Rare diseases: women wait two years longer from the first symptoms to diagnosis
Diagnostic delays, gender inequalities, hidden costs: a White Paper quantifies, for the first time, the inequity surrounding rare diseases in Italia
Key points
There is also a gender issue to be addressed in the context of rare diseases. Women with rare diseases wait on average two years longer than men to receive a diagnosis; in the south, one in two patients is forced to travel outside their region to receive a diagnosis; and 37.2 per cent of female carers give up work to look after a loved one. These figures come from the White Paper ‘From Rare to Recognised: Causes and impact of diagnostic delay on the lives of people with rare diseases and their carers’, a report that reveals the severe impact of rare diseases on women’s work, family life and economic opportunities.
The survey, presented to the Senate on the initiative of Senator Elena Murelli, was conducted by Censis and Altems, a spin-off of the Catholic University of the Sacred Heart in Rome, for Women in Rare – the think tank conceived and promoted by Alexion, AstraZeneca Rare Disease, in partnership with Uniamo, the Italian Federation for Rare Diseases, and in collaboration with the Onda Foundation and a multi-specialist and institutional scientific committee.
The impact of a diagnosis on people’s lives
““This survey represents a unique contribution to research as it documents the time elapsed from the first symptoms to diagnosis and focuses on the profound social and economic repercussions that rare diseases have on the lives of people and their carers,” says Giorgio De Rita, Secretary-General of the Censis Foundation. The consequences of rare diseases affect a wide range of areas of life, from family relationships to work, leisure activities and socialising with others. In particular, the study highlights a number of critical issues, starting with the difficulties in interpreting the symptoms of these conditions, which result in longer timescales before a final diagnosis is reached. The findings of this research are a formidable tool to support the necessary collective effort to improve the healthcare and social infrastructure supporting people with rare diseases and their carers.”
The picture that emerges is that of a fragmented diagnostic pathway characterised by two critical phases. The first – from the onset of symptoms to the first medical consultation – takes an average of 2.5 years, but a gender difference is apparent: women wait on average almost 3 years, whilst men wait 1.4 years. This is followed by a second stage – from the first consultation to the definitive diagnosis – which takes an average of 3 years.
Inequalities are widening across the region
Diagnostic delays are not confined to the healthcare sector; on the contrary, they reshape entire life trajectories, erasing or diverting them, leading to career interruptions or even the complete abandonment of the search for employment. And for those who were in employment at the time of diagnosis, the impact has often been dramatic: 46.6 per cent were in fact forced to take early retirement.
