Every rare disease diagnosis begins with a journey few can imagine – years of misdiagnoses, fragmented care, and limited therapeutic options. For many families, hope can feel like a moving target, and every delay comes at a cost, both financially and emotionally. Families I’ve met have lived this reality, and their stories underscore one truth: progress and meaningful innovation start with listening.
Decades at the intersection of science and patient need have taught me breakthroughs only matter when they change lives. Today, science and biotechnology are opening new doors. Advances in genomics, AI-driven diagnostics, and precision therapies are rewriting what’s possible. In 2023, more than half of the US Food and Drug Administration (FDA) approved novel drugs targeted rare diseases, signaling growing recognition of the 350 million people worldwide living with one of 7,000 rare conditions.
But momentum alone isn’t enough. Progress matters only when it reaches the right person at the right time, and that takes collaboration across biotech, healthcare systems, regulators, and patient communities. It also takes listening – not just to data, but to the voices of those living with a rare disease every day. Innovation without empathy is just science. At its best, science changes lives.
Listening is not optional
Patients and caregivers hold deep, practical knowledge of their conditions; knowledge no algorithm can replicate. Integrating their insights into trial design, endpoints and real-world evidence is the only way to deliver therapies that truly improve lives.
Consider the FALCON study in primary mitochondrial disease, now part of Pharming’s development pipeline. Instead of imposing traditional endpoints, the study team co-created them with the patient community. Together, they defined what mattered most: fatigue and functional strength, then developed specific measures to capture those outcomes.
This is the model we need: solving challenges with patients, not for them.
Transforming diagnosis: Treat it like an emergency
Across Europe, the average diagnostic delay for rare disease patients is nearly five years – and in the US it can stretch to nine. That is unacceptable. Patients bounce from specialist to specialist, often feeling unheard, disbelieved or dismissed. Instead, diagnosis must be treated as a clinical emergency.
Listening to symptoms, family histories, and emotional context is a clinical tool that can trigger suspicion of a rare condition and enable timely referrals. Diagnosis should carry the same weight as treatment because it replaces uncertainty with clarity, giving patients and clinicians the power to act.
Take Adia, a 15-year-old living with the rare genetic disease Activated PI3K Delta Syndrome (APDS). She endured recurrent sinus infections throughout childhood, yet genetic testing wasn't considered until her father passed away from complications related to his own symptoms, including lymphoma. Adia’s diagnosis changed everything and gave her access to the treatment she needed.
Shortening the diagnostic odyssey demands curiosity, empathy, and action: broader access to genetic testing, smarter use of AI to flag rare disease patterns, and stronger partnerships with healthcare systems to ensure patients get answers faster. Genetic testing and counseling should be routine, not a last resort. Clinicians can advocate for earlier sequencing and connect families to programs offering low- or no-cost genomic testing, such as the Help Undiagnosed Children Foundation and the Rare Genomics Institute, especially in underserved communities where disparities in care are pronounced. Centers of excellence and rare-disease registries remain critical, as do links to advocacy groups like the National Organization for Rare Disorders, EURODIS, and Global Genes which reduce isolation and empower patients to engage in treatment decisions. Finally, we must support policies that protect orphan drug incentives and expand access to testing and care.
Building a patient-driven ecosystem
Rare disease care is a challenge no single stakeholder can solve alone. Our role as biotech leaders goes beyond developing medicines; it’s about redesigning the patient journey so science and lived experience move in lockstep. That means embedding patient voices at every stage, not as a checkbox but as a design principle.
At Pharming, we’ve operationalized this approach through structured patient feedback loops and rigorous analysis of patient-reported data. These insights shape trial design, guide access strategies, and help shorten the diagnostic odyssey while aligning clinicians, payers, and policymakers. It’s a model that should become the norm across the industry.
So, what does that look like in practice?
· Engage early. Bring patients into protocol development and advisory boards from day one. Validate endpoints against what changes daily life.
· Invest in relationships. Build long-term partnerships with advocacy groups to reach underrepresented populations.
· Design for diversity. No two rare disease paths are identical. Use adaptive trial designs and segment patients by disease stage.
· Accelerate diagnosis. Pair AI-enabled tools with clinician training and expand access to genetic testing.
· Plan for access from the start. Start payer and HTA dialogues early and incorporate patient-relevant endpoints that translate into real-world value.
These are foundational steps to create an ecosystem where science fulfills its purpose: changing lives. In rare disease, that purpose must guide every decision we make.
Policy as a multiplier of patient voices
Policy alignment accelerates patient-first innovation and amplifies patient voices. Protecting orphan drug incentives is essential – they make investment in small populations viable. We also need to modernize evidence standards, so access moves at the speed of science.
In Europe, initiatives like the Draghi report on EU competitiveness and the proposed EU Biotech Act should deliver practical benefits: clearer clinical pathways, smarter use of health data, and earlier diagnosis across borders. France offers a strong example: expanding its national rare disease plan improved coordination between canters of excellence and reduced diagnostic delays.
In the US, state rare disease advisory councils and expanded newborn screening are closing gaps in testing and care. These policies enable earlier detection of metabolic disorders, giving families access to treatment before symptoms escalate.
It’s policies like these that determine outcomes. They decide whether families spend years searching for answers or receive timely diagnoses and treatments. When incentives and standards prioritize patient needs, innovation accelerates from discovery to delivery. That is the progress we should demand: science serving people, not the other way around.
A collective path forward
Rare disease innovation ought to be shaped by collaboration between clinicians, industry, patients, and policymakers. This way, people living with rare conditions are not only treated – they are heard, understood, and supported.
This is more than a clinical imperative; it is a moral one. Our responsibility as biotech leaders is clear:
Listen deeply.
Design with patients, not for them.
Act boldly on access.
This is the future I’m committed to building: where patient voices guide every decision and rare disease care becomes a model for medicine itself. When patients are at the heart, science gets sharper, access gets faster, and lives change sooner.
In doing so, we set a new benchmark for compassionate, patient-centered care. That is the standard biotech must embrace – and it starts with listening.
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