The time variable is fundamental in medicine. Also and above all if it is a question of reaching a diagnosis of a rare diseaseby definition more difficult to discover. But to improve the situation there is a need for numbers, figures, knowledge of the different Italian realities. In short, the disease must pass “from rare to recognized”.
With this logic Women in rare He launches the national investigation that explores causes and impact of the diagnostic delay on the lives of people with rare disease. It aims to analyze several factors that can affect the diagnostic delay – such as education, work activity, geographical area and gender differences. Particular attention will be paid to the latter theme: the goal is to understand whether – with the same conditions – the fact of being a woman It involves a further disadvantage in obtaining a diagnosis.
Each person can participate, simply by clicking on the website of Uniteto complete the questionnaire questions and help improve the situation. Now in its second edition, Women in rare is the project conceived and promoted by Alexion, Astrazeneca Rare Disease, in partnerships with we united – Italian Federation of Rare Diseases APS ETS, and with the collaboration of the ONDA ETS, Censis and Altems Foundation.
A tailor -made questionnaire
For those suffering from a rare disease, diagnosis can be a real challenge. It is estimated that on average, in Europe, diagnostic delay is about 5 years. The causes are many – of a cultural, social, health and territorial – but the result does not change: the time that passes from the onset of the disease at the beginning of therapies has important consequences on the clinical management of the disease, access to therapies, social and working inclusion, the quality of life of the patient and caregiver. A weight that weighs above all about womenboth as patients and as a caregiver, since The incidence of rare diseases is greater in the female population And that about 90% of the caregivers of people with rare diseases are woman.
The project aims to detect times and obstacles in the path of diagnosis of people with rare disease, estimate the economic and social costs of the diagnostic delay, bring out and analyze gender inequalities on this issue. The survey is aimed at all people with a rare disease and those who take care of it, women and men, of all ages and origins. The questionnaire is available on the we united website and will be active until August 8, 2025, and then from September 15 to October 17, 2025.
“Diagnostic delay is a challenge for all rare patients: it can be a long, complex path, full of attempts, expectations and costs, personal, professional, emotional. With this investigation we want to focus attention on the stories of patients and caregivers to understand, in addition to the duration of the path, what obstacles meet and what consequences the delay in daily life deepens the path of the rarity in the social and healthy area is a fundamental step to bring to the light. complexity and consequences that these diseases involve.
Annalisa Scopinaro, president of United explains.
What is expected
According to Ketty Vaccaro, Biomedical Research Area Manager and Health Censis Foundation, who has developed the investigation and will develop the final report,
“The analysis of the collected data will allow to evaluate the causes and impact of the diagnostic delay on the health condition, on the educational and working path, on the quality of life, on the assistance load of both patients and caregivers, with particular attention to any gender differences. It will be important to estimate the economic and social costs linked to the failure to recognize timely recognition of diseases, both for families and for the country system, and to map the territorial differences in terms of access to access to access services, especially diagnostics “.
The project will also collect information on the costs incurred by people with rare disease and their families: direct and indirect expenses related to diagnostic delay and their impact on the country system will be assessed. Based on these data, thanks to the collaboration with Altems, a drug-economy study will be produced.
