Years of appointments before a correct diagnosis finally arrives
Across Sweden, more than half a million people carry diagnoses so uncommon that most physicians will encounter them only once, if ever — and for decades, the systems meant to support these patients have spoken in incompatible tongues. RaraSwed, a new national registry now rolling out through Swedish hospitals, represents an attempt to impose coherence on this fragmentation: standardizing how rare diseases are recorded, tracked, and understood across a country where geography and institutional habit have long determined the quality of care one receives. It is, at its core, a wager that visibility — the act of being consistently seen by a system — is itself a form of medicine.
- Over 500,000 Swedes with rare diseases have long endured diagnostic odysseys measured in years, not months, as incompatible hospital systems and inconsistent coding leave their conditions invisible to the very care networks meant to help them.
- RaraSwed enters a landscape of structural disorder — regional IT systems that cannot speak to each other, conflicting interpretations of data protection law, and genetic testing capacities so uneven that some areas simply cannot identify rare diseases at all.
- Cancer epidemiologist Marie Stenmark Askmalm, who led the registry's development, argues that without standardized data, physicians are left building knowledge from scattered anecdotes rather than evidence — a foundation too fragile for the complexity rare diseases demand.
- Early rollout has made the fractures visible: the Centre for Rare Diseases now publishes real-time regional reporting data, effectively mapping where the system functions and where it quietly fails its most vulnerable patients.
- The registry's promise — equitable, coordinated, evidence-based care for rare disease patients — now rests on whether Sweden's regions can subordinate their differences to a shared language of diagnosis and treatment.
Across Sweden, more than half a million people live with diagnoses so uncommon that most doctors will never encounter them twice. Science has catalogued roughly seven thousand distinct rare diseases, the majority rooted in genetic variation, yet the expertise to recognize and treat them remains scattered — concentrated in a handful of specialists, recorded in systems that cannot communicate with one another.
The consequences are not abstract. A patient may spend years moving between hospitals, each logging their symptoms differently, none building on what came before. Diagnoses are delayed. Care fractures along institutional lines. The problem deepens when a rare disease touches multiple body systems at once, demanding coordination between specialties that rarely collaborate.
Marie Stenmark Askmalm, a cancer epidemiologist at Lund University and senior consultant at Skåne University Hospital, has spent her career watching patients navigate this maze. In 2023, she was asked to lead the development of a national solution. The result is RaraSwed — a registry now rolling out across Swedish hospitals that collects standardized molecular genetic diagnoses, clinical symptoms, disease progression, and treatment data in a single, searchable format. The goal is to replace guesswork with evidence, to build national clinical guidelines from real data rather than isolated case reports, and to make regional disparities visible enough to address.
But implementation has exposed just how deep the fragmentation runs. Sanna Mansoob, a pediatric resident and doctoral student at Lund University involved in the registry's development, helped document the obstacles: medical records vary wildly between regions, IT infrastructure is inconsistent, and data-sharing efforts collide with conflicting interpretations of privacy law. Early reporting reveals significant regional variation — some of it reflecting genuine differences in disease prevalence, some of it revealing that certain areas simply lack the genetic testing capacity to identify rare diseases at all.
The Centre for Rare Diseases now publishes real-time regional data, creating what amounts to a public map of where the system works and where it breaks down. For the half million Swedes living with rare diseases, RaraSwed represents something elemental: the possibility of being seen consistently, of having one's condition recorded in a way that follows them through the system rather than disappearing at each institutional boundary. Whether that promise holds depends on whether Sweden's regions can commit, at last, to speaking the same language.
Across Sweden, more than half a million people carry diagnoses that most doctors will never see twice in their careers. Globally, science has identified roughly seven thousand distinct rare diseases, the vast majority rooted in genetic variation. Yet the expertise to recognize them remains scattered, concentrated in a handful of specialists, while the systems meant to track them speak different languages entirely.
This fragmentation has real consequences. A patient with a rare condition might move through years of appointments, each in a different hospital system, each recording their symptoms in incompatible ways. Diagnoses get delayed. Care becomes disjointed. Treatment suffers. The problem is especially acute when a rare disease affects multiple body systems at once, or when it arrives alongside intellectual disability—conditions that demand coordination across specialties that rarely talk to each other.
Marie Stenmark Askmalm, a cancer epidemiologist at Lund University and senior oncology consultant at Skåne University Hospital, has spent her career watching patients navigate this maze. She describes the typical journey: years of appointments, false starts, mounting frustration, before a correct diagnosis finally arrives. The health care system, she notes, was simply not built to handle such complexity. It was designed for common conditions, for single specialists working in isolation. Rare diseases demand something different—a way to pull together data from across regions, to see patterns, to build knowledge from what would otherwise remain scattered anecdotes.
In 2023, Stenmark Askmalm was asked to lead the development of a national rare disease registry. The result is RaraSwed, now rolling out across Swedish hospitals and clinics. The registry collects standardized information: molecular genetic diagnoses, diagnostic codes, clinical symptoms, genetic findings, disease progression, treatment approaches. All of it structured the same way, all of it searchable, all of it available for research and continuous improvement.
The appeal is straightforward. Quality registries, Stenmark Askmalm explains, replace guesswork with evidence. They allow physicians to develop national clinical guidelines grounded in actual data rather than isolated case reports. They create the foundation for knowledge-driven health care—the Swedish system's stated aim. And they expose regional disparities, making it possible to address them.
But implementation has revealed just how fragmented the landscape truly is. Sanna Mansoob, a pediatric resident and doctoral student at Lund University, helped publish a study examining the registry's development and the challenges of rolling it out nationwide. The obstacles are structural: medical records vary wildly between regions. IT infrastructure differs. When regions need to share patient data, they face not just technical barriers but conflicting interpretations of data protection law. Early reporting shows significant variation between regions—some may reflect genuine differences in disease prevalence, others suggest that certain areas lack the genetic testing capacity to identify rare diseases in the first place.
The Centre for Rare Diseases now publishes real-time data on regional reporting, making these gaps visible. It is, in effect, a map of where the system works and where it breaks down. Mansoob frames the registry as part of a larger global shift toward digital health and data-driven medicine. A well-designed registry, she argues, transforms fragmented information into actionable knowledge. It benefits not just Swedish patients but the international medical community. It creates the conditions for more efficient, more equitable care.
For the half million Swedes living with rare diseases, the registry represents something simpler: a chance to be seen, to have their condition recorded consistently, to receive care coordinated across the system rather than fractured by it. Whether RaraSwed can deliver on that promise depends on whether the regions can overcome their differences and commit to speaking the same language.
Notable Quotes
Rare diseases are often characterized by complex clinical presentations affecting multiple systems, sometimes in combination with intellectual impairment, which can present barriers to patient advocacy. Many patients endure a long diagnostic journey before receiving a correct diagnosis and appropriate care.— Marie Stenmark Askmalm, cancer epidemiologist at Lund University
A well-designed registry can transform fragmented data into actionable knowledge that benefits both the Swedish and international medical communities. This enables a more efficient, equitable health care system and ultimately improves care coordination for people living with rare diseases.— Sanna Mansoob, pediatric resident and doctoral student at Lund University
The Hearth Conversation Another angle on the story
Why does it matter that Sweden built this registry now, rather than five years ago or ten?
Because the technology finally exists to do it well. You need standardized data formats, interoperable systems, the ability to extract and compare information across regions. But also because the problem had become undeniable—half a million people waiting years for diagnosis, getting fragmented care. At some point the human cost becomes impossible to ignore.
The article mentions that some regions might lack genetic testing capacity. What does that actually mean for a patient?
It means if you live in the wrong region, you might never get tested for the genetic cause of your condition. You could have a diagnosis available to you, but the infrastructure to find it doesn't exist where you are. The registry makes that visible, which is the first step to fixing it.
Is this just a Swedish problem, or is this happening everywhere?
Everywhere. Sweden is actually ahead of most countries in trying to solve it systematically. But the fragmentation—different coding systems, different specialties not talking to each other, patients lost in the gaps—that's global. What Sweden is doing could become a model.
What happens to the data once it's collected? Who uses it?
Researchers use it to understand disease patterns. Clinicians use it to develop evidence-based guidelines. Health administrators use it to see where resources are needed. And ideally, individual patients benefit because their doctors have better information and can coordinate care more effectively.
The article mentions "variations in reporting practices." Is that a polite way of saying some regions aren't trying hard enough?
Not necessarily. Some variation might reflect real differences in disease prevalence. But some probably reflects capacity gaps—one region has genetic testing, another doesn't. Some might reflect how different hospitals code the same condition. The registry doesn't judge; it just makes the variation visible so it can be addressed.
What's the biggest obstacle to making this work?
Getting regions to agree on how to do things the same way. Every hospital system has its own IT infrastructure, its own workflows, its own culture. Asking them to standardize is asking them to change. That's hard, even when everyone agrees it's necessary.