SCN8A Ambassadors
The SCN8A Ambassadors are an incredible resource to the SCN8A community, both loved and respected for their commitment to all families with an SCN8A-related disorders. This volunteer initiative connects families navigating the challenging journey of an SCN8A diagnosis with experienced mentors. Our ambassadors are pillars of strength, knowledge, and empathy, each bringing their unique experiences and insights to support, guide, and empower other families affected by SCN8A. Their unique journeys are marked by the pursuit of diagnoses, complex clinical features, advocating for essential care, and navigating daily challenges for SCN8A families. Their roles as advocates, educators, and friends highlight the program’s commitment to fostering connections and providing meaningful support within the SCN8A community.
Tammy & Liam
Location: Michigan, USA
Experience with SCN8A: Liam was diagnosed at 2 years and 1 month.
Clinical Features: Liam’s SCN8A condition includes a variety of seizure types, severe impact on his daily life, gastrointestinal issues, cortical impairment, and he is non-verbal and non-ambulatory. He requires 24/7 care and utilizes both G and J tubes for nutrition due to his inability to safely eat by mouth.
Personal Journey: The journey to Liam’s diagnosis was challenging, with seizures initially being observed but not understood, leading to a significant delay in diagnosis. Feeding Liam was particularly difficult, as he refused to eat or could not swallow properly, which led to the decision to use a G-tube at the age of 4. This was a pivotal moment, as it significantly improved Liam’s and his family’s quality of life by simplifying nutrition and medication administration. The transition to a J-tube was necessary when Liam experienced subclinical seizures, indicating that he was not absorbing his seizure medications properly due to vomiting up formula and medications.
Why I’m an Ambassador: Tammy’s role as an ambassador is driven by her firsthand experiences with the complexities of managing SCN8A, particularly in navigating the healthcare system, making critical care decisions, and advocating for Liam’s needs. Her journey underscores the importance of support, information, and advocacy for families facing similar challenges.
Contact Info: tammy@scn8aalliance.org
Location: New York, USA
Experience with SCN8A:
Clinical Features:
Personal Journey: Mary, now retired, dedicates her life to her family and community, highlighting her role as an SCN8A Ambassador. She draws inspiration from her son, Billy, and her experiences provide a foundation for her involvement and support within the SCN8A community. She is a strong and kind voice within our community bringing vital information and comfort to all SCN8A families she helps
Why I’m an Ambassador: Mary recently volunteered to become an ambassador with SCN8A Alliance in an effort to give back to a community which has provided so much to families as they navigate the world of SCN8A.
Contact Info: mary@scn8aalliance.org
Mary & Billy
Megan & Khloe
Location: Indiana, USA
Experience with SCN8A: Khloe is almost 14 and has been diagnosed a year and a half.
Clinical Features: Autism, epilepsy, behavioral issues, low muscle tone, GI issues, Khloe has a G-J tube, colostomy bag.
Personal Journey: While Khloe is a teenager, she was just diagnosed with SCN8A at 12 years old. This makes her uniquely positioned to help those in similar situations. Since receiving the diagnosis, Megan has become a virtual medical professional in all things SCN8A. Her desire to learn and understand what afflicts Khloe is now an invaluable resource for other families.
Why I’m an Ambassador: Helping families not feel so alone is important. My main goal is to empower families with educational materials for the improved quality of life for their child.
Contact Info: mary@scn8aalliance.org
Location: Indiana, USA
Experience with SCN8A: Khloe is almost 14 and has been diagnosed a year and a half.
Clinical Features: Autism, epilepsy, behavioral issues, low muscle tone, GI issues, Khloe has a G-J tube, colostomy bag.
Personal Journey: While Khloe is a teenager, she was just diagnosed with SCN8A at 12 years old. This makes her uniquely positioned to help those in similar situations. Since receiving the diagnosis, Megan has become a virtual medical professional in all things SCN8A. Her desire to learn and understand what afflicts Khloe is now an invaluable resource for other families.
Why I’m an Ambassador: Helping families not feel so alone is important. My main goal is to empower families with educational materials for the improved quality of life for their child.
Contact Info: mary@scn8aalliance.org
Megan & Khloe
Location: Michigan, USA
Experience with SCN8A: Kristin’s journey with SCN8A began when Peto experienced their first seizure at 8 weeks old. It was a challenging journey that led to a formal diagnosis at the age of 5 years.
Clinical Features: Kristin has a deep understanding of milder forms of SCN8A, including: the complexities of special education support, struggles with reading, academics, and social interactions, low muscle tone, sensory processing challenges, body temperature regulation difficulties, autonomic dysfunction, coupled with absence and focal unaware seizures.
Personal Journey: Initially, most of Peto’s seizures went unnoticed, with the exception of atypical febrile seizures that were expected to cease by the age of 3 or 4. However, these seizures persisted beyond this age, prompting further testing that revealed the SCN8A mutation. The absence seizures were particularly difficult to identify. Just obtaining a genetic test was a fight that included a prolonged six-month battle with the insurance company.
Why I’m an Ambassador: Kristin’s decision to become an ambassador is deeply rooted in her personal experiences. Having navigated the complexities of SCN8A with little guidance, she learned the importance of finding and utilizing her voice. Her background as a social worker is a testament to her commitment to helping others. Kristin is motivated by a desire to “stand in the gap” for SCN8A families, offering support and guidance through their journeys.
Contact Info: kristin@scn8aalliance.org
Kristin & Peto
Elizabeth Bell
Update with info from video
Click HERE for more information on the formation of the new International SCN8Alliance
Click Below for Annual Reports of Wishes for Elliott
Click HERE for more information about the Shay Emma Hammer Foundation
