TCSF SCN8A Regional Engagement and Advocacy Initiative

The Cute Syndrome Foundation

The SCN8A community, despite its global presence with 527 identified patients in 53 countries and 245 in 43 U.S. states, faces challenges due to the diverse spectrum of symptoms ranging from severe neurological issues to subtle manifestations such as autistic behaviors and/or cognitive delays. Early diagnosis typically occurs in severe cases, while those with milder symptoms may be misdiagnosed or diagnosed later in life. The limited diversity within The Cute Syndrome Foundation (TCSF) families suggests that under-diagnosed communities may struggle to connect with patient advocacy organizations, potentially leading to undiagnosed individuals and/or delayed support. The TCSF SCN8A Regional Engagement and Advocacy Initiative aims to address these issues by targeting under-diagnosed populations, enhancing awareness, connecting patients with international resources, and collaborating with global groups to better serve the diverse cultural needs of international patients and families.

To address the challenges faced by the SCN8A community, a comprehensive solution involves several key initiatives including:

1. Enhancing outreach and education by implementing targeted outreach campaigns to raise awareness about SCN8A across diverse communities and regions. This includes sharing resources aimed at healthcare providers to improve early diagnosis and accurate recognition of SCN8A symptoms, ensuring timely intervention and support

2. Developing and expanding support networks within TCSF and globally to reach underserved and under-diagnosed populations. This includes establishing regional support groups, online forums, and helplines accessible in multiple languages to provide guidance, resources, and social-emotional support to patients and families worldwide.

3. Forging partnerships with international organizations, clinicians, and researchers to share knowledge, resources, and best practices in SCN8A diagnosis and management. This collaborative effort enhances the quality of care and support available to SCN8A patients globally, fostering a unified approach towards improving outcomes.

4. Recognizing and addressing the unique cultural and linguistic needs of international patients and families through culturally sensitive resources and services. This ensures that support and information are accessible and relevant to diverse populations, facilitating better engagement and understanding.

By implementing these four strategies, the TCSF SCN8A Regional Engagement and Advocacy Initiative can effectively mitigate challenges faced by the SCN8A community, enhance awareness, support early diagnosis, and improve overall quality of life for patients and families globally.

SCN8A-related disorders are genetic conditions caused by mutations in the SCN8A gene, which encodes a sodium channel critical for the proper functioning of neurons in the brain. These disorders present with a spectrum of symptoms that primarily affect neurological development and function.

Seizures are typically present and they onset in infancy or early childhood. These seizures are often refractory (difficult to control) and can manifest as various types including focal seizures and spasms. Developmental delay or regression is almost always present in children with SCN8A mutations. Children often experience delays in reaching developmental milestones. In some cases, there may be a regression of previously acquired skills. All affected individuals develop some degree of intellectual disability, ranging from mild to severe. Common motor symptoms include hypotonia (low muscle tone), dystonia (involuntary muscle contractions), hyperreflexia (overactive reflexes), and ataxia (lack of muscle coordination).

There is no predictable disease progression, making it challenging to manage and treat effectively. Patients show varying responses to commonly used anti-epileptic medications, often requiring multiple trials to find an effective treatment regimen.

The condition significantly affects the quality of life for both the patient and their family members. Some less severe impacts include sleep disturbances and behavioral challenges. While some individuals may require complex medical interventions such as gastrointestinal problems necessitating tube feeding, breathing difficulties requiring a tracheostomy tube, and an increased risk of early death. Families often face frequent hospitalizations, numerous surgeries, and substantial mental health challenges due to the demands of caring for an affected individual.

SCN8A-related disorders present a complex clinical picture characterized by early-onset seizures, developmental delay, intellectual disability, and a range of neurological and physical symptoms. The unpredictable nature of the condition and the varied treatment responses underscore the significant challenges and isolation faced by affected individuals and their families.

TCSF currently offers a wide breadth of resources, grants, and programs, but they are most commonly utilized by SCN8A families residing in North America. Engaging bilingual regional advocates in other parts of the world will allow us to better serve those outside of North America. Advocates can provide input as programs and services are designed, and translate and disseminate essential communications.

The SCN8A community includes many underemployed caregivers who often experience isolation. By offering a stipend and training to Regional Advocates, this role allows caregivers to maintain professional skills while still serving as the primary carer for their loved ones with SCN8A. This solution aims to alleviate isolation by promoting community and connection among SCN8A patients and their families. Ultimately promoting community and connection for SCN8A patients and their families.

The mission of TCSF is to raise awareness of SCN8A mutations, fund the dedicated and talented scientists researching SCN8A, and support the families around the world who are affected by this disorder. 

The TCSF SCN8A Regional Engagement and Advocacy Initiative is in early development stages, with foundational elements like job roles, recruitment strategies, and communication plans established. Infrastructure for managing volunteers and their roles is set up to coordinate efforts effectively across 17 regions, encompassing 527 patients. Existing programs and resources are actively supporting 40% of the identified SCN8A population, highlighting successful engagement efforts thus far.

This solution approaches the challenges faced by the SCN8A community in a new and significantly improved way by integrating several innovative strategies including targeted and inclusive outreach. Rather than a one-size-fits-all approach, the solution focuses on targeted outreach to underdiagnosed and underserved populations. By identifying and addressing specific barriers to diagnosis and support, such as cultural and linguistic differences, the solution ensures that all SCN8A patients and families, regardless of background, have access to relevant information and resources.

The emphasis on collaboration with international organizations, clinicians, and researchers fosters a collective effort to improve understanding and management of SCN8A globally. This approach not only accelerates the pace of research and innovation but also promotes the sharing of best practices and resources across borders, benefiting the entire rare disease community.

Recognizing and accommodating cultural differences in healthcare preferences and practices is a novel aspect of this solution. By providing culturally sensitive and responsive support services and resources, the solution enhances trust and engagement within diverse communities, potentially increasing participation in research studies and clinical trials.

By demonstrating the effectiveness of collaborative efforts and knowledge sharing, this solution could inspire other organizations in the rare disease space to adopt similar cooperative approaches. This could lead to accelerated progress in understanding and treating other rare conditions.

The focus on addressing disparities in diagnosis and support services could set a precedent for healthcare providers and advocacy organizations worldwide. The hope is that this would prompt a shift towards more equitable healthcare practices and policies, benefiting not only rare disease patients but also underserved populations in general.

Through enhanced collaboration and advocacy for research funding, the solution could spur innovation in SCN8A treatment options and diagnostic tools. This may result in attracting more researchers and pharmaceutical companies to invest in rare disease research, potentially leading to breakthrough therapies that benefit patients globally.

This solution approaches the challenges of SCN8A in a holistic and forward-thinking manner, leveraging targeted outreach, global collaboration, cultural responsiveness, and advocacy for policy change. Its innovative approach has the potential to catalyze broader positive impacts within the rare disease space, changing the landscape by promoting inclusivity, collaboration, and innovation in rare disease research, diagnosis, and treatment.

The Amgen Prize presents a crucial opportunity to address several barriers that our organization faces in supporting families affected by SCN8A-related disorders. Here are specific ways in which the prize could help overcome these challenges:

Stipends for Volunteers: Many of our volunteers are parents and caregivers who dedicate significant time and effort to support affected families. However, their caregiving responsibilities often prevent them from pursuing paid work outside the home. A stipend from The Amgen Prize would enable us to compensate these volunteers, allowing them to commit more fully to providing essential services. This financial support could cover their time spent on family support activities, attending events, and participating in advocacy efforts.

Support for Program Development: The prize funds could be allocated towards hiring a development officer who can manage and expand our programs effectively. This includes creating branded resources by contracting with professionals, enhancing our digital infrastructure (Zoom account, JotForm, and Patient Registry), and covering printing and shipping costs for materials distributed to families. Additionally, resources could be allocated for marketing and advertising campaigns to reach underserved communities more effectively, ensuring that our support reaches those who need it most.

Professional Development and Training: Funding from The Amgen Prize would support ongoing professional development and training for our advocates and volunteers. This includes leadership education, advocacy training, and skills development workshops, ensuring that our team is well-equipped to provide informed and effective support to families.

Coordinated Outreach Campaigns: Financial support would enable us to execute coordinated outreach campaigns, including attendance at regional events and conferences relevant to SCN8A disorders. This outreach would extend to social media campaigns, clinician and service provider outreach efforts, and translation services to ensure accessibility for non-English speaking communities.

Operational Support: The prize funds could be utilized for program operations such as infrastructure upgrades, onboarding new volunteers, and providing travel stipends for advocates attending key events or visiting families in need of support.

Overall, The Amgen Prize would significantly enhance our organization's ability to serve the SCN8A community by overcoming financial, technical, cultural, and market barriers. It would empower us to expand our reach, improve service delivery, and provide critical support to families facing the challenges of SCN8A-related disorders.

TCSF is uniquely positioned to deliver this solution due to our Executive Leadership team's personal experiences as caregivers, bereaved parents, and siblings of SCN8A patients. This firsthand knowledge ensures we deeply understand the daily challenges our families face and what support they truly need. We actively engage with the community through various channels like online support groups, newsletters, virtual meetups, and surveys, maintaining a continuous dialogue to stay informed about evolving needs.

Under the leadership of Kacie Craig, our Executive Director, who embodies our growth model, we bridge the gap between families and the Board of Directors, ensuring our initiatives align closely with community needs. Kacie's collaborative leadership style fosters a culture of empowerment and feedback, empowering volunteers and leveraging their talents effectively. Our organization has a proven history of involving volunteers in planning and personal development, which strengthens our advocacy efforts and leadership pipeline.

With over four years of collaborative teamwork, we have achieved significant success, and our community's longstanding request for this program demonstrates its necessity and our readiness to implement it effectively. TCSF remains agile, adapting our strategies based on community feedback to meet the dynamic needs of SCN8A patients and their families.

Goals for the Next Year and Next Five Years:

1. Increase volunteer engagement and commitment by providing stipends to compensate for their time and effort. TCSF will track volunteer retention rates, hours contributed, and feedback on the impact of stipends on their ability to participate. TCSF will allocate funds from The Amgen Prize towards stipends for volunteers based on their level of involvement and hours contributed and monitor and assess the impact through regular surveys and feedback sessions.

2. Enhance program development and expand reach to more SCN8A-affected families globally. TCSF will measure the expansion of program reach through new registrations, participation rates in events and programs, and feedback from newly served families. TCSF will allocate prize funds towards hiring a development officer to manage program expansion and branding efforts. Investing in digital infrastructure improvements (Zoom, JotForm, Registry) and materials printing/shipping and targeted marketing campaigns to reach underserved communities, with metrics tracked through increased engagement from targeted demographics.

3. Improve the skills and effectiveness of advocates and volunteers through professional development. TCSF will assess volunteer satisfaction with training programs, track participation rates in workshops, and measure the application of new skills in family support. TCSF will utilize prize funds for leadership education, advocacy training, and skills development workshops and regularly evaluate training effectiveness through participant feedback and application of learned skills in their volunteer roles.

4. Increase community awareness and engagement through coordinated outreach efforts. TCSF will monitor attendance at events, social media reach, and feedback from community stakeholders on the impact of outreach activities. TCSF will fund coordinated outreach campaigns including regional events, conferences, social media campaigns, and translation services. Evaluate success through increased event participation, social media metrics, and qualitative feedback from stakeholders.

5. Strengthen operational capabilities to sustain and expand program initiatives. TCSF will assess improvements in infrastructure, volunteer onboarding efficiency, and the ability to support advocates attending key events. TCSF will allocate prize funds towards operational upgrades, volunteer onboarding processes, and travel stipends for advocates. Monitor operational efficiency through metrics such as reduced onboarding time, improved infrastructure reliability, and increased advocate participation in events.

Measurement and Achievement Strategies:

Quantitative Metrics: Use quantitative metrics such as volunteer hours logged, new registrations, event attendance, social media reach, and operational efficiency metrics (e.g., onboarding time).

Qualitative Feedback: Gather qualitative feedback through surveys, interviews, and focus groups with volunteers, families, and stakeholders to assess program impact, volunteer satisfaction, and community outreach effectiveness.

Regular Evaluation: Implement regular evaluations of program components, training effectiveness, and outreach campaigns to adjust strategies based on feedback and ensure continuous improvement.

Performance Targets: Set specific targets for each goal and regularly review progress towards these targets. Adjust strategies and resource allocation as needed to maximize impact and achieve goals effectively.

By focusing on these goals and employing robust measurement and achievement strategies, TCSF can leverage the prize funds effectively to advance its mission and better serve SCN8A-affected families worldwide.

The solution aims to make a significant impact on supporting families affected by SCN8A mutations by addressing several key areas:

Increasing Volunteer Commitment: By providing stipends to volunteers, many of whom are caregivers themselves, we can ensure they have the time and resources to dedicate to supporting other families. This will lead to more consistent and reliable support for those who need it.

Expanding Program Effectiveness: By investing in program development and outreach, we can reach more SCN8A-affected families globally. This means more families will have access to essential resources, support services, and community connections.

Enhancing Professional Development: Training our volunteers and advocates ensures they have the skills and knowledge to provide effective support. This will improve the quality of assistance families receive and empower volunteers to better advocate for their needs.

Strengthening Outreach and Engagement: Coordinated outreach efforts, including events, social media campaigns, and partnerships with healthcare providers, will raise awareness about SCN8A disorders. This will help connect more families with the support and resources they need.

Ensuring Sustainable Operations: Improving our operational capabilities ensures we can sustain our efforts over the long term. This includes upgrading infrastructure, streamlining volunteer processes, and supporting advocates attending key events.

Overall, these efforts are expected to have a positive impact by creating a more supportive and connected community for SCN8A families. By addressing these areas, we aim to make a meaningful difference in the lives of those affected by SCN8A mutations, ensuring they receive the care, support, and advocacy they deserve.

Contract workers - 4

Part-time volunteers - 2

We have been working on this solution for 5 years.

At TCSF, ensuring diversity, minimizing barriers to opportunity, and fostering a welcoming environment for all team members are central to our organizational ethos and operational practices:

1. Diverse Representation: Our governance structure, including the Board of Directors, is intentionally diverse. It includes individuals from various backgrounds, including parents, a lawyer grandparent, and a balanced representation of men and women. This diversity ensures a broad perspective in decision-making and governance.

2. Staff and Volunteer Diversity: Our staff and executive volunteers consist of female parents and siblings of children with different SCN8A phenotypes, sexes, and ages. We also include bereaved parents, ensuring a range of experiences and perspectives that reflect our community's diversity.

3. Inclusive Outreach: In our outreach efforts, we engage with a wide-ranging community spanning 53 countries, with significant participation from diverse backgrounds in the US across 42 states. Our programs, including the Annual Gathering, grief support, and social and emotional programming, are designed to cater to the varied needs of our community members.

4. Comprehensive Support Programs: We employ various initiatives such as surveys, webinars, educational sessions, and personal development opportunities for parents and caregivers. These efforts ensure a comprehensive approach to patient advocacy and support, addressing diverse needs effectively.

5. Equitable Funding Practices:  When awarding funds, we prioritize equity and do not consider factors such as race, nationality, gender, sexuality, or socioeconomic status. This approach ensures fair access to resources, acknowledging the varied economic contexts within our community and promoting inclusivity.

6. Accessibility Initiatives: We enhance accessibility by providing information in multiple formats, utilizing accessible technology, and ensuring physical spaces are accommodating. Regular needs assessments help us identify and address barriers, ensuring our programs and services are accessible to all community members.

7. Commitment to Continuous Improvement: We conduct ongoing assessments to identify and mitigate barriers, promote inclusivity, and enable broader participation within our community. This commitment ensures that our organization evolves to better serve the diverse needs of SCN8A-affected families.

In essence, at TCSF, inclusivity is promoted through diverse representation, equitable practices, comprehensive support programs, and proactive accessibility initiatives. These efforts create an environment where every team member and community member feels respected, valued, and empowered to contribute to our shared mission effectively.

The TCSF business model revolves around providing comprehensive support and advocacy for families affected by SCN8A mutations, focusing on delivering tangible value through various products and services tailored to their needs.

The key beneficiaries are the families affected by SCN8A Mutations. These families are at the core of our mission. They benefit from our extensive support programs, including grief support, social and emotional programming, and educational resources tailored to different age groups and phenotypes.

TCSF Products and Services:

• Support Programs: Including grief support, social and emotional programming, educational webinars, and personal development opportunities for caregivers and parents.
• Annual Gathering: Bringing together families for networking, learning, and mutual support.
• Advocacy and Awareness: Engaging in advocacy efforts to raise awareness about SCN8A disorders, influencing policy, and promoting research funding.
• Financial Support: Providing stipends and funding for families to participate in programs, attend events, or access necessary technologies and equipment.

How We Provide These Products and Services:

• Online Platforms: Utilizing digital platforms for webinars, support groups, and educational resources, ensuring accessibility globally.
• In-Person Events: Organizing the Annual Gathering and regional events to foster community and provide direct support.
• Advocacy Efforts: Collaborating with policymakers, researchers, and healthcare providers to advocate for better resources and support for SCN8A families.

Why They Want or Need Them:

• Holistic Support: Families facing SCN8A mutations often deal with complex emotional, financial, social, and practical challenges. Our programs provide holistic support that addresses these diverse needs.
• Community and Connection: Many families seek a sense of community and connection with others who understand their experiences, which our gatherings and online support networks provide.
• Advocacy and Awareness: By advocating for increased research funding and policy changes, we contribute to improving outcomes and understanding of SCN8A disorders, directly benefiting our community.

In summary, TCSF's business model is centered on providing impactful support, advocacy, and community-building initiatives tailored to the diverse needs of SCN8A-affected families. Through a combination of direct support services, advocacy efforts, and community engagement, we aim to enhance the quality of life for our beneficiaries and drive positive change in the SCN8A community globally.

Our plan for achieving financial sustainability at TCSF revolves around diversifying revenue streams and optimizing resource allocation. Here are the key elements of our strategy:

Diversifying Revenue Streams:

• Grants and Funding: Continuously seek new grants and retain existing from foundations, corporations, and governmental agencies that support medical research, rare diseases, and patient advocacy.
• Corporate Sponsorships: Forge new and retain existing partnerships with corporate sponsors aligned with our mission, leveraging their support through sponsorships and donations.
• Individual Donations:Cultivate new relationships and continue existing relationships with individual donors through targeted fundraising campaigns, events, and personalized outreach.
• Fundraising Events: Organize fundraising events such as galas, walks, and online campaigns to engage supporters and generate revenue.

Optimizing Resource Allocation:

• Efficient Operations: Streamline operational processes and invest in technology to improve efficiency and reduce overhead costs.
• Impact Measurement: Regularly evaluate the impact of our programs and initiatives to demonstrate effectiveness to donors and stakeholders.
• Volunteer Engagement: Maximize the impact of volunteer efforts by providing training, recognition, and meaningful roles within the organization.

Long-term Sustainability Measures:

• Partnerships and Collaborations: Collaborate with other Patient Led Organizations, research institutions, and healthcare providers to leverage resources and expand our reach.
• Strategic Planning: Develop and implement a strategic plan that includes financial goals, diversification strategies, and sustainability metrics.

Evidence of Success:

• Grant Success: Documented history of successfully securing grants from reputable foundations and organizations, reflecting confidence in our mission and programs. Grants received in 2021 total $9,463 and in 2023 $10,265.
• Corporate Partnerships: Established partnerships with In that provide financial support and in-kind donations, demonstrating external validation and support for our cause. Corporate Sponsorships in 2021 total $130,000 and in 2023 $141,000.
• Individual Giving: Growth in individual donor base and increased donations over time, indicating strong community support and trust in our organization. Individual Donations in 2021 total $80,000 and in 2023 $129,385.
• Event Success: Successful execution of fundraising events with increasing participation and funds raised, showing effective engagement and fundraising capabilities.
• Operational Efficiency: Improved operational efficiency and reduced administrative costs, allowing more resources to be directed towards programmatic activities.

In summary, our approach to financial sustainability combines diversified revenue streams, efficient resource allocation, and strategic planning to ensure long-term viability and continued impact in supporting SCN8A-affected families. The evidence of our success lies in our ability to secure funding, engage supporters, and effectively manage resources to achieve our mission and goals.

List of Corporate Sponsors and Grants:

• Neurocrine Biosciences

• Praxis Precision Medicine

• Zogenix, Inc

• Greenwich Biosciences, Inc

• NORD

• Global Genes

• GenEp

• PAME

• CarVal