Virtual CTNNB1 Sibshops

CTNNB1 Connect and Cure, Inc.

Rare diseases affect the entire family, including siblings without the disorder. Living with a sibling who has a rare disease is a complex experience, bringing both positive and negative effects. Siblings often shoulder extra care duties, experience heightened concerns, and encounter challenges like disrupted family communication and diminished coping abilities, resilience, and social support. Consequently, they are more prone to psychological issues and a lower quality of life. Siblings are at significant risk of poorer psychosocial functioning. Support for the parents of rare disease patients is becoming a more recognized need, yet the family members who will have the longest-lasting relationship with the rare disease patient, the siblings, are often overlooked. Support for siblings of those affected by the same rare disease is even more scarce due to families being so geographically dispersed. There are only 430 documented cases of CTNNB1 Syndrome, all spread out in different locations around the globe.

Our team has adapted the Sibshops curriculum to provide support to siblings of individuals with CTNNB1 Syndrome despite their geographical distance. Virtual CTNNB1 Sibshops are structured with an intentional balance of activities, discussions, and information sharing. Educators and parents carefully work together to tailor these components to the online setting and then each sibling meeting is facilitated by a certified genetic counselor who has completed Sibshop training. By implementing best practices from both the Sibshops curriculum and online learning, the experience is engaging, community-building, therapeutic, and fun!

Virtual CTNNB1 Sibshops are designed for every CTNNB1 sibling to use, and it has the potential to be adapted to any other rare disease population. Virtual CTNNB1 Sibshops aims to improve the lives of all CTNNB1 siblings, in turn improving the lives of all CTNNB1 patients and their families. Some of the direct benefits are emotional relief, empowerment, and improved family dynamics. The non-judgemental setting gives each sibling a voice, enabling genuine feelings of understanding and acceptance that they may not be experiencing elsewhere. Our pilot program currently serves 7-13 year olds, though we plan to offer it to more age ranges in the future. The model that we are optimizing can easily be adapted to improve the lives of every rare disease sibling, patient, and family.

We have hosted 3 Virtual CTNNB1 Sibshops so far, with an average of 5 siblings in attendance. A new research study that is submitting for publication gathered some useful feedback among participants so far. They found that CTNNB1 siblings have unanswered questions about their siblings with the neurogenetic condition. Siblings want more information about milestones, cause of the symptoms, and the future for the child with the condition (Turnwald et al). We have developed marketing materials to promote more participation and have analyzed the the current virtual platform to assess whether it is meeting the needs of the program. We are still gathering feedback from the participants and the parents of the participants so far, which will be the most informative data for planning future iterations.

The Virtual CTNNB1 Sibshops adapt the existing Sibshops design to create a sustainable network of support for siblings that is not limited by geographical location. Our model has the potential to be replicated among all rare disease populations. As a patient advocacy organization that is well-connected with other similar groups, we are uniquely poised to develop this model and also help implement it across the broader rare disease space.

All of our goals as a rare disease nonprofit face financial barriers. It is an inherent characteristic of this space, no matter how much time and effort we donate. As we grow and connect with others around the world, we need more robust technical infrastructure and translation support. With the Amgen Prize, CTNNB1 Connect and Cure would be able to offer Virtual CTNNB1 Sibshops as well as other support and education to more families around the world. We are planning an in-person conference for 2025 and we would be so honored to use this award to allow more families to access it, whether through travel scholarships or streaming and translator services. We aim to break down as many geographic and monetary boundaries as we can to promote inclusion and community among everyone affected by CTNNB1 Syndrome.

CTNNB1 Connect and Cure has direct and frequent communication with all known CTNNB1 families through established social media groups and our patient registry. The guiding principle of our board of directors is to be representatives of the CTNNB1 community and stewards of their trust. We place high value on the input and ideas of families affected by CTNNB1 Syndrome. Our board has recently undergone a structure change to better represent our community. It consists of 4 males and 5 females, all parents to different aged individuals with CTNNB1 Syndrome. Multiple countries, races, burden of disease, and socioeconomic statuses are represented in our board members. This structure not only ensures diversity in decision-making processes, but it also strengthens our access to the members of our community. The voice of the community is extremely important to CTNNB1 Connect and Cure, especially our Team Lead, Annie Wood. Annie is a certified Sibshops facilitator herself and has a devout passion for connecting with the community. In addition to spearheading the Virtual CTNNB1 Sibshops project, she manages family meet-ups and hosts our CTNNB1 Connect and Cure Podcast.

Impact Goals for the Next Year

1. Increase Program Awareness and Participation

• Goal: Increase the number of participating siblings by 30%.
• Strategy: Enhance marketing efforts through social media, healthcare providers specializing in CTNNB1, and community organizations.
• Measurement: Track the number of new participants and compare it to the previous year’s numbers.

2. Improve Participant Satisfaction

• Goal: Achieve a 85% satisfaction rate among participants.
• Strategy: Conduct regular feedback surveys and implement suggestions for improvement.
• Measurement: Use post-session surveys to gauge satisfaction and identify areas for enhancement.

3. Enhance Emotional and Social Support

• Goal: 80% of participants report feeling more understood and supported.
• Strategy: Incorporate more peer-led discussions and activities that foster a sense of community.
• Measurement: Pre- and post-program surveys assessing emotional well-being and perceived support.

Impact Goals for the Next Five Years

1. Begin Global Reach

• Goal: Establish virtual Sibshops in at least 2 new countries.
• Strategy: Partner with international CTNNB1 organizations and leverage social media to reach a global audience.
• Measurement: Track the number of new countries participating and the number of siblings engaged in each location.

2. Develop Comprehensive Online Resources

• Goal: Create a robust online resource library for siblings and parents, including webinars, coping strategies, and educational materials.
• Strategy: Collaborate with experts to develop high-quality, accessible content tailored to the needs of CTNNB1 families.
• Measurement: Monitor the number of resources created, and feedback from users

Strategies to Achieve Goals

1. Targeted Outreach: Utilize social media, online forums, and partnerships with healthcare providers and genetic disorder organizations to reach potential participants.
2. Engaging Content: Develop interactive and engaging virtual sessions using various online tools and platforms to maintain high levels of participant involvement.
3. Professional Development: Provide training for facilitators on virtual engagement strategies and the specific needs of siblings of children with CTNNB1.
4. Resource Development: Create and distribute digital resources, including videos, articles, and interactive tools, to support siblings and their families outside of the Sibshops sessions.
5. Feedback and Evaluation: Regularly gather feedback from participants and parents to continuously improve the program. Use this data to make informed adjustments and enhancements.

Methods to Measure Success

1. Surveys and Feedback Forms: Implement pre- and post-session surveys to gather data on participant satisfaction, emotional well-being, and perceived support.
2. Attendance and Participation Metrics: Track attendance rates and active participation during sessions to measure engagement.
3. Social and Emotional Assessments: Use standardized tools to measure changes in social and emotional well-being among participants.

Virtual CTNNB1 Sibshops (VCS) provide significant support to CTNNB1 siblings in several ways:

Emotional Support

1. Safe Space for Expression:
   • Benefit: VCS create a safe and supportive environment where siblings can express their feelings, frustrations, and joys without fear of judgment.
   • Impact: This helps siblings feel understood and less isolated, reducing feelings of loneliness and emotional stress.
2. Peer Connection:
   • Impact: These connections can lead to long-lasting friendships and a strong support network, providing emotional relief and camaraderie.
   • Benefit: Connecting with peers who are experiencing similar family dynamics helps siblings feel less alone and more understood.
     

Education

1. Understanding the Disorder:
   • Impact: Increased understanding reduces fear and misconceptions, helping siblings feel more knowledgeable and empathetic.
   • Benefit: VCS provides age-appropriate information about CTNNB1 Syndrome, helping siblings understand their brother's or sister's condition better.
2. Skill Building:
   • Impact: These skills can empower siblings to handle complex emotions and situations more effectively, improving their overall well-being.
   • Benefit: Workshops can include sessions on coping strategies, stress management, and communication skills tailored to their unique challenges.

Activities

1. Fun and Engagement:
   • Benefit: VCS incorporate fun activities and games, providing a break from the often intense and stressful home environment.
   • Impact: Participating in enjoyable activities helps siblings relax, build positive memories, and improve their mood.
2. Teamwork and Collaboration:
   • Benefit: Group activities encourage teamwork and collaboration, fostering a sense of community and mutual support.
   • Impact: These experiences help siblings develop social skills and learn the value of working together, which can be beneficial in various aspects of life.

Empowerment

1. Recognition of Their Role:
   • Benefit: VCS validate the important role siblings play in the family, providing them with recognition and appreciation.
   • Impact: Feeling valued boosts their self-esteem and reinforces their sense of identity and importance within the family.
2. Advocacy and Leadership Opportunities:
   • Benefit: Older siblings can take on leadership roles within VCS, sharing their experiences and mentoring younger participants.
   • Impact: These opportunities can help them develop leadership skills and a sense of responsibility, while also fostering a sense of pride in their contributions.

Long-term Benefits

1. Resilience and Coping:
   • Benefit: Participation in VCS can help siblings build resilience and develop effective coping mechanisms.
   • Impact: Long-term, these skills lead to better mental health outcomes and a more balanced approach to handling stress and challenges.
2. Improved Family Dynamics:
   • Benefit: By addressing the emotional and social needs of siblings, VCS can contribute to a more harmonious family environment.
   • Impact: Improved family dynamics enhances overall family well-being, reducing tension and fostering stronger familial bonds.

Resources

1. Access to Resources:
   • Benefit: VCS can connect families with additional resources, such as counseling services, educational materials, and support groups.
   • Impact: Access to these support resources can enhance their ability to manage the challenges associated with CTNNB1 Syndrome.
2. Ongoing Support:
   • Benefit: Continuous support through regular VCS sessions ensures that siblings have a consistent outlet for their emotions and concerns.
   • Impact: Ongoing support helps in maintaining emotional stability and provides siblings with a reliable support network over time.

A study of past Sibshops participants supports the benefits stated above and found that “The positive effects of the Sibshop program are not only apparent, but enduring.”

Our solution team is made of 5 passionate volunteers: 4 parents of children with CTNNB1 Syndrome and 1 certified genetic counselor. Two of the team members are Sibshops certified, and two are trained educators.

Our team started planning for Virtual CTNNB1 Sibshops in December 2023 and the pilot program officially began in April 2024.

The driving force of all CTNNB1 Connect and Cure programs is its board of directors. It currently consists of 4 males and 5 females, all parents to different aged individuals with CTNNB1 Syndrome. Multiple countries, races, burden of disease, and socioeconomic statuses are represented in our board. Its governance structure not only ensures diversity in decision-making processes, but it also strengthens our organization's access to the members of our community. We are actively working on ways to grow our diversity further by collaborating with other CTNNB1 groups in other countries, and forming a Parent Advisory Board. CTNNB1 Connect and Cure is also focused on ensuring equity and inclusion. Some other projects underway are regular virtual community meetings and translating communications and materials into other languages.

CTNNB1 Connect and Cure was established as a 501c3 nonprofit, registered in Delaware, to find treatments for people with CTNNB1 Syndrome and build community among affected families. CTNNB1 Syndrome is a rare neurodevelopmental disease with no approved treatments yet. The CTNNB1 gene is needed in virtually all cells of the body, so the effects of mutations of this gene are significant. People with CTNNB1 Syndrome have difficulty in all areas of life, including the ability to walk, talk, and think. Several severe conditions are associated with the disease such as retinopathy that can lead to blindness, tethered cord that can lead to nerve damage, and progressive spasticity that can lead to contractures. Some patients experience epilepsy or congenital heart defects. CTNNB1 syndrome presents a vast array of difficulties for the diagnosed individual and their entire family. With fewer than 500 patients known worldwide, it is up to our organization to fund the research and facilitate the connections needed to develop treatments.

Our business model overview is to progress the development of treatments and connect with families by actively fundraising and applying for grants. Most importantly, we are 100% volunteer-led so that our money can be spent directly towards our mission. This requires active recruitment of volunteers who are experienced in the areas of our operations, which fall into three main categories: internal, operations, and external. Our executive team is made of a CEO, a CFO, a COO, and a CCO, and there are 9 voting directors. Since our patient population is spread out all over the world, we place focus on our virtual communications such as our website, social media, and email subscription lists. Our board of directors is similarly spread out, so our meetings and day-to-day interactions are also virtual. Most of the incoming funds are from parent-led fundraising campaigns, so we provide support in their efforts by creating premade resources and using a user-friendly fundraising platform. CTNNB1 Connect and Cure works closely with its Scientific Advisory Board, made of experienced clinicians and researchers, to make sure we are taking the correct steps in the correct order, all so that we can find the best treatments for as many CTNNB1 patients as efficiently as possible. So far, our organization has funded a mouse model, preclinical testing of a novel small molecule treatment in animal models and patient-derived cells, hosted two virtual conferences and one in-person conference, a biomarker study, and in-person clinical evaluations for a natural history study. We actively collaborate with other CTNNB1 organizations around the world as well as organizations of other rare diseases. 

CTNNB1 Connect and Cure is proud to hold Guidestar's Platinum Seal of Transparency. We bring in money mainly through sustained donations and by applying for grants and selling merchandise. We receive donations via the Givebutter platform, Meta / Paypal Giving Fund, Donor Advised Funds, and checks / bank transfers. We have a number of recurring donations and our fundraising team plans and runs campaigns throughout the year that our community is quick to engage in. As evidenced in the "Statements of Activities" sheet below, we have a responsible and sustainable financial history. With estimated new diagnoses and growing awareness in the near future, we expect to have an operational budget that increases each year, outlined in the "Pro Forma Budget" below.