Rare diseases in children: a medical and societal challenge
Rare diseases affect one in twenty people in Belgium, with children being the most impacted. Nearly 75% of diagnosed patients are children, often facing prolonged diagnostic delays and difficulties in accessing appropriate care.
A broad spectrum of conditions
Rare diseases encompass a wide variety of conditions, including neuromuscular, neurological, hematological, ophthalmological, dermatological, hepatic, and immune disorders. Two-thirds of these conditions are severe and disabling, significantly affecting patients' daily lives.
"The first form of care is the creation of a space where the voices of patients can be heard."
A predominantly genetic origin
In 80% of cases, rare diseases have a genetic cause, underscoring the crucial role of research in improving diagnosis and developing tailored treatments. However, progress in this field remains too slow for many children who endure prolonged diagnostic uncertainty.
A difficult journey
Obtaining an accurate diagnosis for a rare disease takes an average of five years—an agonizing wait for children and their families, who often encounter multiple systemic barriers. Several factors contribute to this diagnostic odyssey:
- Age: while rare diseases predominantly manifest in childhood, pediatric medicine remains underfunded, and the transition to adult care can be a critical and disorienting stage.
- Gender: young girls frequently experience the invisibilization of their symptoms, which are often misattributed to psychosomatic disorders.
- Social and ethnic background: children from disadvantaged backgrounds or minority cultures face additional administrative and linguistic hurdles, further complicating early diagnosis and access to care.
Huderf and Erasme Hospital: specialized centers for rare diseases
As part of the hôpital universitaire de Bruxelles (H.U.B), Huderf and hôpital Erasme provide specialized and coordinated care for rare diseases. With dedicated multidisciplinary teams, these hospitals ensure optimal follow-up and a personalized approach for each patient.
These specialized coordination centers are known as " Rare Diseases Function." As reference hubs, they are responsible for structuring patient care in close collaboration with medical experts, researchers, and healthcare professionals. Their mission is to ensure swift access to diagnosis, tailored support for families, and the continuous improvement of treatment protocols through the latest scientific advancements.
Information and guidance
Given the complexity of care pathways, guiding patients and their families is a crucial priority. The Rare Diseases Function at H.U.B provides a dedicated contact form to help families connect with the appropriate specialists.
Further information
We invite you to explore the resources we have made available to deepen your understanding of rare diseases and their management:
- Expert insight: a white paper written by a specialist, offering an in-depth look at the latest advancements in diagnosis and treatment. (
- Webinar: an online seminar hosted by our experts, discussing challenges and solutions in the field of rare diseases.
- [Rare diseases world day 2025 | hôpital Erasme]
- Live Q&A: a virtual conference with our medical teams, providing real-time discussions on the latest developments and answering your questions. (Join the session? Link TBD)
- Presentation of the Rare Diseases Function at H.U.B:
