By Lindsay Rosen, Vice President Strategy, Digital Solutions, Medlive
One statement kept surfacing at the 2026 NORD® Rare Disease Scientific Symposium: The science has sprinted ahead, innovation is everywhere, and yet patients are still waiting.
I’ve spent over two decades in rare disease, working across patient advocacy, commercial development, global marketing, medical affairs, and clinical trials, including in many genetic pediatric conditions. Twenty years ago, the conversation was about whether science would ever catch up to patient need. Today, that question has been answered. Gene therapy, CRISPR-based gene editing, and disease-modifying medicines are no longer a distant dream. They are reaching patients, redefining treatment landscapes, and offering the potential to address root causes rather than simply manage symptoms.
So why does the average time to a correct diagnosis still sit at 4.8 years? (Source.)
The bottleneck was never the molecule alone. Connecting a patient to the right treatment, and overcoming the access, education, and systemic hurdles in between, remains the central challenge. Closing that gap requires three things.
1. Rare disease requires a rare approach: the entire care system needs better tools for recognition.
The physicians, nurses, genetic counselors, and care coordinators on the front lines are operating in a system that was not built to support rare disease recognition and treatment. Visit times are short. Specialist access is limited. Diagnostic tools are unevenly distributed. And a primary care physician may go an entire career seeing only one or two presentations of a given rare condition. The gap is not in effort or intention. It is in infrastructure and education.
That is why the distinction between awareness and recognition matters so much. Awareness tells a care team that a condition exists. Recognition gives them the clinical pattern to act on: what to look for, when to suspect it, and how to move quickly toward diagnosis. Building that capacity across the full care team, not just the rare disease specialists, is where the greatest opportunity lies. It accelerates diagnosis, enables earlier intervention, and ultimately improves outcomes for patients who have already waited far too long.
NORD‘s 2026 CME Challenge’s and the recent Lancet Global Health’s call to empower primary care practitioners is a step in the right direction. What they signal to industry is a meaningful shift: medical affairs and patient education are the same strategy aimed at different audiences, one building the clinical recognition the care team needs to diagnose, the other building the health literacy patients need to choose. The earlier the care system recognizes the disease, the sooner the patient has a real choice and can benefit from the innovation.
Action: Before building the next education program, define the clinical decision moment. What does the care team need to recognize, in the room, to think zebra and move toward a diagnosis? Build backward from that answer.
Left to Right: Myself and Medlive colleagues David Murphy (Executive Vice President, Medlive) and Kathryn Pucci (Senior Vice President, Medlive) attending the 2026 NORD® Rare Disease Scientific Symposium.
2. Patient voice must be our guiding principle.
Patient voice is our north star. It is the guiding principle that should orient every decision in rare disease: protocol design, endpoint selection, educational content, platform choices, and the language we use.
When patient perspective leads, education becomes genuinely powerful. It gives patients, caregivers, and clinicians the accurate, balanced understanding they need to navigate a diagnosis, a trial decision, or a new therapy. That foundation matters deeply in a world where conflicting information floods in within moments.
In 2026, advocates are finally a routine part of clinical trial design. That has to be the floor, not the ceiling. When we listen and build with patients, caregivers, and the young adults now aging into their own care, we stop talking at our audience and start creating experiences for them. That is when trust compounds, and true engagement becomes empowerment.
Action: Bring the patient voice into the room before the agenda is set, not after. If patient voice only shows up to approve work that is already built, it is a testimonial, not a strategy.
3. Now that patients have choices, credible knowledge is what guides them to the right one.
For the first time in rare disease history, many patients and caregivers are being asked to choose: between two gene therapies, between a cell therapy and conservative management, between a standard-of-care trial and an adaptive one. That is remarkable progress. It also creates new challenges and a tremendous need for credible education.
What matters is education that meets patients where they are: at the moment of a diagnosis, in the middle of a treatment decision, or when they are trying to understand what a clinical trial actually means for their family. That kind of education is specific, actionable, and grounded in lived experience. It answers the questions patients are actually asking, not the ones industry assumes they are asking. And it feels trustworthy, not like a brochure, but like a conversation.
Left to Right: David Murphy (Executive Vice President, Medlive), Kelly Esperias (Chief Strategy and Operations Officer, NORD), Pamela Gavin (Chief Executive Officer, NORD), and myself at the 2026 NORD® Rare Disease Scientific Symposium.
Credibility in rare disease comes from the sources the community already trusts: their advocacy organization, their clinician, the peer who has walked the same path. Volume of content alone does not earn that trust. Relationships do, and relationships take time to build.
That is what twenty years of this work have taught me. The advocacy partnerships that lasted, across many conditions, shared two things beyond credibility: a shared vision and purpose, and a timeline built around it. Partnership cannot be in name only. To create the kind of infrastructure a community relies on, you have to build trust, continuity, and shared context over time. Rare disease cannot be solved by any one of us alone, and programs built on an industry-only perspective will lose to those built together, by patients, academics, and advocates in genuine collaboration with industry.
Action: Before launching the next program, anchor it to a decision the patient is actually facing, which therapy, which trial, which path, and build the education backward from that choice. Define success with your advocacy partners up front: not how much content you produce, but whether it helps a patient and family make the decision in front of them with confidence.
The bottom line
The science has sprinted ahead. Recognition, credible knowledge, and the patient voice have to catch up with it. Rare disease does not yield to siloed effort or fragmented information. It yields when the whole care team can recognize the pattern, when patients help shape the work from the start, and when the knowledge guiding each decision comes from the sources patients already trust.
At the Symposium, a line I kept underlining in my notebook was simple: give patients more time. More time with the right diagnosis. More time with a therapy that works for them. More time to choose, to understand, to participate, to live.
That is the work. Because nobody spots a zebra alone.
