3q29 Empowerment Network

The 3q29 Foundation

3q29 deletion syndrome is an ultra-rare genetic disorder affecting approximately 1 in 30,000 to 40,000 individuals worldwide. This translates to an estimated 5,000 to 10,000 people globally living with the condition, though many may remain undiagnosed due to limited awareness and understanding of the syndrome. The disorder is characterized by a complex array of physical, cognitive, and behavioral challenges, including intellectual disability, autism spectrum disorder, anxiety disorders, and various health issues such as heart defects, gastrointestinal problems, and seizures.

The primary problem we are addressing is the profound lack of dedicated support, resources, and community for individuals and families affected by 3q29 deletion syndrome. This absence of tailored assistance leaves many families feeling isolated, overwhelmed, and ill-equipped to navigate the unique challenges associated with this rare condition.

Key factors contributing to this problem include:

1. Limited awareness and understanding: Due to the rarity of 3q29 deletion syndrome, many healthcare professionals have limited knowledge and experience in diagnosing and treating the condition. This often leads to delayed or misdiagnoses, inadequate care, and a lack of coordinated support services.
2. Geographic dispersion: With only a few thousand affected individuals worldwide, families with 3q29 deletion syndrome are often geographically isolated from others sharing their experience. This dispersion makes it difficult to form local support networks or access specialized care without significant travel and expense.
3. Information scarcity: There is a dearth of accessible, comprehensive information about 3q29 deletion syndrome. Families often struggle to find reliable resources on managing the condition, understanding its prognosis, and accessing appropriate therapies and interventions.
4. Lack of coordinated care: The multi-systemic nature of 3q29 deletion syndrome requires coordinated care from various medical specialists, therapists, and educators. However, many families report difficulties in navigating the fragmented healthcare system and coordinating care across multiple providers.
5. Emotional and psychological burden: The challenges of caring for an individual with a rare, complex disorder can take a significant toll on the mental health and well-being of patients and their families. Many report feelings of isolation, anxiety, and depression, exacerbated by the lack of understanding from their broader communities.
6. Financial strain: The costs associated with managing 3q29 deletion syndrome can be substantial, including expenses for medical care, therapies, special education, and adaptive equipment. Many families face financial hardship as a result, particularly in regions with limited healthcare coverage or support for rare diseases.
7. Language and cultural barriers: As a global condition, 3q29 deletion syndrome affects families from diverse linguistic and cultural backgrounds. However, most available information and support services are primarily in English, creating additional barriers for non-English speaking families.

These factors collectively contribute to a significant unmet need for comprehensive, accessible support tailored to the unique needs of the 3q29 deletion syndrome community. Our solution directly addresses these challenges by creating a virtual peer-to-peer support network that transcends geographic boundaries, provides multilingual resources and support, and offers personalized guidance from dedicated professionals.

Our solution is a comprehensive, technology-driven peer-to-peer support network designed specifically for the global 3q29 deletion syndrome community. This innovative platform combines virtual connectivity, professional expertise, and multilingual resources to create a holistic support ecosystem for individuals and families affected by this rare genetic condition.

At the core of our solution is a robust virtual meeting series that brings together patients, families, caregivers, and experts from around the world. These regular online gatherings cover a wide range of topics relevant to living with 3q29 deletion syndrome, including medical management, educational strategies, behavioral interventions, and emotional support.

Complementing the virtual meetings is our expanded, state-of-the-art website. This digital hub serves as a centralized repository of information and resources tailored to the 3q29 community. Key features include:

1. A comprehensive resource library with curated, evidence-based information on all aspects of 3q29 deletion syndrome.
2. Moderated discussion forums where community members can connect, share experiences, and offer peer support.
3. A directory of healthcare providers, researchers, and support services specializing in 3q29 deletion syndrome.
4. A calendar of events, including virtual meetings, webinars, and relevant conferences.

To ensure global accessibility, we are implementing a professional translation service to provide our resources and virtual meetings in multiple languages. This innovative approach to language inclusivity sets our solution apart and ensures that families worldwide can benefit from our support network, regardless of their native language.

A key innovation in our solution is the integration of a dedicated social worker into the peer support model. This professional provides personalized guidance, connects families to resources, and helps navigate complex healthcare and support systems. By combining peer support with professional expertise, we create a unique, holistic approach to rare disease support that addresses the multifaceted needs of the 3q29 community.

To ensure the highest quality of support and information, we're establishing partnerships with leading research institutions, healthcare providers, and patient advocacy organizations. These collaborations will enable us to stay at the forefront of 3q29 research and treatment advancements, ensuring that our community has access to the most up-to-date and accurate information.

Our solution is designed with scalability and replicability in mind. We're developing a comprehensive toolkit and training program that will allow other rare disease organizations to adapt and implement our peer-to-peer support model. This focus on knowledge-sharing and collaboration has the potential to transform support systems across the rare disease landscape.

Our solution serves the global community of individuals and families affected by 3q29 deletion syndrome, a rare genetic disorder that impacts approximately 1 in 30,000 to 40,000 people worldwide. This target population includes:

1. Individuals diagnosed with 3q29 deletion syndrome: These individuals face a range of physical, cognitive, and behavioral challenges, including intellectual disability, autism spectrum disorder, anxiety disorders, and various health issues.

2. Parents and primary caregivers: This group includes parents, guardians, and other family members who bear the primary responsibility for caring for individuals with 3q29 deletion syndrome.

3. Siblings and extended family members: The impact of 3q29 deletion syndrome extends to the entire family unit.

4. Healthcare providers and educators: While not the primary target, our solution also serves professionals working with 3q29 individuals.

This population is currently underserved in several critical ways:

1. Lack of information: Families often struggle to find accurate, comprehensive information about 3q29 deletion syndrome, its prognosis, and management strategies.

2. Isolation: The geographic dispersion of affected individuals makes it difficult for families to connect with others sharing similar experiences.

3. Limited access to specialized care: Many families face challenges in finding healthcare providers experienced in treating 3q29 deletion syndrome.

4. Coordination of care: The complex nature of the syndrome requires coordination among multiple specialists, a task that many families find overwhelming.

5. Language barriers: Non-English speaking families face additional challenges in accessing information and support.

Our solution will address these needs and impact their lives in the following ways:

1. Knowledge empowerment: We will provide families with comprehensive, up-to-date information about 3q29 deletion syndrome.

2. Global community building: Our virtual platform will connect families worldwide, fostering a sense of belonging.

3. Access to expertise: We will bring specialized knowledge directly to families, regardless of their location.

4. Personalized support: Our dedicated social worker will provide individualized guidance.

5. Language inclusivity: We will ensure that non-English speaking families can fully participate in and benefit from our support network.

6. Improved quality of life: Our solution aims to improve the overall quality of life for individuals with 3q29 deletion syndrome and their families.

7. Advocacy and awareness: Our community will serve as a collective voice for the 3q29 community, raising awareness and advocating for improved research, care, and support services.

The 3q29 Foundation's peer-to-peer support model is currently in the pilot stage, having been launched within the 3q29 deletion syndrome community and actively serving families affected by this rare condition. The Foundation has established a dedicated Facebook group with over 160 members, providing a proof-of-concept for the value of virtual peer support within this population. This group has been active for several years, facilitating interactions, information sharing, and emotional support among families affected by 3q29 deletion syndrome.

Additionally, the Foundation has conducted initial outreach and engagement efforts, connecting with key stakeholders such as researchers, healthcare providers, and patient advocacy organizations to build partnerships and gather input on the program's design and implementation. We have established a partnership with a research institution specializing in 3q29 deletion syndrome, facilitating knowledge exchange and ensuring our resources are informed by the latest scientific understanding.

We have conducted initial virtual meetings covering topics relevant to the 3q29 community, such as managing anxiety in children with 3q29 deletion syndrome, navigating the education system, and understanding recent research developments. These meetings have attracted participants from our community, demonstrating the demand for such gatherings.

We have also developed a basic website that serves as an information hub for the 3q29 community. While still in its early stages, the website has already attracted visitors, indicating a strong need for centralized, reliable information about the condition.

While the core components of the peer-to-peer support model have been developed and are being piloted, the Foundation recognizes that the program is still in the process of iterating and refining its approach based on feedback from the 3q29 community. The virtual meeting series, expanded website, and integration of a dedicated social worker are all in various stages of development and testing, with plans to continuously improve and adapt these elements based on user experiences and outcomes.

The pilot stage of development reflects the 3q29 Foundation's commitment to a collaborative, iterative approach to building a comprehensive support system for the 3q29 community. By actively seeking feedback, testing new strategies, and refining its model, the Foundation is laying the groundwork for a sustainable, scalable program that can effectively meet the diverse needs of this underserved population and serve as a model for rare disease support worldwide.

As we continue to develop and expand our services, we remain committed to a collaborative, user-centered approach, ensuring that our support model evolves to meet the changing needs of the 3q29 community.

The 3q29 Foundation's peer-to-peer support model is highly innovative in its approach to addressing the unique needs and challenges faced by the 3q29 deletion syndrome community. By combining cutting-edge technology, community-driven solutions, and professional expertise, the program offers a revolutionary vision for rare disease support that sets a new standard for accessibility, inclusivity, and impact.

One of the most groundbreaking aspects of the 3q29 Foundation's model is its emphasis on virtual support and community-building. Recognizing the geographic dispersion and isolation often experienced by rare disease populations, the program leverages accessible video conferencing technology to create a global network of support for 3q29 families. This innovative use of technology breaks down barriers to care and connection, ensuring that all individuals affected by 3q29 deletion syndrome can access the resources and support they need, regardless of location or socioeconomic status.

The 3q29 Foundation's commitment to language accessibility through extensive translation services is another pioneering feature of its peer-to-peer support model. By providing virtual meetings and website content in multiple languages, the program is taking unprecedented steps to ensure that the global 3q29 community can fully participate in and benefit from its offerings. This dedication to linguistic inclusivity sets a new bar for rare disease support and has the potential to catalyze broader efforts to address language barriers in healthcare and advocacy.

The integration of a dedicated social worker into the peer support model is also highly innovative, representing a significant departure from traditional approaches to rare disease support. By combining the power of lived experience with professional expertise, the 3q29 Foundation is creating a holistic, interdisciplinary support system that can address the complex medical, social, and emotional needs of 3q29 families. This innovative fusion of peer support and professional guidance has the potential to transform outcomes and quality of life for those affected by rare diseases.

Finally, the 3q29 Foundation's model is innovative in its scalability and potential for replication. By deliberately designing a program that is simple, cost-effective, and adaptable, the Foundation is creating a blueprint for rare disease support that can be easily implemented by other organizations. This focus on scalability and knowledge-sharing has the power to catalyze systemic change in the rare disease landscape, inspiring a wave of innovation and collaboration that could improve the lives of countless patients and families worldwide.

The 3q29 Foundation is applying to The Amgen Prize because we believe that our innovative peer-to-peer support model has the potential to transform the lives of individuals and families affected by 3q29 deletion syndrome and revolutionize the landscape of rare disease support. However, we recognize that realizing this vision requires significant resources, expertise, and visibility that are currently beyond our reach. The Amgen Prize represents an unparalleled opportunity to overcome these barriers and accelerate our impact on a global scale.

One of the primary challenges we face is securing the financial resources necessary to fully develop and scale our peer-to-peer support program. As a small, volunteer-driven organization, we have limited access to funding streams and often struggle to cover the costs associated with technology infrastructure, website development, translation services, and staffing. The $150,000 in prize funding offered by The Amgen Prize would provide a transformative infusion of capital, enabling us to invest in the critical components of our model and expand our reach to serve more families in need.

Beyond financial support, we also hope that The Amgen Prize can help us overcome technical and knowledge barriers related to program design, implementation, and evaluation. As a relatively new organization operating in the complex field of rare disease advocacy, we recognize that there is much we can learn from the expertise and experiences of others in this space. The mentorship, networking opportunities, and access to best practices offered through The Amgen Prize would be invaluable in helping us refine our model, avoid common pitfalls, and maximize our impact.

Winning The Amgen Prize would also provide a powerful platform for raising awareness about 3q29 deletion syndrome and the unique challenges faced by rare disease communities. The visibility and credibility associated with this prestigious award would help us reach new audiences, attract potential partners and funders, and amplify our message of hope and empowerment for those affected by rare diseases. This increased exposure could be a game-changer in terms of driving research, resources, and policy changes that benefit the 3q29 community and beyond.

Finally, we believe that the cultural significance and innovative spirit of The Amgen Prize aligns perfectly with our mission and values as an organization. By recognizing and elevating groundbreaking solutions in rare disease support, this award sends a powerful message about the importance of patient-centered, community-driven approaches to improving health outcomes and quality of life. Winning The Amgen Prize would validate our work, inspire our team, and fuel our determination to create a brighter future for all those impacted by rare diseases.

The 3q29 Foundation's team is uniquely well-positioned to deliver our innovative peer-to-peer support solution due to our deep personal connections to the 3q29 deletion syndrome community, diverse professional backgrounds, and unwavering commitment to improving the lives of those affected by this rare condition.

At the heart of our team are individuals who have been directly impacted by 3q29 deletion syndrome, either as patients, parents, or family members. This lived experience gives us an intimate understanding of the challenges, needs, and aspirations of the 3q29 community and ensures that our solution is grounded in the realities and priorities of those we serve. Our Board of Directors and key leadership roles are filled by individuals who have walked the path of a 3q29 diagnosis, giving us unparalleled insight into the journey of navigating this complex condition.

Beyond our personal connections, our team brings together a diverse range of professional skills and expertise that are essential for delivering a comprehensive, high-quality support solution. Our leadership includes experienced advocates, healthcare professionals, researchers, and technology experts who have a proven track record of driving change in the rare disease space. This multidisciplinary approach ensures that our program is informed by the latest scientific and clinical knowledge, while also leveraging innovative technologies and advocacy strategies to maximize our reach and impact.

Importantly, our team is deeply committed to centering the voices and experiences of the 3q29 community in all aspects of our work. We actively seek input and feedback from patients, families, and caregivers through surveys, focus groups, and ongoing dialogue to ensure that our solution is responsive to their evolving needs and priorities. Our program development and implementation are guided by a patient-led advisory board, which provides strategic direction and helps to co-design our support offerings. This collaborative, community-driven approach is essential for building trust, fostering engagement, and delivering a solution that truly empowers and transforms lives.

Our team's proximity to the 3q29 community also enables us to tap into a rich network of partnerships and collaborations that amplify our impact. We have established relationships with leading research institutions, healthcare providers, and patient advocacy organizations in the rare disease space, allowing us to leverage shared resources, expertise, and best practices. These connections also help us to identify and engage underserved populations, ensuring that our solution reaches those who may face additional barriers to accessing support.

Ultimately, our team's unique blend of lived experience, professional expertise, community-driven approach, and collaborative spirit positions us to deliver a peer-to-peer support solution that is truly transformative for the 3q29 deletion syndrome community. Our deep understanding of the challenges, our commitment to centering patient voices, and our ability to leverage innovative technologies and partnerships set us apart as leaders in the rare disease support space. Through our work, we aim to create a model of care and empowerment that can be replicated and scaled to benefit the broader rare disease community worldwide.

The 3q29 Foundation's impact goals for the next year and the next five years focus on expanding our reach, deepening our impact, and driving systemic change in rare disease support.

Within the next year, our primary goal is to fully launch and scale our peer-to-peer support program. Specifically, we aim to:

1. Enhance our support infrastructure:
   a. Implement a professional translation service
   b. Hire a full-time social worker
   c. Engage a part-time IT specialist
2. Grow our virtual support network to 500 members.
3. Deliver 12 virtual meetings, engaging at least 50% of our network members.
4. Launch our expanded website, featuring a resource library, discussion forums, and provider directory.
5. Provide personalized assistance to at least 100 families.
6. Establish partnerships with at least 5 leading organizations to enhance our support offerings.

To measure progress, we will track quantitative and qualitative metrics, including membership growth, event attendance, website traffic, and user feedback.

Looking ahead to the next five years, our goals focus on transforming rare disease support and empowering the global 3q29 community. By 2028, we aim to:

1. Engage 2500 individuals in our peer-to-peer support network.
2. Deliver 60 virtual meetings with expert speakers.
3. Achieve a monthly average of 5000 unique website visitors.
4. Provide personalized support to 500 families and expand our social work team.
5. Establish a global network of 10 partner organizations.
6. Develop a toolkit for other rare disease organizations to replicate our model.
7. Secure sustainable funding streams through grants, sponsorships, and donations.

To achieve these goals, we will pursue a strategic growth plan and invest in continuous improvement processes.

Our vision is to create a world where every individual affected by 3q29 deletion syndrome has access to the knowledge, support, and resources they need to thrive.

The 3q29 Foundation's peer-to-peer support solution aims to have a transformative impact on individuals and families affected by 3q29 deletion syndrome. Our model is grounded in the belief that providing accessible, comprehensive, and community-driven support can improve outcomes and quality of life for those impacted by this rare condition.

Research shows that peer support can reduce isolation, improve coping skills, and enhance self-efficacy among individuals with rare diseases (Doyle, 2015; Plöderl & Hengartner, 2019). Our virtual network fosters a sense of belonging and empowerment for the global 3q29 community.

Our virtual meeting series provides families with critical information and expertise on topics ranging from medical management to social-emotional support. These meetings equip families with knowledge and skills to advocate for their needs and make informed decisions.

Our expanded website addresses information gaps by offering a comprehensive resource library, discussion forums, and a provider directory. This centralized hub empowers families to navigate complex healthcare systems and take an active role in their care.

The integration of a dedicated social worker offers personalized guidance, case management, and advocacy support, creating a holistic safety net for families.

Our solution is designed for scalability and replicability, aiming to create a blueprint for rare disease support that can be implemented globally. This potential for widespread adoption drives our theory of change, recognizing that transforming the rare disease landscape requires collective effort and knowledge-sharing.

We expect our solution to reduce isolation, improve access to care, and enhance overall well-being for those affected by 3q29 deletion syndrome, creating a ripple effect that extends to the broader rare disease community.

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The 3q29 Foundation has been developing our peer-to-peer support solution for about 3 years, building on earlier informal support efforts of our founding members.

For over a decade, our core team members have been involved in grassroots efforts to support families affected by 3q29 deletion syndrome, including participating in online forums and counseling newly diagnosed families.

Our Facebook group, established 5 years ago, serves as the foundation of our current online community. It has been crucial in connecting families and identifying community needs.

The 3q29 Foundation is committed to building a diverse team and fostering an inclusive environment where all members can thrive. As a volunteer-driven organization primarily composed of family members affected by 3q29 deletion syndrome, we recognize the unique challenges and opportunities this structure presents in terms of ensuring diversity, equity, and inclusion.

Our current team is small and consists mainly of individuals personally connected to the 3q29 community. However, we have taken steps to ensure that our leadership roles are filled by people with diverse identities, backgrounds, and experiences. Our Board of Directors and key advisory positions include individuals of different genders, ages, geographic locations, and professional backgrounds, bringing a range of perspectives to our decision-making processes. We actively seek out and value the input of underrepresented voices within the 3q29 community.

As we grow our organization and potentially hire paid staff, we are committed to applying the principles of diversity, equity, and inclusion to our recruitment and employment practices. This will involve developing comprehensive policies and procedures that prioritize fairness, transparency, and equal opportunity in our hiring processes, such as conducting blind resume reviews, standardizing interview questions, and actively seeking out candidates from diverse backgrounds and networks.

We will strive to create an inclusive work environment that values and supports the well-being and professional growth of all team members. This will include providing ongoing training and education on topics related to diversity, equity, and inclusion, as well as establishing clear channels for open communication, feedback, and conflict resolution. We will also prioritize the development of flexible work arrangements and benefits that accommodate the diverse needs and circumstances of our team members.

As we expand our technology and social work capabilities, we will ensure that our services and platforms are designed with accessibility and inclusivity in mind. This will involve conducting user testing with diverse populations, providing materials in multiple languages, and incorporating features that accommodate different abilities and learning styles.

We recognize that building a diverse and inclusive organization is an ongoing journey that requires continuous learning, reflection, and improvement. We are committed to regularly assessing our progress and soliciting feedback from our team members, partners, and the communities we serve. We will establish clear metrics and accountability measures to track our diversity and inclusion efforts, and we will transparently communicate our successes, challenges, and plans for improvement with our stakeholders.

Our goal is to create an organization that reflects the diversity of the 3q29 community and actively works to dismantle barriers to opportunity and empowerment for all individuals affected by rare diseases. By embedding the principles of diversity, equity, and inclusion into every aspect of our work, we aim to set a new standard for what a truly inclusive rare disease organization can look like.

The 3q29 Foundation operates on a non-profit model, providing free support services to individuals and families affected by 3q29 deletion syndrome. Our business model centers on creating value through community building, knowledge dissemination, and personalized support.

Beneficiary Segments:
Our primary beneficiaries are individuals diagnosed with 3q29 deletion syndrome and their families. These beneficiaries are globally distributed, often geographically isolated, and face unique medical, educational, and social challenges.

Social and Customer Value Proposition:
At the core of our services is a virtual peer support network, primarily through our established Facebook group with over 160 members. We have begun complementing this with initial virtual meetings covering relevant topics for the 3q29 community.

We have developed a basic website serving as an information hub for the 3q29 community, providing curated, reliable information about 3q29 deletion syndrome.

For potential donors and partners, we offer the opportunity to make a tangible difference in the lives of families affected by a rare genetic condition.

Impact Measures:
We measure our impact through membership growth, engagement metrics, attendance and feedback from virtual meetings, and anecdotal evidence of improved knowledge and reduced isolation.

Service Delivery:
We leverage technology to reach our global audience efficiently. We have established a partnership with a research institution specializing in 3q29 deletion syndrome and mobilize a network of dedicated volunteers to support our programs.

Need for Services:
Our beneficiaries require these services due to the unique challenges posed by 3q29 deletion syndrome, including isolation and lack of accessible information.

Surplus:
As a new, volunteer-driven organization, we have not yet generated significant surplus. Any funds raised are reinvested into maintaining our current services.

Our value proposition is to empower the 3q29 community with knowledge, connections, and support. We have sustained this model through volunteer efforts and small-scale fundraising within our community.

We are still in the early stages of our development, focusing on refining and expanding our existing services based on community feedback and needs.

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5. Merchandise: We are exploring the development of awareness-raising merchandise (e.g., t-shirts, bracelets) that could provide a small but steady revenue stream while also increasing visibility for 3q29 deletion syndrome.

6. Government Funding: In the long term, we aim to secure government grants or contracts, particularly for research initiatives or patient support programs. We are building relationships with relevant government agencies to position ourselves for these opportunities.

Evidence of Success:
While our financial sustainability plan is still in its early stages, we have seen encouraging signs of its potential success:

1. Community Support: Our initial fundraising efforts have demonstrated strong support from within the 3q29 community. The $5,000 raised so far represents contributions from approximately 15% of our current member base, indicating a willingness to financially support our mission.

2. Volunteer Engagement: We have successfully mobilized a dedicated team of volunteers, including medical professionals and researchers, who contribute their time and expertise. This in-kind support significantly reduces our operational costs and enhances the credibility of our organization.

3. Partnership Development: Our established partnership with a leading research institution specializing in 3q29 deletion syndrome has opened doors for potential funding opportunities and collaborative research projects.

4. Growing Demand: The steady growth of our Facebook group (now over 160 members) and increasing engagement with our virtual meetings demonstrate a clear demand for our services, which strengthens our case for funding from various sources.

5. Cost-Effective Model: Our current operations have been maintained with minimal financial resources, demonstrating our ability to efficiently utilize funds and deliver impact on a lean budget.

As we move forward, we are focused on building our organizational capacity to pursue larger grants and partnerships. We are developing a comprehensive fundraising strategy and assembling a dedicated fundraising team to drive these efforts. While we are still in the early stages of our financial sustainability journey, we believe our multi-faceted approach and the demonstrated need for our services position us well for future growth and stability.