Ifopa S Digital Tools Making Rare Disease Support More Accessible

Correspondence , Andrea Chang, Quest Diagnostics, 33608 Ortega Highway, San Juan Capistrano, CA 92675, USA. Email: andreafc163@outlook.com Revised 2024 Mar 9; Received 2023 Jul 2; Accepted 2024 Apr 25; Issue date 2025 Feb. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no... While digital tools, such as the Internet, smartphones, and social media, are an important part of modern society, little is known about the specific role they play in the healthcare management of individuals and... Collectively, rare diseases directly affect up to 10% of the global population, suggesting that a significant number of individuals might benefit from the use of digital tools.

The purpose of this qualitative interview‐based study was to explore: (a) the ways in which digital tools help the rare disease community; (b) the healthcare gaps not addressed by current digital tools; and (c)... Individuals and caregivers affected by rare disease who were comfortable using a smartphone and at least 18 years old were eligible to participate. We recruited from rare disease organizations using purposive sampling in order to achieve a diverse and information rich sample. Interviews took place over Zoom and reflexive thematic analysis was utilized to conceptualize themes. Eight semistructured interviews took place with four individuals and four caregivers. Three themes were conceptualized which elucidated key aspects of how digital tools were utilized in disease management: (1) digital tools should lessen the burden of managing a rare disease condition; (2) digital tools should...

These results suggest that digital tools play a central role in the lives of individuals with rare disease and their caregivers. Digital tools that centralize trustworthy information, and that bring the relevant community together to interact and promote trust are needed. Genetic counselors can consider these ideal attributes of digital tools when providing resources to individuals and caretakers of rare disease. Keywords: caregivers, complex disease, digital tools, disability, parents, rare disease by The RxPx Team | Feb 21, 2025 | Articles Rare diseases affect an estimated 3.5-5.9% of the global population and over 300 million people worldwide and present unique challenges for patients such as navigating delayed diagnoses, limited treatment options, and significant hurdles to...

Innovative digital solutions can reduce barriers to therapy and improve adherence, leading to better outcomes and quality of life for individuals suffering from rare diseases, while also enhancing education, empowerment and personalized support. We’ve identified several ways that digital solutions can be leveraged in greater support of rare disease patients. Rare diseases often present with symptoms that mimic more common conditions, leading to misdiagnoses or years-long delays in identification. On average, it can take five to seven years for patients to receive a correct diagnosis, during which patients may undergo unnecessary treatments or experience worsening symptoms. These delays are heightened by limited awareness of rare diseases and the high costs of specialized diagnostics like genetic testing. The complexity of the diagnostic process is further heightened by limited clinical resources, genomic expertise, and workforce shortages and the provision of personalized genetic counseling which leads to longer wait times and delayed diagnoses.

These barriers disproportionately affect marginalized populations, where additional obstacles like low health literacy, distrust in healthcare systems, and inadequate access to care intersect with the already challenging diagnostic process. The International FOP Association (IFOPA) continues to be a vital hub for individuals and families living with Fibrodysplasia Ossificans Progressiva (FOP). As a worldwide nonprofit, its mission focuses on empowering patients through education, research, and direct support. This week, we spotlight how IFOPA builds bridges between continents and clinics to serve the FOP community better. One of IFOPA’s standout features is the FOP Registry—a global tool collecting clinical and patient-reported data that aids in research and treatment development. In addition, IFOPA’s International President’s Council ensures that country-specific voices are heard and included in every effort.

Families from India, Brazil, South Africa, and beyond have found solidarity through IFOPA’s peer connect program, emergency medical guidelines, and caregiver resources. These tools, translated into multiple languages, are removing barriers and offering critical lifelines. Thanks to IFOPA’s commitment, a child diagnosed in a remote village has the same access to information and resources as someone in a large urban hospital. To learn more, visit: https://foptrust.org/For international resources, visit: https://www.ifopa.org/

People Also Search

• IFOPA's Digital Tools: Making Rare Disease Support More Accessible
• Rare Disease Community Conversation - IFOPA - International ...
• Exploring the role of digital tools in rare disease management: An ...
• RxPx | How Digital Technologies Enhance Access for Rare Disease
• Collaborating with the rare disease patient community - Global
• Rare disease patient support in the digital age - Health
• Redefining Rare Disease Care in the Digital Age: Insights and Key ...
• Leave no one behind: Digital user research in rare disease
• IFOPA's Role in Bridging Rare Disease Knowledge Across Borders
• PDF Integration of Digital Health Tools in Rare Disease Management