<![CDATA[The Cute Syndrome Foundation: SCN8A Support, Awareness, and Research - Blog]]>Wed, 15 Apr 2026 03:00:25 -0400Weebly<![CDATA[A New Chapter for The Cute Syndrome Foundation]]>Sun, 15 Mar 2026 20:00:00 GMThttps://www.thecutesyndrome.com/blog/a-new-chapter-for-the-cute-syndrome-foundationBy Hillary Savoie
Founder and Board President of The Cute Syndrome Foundation
Dear SCN8A Community,

​More than thirteen years ago, my daughter Esmé’s medical journey brought our family into the rare disease community and inspired me to establish The Cute Syndrome Foundation. What began as a personal effort to seek answers and connect with other families has grown into a global community dedicated to advancing research, supporting families, and building hope for those impacted by SCN8A.

Our progress as an organization has always depended on individuals who bring not only their personal connection to SCN8A, but also their professional expertise and commitment to advancing our mission. The strength of The Cute Syndrome Foundation comes from the people in this community who answer the call to contribute when it matters most. When it came time for me to step back from day-to-day leadership responsibilities, Kacie Craig’s experience and history with the foundation made her a natural choice to guide this community through its next phase.
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Left: Hillary Savoie with daughter Esmé Right: Kacie Craig pictured with daughter Stella
Today, I want to share the next step in the leadership transition for the organization.
As of April 1, Kacie is stepping away from the Executive Director role of The Cute Syndrome Foundation. On behalf of the Board of Directors, I want to extend our heartfelt thanks to Kacie for her service as Executive Director over the past 4 years. During her tenure, Kacie made a transformative impact on how we support families living with SCN8A. She launched the Connor James Smith Patient Assistance Grant and expanded opportunities for social-emotional support and connection across our community. These efforts reflect an important part of our mission: ensuring families have meaningful support not only through research progress, but also while navigating the real and immediate challenges of living with SCN8A.

Although Kacie will no longer be the Executive Director, I am grateful that she will continue to support the foundation as a volunteer. Her commitment to SCN8A families remains as strong as ever, and she will remain part of this community and the work that we do.

Looking ahead, I am pleased to share that Danielle Hayward will be serving as Interim Executive Director of The Cute Syndrome Foundation.
While many families know Danielle as Lucy’s mom, over the past several years, she has also become an integral part of the foundation’s leadership. Since joining The Cute Syndrome Foundation’s Executive Committee in 2023 as Director of Development & Communications, Danielle has helped strengthen the organization’s fundraising and communications efforts and contributed to several of the foundation’s core programs. Danielle holds a Bachelor of Science in Business Administration and brings more than thirteen years of professional experience in marketing, communications, and nonprofit development roles. Her work and volunteer history includes expertise in partnership development, event coordination, project management, and community engagement, which will support the foundation’s growth.
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Danielle with daughter Lucy (2020-2023)

Danielle understands both sides of this work: the professional structure required to grow a strong and sustainable organization, and the deeply personal reasons families come to The Cute Syndrome Foundation seeking connection and support. That combination is essential to the future of the foundation.

Leadership transitions offer a moment to reflect on how far we have come and how many people it takes to move this work forward. The volunteers who serve this organization are truly its backbone, allowing us to plan carefully for leadership continuity and ensure the foundation remains strong for the future. I am grateful to Kacie for her leadership and the care and commitment she brought to this role. I am also excited to welcome Danielle as we begin this next chapter.

From the beginning, this organization has grown because of the dedication, expertise, and generosity of families, clinicians, researchers, and advocates who share a commitment to improving the lives of individuals affected by SCN8A and their caregivers. I am grateful to work alongside this remarkable community and look forward to the progress we will continue to make together.

With gratitude,
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Hillary Savoie, PhD
Founder & Board President
The Cute Syndrome Foundation
]]><![CDATA[Connecting, Learning, and Celebrating: Highlights from the 2025 SCN8A Annual Gathering Weekend]]>Sun, 01 Feb 2026 05:00:00 GMThttps://www.thecutesyndrome.com/blog/connecting-learning-and-celebrating-highlights-from-the-2025-scn8a-annual-gathering-weekendThe 2025 SCN8A Annual Gathering, held in Atlanta, GA, was a powerful reminder of what makes this community so extraordinary. Families, clinicians, researchers, and industry partners came together not only to learn but to connect, celebrate, and support one another through shared experiences and a common purpose.

​This year marked our largest Gathering yet, with 180 SCN8A family members and professionals in attendance.
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SCN8A families posing together at the 2025 SCN8A Annual Gathering in Atlanta, GA.

A Warm Welcome

The weekend began with a joyful and heartfelt welcome. Families were greeted by familiar faces, TCSF t-shirts, swag bags, and charming TCSF stuffed animals. These thoughtful touches helped set the tone from the start. This time was intentionally designed to feel warm, inclusive, and centered around families.

​Opening remarks from TCSF leadership acknowledged the strength and dedication of the SCN8A community. Volunteers, staff, clinicians, researchers, and caregivers were honored for the vital roles they play in supporting families across the globe.

The message was clear and deeply felt: no family is alone, and every story matters.

The Power of Connection

One of the most meaningful aspects of the Gathering was the opportunity for families to meet face-to-face. These conversations, sometimes emotional and sometimes joyful, created immediate bonds and a deep sense of belonging.
“It was our first year following the diagnosis in October. It is very comforting to meet others who have endured this process longer and hear the stories of strength and resilience,” shared one parent.

Learning Together

Education remained a central focus throughout the weekend.
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Friday afternoon featured an approachable and empowering SCN8A education session led by scientist Raquel Miralles, PhD. Families gained a clearer understanding of SCN8A, current research efforts, and emerging treatment possibilities, and left with both knowledge and hope.

​Friday evening brought exciting scientific updates from the scientific community, including progress in precision medicine and gene-based editing. These advances were made even more meaningful through powerful and vulnerable family stories shared by Sherress Bowen, Iveri’s mom, and Katie and Averley Banks, Wyatt’s mom and sister, who spoke openly about the difficult challenges of SCN8A while also sharing moments of joy.

A Major Milestone: Research Grants Program

A major highlight of the evening was the announcement of the SCN8A Research Grants Program, a global collaboration among:
  • The Cute Syndrome Foundation
  • International SCN8A Alliance
  • SCN8A Nederland
  • SCN8A Spain
  • SCN8A UK & Ireland
Together, these organizations are committed to funding innovative research, addressing critical gaps, and accelerating progress for the global SCN8A community.

Learn more about the program at scn8agrants.org.

Honoring Impact: The 2025 CUTIES Awards

The Gathering concluded Friday with one of its most celebratory moments, the presentation of the 2025 CUTIES Awards, recognizing individuals whose dedication has made a profound impact:
  • Family Award: Karen Varner, for her unwavering advocacy and support of SCN8A families.
  • Clinician Award: Dr. Ethan Goldberg, for his compassionate care and commitment to improving lives.
  • Researcher Award: Dr. Elena Gardella, for her groundbreaking research and continued contributions to advancing SCN8A understanding and treatment.
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Reflection, Support, and Honest Conversations

The connection and learning continued into Saturday with a series of meaningful and impactful sessions.

TCSF hosted its first Bereaved Parent Breakfast, creating a dedicated and compassionate space for families who have lost a child to SCN8A.

​Families also participated in a Scientific Recap and Q&A led by Raquel Miralles, PhD, doctoral student Joshua Hack, and PhD candidate Caeley Reever, which provided an opportunity to revisit key insights in a way that felt accessible and digestible.
“I really loved the science recap. The science is so important, but understanding it can be overwhelming,” shared one parent.
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Parent Panels

Two powerful panels created space for open dialogue and shared learning:
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More Than Just Seizures: Safety, Adaptation, and Family Strength
This panel and discussion highlighted how families navigate safety concerns, adapt daily routines, and build resilience beyond seizure management.

Making Impossible Decisions
This deeply moving panel explored the emotional weight of caring for a medically complex child. Parents spoke candidly about balancing complex medical decisions with comfort, quality of life, and the instinct to protect their children.
“The parent panels with open Q&A were also amazing. I think the families really benefited from the open dialogue and learning from one another,” shared another parent.

Ending with Joy

After a day of learning and heartfelt conversations, families gathered for a Cute Connections meetup at the Georgia Aquarium, offering a chance to relax, connect, and simply enjoy time together.

A Community Like No Other

The 2025 Gathering beautifully captured what makes this community so special: the intersection of science and love, education and empathy, resilience and hope.

​Families left feeling supported, informed, and deeply connected, knowing they are part of a global network working tirelessly to improve the lives of those living with SCN8A.
VIEW MORE PHOTOS
Photos by: Ryan Collerd
www.ryancollerd.com
A special thanks to our sponsors who made this event possible:

Platinum Sponsors
Neurocine Biosciences and Praxis Precision Medicines

Bronze Sponsor
​Lundbeck
]]><![CDATA[Uniting a Global Community: Highlights from the SCN2A & SCN8A International Conference]]>Wed, 06 Aug 2025 00:55:44 GMThttps://www.thecutesyndrome.com/blog/uniting-a-global-community-highlights-from-the-scn2a-scn8a-international-conferenceBy Kacie Craig
​Executive Director, The Cute Syndrome Foundation
In May of this year, I had the honor of representing The Cute Syndrome Foundation at the Third International SCN2A & SCN8A Conference and Family Gathering in Bonn, Germany. This unique event brought together 130 attendees—clinicians, researchers, industry partners, and families—from over 20 countries, all united by a shared mission: to better understand, treat, and support individuals affected by SCN2A and SCN8A-related disorders.
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Organized by SCN2A Germany, SCN2A Italia, and SCN8A Italia, and led scientifically by Drs. Walid Fazeli and Elena Gardella, the conference struck a powerful balance between scientific rigor and deep community connection.
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Since its pilot launch in 2021, this international joint SCN2A-SCN8A conference has become a model of successful cross-border collaboration between two closely related genetic epilepsy communities. By bringing together families, clinicians, researchers, and industry leaders from around the globe, the event fosters a truly worldwide effort to accelerate understanding and improve care for individuals living with SCN2A and SCN8A.
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Attending this conference was incredibly meaningful—not only as a representative of The Cute Syndrome Foundation, but also as a parent of a child with SCN8A. I had the chance to reconnect with familiar faces and finally meet others I’ve only known through social media or Zoom. These moments of in-person connection reminded me—yet again—just how powerful it is to be in a room full of people walking similar paths. I was able to celebrate alongside a family whose child had just come out of the PICU, and later sat in a tearful, heartfelt conversation with a newly bereaved family I had first met at the last international conference. These are the kinds of connections that stay with you. They remind us why we keep showing up, advocating, researching, and supporting one another—because no one should feel alone in this journey.
I was also honored to share a presentation titled “Empowering Caregivers: Perspectives on Supporting Medically Fragile Children.” I spoke about the joys, challenges, and realities of raising a child with SCN8A, and emphasized the essential role of palliative care in supporting families as they navigate complex medical needs.
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It was especially inspiring to witness the continued global leadership of the Dianalund group in Denmark, led by Drs. Elena Gardella and Rikke Møller. Their work remains foundational to our understanding of SCN8A. They currently lead the largest SCN8A Natural History Study, with data collected from more than 800 patients across hospitals worldwide. This monumental effort is not only a scientific achievement; it’s a critical step toward the development of meaningful, effective treatments.

Being part of this international gathering reaffirmed the strength, passion, and hope that drive our community forward. At The Cute Syndrome Foundation, we remain committed to supporting families, advancing research, and building a world in which every child affected by SCN8A and SCN2A has the care and opportunities they deserve.
]]><![CDATA[A Decade of Progress: Highlights from the 10th Annual SCN8A Gathering]]>Tue, 25 Mar 2025 01:09:02 GMThttps://www.thecutesyndrome.com/blog/a-decade-of-progress-highlights-from-the-10th-annual-scn8a-gatheringThe Cute Syndrome Foundation’s 10th Annual SCN8A Clinician, Researcher, and Family Gathering was a powerful and inspiring event, bringing together families, researchers, and clinicians to foster connection, education, and hope. Held in Los Angeles, CA, this milestone gathering not only celebrated a decade of progress but also reinforced our collective commitment to improving the lives of those affected by SCN8A-related disorders.
The Cute Syndrome Foundation volunteers smiling and posing together at the 10th Annual SCN8A Gathering
TCSF Volunteers pose together outside the Westin Bonaventure Hotel.

Pre-Gathering Education and Connection

The event kicked off with an engaging Family Meet & Greet and Education Session, where families had the chance to connect with one another, learn about the weekend’s agenda, and hear from key leaders in the SCN8A community. Executive Director Kacie Craig and TCSF Founder Hillary Savoie set the stage by reflecting on the foundation’s journey and highlighting the incredible progress made over the years.

​Attendees then participated in informative sessions including SCN8A 101 with Dr. Manoj Patel and Understanding Treatment Strategies for SCN8A-Related Disorders with Dr. Madeleine Oudin. This educational foundation allowed families to gain a deeper understanding of SCN8A and the ongoing research aimed at improving treatment options.​

Highlights from the Gathering

WATCH THE EVENT RECORDING
The main event brought together over 120 dedicated attendees, including families, researchers, and industry partners for an evening of impactful discussions and presentations. Key highlights included:
  • Family Perspectives: Andrew Bush and Olivier Frappier, siblings of SCN8A warriors, shared their heartfelt experiences, offering a unique insight into the journey of having a sibling with SCN8A. Additionally, Tonya Baboneau, mother of SCN8A warrior Natasha, provided a powerful and emotional perspective on the challenges and triumphs of caregiving, sharing her journey and offering insights into the daily realities, struggles, and unwavering love that come with being an SCN8A caregiver.
  • Groundbreaking Research: Leading professionals presented on key SCN8A topics including natural history studies, sleep disorders, and emerging treatment strategies.
  • Industry Insights: Dr. Brian Pfister from Praxis Precision Medicines delivered a compelling presentation on Relutrigine and its potential to revolutionize treatment for SCN8A.
  • Honoring Our Angels: A moving tribute led by Ethan Ramirez, brother of SCN8A angel Will, honored the 71 SCN8A patients in our community who have passed, reminding us of the urgency of our mission.
The evening concluded with the much-anticipated CUTIES Awards, recognizing individuals who have gone above and beyond in supporting the SCN8A community.

2024 CUTIES Award Winners

Each year, the CUTIES Awards honor Champions for Understanding, Treating, Investigating, and Empowering those with SCN8A. This year’s recipients included:
  • Family Award: Kelly Johnston, honored for her tireless advocacy and support within the SCN8A community.
  • Clinician Award: Dr. Roberto Previtali, celebrated for his dedication to SCN8A research and clinical care, particularly in loss-of-function phenotypes.
  • Researcher Award: Dr. Dennis Lal, recognized for his groundbreaking work in neurogenetics and his commitment to advancing personalized medicine for SCN8A patients.
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Post-Gathering Education and Family Activities

  • Comfort Dogs: Families started the day with the support of therapy dogs from Lend A Paw, providing comfort and companionship.
  • Scientific and Industry Panels: Experts from Citizen Health, Praxis, Neurocrine, and TCSF’s own Hillary Savoie shared updates on research and clinical trials.​
VIEW THE INDUSTRY PANEL RECORDING
  • Music Therapy & Video Games: Families engaged in interactive activities tailored to both children and parents to reinforce the importance of creativity and play in our community.
  • Breakout Sessions: Specialized discussions covered topics such as anxiety management, behavioral challenges, and a dedicated dads’ support group.
  • Storytelling Workshop: Hosted by Kara Ryska of The Special Needs Mom Podcast, this session empowered families to share their journeys and advocate for change.

A Decade of Progress, A Future of Hope

As the 10th Annual Gathering came to a close, Executive Director Kacie Craig emphasized the importance of continued collaboration, research, and community support. This event was not just about reflecting on the past 10 years; it was about propelling forward, fueled by the connections made and the knowledge shared.
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To every family, clinician, researcher, and industry partner who attended, thank you for being part of this journey. Together, we will continue to push for advancements in treatment, care, and awareness, ensuring that every SCN8A warrior has the best chance at a brighter future.
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Until next year, we move forward with hope, resilience, and an unwavering commitment to our community.
VIEW MORE PHOTOS
Photos by: Ryan Collerd
www.ryancollerd.com
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A special thanks to our Platinum Sponsors who made this event possible:
]]><![CDATA[Layla: Festival of Mark Making (Part 2)]]>Sat, 25 Jan 2025 02:24:52 GMThttps://www.thecutesyndrome.com/blog/layla-festival-of-mark-making-part-2The SCN8A community is one that unfortunately suffers devastating losses on a regular basis. In part two of this two-part series, TCSF volunteer Karen Varner shares her experience attending the Festival of Mark Making event that was held on what would have been Layla’s second birthday. View part one here.

Layla: The Festival of Mark Making, Mark II

By Karen Varner, Lily’s Mom and Volunteer, The Cute Syndrome Foundation
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In September 2024, The Cute Syndrome Foundation collaborated with SCN8A Australia for a special event—Layla: The Festival of Mark Making. It was created to honor the memory of Layla Al-Badri Loucopoulos on what would have been her 2nd birthday. Mark-making is defined as having an important effect on something. Having lived only a short time, Layla still left her mark on all who cared for and loved her, and now this event is her legacy. This year, the event expanded in scope to include works celebrating Layla and submissions representing the entire SCN8A community.
Many of those affected by SCN8A are nonverbal so they are unable to share their thoughts, their dreams, or their desires. This event, however, gave all of them a voice through art. There were over 80 participants from all over the world. Some were battling SCN8A, others were siblings or parents, and sadly some had lost their battle with SCN8A. To say I was blown away by their amazing artwork is an understatement. These artists truly made their voices heard and the sound was deafening!
Some people see individuals with special needs as unable to contribute to society, but they are so wrong. My daughter is nonverbal, confined to a wheelchair, and unable to grasp a paintbrush, marker, or crayon due to spasticity, but she was able to create artwork with her eyes using an eye gaze device. She has left her mark on so many lives over the years.
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I was honored to attend the opening celebration in person and share the mission of The Cute Syndrome Foundation with the Australian SCN8A community and their numerous supporters.  The event began with a beautiful “Welcome to Country” by Craig Madden of the Eora Nation, followed by my favorite speakers, Ashleigh Kelly and her mom Jo Anne Kelly. Ashleigh, like my daughter Lily, uses an eye gaze device as she is nonverbal, and she used this device to give a special welcome to everyone at the event. However, the highlight of this event was having the opportunity to meet up with four other SCN8A families! We may communicate frequently on social media, but there is nothing like meeting in person and giving physical hugs. It felt like a family reunion. 
It was truly an honor to be a part of this event, to work with Layla’s dad and founder of SCN8A Australia, Costa Loucopoulos, and to see his and Ghaith Al-Badri’s vision come to reality.  

Karen Varner
Volunteer, The Cute Syndrome Foundation

The Cute Syndrome Foundation is honored to have been able to support the vision of Costa and Ghaith in remembering Layla and providing a meaningful vehicle through which individuals impacted by SCN8A are able to express their voices via various artistic media. 
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View part one here.
]]><![CDATA[Layla: Festival of Mark Making (Part 1)]]>Sat, 25 Jan 2025 01:53:38 GMThttps://www.thecutesyndrome.com/blog/layla-festival-of-mark-making-part-1The SCN8A community is one that unfortunately suffers devastating losses on a regular basis. In part one of this two-part series, Costa and Ghaith share with us the story of their daughter, Layla. 

Layla’s Story

​By Costa Loucopoulos and Ghaith Al-Badri, Layla’s Dads, SCN8A Australia
Note: The following story is a visceral and emotional depiction of medical trauma and child loss.
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Layla, our daughter, is no longer with us because SCN8A took her life. We could never have imagined how horrible it must have been for her to endure the challenges of the disease, as well as the burden that the existing treatments carry with them. On her gravestone it reads, ‘Eternity in Love’ and we genuinely believe that we are already together…in time. Time is precious and even though we all know that, the death of a nine-month-old makes you understand it fully.

But.

First, we had to deal with the trauma and understand how to even function. It was like a cruel set of dominoes falling one after the other, leaving us breathless at every drop.
Layla died.
We don’t know when exactly that night.
But we took it in turns – one slept with Layla and the other with her older sister.
We set an alarm for every two hours.
Our hand was always under Layla to feel if she was in trouble.
We would even come in and check on each other.
It was exhausting.
 
We went to the hospital for help.
The specialist children’s hospital sent us home and said that next time we should go to our local.
Our local said that we should go to our specialist hospital.
This lasted months.
It was exhausting.
 
Costa put her in the car on New Year’s Eve and decided she deserved to be defended...ruthlessly.

Emergency - New Year’s Eve party… “3, 2, 1, Happy New Year,” just outside the door.
It was surreal.
 
In that new year, Layla began to lose her smile and the use of her body. 
We saw depression creep into her beautiful eyes.
We did all we could think of – massages, music, play therapy, educator…it goes on.
It was an honour and a joy.
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In the last week of her life, she had over 120 seizures. 
We made an appointment with a doctor in Melbourne – a world specialist.
Layla never made it.
 
We cried. One of us even burned their face with stomach acids – the tears were violent. 
Utter devastation. 
Deep silence.
Like looking at the world spinning from space.
 
There is nothing more vile and more insidious in existence than SCN8A.

There is nothing more supportive and loving than the SCN8A community that stands before this and gives critical hope to us all.
 
Our family is deeply grateful to the International SCN8A Alliance, and especially to The Cute Syndrome Foundation (TCSF) because they reached out and kept us going…living. We were helped to commemorate our child financially, along with countless hours of caring contact from altruistic, loving mums and dads as we cried non-stop for months. 

“Layla: The Festival of Mark Making, Mark II” was a project that celebrated Layla and her love of drawing and colour, mostly funded by TCSF. It brought children’s artwork from around the world to celebrate them and their ‘voice’. 

We now build hopeful and joyful things together and make a positive change to our community, over time.
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After Layla’s death, Costa and Ghaith endeavored to create a meaningful way to honor and remember their daughter and her love of drawing and color, while also providing a way for others in the SCN8A community to express themselves. In the second part of this two-part series, TCSF volunteer Karen Varner shares her experience attending the Festival of Mark Making event that was held on what would have been Layla’s second birthday.
]]><![CDATA[Embracing Diversity and Evolution: The Cute Syndrome Foundation Marks 11 Years with a Meaningful Update to Our Logo]]>Fri, 03 May 2024 04:30:00 GMThttps://www.thecutesyndrome.com/blog/embracing-diversity-and-evolution-the-cute-syndrome-foundation-marks-11-years-with-a-meaningful-update-to-our-logoIn honor of our 11th anniversary, The Cute Syndrome Foundation has removed the word “epilepsy” from the SCN8A heart in our logo to recognize the diversity within our community and our evolving understanding of SCN8A mutations. While it may seem like a subtle change, it is an important one.
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When I started The Cute Syndrome 11 years ago in honor of my daughter Esmé, I envisioned it primarily as an outlet for sharing Esmé’s story—including the beautiful moments and the challenges as we navigated her epilepsy, medical complexity, and significant developmental delay. When Esmé’s SCN8A mutation was identified in 2015, we discovered a small community of children that seemed a whole lot like her. At the time, the majority of patients with SCN8A also faced refractory epilepsy as well as physical and developmental disabilities.  ​
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Esmé in 2013, the year TCSF was founded.
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Esmé and Hillary (2013)
We ultimately learned that Esmé’s SCN8A mutation was unlikely to be pathogenic, but it was not before we had fallen in love with this incredible community. 

Like many rare disease families, we had experienced so much isolation in our path to find a diagnosis. The idea of no longer being a part of the SCN8A community was devastating. However, even as Esmé’s diagnosis evolved, our SCN8A family continued to embrace us. We felt welcome and supported, despite no longer “fitting the mold.”

​This experience instilled in me, in us, that The Cute Syndrome Foundation is a place where we want everyone touched by SCN8A to belong.

Over the years we’ve come to understand that Esmé and my experience, while particular, wasn’t entirely unique: Having an SCN8A mutation means different things for different people. There are still many shared experiences across the SCN8A patient population, however, there is no one way to have SCN8A. At the extremes, some patients experience severe developmental encephalopathy with epilepsy, while others have intellectual disabilities, behavioral disorders, or movement disorders without seizures. Many more fall somewhere in between. 

Today, we honor the full spectrum of the SCN8A experience and emphasize that we remain an inclusive, supportive community for everyone.

Just like our understanding of SCN8A, The Cute Syndrome Foundation has grown in ways I could never have imagined. The small social media platform where I shared my daughter’s story has become a thriving organization representing the interests of the SCN8A patient community and offering support to families at every stage in their journey. 

We cannot move forward without targeted, evolving, translational research, but the patients and families are the heart of everything we do and they have always been, for 11 years. This small change in our logo represents another big step forward as we continue to navigate all that life with an SCN8A mutation entails—the beautiful and the challenging—together. The Cute Syndrome Foundation’s logo is a visual representation of what we stand for. The inclusion of the heart in our logo, which has been adopted nearly universally by this community, may mean many things to many people. 
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PictureEsmé and Hillary (2024)
For me, though, it is a reference to the work that Esmé and I have done her entire life: living at the frontier between science and love, where I find hope best thrives.

Hillary Savoie
Founder and President
​The Cute Syndrome Foundation
]]><![CDATA[Shedding Light on SCN8A: 8th Annual International SCN8A Awareness Day]]>Tue, 30 Apr 2024 01:27:56 GMThttps://www.thecutesyndrome.com/blog/shedding-light-on-scn8a-8th-annual-international-scn8a-awareness-dayFebruary 9, 2024, marked an important occasion for the global community, particularly for those whose lives have been touched by SCN8A, a rare disorder that often operates in the shadows. International SCN8A Awareness Day, observed under this year’s theme #IfYouOnlyKnew, served as a poignant reminder of the challenges faced by individuals affected by this condition, which impacts less than 1,000 people worldwide. This day is not just about raising awareness; it's about fostering understanding, empathy, and support for those navigating the complexities of SCN8A.
At the core of this movement lies a profoundly personal narrative, one that begins with Michael Hammer, PhD, a geneticist and father. Dr. Hammer's journey into the realm of SCN8A originated from his own daughter, Shay. Sadly, SCN8A claimed Shay's life in 2011. However, from this devastating loss arose a dedication to comprehending and confronting this uncommon disorder, illuminating a path forward amidst the darkness.

In honoring Shay's memory and the countless others affected by SCN8A, The Cute Syndrome Foundation (TCSF) played a pivotal role in starting the annual International SCN8A Awareness Day, alongside Ajude o Rafa and Wishes for Elliott, in 2017. It's a day not just to mourn losses, but to celebrate lives, resilience, and the enduring spirit of those impacted by SCN8A. February 9th holds special significance as it marks Shay Hammer's birthday—a fitting tribute to a life that continues to inspire change and advocacy.

SCN8A is not merely a medical condition; it's a multifaceted challenge that extends beyond the realms of physical health. It can manifest in severe epilepsy, developmental delays, and a myriad of other medical complexities and behavior challenges. Yet, amidst the struggles, there is a community united by a common purpose—to shed light on SCN8A, to amplify the voices of those affected, and to advocate for greater support, resources, treatments, and research.
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#IfYouOnlyKnew encapsulates the essence of International SCN8A Awareness Day—a call to action, a plea for understanding, and an invitation to stand in solidarity with those confronting this rare disorder. If you only knew the daily battles fought, the triumphs celebrated, and the resilience exhibited by individuals living with SCN8A, perhaps you'd see the world through a different lens—one characterized by empathy, compassion, and unwavering support.
"There's something that people that don't live in this world don't understand—can't understand—and that is the absolute perfection of our children."—Hillary Savoie, TCSF Founder and President
This year's awareness day theme brought attention to the profound struggles faced by caregivers—individuals grappling with complex decisions regarding their children's care, navigating insurmountable grief, and contemplating what quality of life means for their families. In response, TCSF has taken proactive steps to provide educational series and family support centered around these difficult topics in 2024. It's a conversation that weighs heavily on the minds of many, and TCSF aims to provide a platform where caregivers can openly discuss their experiences, share insights, and find solace in community support.
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#IfYouOnlyKnew..."The pain and the joy Nora brings to our lives. It's a dichotomy. We've seen our little girl suffer more than any little person should and we've all suffered immense pain. But she's still brought light, beauty, joy and unconditional love to our lives. She's taught us what's most important and we've learnt what it really means to love unconditionally, without expecting anything in return. Our hearts are broken and bigger and fuller, all at once."—Grace, Parent of Nora, Ireland
As we reflect on International SCN8A Awareness Day and its significance, let us reaffirm our commitment to fostering a world where individuals affected by rare disorders like SCN8A are not defined by their medical conditions, but by their strength, courage, and humanity. Together, let's illuminate the path towards greater awareness, understanding, and inclusion for all. It's a journey marked by challenges, but also by moments of profound connection and hope.
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]]><![CDATA[Celebrating Unity and Resilience: TCSF's 9th Annual SCN8A Clinician, Researcher, and Family Gathering]]>Thu, 18 Jan 2024 16:34:07 GMThttps://www.thecutesyndrome.com/blog/celebrating-unity-and-resilience-tcsfs-9th-annual-scn8a-clinician-researcher-and-family-gatheringAmidst the enchanting atmosphere of Orlando, Florida, The Cute Syndrome Foundation (TCSF) hosted its 9th Annual Clinician, Researcher, and Family Gathering from December 1st to December 2nd, 2023. This event illuminated the path forward for SCN8A research, treatments, and support and brought together families, clinicians, researchers, and industry leaders in a shared journey of discovery, unity, and resilience. 
Family SCN8A Education
The weekend commenced on December 1st with a family meet and greet, setting the tone for a weekend of connection and collaboration. The educational portion of the event featured talks by esteemed researchers, including "SCN8A 101" by Dr. Eric Wengert and "Emerging Treatment Options for SCN8A" by Dr. Madeleine Oudin, a distinguished researcher as well as the mother of a child with SCN8A. 
 The Annual Gathering
​The Friday evening Annual Gathering brought together over 150 professionals and families and transcended its role as a mere event. It became a vibrant space for connection, where stories intertwined, experiences were shared, and a sense of camaraderie enveloped all. This gathering served as a testament to the strength and unity inherent in the SCN8A community. 
View the Event Recording
Cutting-Edge Insights into SCN8A
The event highlighted the latest advancements in SCN8A research and clinical treatments. Clinician presenters—including Dr. John Schreiber, Dr. Jillian McKee, Jan Magielski, and Joshua Hack—delved into the intricacies of clinical treatments. Their presentations offered attendees a comprehensive understanding of the current landscape, shedding light on the strides being made in providing effective care and support for individuals and families affected by SCN8A.

The presentations given by researchers Dr. Al George, Dr. Jennifer Wong, Dr. Michael Hammer, and Dr. Jacy Wagnon were equally noteworthy; they revealed the latest breakthroughs in SCN8A research and explored new avenues for understanding the disorder at a molecular level. The research shared was insightful and fostered optimism and hope within the community.

A special thank you to Dr. Schreiber for moderating the clinician presentations and Dr. Manoj Patel for overseeing the researcher presentations. Your unwavering support for our community does not go unnoticed and is greatly appreciated!
Family Stories
During the event, two touching stories were shared. Marianne Sutcliffe, SCN8A mother and TCSF Board of Directors Secretary, recounted her family's unpredictable SCN8A journey with her daughter, Brianna. Shawn and Krista Smith shared their own journey with their SCN8A angel, Connor, and provided updates about TCSF's Connor James Smith Patient Assistance Grant. This grant has positively impacted 12 families within the SCN8A community since its inception in early 2023.

Industry Insights
The evening was enriched by industry presentations from Dr. Brian Pfister of Praxis Precision Medicines and Dr. Svetlana Shore along with Fiona Scott from Neurocrine Biosciences. Dr. Pfister provided insights into PRAX-562, a next-generation anti-seizure small molecule in development for SCN8A-DEE, while the Neurocrine Biosciences team presented research updates and discussed potential advancements in treatment. 

The collaborative support from platinum sponsors Praxis Precision Medicine and Neurocrine Biosciences underscored the importance of industry involvement in advancing SCN8A research and treatment.
2023 CUTIES Awards
Against this backdrop of groundbreaking information, the CUTIES Awards took center stage, acknowledging the outstanding efforts of Dr. Madeleine Oudin, Tufts University researcher and SCN8A mom; Dr. Scott Perry, neurologist at Cook Children’s Hospital; and Shawn and Krista Smith, parents of SCN8A angel Connor, and founders of TCFS’s Connor James Smith Assistance Grant. These individuals were celebrated for their exceptional contributions to understanding, treating, investigating, and empowering those with SCN8A.
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CUTE Connection Family Activities
Saturday began with a family breakfast, featuring updates from the SCN8A European Federation by Cinzia Scarcelli. Rebekah Palmer then introduced the Mark Making process, a collaborative effort between TCSF and SCN8A parents Constantine Loucopoulos and Ghaith Al-Badri. The process showcases the artistic expressions of SCN8A children, siblings, and parents and will be exhibited in an art gallery in Australia to honor their SCN8A angel, Layla.
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Rebecca Palmer introducing Mark Making and Layla's exhibition
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Cinzia Scarcelli providing updates on SCN8A efforts in Europe
The festivities continued with a variety of engaging activities for children, including games, art creation, and heartwarming visits from therapy dogs Mariah and Peace, courtesy of the Trinity Lutheran Church in downtown Orlando. Heroes for Hire brought an extra dose of joy, dressed as beloved superhero characters, and the children were thrilled to receive handmade dolls from Feel Better Friends. The day concluded with parents indulging in well-deserved chair massages from JoyLife Therapeutics, followed by relaxation by the hotel pool cabanas or a cozy movie in air-conditioned comfort, both activities providing a space where they could be entirely themselves.
The 9th Annual Clinician, Researcher, and Family Gathering was a resounding success, fostering connections, celebrating achievements, and providing a supportive environment for SCN8A families. The event highlighted the importance of unity, resilience, and ongoing efforts to enhance the lives of those affected by SCN8A. As we look forward to future gatherings, the magical memories created at this event will undoubtedly resonate within the SCN8A community for years to come. 
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Watch the event recording!
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VIEW THE PHOTOS
Photos by: Ryan Collerd
www.ryancollerd.com
A special thanks to our Platinum Sponsors who made this event possible:
]]><![CDATA[CUTE Connections 2023: SCN8A Families Find Fun, Fellowship, and Respite]]>Sat, 14 Oct 2023 23:05:18 GMThttps://www.thecutesyndrome.com/blog/cute-connections-2023-scn8a-families-find-fun-fellowship-and-respiteIn 2020 during the COVID-19 pandemic, The Cute Syndrome Foundation (TCSF) recognized that most families were in crisis mode and desperately needed to feel connected during a time of extreme isolation. In response, TCSF established a virtual social and emotional programming that is still going strong three years later, thanks to the sponsorship of Neurocrine Biosciences!

As the pandemic began to settle, TCSF realized that providing year-round virtual activities is still imperative to our families, but it was now time to focus on engaging in more face-to-face fellowship activities. In early 2023, TCSF announced the CUTE Connections grant, and immediately families jumped on the opportunity to organize regional meet-ups. 
The goal of CUTE Connections family activities is to give our families a safe and worry-free environment to first and foremost give and receive actual hugs, spend time catching up, and provide each other with moral support. TCSF wants everyone to experience much-needed community fun, with minimal financial burden to our families. In 2023, three summer CUTE Connections family meet-ups were organized with TCSF grant funds totaling over $6,000.

The Inaugural CUTE Connection: Atlanta, Georgia
The first CUTE Connection was held in Atlanta, Georgia with eight SCN8A families represented! The weekend was spent visiting the Georgia Aquarium, including a behind-the-scenes tour as well as enjoying lunch at the aquarium. They finished the day with dinner at the Mellow Mushroom where families had a chance to get to know each other or get caught up with those they hadn't seen in a long time. 
“My family thoroughly enjoyed the Cute Connections gathering and can’t wait for the next one. It was so nice to be with families like ours in a fun setting and get to know everyone better. The kids loved meeting everyone their own age and it was great for our older son who doesn’t have scn8a to meet other scn8a siblings.” -Madison Whingham, Mia’s mom
"The weekend was a fantastic way to put names and faces together. Truly an amazing experience where our daughter could interact with others in her peer group." -Cheri Authement, Lauren’s mom
The Second CUTE Connection: Branson, Missouri
The second TCSF-sponsored family meet-up event involved six families meeting in Branson, Missouri! During this event, families impacted by SCN8A were able to spend the day with others who “get it” and live similarly to them. 

TCSF paid for the admission to White Water, a waterpark in Branson, and provided lunch for the group. Two private cabanas were also provided so that families would have space for their medical necessities, changing areas for their children, shade, and fans to keep cool. The cabanas were the perfect setup that allowed our vulnerable children a way to enjoy the day with friends and family and take breaks as needed. The day did not go without a few seizures, but the kids had a blast lounging at the splash pad, floating in the lazy river, and sliding down the water slides. It was a great day making CUTE connections within our group.
“We loved being able to gather in person while having a day of fun. Connecting with other families of children with SCN8A has been wonderful for us, and we are thankful that The Cute Syndrome provides opportunities to do so.” -Rebecca Turpin, Cubby’s mom
“We are very fortunate that The Cute Syndrome is so focused on supporting the mental health of the families of children with SCN8A. It was such a nice change of pace to spend time with other families sharing stories of both trials and triumphs while also doing fun activities.” -Megan Gard, Clayton’s mom
The Third CUTE Connection: Milan, Italy
The third CUTE Connection was held in Milan, Italy for a weekend of fun at a resort that accommodated 13 Italian SCN8A families! Everyone arrived on Friday afternoon and enjoyed chatting in the two small pools dedicated to children, plus an Olympic-size swimming pool for siblings and adults as well. Then, they all met for a lovely dinner.
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On Saturday morning, Rossella, Enrico's mom, organized a visit to the Acropolis of Populonia, with its temples, buildings, mosaics, and Roman roads, as well as the ruins of the huts of the first Etruscan settlement. Families were free to join the visit or stay at the resort, enjoying the pool. After lunch, Cinzia, Aron’s mom, led a knitting class while Michol, Emma’s mom, entertained children using storytelling cards.

In the late afternoon, there was an organized football match where parents and kids could compete! After dinner, Enrico’s parents, Rossella and Piero played guitars and sang, while families enjoyed music and chats. Families said goodbye over breakfast on Sunday morning and made arrangements to meet at the next gathering.
"These rare moments help us not feel alone and represent an important enrichment for our lives." -Loredana, Flavio's mum
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 "I want to be on this vacation forever!" -Mattia, a child with SCN8A
A Summer of SCN8A Family Fun
Overall, 2023’s CUTE Connections created opportunities for SCN8A families totaling over 125 people to enjoy a bit of summer fun and respite from the day-to-day stressors our families typically face when living with an SCN8A diagnosis. 

Upcoming Winter CUTE Connection in Orlando, Florida
Stay tuned for details on the winter TCSF CUTE Connection family meet-up on Saturday, December 2nd in Orlando, Florida, that will be held in conjunction with this year’s annual gathering! This fun-filled family day will follow the 9th Annual SCN8A Clinician, Researcher, and Family Gathering on Friday, December 1st. TCSF has a lot of exciting surprises up its sleeves…you may even get to see Spiderman, enjoy a much-needed relaxing chair massage, or hang out by the pool in a private cabana! We can’t wait to see you there!

If you are an SCN8A family and are interested in organizing a regional family meet-up, you may find more information on the CUTE Connections grant application process here: thecutesyndrome.com/cuteconnectionsgrant
]]><![CDATA[Spreading Joy: Announcing the Awarding of Six Connor James Smith Patient Assistance Grants Totaling Over $15,000]]>Mon, 03 Jul 2023 14:47:45 GMThttps://www.thecutesyndrome.com/blog/spreading-joy-announcing-the-awarding-of-six-connor-james-smith-patient-assistance-grants-totaling-over-15000In many cases, insurance covers the bare minimum for patients with rare genetic disorders like SCN8A, which leaves families footing the bill for necessary medical equipment, therapy devices, educational aids, medications, outpatient therapy costs, home and vehicle modifications, etc.  The list is a mile long and the expenses add up quickly.
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All of these out-of-pocket costs can create a financial burden that forces caregivers to make difficult choices about: choosing between life-saving medications or necessary medical equipment; choosing to sacrifice the physical health of their bodies because they cannot afford to remodel their bathroom to make it ADA accessible; choosing to pay for costly outpatient therapy instead of enjoying a family activity.
When I assumed the Executive Director position in July 2022, I had one particular idea that I desperately wanted to see come to fruition - a patient assistance grant for our SCN8A community. I know firsthand how many times caregivers are told no, so I wanted to create an avenue where we could say yes.

In early 2023, I received a phone call from a bereaved SCN8A mother, Krista Smith, in which she shared with me a vision she had to honor her late son’s legacy. The moment she began describing her ideas, I broke out in chills and tears streamed down my face because our visions aligned perfectly and I instantly knew this was meant to be.
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Krista Smith, Connor’s mother, describes it best:
A promise made to a young boy at the end of his life started it all.

Connor, 12 years old, spent his whole life immunocompromised and suffering from seizures, and in December 2022, no longer could his lungs recoup from another illness. The doctors pulled life support and we, Connor’s mommy and daddy, made a promise to Connorman—our real-life superhero, and to God. For mercy, a painless passing into Heaven, that we would act out Connor’s legacy of spreading joy and being a blessing.

Despite Connor’s severe SCN8A diagnosis, he lived joyously. He lived a life well lived and loved. He smiled the brightest and he could make the most of a mundane day with just bubbles and fun color light-up toys. People were drawn to him with his cute and gentle demeanor. He traveled to and did so many fun things like watching his and Daddy’s beloved Chicago Cubs at Wrigley Field, flying through the Grand Canyon in a helicopter, and hiking the mostly uphill and then downhill Monticello-Saunders trail at the famed stomping grounds of Thomas Jefferson in his wheelchair.

His eyes squinted in delight, his right cheek dimpled, and his soul sparkled in pure happiness. He looked like an angel sleeping and always acted with love. He was an angel on earth.

Upon Connor’s passing on December 28, 2022, after his favorite holiday and when all the Christmas lights that lit up his hospital room dimmed and we walked out without our little boy, we started donating all his special needs and medical equipment for local families—putting words to action. The next month we reached out to Kacie at TCSF to fulfill the rest of the promise. 

We presented Kacie with our idea to use Connor’s rainy day funds and goodwill and pass it along to the SCN8A community to be a blessing and spread joy. We specifically wanted to help families just like us afford things they may otherwise sacrifice or go broke on—like seizure medications that insurance won’t cover, medical equipment deemed unnecessary by someone who doesn’t know our child, or special tools to help special kids access the world, like Connor’s favorite place—the beach. We dreamed of a grant in Connor’s name with few barriers and a global reach.

Kacie and TCSF collaborated alongside us with the same vision to lessen the burden on families in our community and furthered the mission by matching the grant. In just a few short weeks, we went from vision to beautifully developed graphics by Megan Varner for the grant application and an easy-to-read and apply application from Kacie, Krista, and Shelley. Danielle Hayward contributed donation links so that all of Connor’s friends and family could donate additional funds to the grant above and beyond the family’s commitment.

In just a few short months since Connor’s passing, the Connor James Smith Patient Assistance Grant has gracefully come together and it is already a blessing and spreading joy to the SCN8A community. We joyously look forward to keeping our promise to Connor.
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I am thrilled to announce that TCSF’s Connor James Smith Patient Assistance Grant went live on April 5, 2023, and within 24 hours we had our first application! Since the grant’s establishment, we have awarded 6 grants totaling over $15,000! These grants were awarded to patients in the USA, Israel, and Australia. 

We’ve purchased a specialized toddler walker for a child desperately wanting to interact with his peers, an outdoor trampoline to help a child work on their physical therapy goals at home alongside his siblings, and a Wonderfold Wagon to help a child stay safe and be able to enjoy outings with her family. We also awarded funds to help cover out-of-pocket costs incurred for specialized therapy and high-priced medications, as well as covering a portion of burial costs for two of our SCN8A Angels who gained their wings this year. 
When establishing the grant program for families, we had one primary goal in mind: to make the process easy for everyone. We understand the mounds of paperwork and lengthy applications families are required to complete on an ongoing basis and we wanted to make the process as seamless and quick as possible for them, helping to relieve some of their financial stress. 

This grant is not based on financial need and is open to all SCN8A families around the world. Let us continue to honor Connor’s legacy of living life joyously by helping your family! 

Kac​ie Craig
Executive Director
LEARN MORE AND APPLY
]]><![CDATA[Reflecting on 10 Years of The Cute Syndrome Foundation]]>Wed, 03 May 2023 13:00:00 GMThttps://www.thecutesyndrome.com/blog/reflecting-on-10-years-of-the-cute-syndrome-foundationPicture
Ten years ago, when I started TCSF my daughter Esmé was seizing on average 15 times a week and struggling with extreme medical fragility. Her precarious health meant that nearly everything in our lives had stopped. She and I would spend days out of every week in bed with her sleeping, waking only to seize. It was in this position, pinned in place both figuratively and literally, that I started the foundation. And in all honesty, it was as much of an effort to cast toward some hope of helping Esmé as it was a way for me to maintain my sanity through some seemingly impossible days.

At first the vision was just to tell my daughter’s story and raise some limited funds for research. Both things turned out to be more complicated than I thought. First, Esmé’s genetic diagnoses continued to evolve, moving us through several communities—as she was both over and under diagnosed. Second, understanding what kinds of research best serve a community as it evolves quickly from being entirely uncharacterized to looking toward potential precision treatments, has proven to be an intriguingly complex problem to solve.
The thing that did not turn out to be complicated was the love I feel for this community, and the connection that persisted, even as my daughter’s diagnosis evolved to exclude SCN8A. ​
I am honestly in awe of the things that this foundation has managed to achieve in a decade: 
  • Raising over $1 million
  • Supporting 457 families in 48 countries
  • Combining efforts with the SCN8A support group established in 2014 by Juliann Bradish
  • Helping fund nearly $500,000 in scientific research grants
  • Receiving 6 grants totaling over $50,000
  • Supporting TCSF community events and support programs in excess of $255,000
  • Collaborating closely with the development of two clinical trials currently enrolling in the SCN8A community
  • Working with over 30 volunteers to help us achieve advocacy goals, all of whom are immediate relatives of individuals with SCN8A
  • Engaging the community to impressive results—from 77% response rate in the cross-sectional survey to inform the design of our first clinical trial, to enrolling a retrospective natural history cohort at Ciitizen in under 6 hours

​This is a lot for a group of people to achieve. And make no mistake, it may have begun with me and Esmé, but TCSF has only made the strides it has with a team and by working with the community—earning trust, evolving our efforts in response to the rare disease landscape, and following this community’s lead. As I have stepped away from my role as director and now serve as Board Chair, it has been a tremendous point of pride that this organization has continued to thrive and evolve without my daily involvement.
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It is also true that knowing that TCSF was created out of those painful early years of Esmé’s life—and knowing all the good it has contributed to—has given me such a sense of purpose all these years…and for that I am filled with gratitude to this organization and the community that has made it what it is today, ten years later.

Hillary Savoie
Founder and Board Chair, The Cute Syndrome Foundation
Hear from 9 more of the first support group families below as they share about how TCSF and the SCN8A community have impacted their lives.
]]><![CDATA[Together Again: 8th Annual SCN8A Clinician, Researcher, and Family Gathering]]>Wed, 18 Jan 2023 23:46:35 GMThttps://www.thecutesyndrome.com/blog/together-again-8th-annual-scn8a-clinician-researcher-and-family-gatheringIn 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. 
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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. 
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Our community is forever thankful for both of these researchers and their love for our community!
The Gathering
​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. ​
View the Event Recording
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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!
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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. 
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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. 
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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. 
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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 Representative 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.
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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.

Looking back at the photos of this year’s Gathering I couldn’t help but smile at all the SCN8A children together. One photo shows wheelchair after wheelchair lined up in a row. Then the thought occurred to me that not once did I notice people looking at us. I mean, I’m sure they were, but I didn’t notice. And that is a testament to how you will feel when you attend an SCN8A Gathering. You feel like you belong, like you are normal, like you are fully accepted. 

The fact that I spent over 48 hours in a major city surrounded by people and children in profound circumstances and not once noticed what other people might be thinking, shows you just how loved and supported my family felt. That is a feeling that many families like mine can’t get anywhere else. Although our trip was not without difficulty, I am so glad that we got to attend this year’s SCN8A Gathering in person. Online friends became in-person friends that in turn now feel like family. It was one of the best experiences we have had in Tate’s three years of life. We can’t wait till next time!”
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!
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VIEW THE PHOTOS
Photos by: Ryan Collerd
www.ryancollerd.com
]]><![CDATA[Meet TCSF’s New Executive Director]]>Tue, 19 Jul 2022 15:00:00 GMThttps://www.thecutesyndrome.com/blog/meet-tcsfs-new-executive-directorPicture
All About Kacie:
Have you ever felt that you’ve lived multiple lives within one lifetime? For example, the person you were while in high school is slightly different from who you were while in college, and even more changes happen when you “grow up” and begin your career, have children, buy a house, etc… These paradigm shifts in life seem to guide you in different directions and your motivation and focus in life shift and change. 
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I grew up in the small town of Sullivan, Missouri with my parents and younger sister until I set off for college in Springfield, Missouri. I knew I wanted to enter the healthcare field from a young age. I thoroughly enjoyed the “blood and guts” of my anatomy classes and my heart longed to help people in a meaningful way, thus entering into the field of radiography was a natural fit. 
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After graduating with my Bachelor of Science degree in radiography management, I began working as a radiographer and married my college sweetheart, Ken. As a radiographer, I had the opportunity to make patients laugh and smile on the good days and hold their hands and give them hugs on the bad days. I treated each of my patients as if they were family members and I realized I wanted to encourage others to do the same.
After working in a level one trauma center and then an outpatient imaging center for five years, I had the opportunity to teach in my alma mater radiography program and it was then I discovered I could instill my passion for patient care into each and every student who passed through our program. Nearly 10 years ago, I earned my Master’s of Science in Education degree and worked my way up to the rank of Assistant Professor and took over as the Program Director. I honestly expected to continue in that position until I retired, but we know that life had other plans for me.
In 2011, my dear boy, Lincoln, was born. He had a few health concerns as an infant that required him to undergo physical therapy, a sedated MRI, and meet with a neurologist, which eventually resulted in a diagnosis of Benign Paroxysmal Torticollis (BPT). BPT is a rare medical disorder that is thought to be caused by a mutated migraine gene and causes infants to have recurring episodes of head and trunk tilting for weeks at a time. Fighting for an explanation and diagnosis was when my “momma bear” instincts first developed.  When Stella was born four years later, the spark to fight for my children accelerated into a raging fire.​
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Kacie, Stella, Ken, and Lincoln
Stella was born into the world most likely having seizures, but we thought her “jumpy leg” was just a cute way to enter the world and her extreme startle reflex and her quivering arms were only an underdeveloped nervous system. It was on a cold morning in December of 2015, six weeks after she was born, that Stella’s first apparent seizure reared its ugly head. From that moment forward, my life changed and I’ve never lived another day of my life not thinking about seizures. 
PictureKacie and Stella
If you know someone with a diagnosis of SCN8A, you know how the next few months went… EEGs, lumbar punctures, MRI scans, blood work, genetic testing, medications, hospitalizations, doctor appointments—the list goes on and on. I was exhausted and at my wits’ end when we received the results of her second round of genetic testing that pointed to a mutation in the SCN8A gene. At that point, Stella was five months old and was having more than five tonic-clonic seizures a day, each lasting five to twenty minutes long. ​
My momma heart NEEDED a diagnosis…I needed something to blame…I needed something to yell and scream at for taking away the life I thought I was going to live… the life I thought my baby girl was going to live. 

The genetics counselor called me with the results of SCN8A. I hung up the phone and immediately began researching everything I could to find about SCN8A. My “momma bear” instincts ignited again, all my energy and focus was poured into fighting for Stella’s life. I wanted to learn everything about SCN8A—What drugs should we try next? What hospital/doctors were the best? What treatment options did we have? Who else is out there like Stella and can they help guide me? 

It was in my research that I stumbled upon The Cute Syndrome Foundation (TCSF) and their family support group on Facebook. From my very first post in the support group, I knew I had hit the jackpot! The support and encouragement that parents provided even in their darkest hours was nothing short of incredible. 

Nine months after Stella’s SCN8A diagnosis, I attended the 2017 TCSF Clinician, Researcher, and Family Gathering in Washington, DC. I walked into a room filled with people I had never met in person, but felt like I had known for years. The weekend was filled with education, empowerment, and emotions. I honestly didn't want to leave…I felt so connected with the other parents and children. It was then I realized I wasn’t the only one who was struggling in isolation at home, but if we banded together as a community, our voices could be heard. 
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Kacie speaking at TCSF's 2018 SCN8A Clinician, Researcher, and Family Gathering in New Orleans
Kacie’s Commitment to TCSF:
I attended and spoke at the Annual Gatherings in 2017, 2018, and 2019 before I became an official TCSF volunteer. As you can imagine, my life with two kids, one severely affected by SCN8A, and a demanding full time job, I didn’t have much free time, but I believed in TCSF so passionately that I wanted to carve out time to volunteer. In 2019, I volunteered my time at the Gathering and expressed my interest in helping the community on a more personal level. 

I assisted in smaller projects until 2020 when TCSF received a Rising Tides grant from the Child Neurology Foundation that created opportunities for social and emotional programming. I had the idea of creating a TCSF Book Club in 2019, but now that we had the funds to support it, Hillary Savoie gave me the green light to run with my idea! Our book club continues to meet weekly over two years after its genesis.
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TCSF's virtual book club reading City of Girls by Elizabeth Gilbert
PictureEsmé, the original "Cute"
Since 2020, I’ve hosted the Clinical Trial Readiness (CTR) series, virtual and hybrid TCSF Annual Gatherings, and the Meaningful Change Series. In late 2020, I joined the Executive Leadership Team. I witnessed firsthand the hard work and dedication that TCSF volunteers poured into this community, and my heart longed to help more. 

One fateful day in December 2021, Hillary Savoie and I happened to fly into Chicago to attend the Annual Gathering on flights that happened to land ten minutes from each other and had baggage claims right next to each other, and so we decided to share an Uber ride to the convention center hotel. It’s funny how life works…I entered that car fully expecting to continue working as the radiography program director until my retirement, and exited that car dazed with excitement as I contemplated quitting my job and taking on the role of TCSF Executive Director. 

Spoiler alert—I followed my heart and took the plunge!

End of an Era:
For months now, I’ve contemplated how to thank someone for building an empire that pulls parents out of deep despair and leads them to hope and inspiration. The time and energy I know it took Hillary to build TCSF from nothing into this powerful group of parents advocating for their children’s lives, while taking care of her medically fragile child, Esme, is almost unfathomable. Then, to thank them for entrusting you with one of their most prized life’s work—how does one do that with the proper level of gratitude?

I first want to thank the person who started it all, Esmé. Gosh, watching you grow into the beautiful, opinionated, intelligent, and creative young lady you’ve become over the past six years has been an absolute joy! You are and always will be “ The Original Cute”!

And lastly, thank you, Hillary. Thank you for your tireless work for this community over the past eight years. I know it has been nothing short of a miracle that you still have your sanity and energy to focus your efforts in your new career and to serve TCSF on the board of directors. You have been a shining light for so many members of our community, myself included, and we appreciate your endless work to advance SCN8A into a household name amongst the neurological medical community. You are, and will forever be, a total rockstar momma and advocate and it is an absolute honor to follow in your footsteps as The Cute Syndrome Foundation Executive Director.

​—Kacie Craig

Read Hillary's farewell letter here.
]]><![CDATA[New Beginnings: A Letter from Founder, Hillary Savoie]]>Thu, 14 Jul 2022 19:40:32 GMThttps://www.thecutesyndrome.com/blog/new-beginnings-a-letter-from-founder-hillary-savoieHello SCN8A Community,

Founding The Cute Syndrome Foundation and running it these last almost 9 years has been one of the greatest honors of my life. This foundation has been responsible for some of the greatest lessons, friendships, and joys of my life. Sometimes it happens that a thing you've made takes on a life of its own. This is what has happened with TCSF. That is why I am writing today with an announcement: I am thrilled to share with you the appointment of Kacie Craig as our new Executive Director. Many of you know Kacie, mom of Stella, as the host of our Meaningful Change and Clinical Trial Readiness Series. She also runs our weekly book club and has served on TCSF's volunteer executive committee. Kacie will be here to lead TCSF into the next era as we move into expanding our support, engagement, and educational efforts for the SCN8A community.

As I transition to supporting TCSF from a role on the Board of Directors, I am reflecting on the tremendous work we have done over the years. Our family support group and programming has expanded to offer programming year round to serve the educational, social and emotional, and engagement needs of the SCN8A community. Our revenue has increased 10-fold in our time focusing on SCN8A. We are fortunate to have a clinical trial enrolling in our community. This organization is currently run by a number of committed family members of individuals with SCN8A.

I am so proud of what we have accomplished. And I am so thrilled to see what is to come under Kacie's tenure.

With gratitude,
Hillary
]]><![CDATA[Ciitizen launches SCN8A Program: Helping Patients Control Their Medical Records and Drive Research Forward]]>Tue, 30 Mar 2021 16:35:36 GMThttps://www.thecutesyndrome.com/blog/ciitizen-launches-scn8a-program-helping-patients-control-their-medical-records-and-drive-research-forwardPicture
Head over to the portal to sign up here: 
​http://bit.ly/TCSFciitizen
SIGN UP NOW
Being a parent to an SCN8A warrior can be overwhelming.  In the rare disease world, it seems like many families have to become experts on the diagnosis, so that they can train and teach their medical teams and professionals. If you’re lucky, you end up at a healthcare institution that has maybe 3 or 4 kids with the same diagnosis, and you may have to go through several medical institutions before you get there.  With advancing technology, wouldn’t it be great if that clinical data could be compiled for you, stored for review at any time, and shared easily with your physicians?  

Ciitizen has a free sherpa service to help patients do exactly that!
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What is Ciitizen?

Ciitizen is a free service that helps patients get more out of their healthcare records, by giving you access to all of your child’s medical records in one easy place. The best part, they do all the work for you. It only takes 10 minutes to sign up and then the team at Ciitizen takes it from there. Once everything is compiled, you can pull up and see the medical records at any time and share them with whomever you choose.

However, they don’t stop there--while patients benefit immediately from this service--Ciitizen has created an efficient process to extract information from the medical records we’ve already collected and continue to collect in order to produce a regulatory-grade natural history study for our community.

A New Kind of Natural History Study

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Ciitizen’s machine learning and expert team analyzes the digitized, de-identified patient data collected for all the SCN8A patients within the Ciitizen platform. Ciitizen employs a team of experts in HIPPA law and medical coding, genetic counselors, software developers, and scientists to apply world-standard terminologies (like SNOMED codes, RXNORM codes, etc) to SCN8A compiled data.

Traditional Natural Histories are essential tools for clinical trials, but they are prohibitively expensive, very time consuming, and they often require patients to resubmit to testing they have already undergone. Ciitizen makes it possible to quickly and inexpensively utilize existing medical information to create a retrospective natural history to help better understand our children. These findings are available to families and shared with academic researchers and consented non-profits at no cost. And patients do not need to travel to academic sites to take tests they have likely already received in the course of their treatment.
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How This Supports Clinical Trials

To test a treatment, we need actual physical measures that show progress over a range of patients with different ages, genetic backgrounds, severities, and medications. Often companies developing treatments in rare diseases like SCN8A need to establish and fund lengthy natural history studies in order to prove efficacy. This is costly, and it is not easy on patients.

In order to keep Ciitizen free for patients, Ciitizen charges commercial entities a license fee. This fee is lower than if these commercial entities established their own Natural History Study. It's also faster since the Ciitizen data is ready to go but traditional studies will take at least a year. Even better, Ciitizen shares a percentage of any licensing fee back to the foundations working on the SCN8A community, so we can continue investing in our community.

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How do I sign up?

The Ciitizen portal for SCN8A patients will open on April 1st, 2021. There will only be 50 spots open. Get ready to grab one of those 50 spots by making sure you have the following read to roll:
  • A list of providers and institutions where your child has been seen
  • Genetic report
  • Your driver's license
  • Child's birth certificate
The Cute Syndrome Foundation will provide instruction for signing up with Ciitizen in the support group and via our Meaningful Change Series. Our team will be available to help our community establish their accounts.
Head over to the portal to sign up here: 
​http://bit.ly/TCSFciitizen
SIGN UP NOW
]]><![CDATA[TCSF's 2020 Virtual Clinician, Researcher, and Family Gathering]]>Wed, 23 Dec 2020 14:50:05 GMThttps://www.thecutesyndrome.com/blog/tcsfs-2020-virtual-clinician-researcher-and-family-gatheringEverything in 2020 felt different, didn't it? This year The Cute Syndrome Foundation's 6th Annual Clinician, Researcher, and Family Gathering was no exception...as we moved forward with a fully virtual Gathering. 

While we have always offered live streaming of the event for our families who cannot travel, this year we focused on creating a virtual gathering experience that increased the opportunities for interaction and a sense of connection. We certainly missed seeing one another in person. And we all we all know that the experience of being present together, of wrapping our arms around someone we've only ever known on Facebook, of playing with each other's children is entirely irreplaceable. 
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However, a virtual Gathering allowed for some important benefits to the wider community. There were increased opportunities for participation among families who might never have been able to travel for an event due to geographic, financial, or medical limitations. And, thanks to our other 2020 Virtual Programming for our families--including Social and Emotional Support, Clinical Trial Readiness Education, and Pre-Gathering Vitual Sessions--our families were especially prepared for not just listening, but engaging--offering observations, asking questions, and connecting--in a virtual platform. 

However, the virtual can sometimes use a bit of help from hands-on experiences. In order to add to the Gathering experience, TCSF provided a “Conference in a Box” in order to add to the conference going experience...and also to provide attendees with  physical reminders of the community we have built around SCN8A. 
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These boxes included SCN8A-family-made goods including face masks, decals, and a cocktail/mocktail list as well as notepads, pens, and a thermal mug. We also included our annual magnets, showing the faces of our children and featuring the faces of the children we have lost--reminders that are visibly present in some of the labs and offices that are most invested in our community. 

We welcomed over 200 total Gathering attendees, including families, industry professionals, researchers, and clinicians. Participants represented 20 different countries around the world. We also saw incredible engagement within the platform chat during the meetings--both between professional attendees, continuing discussions post-presentations, as well as between family participants and professional attendees. We have been able to capture those conversations and, in some instances, provide further opportunities for family education, information sharing and/or professional connections. 

Our goal for this Gathering was to see the virtual setting as an opportunity--not to create another webinar or another prerecorded powerpoint presentation, but to provide a human-scale, emotional, and living event experience. Ahead of the Gathering we collected videos from our families--which were woven throughout the event, to ensure that our children were never far from our minds. TCSF Founder and  Director, Hillary Savoie kicked off the Gathering, setting the stage for this approach:
Using a virtual event hosting platform allowed conference attendees to receive information, ask questions, and interact with one another in a variety of ways, including informational sessions, interactive sessions, virtual expo booths, and a chat feature. Fun fact: a total of 1880 messages were sent throughout the course of the two-day Gathering! 

Our sessions included SCN8A 101, a clinician roundtable, research roundtable, siblings panel, cocktail/social hour, separate discussion groups for moms and dads, and an interactive session on how to develop developmental forms that take into account the humanity and uniqueness of our children.  As always, we concluded our event by taking some time to listen to the SCN8A families about how TCSF can continue to best meet the felt needs of the community.  
Throughout this year’s Gathering, the SCN8A community was treated to videos that were created by SCN8A families, highlighting their children’s stories, struggles, accomplishments, and overall cuteness. We also featured two longer Parent Story videos. Check out Heather's story about her son Tate, here: 
And Gaelle's Story about her son Milo:
The full public sessions will be available on our website soon! You can watch  Michael Hammer, PhD's presentation on his SCN8A mouse models on our Gathering video page. All of the videos made by our families are there as well. As always, our families say it best: 
Thank you for the glimmer of hope.
I love the collaborations happening.  Best way to move forward.
Wonderful information and so thankful for everyone.

]]><![CDATA[New TCSF Volunteer Heather Interviews TCSF Founder/Director Hillary]]>Tue, 24 Nov 2020 00:24:32 GMThttps://www.thecutesyndrome.com/blog/new-tcsf-volunteer-heather-interviews-tcsf-founderdirector-hillaryHave you ever wondered what TCSF is? Where did it come from and who started it? With so many new faces in the community it was time to catch up with The Cute Syndrome’s Founder/Director, Hillary Savoie, as she talks about the foundation and life as a special needs parent. 
       -Heather Crowley
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Q: Can you tell me a little about yourself?
A: I’m Hillary Savoie. I live in upstate NY, near Albany. I’m the founder and director of The Cute Syndrome Foundation (TCSF). I’m also an occasional writer and I have a doctorate in Communication and Rhetoric. More importantly I am mom to Esmé--a super cute, funny, smart nearly-ten-year-old girl who has multiple genetic mutations (in order of discovery): PCDH19, SCN8A, TBL1XR1, and MAP3K7.
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Q: Where does the name “The Cute Syndrome” come from?
A: The term “The Cute Syndrome” came from a conversation with my friend Dana when Esmé was a newborn. I told Dana that the doctors had said that she likely had some kind of syndrome, and Dana responded, “yeah, she has a syndrome--she has the Cute syndrome. I mean, look at her!” As Esmé grew, and her disabilities became more and more visible, people would often ask me what she “had” or, more insensitively, what was “wrong” with her. I found the questions frustrating for all kinds of reasons--not the least of which was that those kinds of questions sometimes felt rude, invasive, and exhausting, especially since we still didn’t have a diagnosis, despite the best efforts of a number of doctors. So, when I could muster it, I would just smile and say, “Oh, she has the Cute syndrome, can’t you tell? Obviously she’s the cutest kid ever!”
When I started blogging about Esmé, I named the blog The Cute Syndrome. And when I started the foundation, it seemed the natural name. Over time, due to TCSF’s work in SCN8A, The Cute Syndrome has become a synonym for SCN8A in some circles. I found that difficult at first--because, as far as I was concerned, Esmé was the only person with the Cute syndrome. It was invented for her, but once I saw how meaningful the name was for the SCN8A community, I was just happy to know that we were able to share. We just occasionally remind people that Esmé is The Cute or The Original Cute!

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Q: When and why did you decide to start a non profit for SCN8A?
A: Well, TCSF originally focused on PCDH19, the first mutation of Esmé’s that we were told about. However, Esmé did not clearly fit the phenotype of PCDH19, so we left the mission open to be able to support other communities. When Esmé’s SCN8A mutation was found in 2015, we found a community that seemed a whole lot like Esmé. They were facing very similar challenges and although we knew quite soon that Esmé’s SCN8A mutation was unlikely to be pathogenic, I had fallen in love with this community...and, just like that, we were family. 

Q: How has your goals changed for the foundation over the years?
A: Honestly, when I started TCSF, my goals were quite simple: I wanted to share Esmé’s story--both the challenges and the beautiful moments--as a way to help raise awareness. I thought I might be able to raise a little bit of money to help support research. My initial goal was $10,000 to help support one grant. That year we raised nearly $64,000. By the end of this year we are projected to have raised $600,000 over the seven years we have been a foundation. We will have funded 10 grants for rare genetic epilepsy clinical and bench research and held seven meetings for clinicians, researchers, industry partners, and families. 

Q: What is your greatest achievement for TCSF so far?
A: Well, it really isn’t one thing so much as it is an environment. There are two pieces to this: 
First, we have set a standard for how we talk about our children. I believe that we can both want to help our children be healthier and safer through medical advances AND see them as absolutely perfect as they are. In fact, I believe that is the only way to help our children...because they are amazing, every single one of them, as they are. And our job is to help them have more chances to safely be all of what is extraordinary about them. Creating an environment for celebrating our children and what we know about them is absolutely key, in my opinion, for moving forward to help our children from a position of hope. 
Additionally, we are, all of us, as caregivers of medically complex children, scientists, medical professionals, and advocates--we are part of the key to understanding how to advance treatments for our children. TCSF has always wanted to support families *at the table* with clinicians, researchers, and industry partners. We have never seen the model for advocacy of having meetings behind closed doors and reporting back to families--it has always been based on what families need and want to share about their experiences. This is most clear in our annual meeting when we have families tell their stories alongside medical and scientific professionals, while our children are in the room, making noise, playing, crying, and sometimes seizing...and without a doubt, every year, we hear again and again from these professionals that it is this part of the event that sticks with them--that drives them to continue their work and that provides insight they would not otherwise have.

Q: How do you balance being a medically complex parent and running an organization?
A: Not always well. I am tired a lot...and I know Esmé might hate the foundation sometimes. In fact, I have asked her to do a message for the upcoming Gathering and I am a bit afraid of what she might say. But I do tell her often that she is a very lucky girl--that she has had access to the best medical and therapeutic care we could ever hope for...and that just by being herself and letting me tell others about her, she is helping other children who might not be so lucky. 
At the end of the day, though, I know I am not doing any of this to help Esmé--because none of it will. The science we fund, the drugs in the pipeline for SCN8A, they won’t be answers for her. Sometimes that is a challenge, I’ll admit. But at the end of the day, the SCN8A community is our family...and we all do what we can for our family.

Q: What are ways people can get involved? 
A: There are several ways for you to get involved with the foundation. We cannot do what we do without funding, so we certainly welcome donations to TCSF. You can make a donation here: https://www.thecutesyndrome.com/donate.html. 
We wouldn’t be able to operate without volunteers. There are a wide variety of projects and events throughout the year and it takes a lot of people to help these efforts run smoothly. If you are interested in volunteering for TCSF, you can reach out to Karen Varner at karen@thecutesyndrome.com. 
Last but not least, you can help by spreading awareness. Follow us on Facebook, Instagram, and the blog. Share our stories. Tell others why SCN8A and TCSF are important to you. Encourage them to get involved! The more people know about us, the better we can reach the people who need us most!
]]><![CDATA[Luke's Walk for the Epilepsy Foundation of Metropolitan NY and TCSF]]>Thu, 24 Sep 2020 14:42:53 GMThttps://www.thecutesyndrome.com/blog/lukes-walk-for-the-epilepsy-foundation-of-metropolitan-ny-and-tcsf​Last year Luke Pitino, who was diagnosed with SCN8A epilepsy in his first year of life, and his family raised $71,000 for the Epilepsy Foundation of Metropolitan New York (EFMNY) and The Cute Syndrome Foundation (TCSF) during the Annual Walk to End Epilepsy! This effort established a fantastic and on-going fundraising partnership between EFMNY and TCSF.
 
This year Luke and the Pitino family are at it again!
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Since Luke’s diagnosis, his family has worked diligently to spread awareness and fundraise for The Cute Syndrome Foundation and the SCN8A community. His father, Ryan, joined our board of directors in 2019.

Like last year, half of the money raised by Luke’s Walk to End Epilpesy will be donated by the Epilepsy Foundation of Metropolitan New York to The Cute Syndrome Foundation to support SCN8A awareness and research. 

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​This year, since the Walk will be held virtually, we can all join Luke’s team, from far and wide, to support Luke, EFMNY, and The Cute Syndrome Foundation. Can you help them reach their goal of $50,000 in support of EFMNY and TCSF? 
 
Support the team below between now and October 18th to become an #SCN8Achampion and join Luke and TCSF  on the Annual Walk to End Epilepsy!

Support Luke's Walk
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]]><![CDATA[TCSF SCN8A Clinical Trial Readiness Educational Series]]>Wed, 16 Sep 2020 13:54:57 GMThttps://www.thecutesyndrome.com/blog/tcsf-scn8a-clinical-trial-readiness-educational-seriesThe Cute Sydnrome Foundation is thrilled to announce that starting on September 30th we will be holding a five-week Clinical Trial Readiness Educational series for the SCN8A community. Take a look at the topics we have planned below:
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TCSF believes that one of the most important things we can do to help prepare our community for any and all clinical trials focused on the SCN8A community is to help ensure that our families are informed on how clinical trials work—as well as on general drug development, the ethics of patient data collection, and the variety of potential future therapies. This Clinical Trial Readiness Series will bring together panels of industry professionals, clinician researchers, and other rare epilepsy advocates to discuss these important details. 
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We are grateful to our generous sponsors, including Neurocrine Biosciences and Zogenix, for helping to make this important series possible!
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In our first series event we welcome writer, advocate, photographer, and mother Rachel Callender to lead a workshop focused on the language we use to talk about our children. In this workshop we will connect around the idea that we need to be able to both talk about our children in terminology that allows us to help them (the language of science, medicine, development), but also in ways that allows us to celebrate them for exactly the extraordinary people they are, right at this moment. As we look with hope toward new therapies in our future, we also need to pause and remember the beauty at the center of that hope: Our children.
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Take a moment to watch Rachel's message to the SCN8A community:
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