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Written by Claire Inness, scientific services lead, Kristie Marchant, account lead, Meghan Reilly, senior medical writer and Puneet Garcha, account manager, Amiculum

Claire Inness, Kristie Marchant, Meghan Reilly and Puneet Garcha are team members from Amiculum, a global independent healthcare consulting and communications agency. They bring extensive experience in healthcare communications, including significant work in rare disease therapy areas. Their combined expertise spans scientific content development, account leadership and strategic services, enabling the delivery of clear, impactful communications for diverse healthcare audiences

Rare diseases affect millions worldwide, but each only impacts a tiny percentage of the population. Resources are limited, information fragmented and the pathway to diagnosis is long. For patients and their families, navigating this landscape can feel isolating and overwhelming. Artificial intelligence (AI) gives us the opportunity to change this, not only providing patients with scientifically accurate and credible information but tailoring that information specifically for them.

So, how do we get there? We need a dual approach: amplify the lived experience of patients with rare diseases and leverage technology to create individualised, accessible and trustworthy educational resources. This article explores how AI could help achieve this, while addressing potential risks.

The challenges of rare diseases and why patient advocacy from the start matters

Living with a rare disease often means living with uncertainty. Compared with common conditions, resources are scarce, leaving patients and caregivers searching for reliable information and often turning to online sources or social media, where advice can be inconsistent or incorrect.

Even when resources exist, they rarely fit the individual. Symptoms vary, progression differs and treatments may not apply universally. Each case is unique, making tailored resources essential. These challenges are even more pronounced when rare conditions affect children and young people, creating additional specific needs for families and caregivers. Parents want clarity and reassurance while children need simple, relatable explanations.

To address these complexities, patient voices must be central from the start. In rare diseases, patients are often the experts in their condition; their lived experience offers the depth of insights that clinicians and researchers may lack. With small populations and highly diverse communities, every voice matters.

Patients should not be treated as passive recipients but active partners in shaping communications about their conditions. Practical steps such as involving patients in workshops, inviting them as speakers or including them as co-authors help ensure that valuable patient insights are embedded in developing accurate, reliable and meaningful communications for rare diseases.

“After two years of misdiagnosis and multiple surgeries, my husband was finally identified as having a rare gastrointestinal condition. Throughout that journey, his lived knowledge was repeatedly sidelined, with consequences that ranged from prolonged pain to life-threatening crises. Working in healthcare communications, I saw exactly what was missing: patient communications that are truly personalised and designed to elevate the patient’s voice in clinical decision-making. Used responsibly, AI can be the bridge, connecting individual insights to interventions, reducing diagnostic delays and getting people to the right treatments sooner. It’s not just better messaging; it’s better medicine.” Patricia Jones, client partnership team lead, Amiculum

How AI is reshaping rare disease communication

Even with strong patient engagement, scaling the level of personalisation for effective rare disease communication is challenging. AI can bridge this gap by transforming patient insights into tailored, accessible resources at scale.

Through hyper-personalisation, AI can adapt content to individual needs, translating it into multiple formats and simplifying complex science, making information more inclusive and easier to understand. Intelligent chatbots and interactive tools offer on-demand support, ensuring patients can access answers whenever they need them.

As patients with rare diseases often see multiple specialists and experience varied symptoms, a digital health passport that records symptoms, treatments and history could help clinicians quickly understand an individual patient’s background, reducing the need for patients to repeat their story at every appointment. AI can also summarise medical records, easing administrative burdens and improving continuity of care.

Importantly, AI should support, not replace, patient involvement. Gathering insights from patients about what they find useful is essential to inform the best approach and format for communications and education. Early feedback ensures AI adds real value and that patient input guides the design and implementation of digital tools.

Key challenges and risks in using AI for rare disease care

While the promise of AI is exciting, it does come with challenges. Misinformation is a major concern as any communications developed with AI will need rigorous checking to avoid the risk of perpetuating the spread of inaccurate information. Credible materials will also need to work harder to stand out in an ever-increasing sea of unregulated AI-generated content making it difficult for patients to know what’s reliable.

There are also issues around bias and data gaps when using AI to develop rare disease-focused materials. AI models rely on large datasets that don’t exist for these conditions, so tools may miss important details and end up giving generic or less relevant outputs.

Research shows that children as young as six begin forming opinions about medications¹, and that brings unique responsibilities, particularly in rare paediatric conditions. We need to make sure that the resources we develop with the input of AI provide age-appropriate guidance and avoid overwhelming or inaccurate information, and operate in safe, moderated environments that support both children and their families.

Best practices for AI and patient partnerships in rare disease communication

To ensure AI truly benefits rare disease communities, it’s essential to establish robust standards and best practices including:

• co-creation and early involvement: All digital resources should combine accessibility with scientific accuracy, verified through collaboration with patients, advocacy groups and healthcare professionals. Involving patients from the outset ensures resources are relevant, culturally sensitive and tailored to real needs. Initiatives like FH Europe’s patient ambassador roles² ensure content is both relatable and accurate, reflecting real patient experiences.
• secure and accessible platforms: Given the challenges of unregulated content sharing in online spaces like social media, verified AI platforms hosted by pharma or healthcare organisations help ensure that patients and caregivers receive trustworthy, up-to-date information. These platforms should be as engaging and easy to navigate as mainstream content, reducing reliance on less reliable sources.
• age-appropriate and inclusive design: Educational resources and AI tools must be designed with age-appropriate language, safeguards and regulatory oversight. Direct involvement of young patients in content development helps ensure materials are both accessible and empathetic.
• transparency and validation: AI-generated content should always include clear disclaimers and undergo expert review before publication. This transparency builds trust and helps patients and caregivers distinguish credible information from unverified advice.
• diversity and inclusion: AI tools should address language barriers, accessibility needs and representation of under-served groups within rare disease communities.

AI offers the potential to give each patient with a rare disease the individual experience they need and deserve. While risks exist, they can be mitigated, and technology is progressing fast. The FDA’s new “plausible mechanism” pathway³ will enable more personalised data and this, combined with AI, creates powerful opportunities to drive change.

By involving patients early and harnessing new technologies, we can ensure patients get access to content that is:

• easily accessible
• easy to understand and digest
• scientifically accurate and reliable
• authentic and relatable, with lived patient experiences
• curated with patient involvement
• tailored to individuals, including resources for children and caregivers

References:

[1] McGettigan, P., and McKendrick, J. (2011). Children’s understanding of medicines: A review of the literature. British Journal of Clinical Pharmacology. 71(5), 706–713. https://pmc.ncbi.nlm.nih.gov/articles/PMC3056675/
[2] FH Europe Foundation. FH Europe Foundation Ambassador Programme. Available at:https://fhef.org/fh-europe-foundation-ambassador-programme/ [accessed December 2025]
[3] Prasad, V., and Makary, M.A. (2025). FDA’s new plausible mechanism pathway. New England Journal of Medicine. https://www.nejm.org/doi/full/10.1056/NEJMp2309150

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