Every year on 28 February, World Rare Disease Day is celebrated, an occasion created to shine a light on more than 6,000 conditions that, taken individually, affect few people but which, together, concern over 300 million people who every day navigate their journey of diagnosis, care, and treatment, and fight for ever greater knowledge and research into their conditions.

In Italy, it is estimated that around 2 million people live with a rare disease. Behind these numbers are lives that suddenly change direction, parents who learn a new vocabulary made up of genetic diagnoses, specialist centres, enforceable rights and complex care needs.

Among these stories is that of Noah.

Noah and Rett Syndrome

From birth, his parents soon begin to sense that something is not progressing as they expected. The first months are a succession of observations, comparisons, appointments. Then comes the diagnosis: Rett syndrome, a rare neurodevelopmental disorder that predominantly affects girls and manifests itself after an apparently normal initial phase with a regression of acquired skills, significant motor difficulties, language impairment and complex care needs.

Receiving a name for what is happening brings no immediate relief. The diagnosis is a watershed. Before, there was an imagined future, built on milestones, achievements, normality taken for granted. After, everything needs to be redefined: work, time, family organisation, expectations. Many parents describe that moment as an emotional tsunami. Disbelief and fear alternate with a sense of bewilderment and an urgent need to understand. People feel alone, because the rarity of the condition makes it hard to find anyone who truly knows that specific reality.

Rett syndrome requires specific clinical expertise, continuous social and healthcare support, and a space where pain, anger and exhaustion can be acknowledged without judgement. This is where the support of an organisation like Vidas becomes decisive.

What a paediatric palliative care pathway means

In Noah's journey, the encounter with Vidas marks an important turning point. Paediatric palliative care means a holistic approach to complexity. It means bringing a team to the family's home capable of integrating medical, nursing, rehabilitative and psychological expertise. It means building a personalised care plan together with parents; offering respite stays in a hospice; creating continuity between hospital and home. Above all, it means giving parents back the possibility of being not just caregivers, but also a mother and a father.

Over time, alongside clinical management, a steady emotional support takes shape. Having a stable point of reference makes it possible to share doubts, fears and difficult decisions. It allows the most critical phases to be navigated without feeling abandoned. In a rare condition, where information is often fragmented and pathways are not straightforward, the presence of a competent and human network radically changes the everyday experience.

World Rare Disease Day also serves this purpose: to remind us that rarity must not translate into invisibility. Telling Noah's story means giving voice to the many families living through the same sudden passage between the "before" and "after" of a diagnosis. Because every rare disease is unique. But the need to be accompanied is not.