Q&A: Families shouldn’t have to coordinate Sweden’s rare disease care

As European health systems grapple with how to deliver increasingly advanced therapies, rare disease patients in Sweden still face everyday challenges — from securing a diagnosis to accessing appropriate care. Although rights are strong on paper, families often find themselves stitching together services across a decentralized system.

Ågrenska is a national competence center in Sweden working to bridge those gaps. It supports people with rare diagnoses and their families in navigating health and social services. “But there’s a limit to what one organization can do,” says Zozan Sewger Kvist, Ågrenska’s CEO. POLITICO Studio spoke with her about where the Swedish system falls short and what must change across Europe to ensure patients are not left behind.

POLITICO Studio: From Ågrenska’s experience working with families of rare disease patients across Sweden, where does the system most often break down?

Zozan Sewger Kvist: For 25 years the families have been telling us the same thing: the system doesn’t connect.

The breakdown is most evident in health care, especially when transitioning from pediatric to adult care. But it also happens when patients are transitioning between schools, social services and medical teams. No one is looking at their care from a holistic point of view. Families become their own project managers. They are the ones booking appointments, chasing referrals, explaining the diagnosis again and again. It’s a heavy burden.

That’s largely why our organization exists. We provide families with the knowledge, networks and tools to navigate the system and understand their rights. But there’s a limit to what one organization can do. In a perfect world, these functions would already be embedded within public care.

PS: Access to rare disease care varies widely within many European countries and Sweden is no exception. In practical terms, what do those regional disparities look like?

ZSK: Swedish families have the same rights across the country, but regional priorities differ. That leads to unequal access in practice. For example, areas with university hospitals tend to have stronger specialist networks and rehabilitation services. In more rural parts of the country, especially in the north, it is harder to attract expertise, and families feel that gap directly.

In practical terms, that can mean something as basic as access to rehabilitation. In some regions, children receive coordinated physiotherapy, speech therapy and follow-up. In others, families struggle to access rehabilitation at all. And that’s a big issue because a lot of Sweden’s health care runs through rehabilitation — without it, referrals to other services and treatments can stall.

PS: Would a comprehensive national rare disease strategy meaningfully change outcomes across regions?

ZSK: The problem is compliance, not regulation. Sweden has strong rules but regions have almost full freedom to organize care, which makes consistency difficult. As it stands, without clear national coordination, it becomes much harder to monitor whether families are actually receiving the support they are entitled to.

A national rare disease strategy would not solve everything but it would set expectations such as what the minimum level of care should look like, what coordination should include and how outcomes are followed up.

A draft national strategy was developed in 2024, and there was real momentum. Patient organizations, health care experts and the government were all involved. Everyone was optimistic the framework would provide guidance and accountability. After some delays, work on the national strategy has resumed, so hopefully we will see it implemented soon.

PS: Families often describe a long and fragmented path to diagnosis. Where does that journey tend to go wrong, and what would shorten it most?

ZSK: Coordinated multidisciplinary teams would make the biggest difference — teams that can look at the whole condition, not just one symptom at a time.

The challenge is that rare diseases often affect multiple organ systems. Several specialists may be involved, but they do not always work together, and it may not be clear who is taking responsibility for the whole case. When no one holds that overview, delays multiply.

Sweden also lacks a fully integrated national health record system, so specialists may be looking at different pieces of the same case without seeing the full picture. Families often feel they need to take on a coordinating role themselves. They describe an endless search — calling clinics, repeating their story, trying to connect the dots.

PS: Sweden participates in the European Reference Networks, yet you’ve suggested they’re underused. What’s missing in how Sweden leverages that expertise?

ZSK: The ERNs are a strong, established framework for connecting specialists across borders. Swedish experts participate, but we are not using that structure to its full potential. Participation often appears project-based rather than long-term. Neighboring countries such as Norway, Denmark and Finland are more proactive in leveraging these collaborations.

I would like to see Sweden invest more in turning these networks into durable partnerships that support clinical practice — not just research initiatives.

PS: Sweden often falls behind other EU countries in terms of access to orphan medicines (drugs that treat rare diseases). What needs to change in Sweden’s approach to ensure patients aren’t left behind?

ZSK: Families are very aware of how access compares across Europe. They follow these discussions closely, and when a treatment is available in one country but not another, it is difficult for them to understand why.

In Sweden, reimbursement decisions often come down to cost-effectiveness calculations. That makes access an ethical as well as an economic question. But for a family, it is hard to accept that a few additional years of life or stability are weighed against a financial threshold.

Some families choose to cross borders for treatment. But that can be quite a complex, expensive process, depending on the kind of treatment.

I think greater transparency and clearer communication about the criteria and long-term impact — not only the immediate cost — would make difficult outcomes easier to understand.

PS: You’ve worked with families for decades. Have things materially improved — and what worries you most if reforms stall?

ZSK: Unfortunately, I cannot say that things have materially improved. When I look back at the challenges families described 15 or 20 years ago, many of them are still the same.

There have been some positive developments. Digital access means families are more informed and can connect more easily with others in similar situations. That has strengthened their voice.

But structurally, many of the underlying gaps remain. Rare disease care needs sustained political and financial follow-through. Without that, families will continue to carry burdens that the system should be managing.

Disclaimer

POLITICAL ADVERTISEMENT

• The sponsor is Alexion Pharmaceuticals
• The entity ultimately controlling the sponsor: AstraZeneca plc
• The political advertisement is linked to policy advocacy around rare disease governance, funding, and equitable access to diagnosis and treatment across Europe

More information here.