In 2019, we all left Baltimore, Maryland thinking we’d hug each other once again in 2020, but we all know what happened next…COVID-19 destroyed all plans for an in-person event in both 2020 and 2021. Although both events, virtual and hybrid, were a huge success, nothing can replace the magic of being in the same room with other families and the clinicians, researchers, and industry partners fighting for our community.
So, after three long years, TCSF’s community traveled distances near and far to attend the 8th Annual SCN8A Clinician, Researcher, and Family Gathering as an in-person event in Nashville, Tennessee! There was a very large presence of families this year and TCSF was thrilled to cover all travel and lodging costs for all 19 families that applied for the Dr. Mandy Harris Family Travel Grant program! The festivities began the afternoon of Friday, December 1st and continued until late in the afternoon on Saturday, December 2nd.
Weekend Kickoff with SCN8A 101
Families started filtering into the Renaissance Nashville Downtown Ballroom prior to the SCN8A 101 presentation. Big hugs were given and joyful tears were shed as families saw each other in person for the first time since 2019. Seeing the families united once again was a perfect way to kick off the SCN8A 101 presentation and the rest of the weekend festivities.
In 2018, Dr. Eric Wengert developed the SCN8A 101 talk for parents to better understand the science behind SCN8A. He did such a fantastic job making science feel approachable at all levels that we begged him to present year after year. Eric was also a 2021 CUTIES Award recipient for his research. He broke our hearts when he was unable to attend this year’s Gathering, BUT we had the pleasure of hearing Dr. Manoj Patel present in Eric’s absence on Friday afternoon.
Manoj is an Associate Professor in the Department of Anesthesiology at the University of Virginia and has been an integral part of our SCN8A community since the beginning. In fact, he was the very first CUTIES Award recipient for research in 2016. His passion and commitment to our SCN8A warriors is palpable when you meet him and that was most definitely the case when he presented to our families this year.
Our community is forever thankful for both of these researchers and their love for our community!
The evening began with TCSF Founder and President, Hillary Savoie, and Executive Director, Kacie Craig, both on stage. Together they reflected on how special and unique the SCN8A Annual Gathering is and how far the research and focus has come in the last decade. Both past and present TCSF leaders stood on stage as a uniting force as they set the stage for everyone in the room and virtually to leave that evening feeling rejuvenated, empowered, and energized.
Over 100 SCN8A families and patients, researchers, clinicians, and industry partners gathered together to hear clinical trial updates from our industry partners, Praxis Precision Medicines and Neurocrine Biosciences. Once again, Dr. John Schreiber hosted the Clinician Roundtable and Dr. Manoj Patel hosted the Researcher Roundtable. Each roundtable included four renowned presenters in their respective areas of expertise.
This nearly five-hour event was a true integration of our community as families asked researchers and clinicians questions after their presentations and researchers witnessed seizures and heard medical device alarms going off.
It was said best by SCN8A sibling, Daniel Sauter:
“It was so cool to be in a big room with so many other kids beeping and alarming, just like Blake does, and no one was looking around or making pity faces.”
He told his grandmother he hasn’t seen his mother, Nora Lyons, that happy and relaxed in a long time, and he’s already saving up his allowance for Orlando in 2023!
One of the most impactful moments of every Gathering is hearing from our families. This year we had the pleasure of hearing from three. Danielle Hayward spoke about her two and a half year old daughter, Lucy, and her hope for better treatments and a brighter future. Her words were profound and left everyone in tears.
Mary Tone spoke about life with her son, Billy, and his funny, innocent, naive, and loving nature (with a lot of input from Billy throughout). Billy definitely stole the show and the hearts of everyone watching!
Finally, in the spirit of the “Clinician, Researcher, and Family Gathering” we heard from SCN8A parents, Madeleine Oudin and Christopher Burge, along with their neurologist, Dr. Yuskaitis. Madeleine and Christopher's daughter Margot’s diagnosis has led them to a new area of research in their professional work as their aim is to develop novel therapies for the treatment of neurodevelopmental disorders, such as those caused by SCN8A mutations.
Hearing from these families gives researchers a face to put to the work they do. It gives clinicians more insight into the everyday lives of those living with SCN8A. Finally, it helps the families realize they are not alone; other families face the same struggles, and joys, that they do.
2022 CUTIES Award
After the first SCN8A Clinician, Researcher, and Family Gathering, held in 2015, TCSF saw a handful of individuals rising to the opportunity to work collaboratively in improving the health and safety of those living with SCN8A. As a result, we created the CUTIES, our annual awards for Champions for Understanding, Treating, Investigating, and Empowering those with SCN8A.
Typically, three awards are presented to a researcher, clinician, and family member who have gone above and beyond for our community. However, this year TCSF chose only one person—Hillary Savoie, TCSF’s Founder and Board of Directors President.
Hillary has worked tirelessly for this community since the very beginning. She is not a clinician or researcher, but she’d be worthy of an honorary degree in both. She is a mother who, in the midst of her darkest days, rose above to fight for her child and then took on the fight for all of our kids.
She made herself and the SCN8A community be seen within the epilepsy space…even when our community was fewer than 100 people, she stood tall and MADE people listen. She saw that our children deserve better and she was committed to finding people to help her fight. And she did it…she found clinicians, researchers, and multiple industry partners who now fight along our side.
Family Breakfast and Documentary
After a late night on Friday, families woke up early to re-energize with a group breakfast, coffee, and conversation. The smiles, hugs, and happy tears were still present as our “family reunion” continued throughout Saturday’s events.
As everyone finished eating breakfast, Roland Waegner, SCN8A Europe Founder and Bruno’s dad, provided the group with an overview of recent and ongoing international activities from the various European SCN8A organizations (Italy, France, UK, Spain, Portugal, and the Netherlands) and announced that the 2nd SCN8A and SCN2A European Scientific Conference would be held in the Spring of 2023 in Denmark.
Next, families settled in to watch the documentary Unseen: How We’re Failing Parent Caregivers & Why It Matters. According to filmmakers Tom and Amanda Dyer, the objectives of the film are to: 1) give an unfiltered glimpse into the lives of parent caregivers and their real challenges; 2) shed light on how difficult it can be to get support and solutions; and 3) establish strategic partnerships to enable real change. Tears were shed during the viewing of this film, as we saw ourselves as the stars of the documentary.
The isolation, depression, anxiety, anger, PTSD, and exhaustion that caregivers experience every single day oftentimes go unnoticed, even by close friends and family. This documentary sheds light on how caregivers’ struggles can often lead to poor physical health, failed relationships, and substance abuse.
This film brought up many emotions for our families as we finally felt SEEN on screen. TCSF took this opportunity to discuss the takeaways from the film, but also focus on self-care and advocating for ourselves. TCSF volunteer, advocate, and Cam’s mom, Sandy Bush, led our discussion and provided parents with a handout that focused on how to advocate for change and how to continue to survive this seemingly impossible journey by providing “Caregiver Life Hacks”.
To learn more about the Unseen documentary and why it’s needed, please visit www.caregiverdoc.com.
Nashville Style Dance Party
After an emotionally heavy morning, it was time to shake things up a bit and have some FUN!
TCSF was approached this summer by an anonymous donor about funding a fun family activity in conjunction with the Annual Gathering. With the gathering hosted in Nashville this year, it seemed only fitting to have a dance party with line dancing!
Although the moms may have enjoyed the line dancing more than anyone, the kids enjoyed the light-up toys, photo booth, delicious food, and, most importantly, time together to be themselves! It was the perfect event to end such a meaningful weekend.
Until Next Year
TCSF’s Annual Gathering creates a space for our families to not only learn more about SCN8A and the research and treatments, but to congregate in a safe space to be themselves.
Heather Crowley, TCSF volunteer and Tate’s mom, said it best:
“My family attracts attention. We travel with a wheelchair and several medical devices. Everywhere we go people stare. It’s not always in a negative way, but more often than not people are looking at us and noticing us.
Another SCN8A mom, Danielle Hayward, had this to add about her experience at her first Gathering:
“My daughter Lucy was diagnosed with SCN8A in 2020 during the height of the pandemic, so this was my first chance to attend an Annual Gathering in person. Although I’d been in touch with other SCN8A families through our Facebook support group and book club, it was such a special experience to finally meet this incredible community face to face. I had an amazing time and left feeling hopeful and renewed.”
Saying goodbye after such a joyful gathering is never easy, but the memories and the virtual support throughout the upcoming months will carry us until next year when we can once again hug one another in Orlando, Florida!
A special thanks to our Platinum Sponsors, Praxis Precision Medicines and Neurocrine Biosciences, and our Silver Sponsor, GenEp, who made this event possible.
Watch the event recording!
Photos by: Ryan Collerd