Rare diseases: the challenge of growing up – how to avoid a ‘leap into the unknown’ in care

As they transition from paediatric to adult care, over 130,000 young people with rare conditions in Italia risk suddenly finding themselves on their own. This is the paradox of medical progress: advances in early diagnosis, neonatal screening and research now enable an ever-increasing number of children to grow up and become adults. However, once paediatric care comes to an end, the comprehensive care they have received – often from birth – risks becoming fragmented.

“The main risk stems from the fact that the methods of care and approach vary greatly, so the patient is then at risk of losing some confidence and no longer adhering to their treatment,” explains Professor Angelo Ravelli, scientific director of the IRCCS Gaslini. “You find yourself in waiting rooms full of elderly patients, faced with doctors who have less time and who often have never treated rare and complex conditions that first appear in childhood. In my experience, some patients become demotivated because they encounter difficulties – whether in arranging an appointment or due to the different treatment methods and approaches – and consequently give up on seeking treatment. This is a very serious matter, because there are diseases which, if left untreated, can in some cases lead to progressive and irreversible damage.”

With these words, Ravelli highlights the urgent situation faced by thousands of patients in our country. To fill this gap, NextStep-Rare has been launched – the first national scientific consensus defining a standard for the transition of care. The project, coordinated by Helaglobe, under the scientific direction of Ravelli himself and Professor Massimiliano Raponi, Medical Director of the IRCCS Bambino Gesù, brought together 25 experts from centres of excellence, IRCCS institutions, regional networks and rare disease coordination centres, using the Real-Time Delphi methodology to draw up a framework of 25 recommendations, all of which were approved with a level of agreement ranging from 90 per cent to 100 per cent.

Raponi cites the example of congenital heart disease: ‘Children with rare cardiac conditions need to be monitored for the rest of their lives. In critical or emergency situations, doctors must already be familiar with the condition and, where necessary, know which medicines the patient is taking, their medical history and what procedures to carry out; otherwise, there is a risk of losing crucial hours.” The situation is further complicated by marked regional inequalities: 18 per cent of people with rare conditions are forced to move to another region to receive treatment, a figure that rises to 24 per cent among children. To overcome this fragmentation, NextStep-Rare sets out a clear path: the transition cannot be reduced to a mere bureaucratic formality. ‘It is not simply a matter of transferring medical records, but an organisational process that prevents the fragmentation of care and safeguards the progress made during childhood,’ Ravelli emphasises. As Raponi summarises, “the project has produced the first national and multi-sectoral consensus on organisational standards for the transition of rare diseases”, implementing the 2023–2026 National Plan for Rare Diseases and Law 175/2021. The document, produced with an unrestricted grant from Alexion, recommends planning the care pathway from adolescence onwards, providing for at least 6–12 months of joint supervision by the paediatric and adult teams.

A key element of this organisational framework is the role of the ‘case manager’. ‘This means a person responsible for managing a case – someone who coordinates a course of care or service provision and, within the healthcare sector, can monitor a person’s situation, liaise with doctors, social services and local facilities, and organise appointments.’ Integration with local services is also essential: “The management of chronic conditions and rare diseases must be based on solid teamwork between hospitals and the local community; the role of the paediatrician and the GP is fundamental in identifying care needs at an early stage and ensuring continuity of care throughout the patient’s life,” concludes Raponi. For this model to be effective, regional resolutions and dedicated resources are now needed, ensuring that the transition to adulthood never interrupts the right to healthcare.