RareAware Scorecard - Self-assessment, Tailored guidance. Are you Rare? Is your loved one Rare?

AdvocateAngel - a Project of Born A Hero Research Foundation

You can't find a rare disease if you don't look for it! Misguided focus on common conditions leaves patients and caregivers with complex medical issues in prolonged agony and misdiagnosis. The lack of awareness among healthcare providers and parents about the potential for rare diseases results in critical diagnostic delays.

Globally, an estimated 300 million people are living with rare diseases, with nearly 50% experiencing diagnostic delays or misdiagnoses. In the communities we work in, these delays often extend for years, leading to worsening health outcomes and significant emotional and financial strain for families. In the U.S., a survey conducted by the National Organization for Rare Disorders (NORD) found that 50% of patients with rare diseases were initially misdiagnosed, and 40% saw three or more doctors before receiving a correct diagnosis. Nearly one in ten rare disease patients reported visiting more than ten different physicians before receiving an accurate diagnosis. 

Receiving timely care is crucial; early discovery is essential to this. Discovery cannot be achieved simply with existing diagnostic protocols; it requires it requires a veritable sea change in awareness and proactive efforts from both practitioners and patient families.

Critical factors contributing to the problem include:

1. Lack of Awareness: Healthcare providers and parents are often not aware of the potential for rare diseases, resulting in significant diagnostic delays.
2. Misguided Focus: Predominant focus on common conditions overshadows the potential for rare diseases, prolonging the diagnostic process.
3. Proactive Engagement: There is a need for initial steps and strategies to empower patients and caregivers, promoting their own inquiry about screening and pushing the system towards early detection.

By alerting practitioners and families through social media and marketing campaigns, we emphasize the importance of considering rare diseases early on. We stress that overlooking this possibility risks prolonged suffering and misdiagnosis. Providing initial steps and strategies enables patients and caregivers to advocate for themselves, thereby prompting the healthcare system to respond more effectively to rare disease possibilities.

Solution Statement:

People have the power within themselves to shorten their own or a loved one's diagnostic odyssey. ThinkGenetic founder Peter Jacob articulated this concept, and we heartily agree.

Our Solution provides readily accessible tools for self-assessment and education, enabling families to consider rare diseases early in the diagnostic process. The Early Discovery Program offers a SCORECARD system that guides caregivers through identifying key abilities and potential red flags, increasing awareness and encouraging proactive engagement.

The RareAware Scorecard targets patients and caregivers at the early stages of their complex medical journey, often before they may have considered rare diseases. This system includes:

• Guided Assessment: Helps caregivers recognize symptoms and key abilities that may indicate a rare disease.
• Personalized Coaching: Offers support from individuals experienced with navigating the diagnostic and healthcare challenges families face.
• Resource Access: Provides essential information and connections to medical and community resources.

By casting a wider diagnostic net and offering tailored support, our solution ensures timely care for people with rare conditions. Through heightened education and robust support systems, we transform the diagnostic journey and improve outcomes for all.

What Makes Us Unique: Our solution fills a critical gap in the current diagnostic pathway—raising awareness and prompting the consideration of rare diseases from the very beginning. By encouraging early-stage intervention, we prevent rare conditions from being overlooked. This innovative approach sets the stage for broader positive impacts, inspiring other organizations to adopt similar proactive strategies.

By leveraging social media and targeted marketing campaigns, we alert both practitioners and families about the importance of considering rare diseases early on. Our approach not only educates but also mobilizes a proactive community focused on achieving timely and accurate diagnoses. People have the power to change their diagnostic journeys by engaging with our tools and support systems.

Target Population:

Our solution serves individuals and families affected by rare diseases, an often overlooked and underserved group. Because many are unaware they belong to this group, we cast a broader net, including those with complex medical conditions, to help them self-identify.

Current Challenges:

1. Delayed Diagnosis: These individuals frequently experience prolonged, painful diagnostic journeys.

2. Limited Resources: The rarity of their conditions means access to relevant information and expert advice is scarce.

3. Isolation: Social isolation is common as affected individuals struggle to connect with others facing similar challenges.

Impact of Our Solution:

1. Early Detection and Diagnosis:

   Our awareness campaigns and educational resources aim to shorten the diagnostic journey, leading to earlier treatment and better outcomes.

2. Enhanced Medical Navigation:

   Self-assessment tools, workshops, and coaching empower families to navigate complex medical systems with confidence, resulting in informed decisions and improved healthcare experiences.

3. Strong Support Networks:

   Our online platform fosters a supportive community, reducing isolation through peer interactions and shared experiences.

4. Holistic Support:

   We offer comprehensive support, including financial management education and guidance for collaborative healthcare, which enhances quality of life and family stability.

Summary:

Our solution directly and meaningfully improves the lives of those affected by rare diseases and complex medical conditions. By addressing critical gaps in early detection, resource access, navigation, and support networks, we build a more informed, empowered, and connected community.

This project is in Prototype phase.   That means it has been tried and tested with numerous past advocacy patients, colleagues in the Rare Disease nonprofit world, moms and friends in the Craniofacial world (my 'stomping ground',) and colleagues in a Rare Disease NIH research project I'm part of.  I have received feedback from nearly 100 parties in these categories and am ready for full launch.

The benefit of an internet-based scorecard product is that AdvocateAngel has, and can continue to update the product and tools at any stage from prototype to scale.  Based on incoming data, we will add to categories in popular demand and subtract from others.

As an Elementary Educator for 25 years and a Rare Mom for over 20, I can attest to the monumental impact of Early Discovery and Intervention on education and Rare Care. I’ve witnessed outstanding technical innovations in Rare Diagnosis—once a family's data is input into a genomics database, the journey towards a rare diagnosis can begin. However, most families and practitioners don’t consider the possibility of a Rare condition. There are no initiatives encouraging parents to explore Rare Diseases unless they are already connected to a rare disease organization.

RareAware Scorecard is innovative because it targets patients and caregivers at the early stages of their complex medical journey, often BEFORE they may have considered Rare Disease.

Our solution stands out because it fills a critical gap in the current diagnostic pathway—raising awareness and prompting consideration of rare diseases from the very beginning. By casting a wider diagnostic net, we ensure that rare conditions are not overlooked. This early-stage intervention is a game-changer, catalyzing broader positive impacts by encouraging other organizations to adopt similar proactive strategies.

Furthermore, the RareAware Scorecard fosters diversity, equity, and inclusion. This ensures that all families, regardless of socioeconomic status or geographic location, can benefit. Accessible universally by phone or computer, it can be disseminated specifically to underrepresented groups. Features like AI-powered multilingual options, culturally relevant content, and accessibility adjustments (such as text-to-speech and adjustable font sizes) make the scorecard usable by a diverse population. As more diverse individuals use the scorecard and are identified within the rare disease community, their data will contribute to currently unequitable data systems, enriching them with broader demographic representation.

The RareAware Scorecard can transform the healthcare landscape by shifting the focus from reactive to proactive care. By integrating this tool into routine practice, healthcare providers can improve diagnostic accuracy and efficiency, reduce the burden of prolonged misdiagnosis, and foster a more inclusive approach to patient care. Moreover, this model can inspire further innovation and collaboration across the healthcare sector, ultimately leading to a more comprehensive and equitable system for diagnosing and managing rare diseases.

The journey from a prototype scorecard to a launched tool for the rare disease community faces several key barriers. The Amgen Prize's support is crucial for overcoming these challenges and making a meaningful impact on countless lives:

Financial Barriers

Marketing and Dissemination Funds:
Challenge: Securing widespread adoption requires a comprehensive marketing strategy.
Solution: The Amgen Prize will fund dynamic marketing initiatives, ensuring our scorecard reaches and benefits more families who urgently need it.

Staffing and Resources:
Challenge: Expanding operations necessitates skilled personnel for outreach, social media, and coaching.
Solution: Prize funds will enable us to hire and train a dedicated team, empowering our founder and ensuring a successful launch.

Technical Barriers

Platform Development/Maintenance:
Challenge: Building a user-friendly, scalable platform demands significant technical expertise and resources.
Solution: Financial support from the Amgen Prize will allow for advanced technical infrastructure and experienced developers, ensuring the platform is robust, secure, and accessible. AI-enhanced translation will further extend our reach to diverse linguistic communities.

Cultural Barriers

Awareness and Acceptance:
Challenge: Raising awareness and encouraging diverse families to use the scorecard requires culturally sensitive outreach.
Solution: The Prize will fund the creation of targeted, inclusive marketing materials and community engagement programs, making sure all voices are heard and supported.

Educational Outreach:
Challenge: Educating healthcare providers and families about the scorecard’s benefits is essential.
Solution: Prize support will enable impactful educational campaigns and partnerships with healthcare organizations, promoting early diagnosis and better outcomes.

Market Barriers

Competitive Landscape:
Challenge: Gaining traction in a competitive market with established tools.
Solution: Prize funds will help us build a scalable model adaptable to various regions, ensuring broad adoption and long-term sustainability.

Publicity:
The $150,000 prize will not only provide financial support but also invaluable recognition. Speaking at the New York event and leveraging the prize's publicity will open doors to essential relationships and opportunities. We aim to reach 2,000 users and 250 coaching clients by June 2025, transforming lives and setting a new standard in the diagnostic journey.

Conclusion:
The Amgen Prize is pivotal in overcoming financial, technical, cultural, and market barriers, providing the necessary support to transition from a prototype to a fully launched, impactful scorecard. This support will enhance diagnostic journeys and care for those affected by rare diseases, offering hope and solutions to families in need.

As a mother of a child with a rare disease and an educator for 25 years, I have firsthand experience navigating the often treacherous waters of the healthcare system. My journey has been one of resilience and determination, having supported my child through 24 surgeries, culminating in their current thriving health.

In these experiences, I have met countless families who are in dire need of reliable information and effective solutions. Seeing their struggles has deeply impacted me and intensified my drive to create meaningful change. My personal connection to this community ensures that our solution is empathetic, practical, and impactful.

Our team is composed of individuals who share a close connection with the challenges we address. Many of us have either experienced the complexities of rare diseases firsthand or have supported loved ones through similar journeys. This proximity allows us to design solutions that genuinely reflect the community’s needs.

We ensure that the design and implementation of our solution are guided by the community's input, ideas, and agendas. We actively seek feedback and prioritize collaboration with those we aim to support. This approach enhances the relevance of our initiatives and empowers the community, ensuring they have a significant voice in creating positive change.

In summary, our team’s blend of personal experience, professional dedication, and community involvement uniquely positions us to deliver this solution. We are committed to addressing this challenge with compassion, expertise, and a strong partnership with the community.

With medically complex situations and rare disorders, problems not caught early become more serious, more damaging, more difficult to address, and sometimes fatal. Our impact goals focus on transforming these challenges through early intervention and basic skills assessment, leading to significant improvements for both families and institutions.

Families armed with early intervention and basic skills assessment can:

• Speed the path to diagnosis: Early recognition of symptoms leads to quicker, accurate diagnoses.
• Increase effectiveness of medical interventions: Prompt action ensures treatments are more effective.
• Limit financial instability: Early intervention reduces long-term healthcare costs and financial strain.
• Improve social and medical support: Families receive timely support services, enhancing overall well-being.
• Decrease isolation: Creates a support network, reducing feelings of isolation.
• Find community: Connects families with others facing similar challenges.
• Improve home life and family relationships: Strengthens family dynamics through support and education.
• Support good mental health: Addresses mental health proactively, reducing stress and anxiety.
• Improve self-esteem: Empowers families and patients with knowledge and support.
• Reduce frustration: Streamlined processes and resources reduce the frustration of navigating complex medical systems.

Institutions armed with early intervention and basic skills assessment can:

• Speed the path to diagnosis: Efficient diagnostics improve patient outcomes.
• Increase effectiveness of medical interventions: Enhances treatment success rates with early care.
• Optimize resource allocation: Efficient use of resources benefits more patients.
• Strengthen patient-provider relationships: Builds trust and collaboration.
• Reduce provider burnout: Alleviates workload stress with streamlined processes.
• Improve clinical data collection and analysis: Enhances research and care through better data.
• Promote the institution’s reputation as a leader: Recognized for excellence in rare disease care and innovation.

To measure progress:

• Patients complete a baseline Scorecard upon entering the program, and an exit scorecard upon completion. This scorecard, called RareAware: the ABCs of Medical Navigation, establishes baseline skills and remeasures those same skills. Coaching is provided based on scorecard data and patient/caregiver guidance in the following categories:

  • Advocacy: Navigating the healthcare system
  • Backing: Access to resources and support
  • Bank: Financial readiness
  • Collaborative Healthcare Teams: Effective multidisciplinary care
  • Diagnosis: Timely and accurate diagnosis

• Coaching responds to priorities participants choose, tailoring support to meet individual needs.

• 6-month follow-up scorecard compares baseline data to current day, measuring progress and adjusting support as needed.

Early insight programs, such as the RareAware Scorecard, enhance family agility and long-term success in medical environments by providing actionable insights and support.

Theory of Change:

Activities:

1. Conduct awareness campaigns to inform the public about the importance of considering rare diseases early, fostering medical navigation skills, and ensuring that every person's voice is heard.

2. Provide comprehensive self-assessment tools for participants to evaluate their current understanding and areas needing improvement.

3. Facilitate workshops and coaching sessions to support skill development and knowledge acquisition.

4. Develop an online platform for continuous engagement, collaboration, and resource sharing among participants, including facilitating peer-to-peer support and mentorship.

Outputs:

1. Participants complete self-assessment engagement to identify areas of improvement. They prioritize their next most important actions and schedule coaching/collaboration time if they choose.

2. Increased awareness and knowledge among participants about rare diseases and medical navigation skills.

3. Observable increase in advocacy and proactive behavior regarding: rare disease awareness, financial management awareness, consideration of collaborative healthcare teams and applicability to family situation/progress towards diagnosis, and support system amplification.

4. Deeper engagement with coach or Rare Care Hub community broadens connection and actionability of chosen tools.

Outcomes:

1. Improved early detection and diagnosis rates of rare diseases among the public.

2. Enhanced medical navigation skills leading to better healthcare experiences for individuals and families.

3. Strengthened support systems and collaborative healthcare team approaches for those affected by rare diseases.

4. Increased long-term engagement and sustained learning within the Rare Care Hub community.

Supporting Evidence:

1. Data from pre- and post-program self-assessments showing improvements in participants' knowledge and skills.

2. Testimonials and case studies highlighting the positive impact on participants' lives and healthcare experiences.

3. Metrics from the online platform indicating active participation and collaboration among community members.

1 FT Staff (myself!)

1 contract web developer, marketing guru

1 contract social media specialist

8 months

Born A Hero is a Non-Profit Agency committed to Diversity

With few paid positions, and a diverse Board, we welcome diverse experiences, backgrounds, and thoughts as this is what drives our spirit of inquiry and allows us to better connect with the increasingly diverse patients and families we serve.

Our current team is fairly small but includes a culturally varied profile, and a combination of men and women, and naturalized Americans. We continue to look for the best employee for a particular job without regard to gender, sexual orientation or ethnicity.

In addition to our employment practices, it's valuable to note the place of a scorecard in enhancing Diversity Equity and Inclusion amongst Rare Disease Populations and Who Is Counted in medical research. 

A scorecard like RareAware that can be accessed online by phone or computer ensures diversity, equity, and inclusion by making crucial health information accessible to a wide and varied audience. An online scorecard can be accessed from anywhere, ensuring that families in remote or underserved areas can benefit from the tool.  Participants can complete the scorecard at a time that suits them, eliminating the need for travel and accommodating various schedules, and allowing for people with multiple jobs to be counted at a timing that does threaten their employment.  In summary, it breaks down barriers related to geography, language, and socio-economic status, providing a cost-effective, and user-friendly way for families to explore the possibility of a rare disease diagnosis and take proactive steps toward better medical outcomes.

The Scorecard enhances accessibility, cultural sensitivity, and support for a wide range of users, while also being cost-effective and scalable. Planned multilingual options and Spanish multilingual guidance staff help ensure that non-English speaking families can understand and use it effectively.  As scaling of this pototype progresses, content can be tailored to reflect different cultural contexts, making the scorecard more relatable and effective for diverse populations.  

1. Early Insight: We provide families with the RareAware Scorecard, facilitating their early insight into medically complex situations and potential for rare disorders. This tool ensures the prompt recognition xxx leading to quicker and more accurate diagnoses. By focusing on early insights, we can prevent issues from worsening, thereby reducing long-term health risks and financial burdens.

2. Tailored Guidance: Our program includes personalized coaching based on data collected from the RareAware Scorecard. Families receive tailored guidance in navigating the healthcare system, accessing resources, preparing financially, building effective multidisciplinary care teams, and achieving timely and accurate diagnoses. This customized support empowers families with knowledge and confidence, fostering better health outcomes and overall well-being.

3. Progress Monitoring: To ensure continuous improvement and optimal outcomes, we collect and monitor progress data at regular intervals. Patients complete baseline and follow-up scorecards that track their skills and needs over time. This ongoing progress monitoring enables us to provide customized responses to identified priorities, ensuring families receive the necessary support throughout their journey. Through this proactive approach, we help families remain agile and successful in managing their medical environments.

Our diverse funding strategy, combining donations, grants, product sales, and partnerships, ensures not only a stable financial foundation but also the opportunity for sustainable growth. Although we are at the beginning of our journey, we continue to build and maintain strong relationships with our funders, always showcasing the measurable impact of their investments in our programs.