Progress and Persistent Hurdles in Rare Disease Care

Significant strides are being made in the care of patients with rare diseases, particularly within rheumatology in Italy, but challenges surrounding diagnosis and access to treatment continue to exist. This was a key theme highlighted during World Rare Disease Day, promoted in Italy by UNIAMO Federazione Italiana Malattie Rare.

National Plan and Regional Networks Offer Hope

The Italian Society of Rheumatology (SIR) reports a mixed picture, noting positive developments such as a dedicated National Plan and the establishment of regional networks modeled on a ‘hub & spoke’ system. These networks are integrated into important European collaborations, ensuring that a majority of patients can access appropriate care.

Diagnostic Delays and Treatment Access Remain Key Concerns

Despite progress, Extremely little known diseases in non-specialist contexts, which translates into diagnostic delays and late management, according to the source content. The complexity of obtaining orphan drugs and utilizing off-label treatments further complicates access to necessary therapies.

The Power of Shared Experiences

“No rare diseases they are, by definition, infrequent,” explains Marta Mosca, full professor of Rheumatology at the University of Pisa and coordinator of the European network for rare rheumatological diseases ERN ReCONNET. “This can translate into diagnostic delays and late access to treatment. Because, as we always say, ‘if you don’t know, you don’t recognise’. Today, however, there is a positive sign: we are talking more about rare diseases, also thanks to patients who share their experience on social media, helping to raise awareness and reduce isolation.” Marta Mosca, University of Pisa

About the National Plan

A National Plan dedicated to rare diseases is in place, offering a framework for improved care and research.

Regional Networks: A Hub & Spoke Model

Regional networks, organized using a ‘hub & spoke’ model, connect specialized centers with broader healthcare providers, improving access to expertise.

UNIAMO’s Role in Advocacy

UNIAMO Federazione Italiana Malattie Rare, representing the Italian community of people with rare diseases, has been instrumental in raising awareness and advocating for patient rights for 25 years, with over 200 affiliated associations.

#UNIAMOleforze Campaign

The #UNIAMOleforze campaign featured over 50 initiatives throughout February 2025, culminating on Rare Disease Day, to spotlight the needs of the more than 2 million people living with rare diseases in Italy.