Help us continue to support the SCN8A community through events like this Gathering.
A week ago today the SCN8A community started arriving in Baltimore, Maryland in order to take part in the fifth annual Cute Syndrome Foundation SCN8A Clinician, Researcher, and Family Gathering. This event, which is held over two days every year in conjunction with the American Epilepsy Society meeting, began as a way to bring together all of the stakeholders within the SCN8A community, including the families. We hold this event because we believe in the power of SCN8A families to not only observing, but actively participating in driving the changes in medical science to help our children. This year, with 265 people registered for this event, it was, by far, our largest Gathering to date.
Bringing Together The Entire SCN8A Community
Our main event occurs on Friday evening, during which time we hear from medical professionals on the current state of expert care and scientific discovery in SCN8A. The evening also includes stories from families on the issues around life with SCN8A in which they are experts. One of the most remarkable things about this meeting is that families have always brought their children...certainly, in many cases, out of necessity. This year, our children settled in the back of the room, playing on the floor, calling out, the sounds of their toys echoing through the room on occasion.
It is important that they be there, because they, too, are there to speak for their community, in whatever ways they can. And the impact of their presence is felt, because year after year we hear from the researchers about the impact that meeting the families has on their work—helping them bring life to their bench research.
“I sat down and looked around at a room filled with an array of different kinds of people- moms, dads, grandparents, SCN8A children, volunteers, clinicians and researchers. Some of these people are complete strangers, as I do not know them personally, but the sense of community was absolutely palpable. We truly are #StrongerTogether." Kacie Craig, TCSF volunteer
A Focus on Full Family Participation
At the two-day event, TCSF also offers a series of learning sessions for the families in attendance. Historically, these sessions revolve around practical issues pertaining to life with SCN8A. However, since TCSF is so invested in creating lines of communication between the medical professionals and the family community, last year we began an SCN8A Science Education session--led by a neuroscience research assistant . This year we held it in the hours prior to our main event, in order to help the families with a pre-conference crash course on what they needed to know to follow along during the medical professional presentations.
In 70 person group of families we learned about action potentials and neuronal excitability--and then had the opportunity to ask any questions we might have. The level of discussion was really impressive. And all of that 101 session, together with a number of other resources from the event--including a key word finder, presentation slides, information on the speakers, and, soon, videos of the presentations--are all available on our family-portal.
For some families Day 2 began bright and early with one-on-one meetings with Michael Hammer PhD (University of Arizona) and Dr. Katrine Johannesen (Danish Epilepsy Centre). That morning we all gathered for a family photo sporting our TCSF shirts and some in our SCN8A leggings. The sea of purple was captured beautifully thanks to Philadelphia-based photographer Ryan Collerd, who has documented our SCN8A community since our first Gathering in Philadelphia in 2015.
Following the photo, families gathered into a more intimate space for family-focused sessions. We offered a session on Zogenix-supported research regarding the effects of living with a sibling with special needs, which was followed by a siblings-only breakout session. Tracy Dixon-Salazar, from the Lennox-Gastaut Syndrome Foundation, spoke about the effects of Caregiver Stress. And SCN8A parents Kacie Craig, Shelley Frappier, and Hillary Savoie spoke about Augmentative and Alternative Communication devices. TCSF also piloted a patient-centered discussion session, based on a similar method used by the Dravet Syndrome Foundation at their family meetings, in order to document caregiver priorities and feedback on the services they need from TCSF
“The siblings discussion was new this year. I was excited and appreciated this talk and my son felt special having something this weekend that was just for him. Although SCN8A is the reason we are connected I loved meeting people from all over the world! The conversations and encounters with everyone we met truly made this weekend so special to me and my family. Just wish we had more time.” Jen Costello TCSF Volunteer
A family-fun dinner outing rounded out the end of our event. Every detail was planned perfectly for our night out on the town by TCSF leadership team member and volunteer Karen Varner. We enjoyed a brisk walk in downtown Baltimore and gathered at a local restaurant. Our meals were pre-ordered in advance to expedite eating in such a large group. Music and laughter filled the air while we drank and enjoyed a meal together. It was a nice time to relax, unwind and chat with one another.
Why We Do This
Families come to this gathering for a variety of reasons whether it is to educate themselves, connect with others, heal or gain support. Parents of children with SCN8A find themselves often feeling isolated and afraid. The annual TCSF gathering reminds us that we are not alone, in fact, there are hundreds of medical professionals fighting for our children. At the Gathering we are able to be in an environment where not only do parents have an opportunity to learn what research is taking place and what pharmaceuticals are on the horizon, but to do so while sitting next to the people completing the work! Parents are not only included in conversations, but are encouraged to ask questions and be involved.
“This was my third time attending and I’ve realized that my soul needs this event to survive the year. For 48 hours, I’m surrounded by parents that truly understand my life, which made it even harder to leave them after the family dinner Saturday evening- many tears were shed. On my way back home, I stepped off the airplane and immediately felt the weight of the world fall back onto my shoulders as the event was now over, but I reminded myself that I’m not alone and we will be together again.” Kacie Craig, TCSF volunteer
Such an event would not be possible without the extraordinary volunteers who poured many dedicated hours into this event and the 2019 generous event sponsors including our Title Sponsor: Xenon Pharmaceuticals Inc. as well as Praxis Precision Medicines, Greenwich Biosciences, Zogenix, Gene Dx. This year we also added our first Gold-level Charity Sponsory: Clayton’s Crusade. Clayton’s Crusade is organized by two TCSF volunteers, Megan and Jacob Guard. Their son, Clayton, is a SCN8A warrior and together they raised enough funds to be a sponsor for this year’s gathering - what an accomplishment!
As we reflected after the event, it was summed up best by TCSF volunteer, Roland Waegner, “Only 51 weeks left till the Seattle gathering! Can’t wait!”
Written by Kacie Craig and Jennifer Lano Costello. Stay tuned for more posts about experiences at the Fifth Annual TCSF SCN8A Gathering!
Help us continue to support the SCN8A community through events like this Gathering.
In partnership with The Cute Syndrome Foundation, John M. Schreiber, MD from Children's National Hospital is collecting survey data from health care providers. The survey is intended to assess comfort in ordering and interpreting genetic testing and knowledge among medical professionals about SCN8A-related epilepsy, preferred treatments, and SUDEP risk. This research will help direct future education initiatives. Click the button below for access to the survey (Medical Professionals only, please).
There is a also a free informational webinar given by Dr. Schreiber geared towards clinicians that will provide an overview of genetic evaluation in patients with refractory epilepsy with particular attention to SCN8A. This is being held by Global Genes from 1-2 pm EST on Wednesday, October 2. Please click on the following button to register. The password to access the webinar, when available is TCSF2019.
This webinar will provide a brief overview of genetic evaluation in refractory epilepsy and specific examples of how a positive test may influence management. SCN8A-related epilepsy will be discussed in detail, with attention to epilepsy phenotype, diagnostic testing, associated co-morbidities including sudden unexpected death in epilepsy, and treatment.
Our SCN8A Annual Clinician, Researcher, and Family Gathering will be held in conjunction with the American Epilepsy Society Conference on December 6-7, 2019 at the Renaissance Harborplace Hotel in Baltimore Maryland. If you are a Medical Professional who would like to join the meeting or the caregiver of a child with SCN8A, please email Shelley Frappier for information about joining the event.
The 2019 SCN8A Research Roundtable took place in Chapel Hill, North Carolina in July. This event brought together a select group of key SCN8A professionals for an intensive strategic planning meeting. Over a day and a half of meetings, participants focused on the state of SCN8A research, collaborate on grant efforts, and outlined next steps necessary to translate the scientific understanding of SCN8A into improved treatments and outcomes for individuals living with SCN8A. We believe the collaborative work between family advocacy groups, clinicians, researchers, and industry partners in driving research forward is key.
This year a very special team will be walking at the Walk to End Epilepsy hosted by Epilepsy Foundation of Metropolitan New York: Luke's Walk for Epilepsy.
Luke is one of the approximately 350 children in the world known to have SCN8A-related epilepsy--and his family is so eager to help find better treatment for Luke and the other children with SCN8A mutations. As a result, the Epilepsy Foundation of Metropolitan New York has generously agreed to donate half of the money Luke's team raises to The Cute Syndrome Foundation in support of SCN8A.
Can you help them reach their goal of $50,000?
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.
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 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
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.