TCSF's Fifth Annual SCN8A Clinician, Researcher, and Family Gathering

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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!

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