Rare diseases as a specialism
Rare-disease writing offers varied clients and deliverables, a steep learning curve and close engagement with patients and families. Entering the field involves understanding its commercial opportunities, developing scientific and interpersonal skills, and finding routes into paid or voluntary work.
Industry investment
The Orphan Drug Act of 1983 gave pharmaceutical companies incentives to develop drugs for rare diseases and stimulated innovation, particularly in genetic diseases and cancer. By 2020, regulatory advantages, cheaper research through smaller studies and reduced marketing needs had made orphan drugs attractive to industry; oncology and genetics had the largest pipelines, but every therapeutic area had grown.
Publications on rare or orphan diseases rose from fewer than 2,000 in 1996 to around 6,000 in 2012 to 2014. In 2023, 28 of the FDA's 55 novel drug approvals (51%) received orphan designation, and 17 of the 77 medicines the EMA recommended for marketing authorisation (22%) had a confirmed orphan designation. Growth in publications, approvals and the number of known rare diseases underpinned a 2025 forecast of growing demand for experienced regulatory and medical communications writers in the field.
Clients and work
Potential clients and employers include pharmaceutical and biotechnology companies, government agencies, advocacy groups, news outlets, medical education companies, healthcare insurers, public relations firms and academic research institutes. Deliverables include publications, regulatory documents, continuing medical education materials, marketing materials, meeting coverage, patient education, advocacy materials, grant applications and social media content.
Rare-disease writers synthesise evidence from clinical trials, patient-reported outcomes and, where available, registries and real-world data for healthcare professionals and patients. They also communicate with regulators, pharmaceutical representatives, payers and patient organisations. Their work includes narratives presenting small datasets and alternative study designs in regulatory applications, and patient education materials, informed assent and consent documents and lay summaries that help families make informed decisions when information is scarce. Post-approval registry studies and pro bono work in low- and middle-income countries offer further opportunities.
Skills and professional fit
Writers need the willingness to tackle a steep learning curve for each disease, a patient focus with some professional detachment in the face of devastating illness, creativity in conveying complex patient stories within regulatory constraints, and attention to both the big picture and small details.
The work calls for emotional intelligence, an understanding of patients' perspectives, expertise in emerging regulatory pathways specific to rare diseases and use of new information technology to communicate complex data. Text needs to be accessible to children, people with cognitive difficulties and people who may be neurodivergent, with ethics and inclusivity in mind and scientific accuracy balanced with clarity. Some rare-disease writing specialists suggest that patient-first priorities may receive more emphasis in rare-disease writing than in any other medical-writing discipline.
In one experienced regulatory writing leader's experience, rare-disease writers are particularly inquisitive and need excellent communication skills. Medical leads may come from academia with limited familiarity with regulatory documents, and writers should build a pleasant, efficient rapport with teams while maintaining calm professionalism and respect. A clinician specialising in inborn errors of metabolism finds that the most effective writers have encountered the rare-disease community and understand its issues.
Empathy includes communicating ordinary experiences rather than only extraordinary advocacy stories, because even positive experiences involve significant challenges. Limited evidence makes patients' perspectives and input especially important. Patients and families usually know a great deal about their condition and its effects on family and community life; a science background helps, but writers engaging with them should be humble, listen and understand their frustrations and challenges.
Personal rewards
Rare-disease work can deepen professional knowledge while helping underserved patients.
One writer's first rare-disease project, around 2015, was a marketing authorisation for a gene therapy for a rare form of congenital blindness, involving 12 visually impaired children, some as young as 3. Writing individual patient narratives from audiovisual testimonials ended her emotional detachment, and at least 15 years of follow-up made the children hard to forget. She described it as her most emotionally rewarding project and later moved to a rare-disease company. Another regulatory writer found purpose and motivation in patient testimonials about lives transformed by new therapies, seeing the work as helping bring hope alongside producing regulatory content.
A writer who led departments in the field found meeting patients and families and hearing about their difficult journeys to diagnosis rewarding, as well as knowing that key regulatory documents could help clear an approval pathway for drugs that might improve patients' and families' quality of life. Although rare diseases were the most fulfilling part of her career, she regarded partnership with other writers, combining their talents into strong teams, as its most important aspect.
Entry routes and voluntary contributions
Volunteering to write for rare-disease advocacy groups can help early-career writers build a portfolio. Learning resources recommended in 2020 included the National Organization for Rare Disorders, the National Institutes of Health and its Office of Rare Diseases Research within the National Center for Advancing Translational Sciences, the FDA, the EMA and the European Union Committee of Experts on Rare Diseases. EvaluatePharma's 2019 orphan drug report described prescription-sales trends and listed companies that could be potential clients.
One clinician describes rare-disease writing as work people either dislike or embrace until it becomes part of everyday life. Suggested entry routes are reading and engaging with public social media posts on rare-disease initiatives, taking on a project when one arises, or attending rare-disease conference sessions and talking with attendees; the community is supportive and understands that newcomers start without knowledge. His first encounter with a medical writer followed a public awareness talk, when unsolicited constructive feedback on visual presentation and infographics taught him skills he later used in patient-friendly communications.
By 2025, the clinician worked for an English non-profit educating clinicians on rare-disease management in more than 50 countries and urged writers and their organisations to support low- and middle-income countries, where rare diseases and medical writing were undervalued and forgotten. The Africa Roadmap project brought academia, patient organisations, laboratories and charitable programmes together to build a diagnostic network in Sub-Saharan Africa; with no writing budget, writers advised on strategy pro bono, and by 2025 the network connected 10 countries. In that setting, writing was still perceived as a luxury add-on, and culturally appropriate guidelines and patient-friendly communications were expected to become more important as the field developed.
Writers' connections can open opportunities: one writer with more than 20 years' experience met a charity working on remote sample collection at a conference and challenged it to consider low- and middle-income countries. The introduction led to further contacts and a project planned for completion in early 2025. The clinician's appeal for social responsibility asks writers and their organisations to consider contributing to the United Nations resolution addressing the challenges of people living with rare diseases and their families.