How rare are Rare Diseases?

While the term “rare” might suggest only a few, the reality is quite the opposite. In Luxembourg alone, around 30,000 individuals live with a rare disease, and globally, these conditions affect over 300 million people. This means that, collectively, rare diseases are far from rare!

So, why are they labelled as ‘Rare’?

That is because there are between 6,000 and 8,000 distinct rare diseases and each specific rare disease affects a small number of individuals. In the European Union, a rare disease is defined as one disease that affects no more than 1 in 2,000 people, but this definition varies and it is not consensual worldwide.

What causes these diseases?

The origin of rare diseases are not yet well understood, but research indicates that over 80% of them have a genetic origin. Many arise from mutations—alterations in our DNA that disrupt the vital instructions necessary for our bodies to function correctly. This can lead to a range of health challenges that vary widely in severity and manifestation.

When are rare diseases typically identified?

Rare diseases are typically identified very early in age. That’s right, approximately 70% of the rare diseases start in childhood, and sadly, 1 in 3 children with a rare disease do not live to see their 5th birthday.

However, rare diseases are often diagnosed much later than expected. It can take a long time from when symptoms are first noticed to when doctors figure out what is wrong. Sadly, many children live without a confirmed diagnosis for a long time, going through what is called a “Diagnostic Odyssey.”

In Europe, on average it takes almost five years to get a confirmed diagnosis. This prolonged diagnostic odyssey can severely affect the physical health and emotional well-being of both children and their families.

So, what initiatives are underway in Luxembourg to address this challenge?

In response to this urgent public health issue, the Luxembourg Institute of Health (LIH) in collaboration with the University of Luxembourg (UL) and University of Porto (UP) and with the support of ALAN, the Center Hospitalier de Luxembourg (CHL), and the Laboratoire National De Santé (LNS) has launched a research study entitled “Developing an Integrated Diagnostic Care Pathway model in Luxembourg for paediatric patients with a suspected diagnosis of a rare disease.” The goal of this study is to develop a streamlined diagnostic pathway that guides patients from their first symptoms to a confirmed diagnosis, ensuring they receive timely, coordinated and appropriate care.

What is a diagnostic care pathway model?

A diagnostic pathway model is like a detailed flight plan that the pilot follow in order to ensure you will arrive safely to the destination. Just like a flight map provides clear routes, lists all stops and includes instructions for different situations (e.g. turbulence), a diagnostic pathway aims to outline the steps of the diagnostic journey necessary to be followed in order to ensure patients receive the right care at the right time.

We aim to guide the patients from their first symptoms to a confirmed diagnosis, ensuring they receive timely, coordinated and appropriate care.