On National Women’s Health Day, a white paper arrives, the first, which addresses rare diseases from a gender perspective and their burden on the female population. Is titled “Women and rare diseases: impact on life and expectations for the future” and is presented today in a conference in the Senate, during the final event of the Women in Rare campaign. the document (downloadable from the site womeninrare.it) contains information, a survey and testimonials from patients and caregivers.
Over two million women affected
Let’s start with epidemiology: in Italy there are over a million women affected personally, and just as many who take care of someone – usually a son or daughter, with a rare pathology. “In rare diseases there is a female prevalence of 52.4% – he says Guendalina Graffigna, Full Professor of Consumer and Health Psychology at the Catholic University of the Sacred Heart of Cremona and Director of the EngageMinds HUB Research Center which oversaw the survey – If we then consider that the patient care burden is in 90% of cases absorbed by them, it is clear that these pathologies mainly impact women. Suffice it to say that 1 million 400 thousand patients are of pediatric age, and two out of five today are under 18 years of age: those who take care of them are very often mothers, who in numerous cases experience a reduction in their work, play and relational activities , in a total identification with the disease and with the care task that follows.” Very often, explains Graffigna, female figures are considered the most suitable to take care of a sick family member and suffer from pressures linked to the role of care, which leads them to give up many of the social activities they carried out before the diagnosis, including work and hobbies.
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I lost almost 4 days of work a month
The survey data confirm this great impact, including economic, of rare diseases on the female population. In fact, for 42% of women suffering from a rare disease who participated in the survey, the economic situation changed following the diagnosis of a rare disease, with a worsening in 8 out of 10 cases and a consequent psychological impact in the majority of cases : “The additional expenses they had to face were related, in 77% of cases, to medical treatments, including expenses related to travel to access therapies and checks (23%), while in 19% of cases they were related to necessity relating to the management of the home and family – he declares Giuseppe Arbia, director of Altems – Furthermore, due to the rare disease, an average of 45.46 days of work are lost per year, corresponding to 3.78 days per month. As for the caregivers, 65% of the respondents reported that the diagnosis of their child’s rare disease led to a change in the economic-financial situation: in 8 out of 10 cases it was a worsening, with consequences on a psychological level (78%). The additional expenses they had to face are attributable in 69% of cases to medical treatments, which include travel to access treatments and checks (22%), and in 28% of cases they are related to managing the home and family. For them, on average, the days of work lost are 43.67 per year, or 3.64 per month”.
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Data: a starting point for concrete actions
To date, between 7 and 8 thousand rare diseases are known, and the data collected by the survey and presented in the white paper are a fundamental starting point for taking concrete actions: “In Europe, diseases are considered rare when they affect 1 person in 2 thousand and this makes us understand how those who suffer from it can feel alone – he comments Annalisa Scopinaro, President of UNIAMO (Italian Federation of Rare Diseases) – The UN, with its resolution three years ago, forcefully recalled the urgency of promoting and protecting the rights of these people. To do this, however, it is essential to have a thorough understanding of their problems and needs and, in this regard, we realized that precise data was missing. Today, thanks to Women in Rare we have this data and we bring it to the attention of public opinion and institutions.” The objective is to urge actions that can both protect women caregivers in their daily care activity, which often leads them to leave their jobs, and help patients regarding the possibilities offered by precision medicine and the prevention of other pathologies: “It is necessary to help the former with a specific law that deals with caregiving, and the latter by offering assistance and advice”, underlines Scopinaro.
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Psychological support and local gender services
“Most of the women interviewed told us that the pathology also has a negative influence on their perception of themselves and their femininity, and that they often feel embarrassed due to the physical limitations it entails – she adds Nicoletta Orthmann, Medical-scientific director of Fondazione Onda ETS – The same happens for fertility, a delicate topic for many of them. With this campaign we want to shine a spotlight on the condition of these women, to ask for interventions from institutions that focus mainly on the offer of psychological support, on the creation of specific guidelines and diagnostic paths and on the implementation of local health services with attention to the issue gender.”
The Women in Rare campaign
Born in 2023, the Women in Rare project was conceived and promoted by Alexion, AstraZeneca Rare Disease together with UNIAMO, and with the participation of Fondazione Onda, ETS, EngageMinds HUB and ALTEMS of the Catholic University. A scientific committee, made up of experts from different specializations in the field of women’s health and rare diseases, supported it in all phases of development, up to the definition and approval of the final document. “We decided to promote the Women in Rare project to help improve knowledge of relevant aspects in women’s lives, such as the burden carried by patients or caregivers and the impact that the rare disease has on their lives – he concludes Anna Chiara Rossi, VP& General Manager Italy of Alexion, AstraZeneca Rare Disease – The privileged observatory from which we operate offers us the opportunity for an informed vision of the problems linked to these pathologies, which is why we feel the responsibility to act to encourage listening to these people and to give them a voice. With the implementation of the campaign and the distribution of the white paper, from which difficulties and needs emerge and from which it is possible to draw the tools for a reversal of direction, we hope to be able to kick off a process of change in favor of all women who deal with a rare disease every day.”