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.  

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
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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!

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.

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!
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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.