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The 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 IIBy Karen Varner, Lily’s Mom and Volunteer, The Cute Syndrome Foundation  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.
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The 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 StoryBy 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.  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. Amidst 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. In 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.  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. 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!  This is a sad story. Perhaps it is two sad stories—stories that begin with the loss of two boys. But it is also a hopeful story. It is a loving story. And, I share it as a reminder of why TCSF prioritizes bringing our SCN8A families together at our Annual Gathering: We are not here for our individual experiences alone, because we are a community that has decided to love, to share, to mourn, and to fight...together. -Hillary Savoie, PhD
Founder and Director, The Cute Syndrome Foundation When we heard about The Cute Syndrome Foundation's Annual Gathering, I thought, oh, that would be so neat, but there’s no way we could make that happen. Then we realized it was only 2 hours away, and my husband insisted we try to make it work if we could. I went in, not knowing what to expect. I felt unease and uncertainty, but, in hindsight, it was a great decision. My time at the Gathering it left me wanting to create a guide for other SCN8A caregivers for when they attend their first Gathering. However, since my experience is unique, I thought I would reach out to my new-found friends, to inquire what other first-time Gathering parents experience. Here is what I learned:   This year a very special team will be walking at the Walk to End Epilepsy hosted by Epilepsy Foundation of Metropolitan New York: Luke's Walk for Epilepsy.
Luke is one of the approximately 350 children in the world known to have SCN8A-related epilepsy--and his family is so eager to help find better treatment for Luke and the other children with SCN8A mutations. As a result, the Epilepsy Foundation of Metropolitan New York has generously agreed to donate half of the money Luke's team raises to The Cute Syndrome Foundation in support of SCN8A. Can you help them reach their goal of $50,000?  The Cute Syndrome Foundation is celebrating the First International SCN8A Awareness Day on February 9th with the other family-based advocacy organizations including Ajude o Rafa and Wishes for Elliott, as well as individual families are reaching out to share the story of the grave impacts of this newly identified epilepsy. For more information about SCN8A Awareness Day visit: www.scn8aawarenessday.net
 Today a blog post on Scientific American told the story of how families affected by SCN8A mutations are coming together to help push forward research agendas for SCN8A. Several of the amazing family members and researchers working toward a better understanding of SCN8A Epilepsy are featured in the article--including TCSF's Founder and Director Hillary Savoie and her daughter Esmé:
Yet doctors sometimes come to the wrong conclusions. Hillary Savoie’s daughter Esmé was originally diagnosed with a mutation on a different gene called PCDH19. Hillary created a foundation to raise money for PCDH19 research and then learned that her daughter also has an SCN8A mutation. “She was always different from the other PCDH19 children,” says Hillary. “We just didn’t know why.” |
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