your service to TCSF! Welcome to our new executive leadership team!
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
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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.