On the right track: moving forward together in care for rare diseases

Rare diseases: small in numbers, big in impact

A disease is considered rare if it affects fewer than 1 in 2,000 people. There are an estimated 8,000 different rare diseases, most of which are genetic or congenital. Although each disease is rare on its own, around 1.2 million people in the Netherlands live with the consequences. That is an average of 250 patients per disease.

Many of these diseases are chronic, severely disabling, or even life-threatening and often involve a systemic autoimmune disease. In these patients, the immune system, which normally fights bacteria, viruses, and fungi, mistakenly attacks the body’s own tissues. Multiple organs and systems can be affected simultaneously.

Most patients are diagnosed at an early age, often before the age of 40. This means they are dependent on specialist care for most of their lives. Unfortunately, for many of these conditions, no curative treatment is available.

The care train: why diagnosis can take so long

Because rare diseases are uncommon, they are often difficult to recognize. Many patients live for years with vague symptoms without a clear diagnosis. “It’s like searching for a needle in a haystack,” says professor Onno Teng. “It often takes a long time before someone reaches the right specialist, and it can take years to get the correct diagnosis.”

Teng compares the healthcare system to a crowded train during rush hour. “Patients are waiting on the platform for the care train. Those with a common condition can board easily and quickly reach the right destination. But for people with a rare disease, it is more difficult. They often need complex care from multiple specialists. That makes it harder to ‘get on board’ and receive optimal care.”

And pressure on the healthcare system is increasing, making the platform even more crowded. “The fuller the platform, the harder it becomes for these rare patients to get on board to receive care. This often remains invisible, and patients tell us all the time how they struggle to access the right and optimal care. Not because healthcare professionals aren’t trying, but because the system is mainly designed for the main routes: the well-known pathways for common diseases. For rare diseases, direct connections are often missing. Patients must transfer, detour, or wait for a train. The right destination exists, but it is hard to reach.”

Good care starts with accessible expertise

“To change this, we need to organize the network more intelligently. That is why collaboration in expert networks is so important. It starts with accessible expertise: healthcare professionals must be able to quickly consult colleagues with experience in rare diseases,” Teng says.

There are around 350 expertise centers in the Netherlands. Most of them are linked to university hospitals. These centers bring together teams of specialists to provide tailored care for rare diseases. Many are also part of a European Reference Network (ERN), such as ERN RITA, to share knowledge and experience internationally. Leiden University Medical Center (LUMC) has 32 expertise centers treating 230 different rare diseases and participates in 15 ERNs. This enables knowledge sharing both nationally and internationally, contributing to faster recognition and better care, also for very rare conditions.
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