Rare diseases, women affected twice
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Perception of one’s image, disease management, access to treatment, fertility, belonging to cultural minorities and reconciling the role of worker with that of caregiver are some of the challenges that rare diseases impose on women. Yes, because if living with a diagnosis of a rare disease represents a real obstacle course for anyone, for women the difficulties increase exponentially, both when you are sick and as a caregiver. This is highlighted by an initial survey of the scientific literature – which in general deals very little with this issue – carried out by the EngageMinds Hub of the Catholic University of Milan.
To face these challenges, shed 360 degrees light on the impact (social, clinical, economic, psychological) of these diseases in the female population and reduce gender inequalities, “Women in rare” was born, the Alexion project dedicated to the centrality of women in the universe of rare diseases. A path aimed at exploring the impact of this specific condition on the various spheres of women’s lives, which will be articulated through the organization of institutional awareness events, a social campaign to raise awareness of rare diseases and the drafting of a “book white”, in collaboration with EngageMinds Hub, UNIAMO, Fondazione Onda, National Observatory on Women’s and Gender Health, ALTEMS and the scientific committee of the “Women in Rare” project, in which the main unsatisfied needs will be highlighted both from the patient’s perspective both of the caregiver.
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“For women suffering from rare conditions, body image can become a source of concern and depression due to the physical effects their condition can have. Not only that, the lack of awareness of rare diseases and the lack of knowledge can lead women to experience social stigma and to feel judged and discriminated against. Rare diseases also have a significant impact on the management of the daily life of women who are affected by them. Not knowing when and which symptoms will show up doesn’t allow you to organize your day, make plans and, more generally, manage daily and family commitments. In fact, they report that they always feel tired, not being able to do the shopping, take care of the house”, explains Guendalina Graffigna, Full Professor of Consumer and Health Psychology at the Catholic University of the Sacred Heart of Piacenza and Director of the EngageMinds HUB Research Center – Consumer, Food & Health Engagement Research Center.
A further aspect concerns fertility: several analyzes underline difficulties in processing feelings related to infertility associated with many rare diseases. This can contribute to feelings of anxiety, depression and isolation. Finally, another aspect that emerged from the research concerns belonging to a cultural minority. This feature constitutes a further complexity that must be taken into account because, in addition to gender-related inequities, the management of the rare pathology can be compromised by vulnerabilities related to cultural stereotypes, language barriers and different conceptions of health.
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The woman caregiver
Difficulties that do not only concern the case in which the patient is the woman, but also when she is responsible for the management of a sick family member. This happens in over 70% of cases. According to the estimates of a study conducted by Eurordis and Orphanet in 2021, based on the incidence and prevalence of each pathology, in Italy there are between 2.2 and 3.5 million people with rare diseases. 70% of the pathologies have a pediatric onset; two out of five to date are children or young people under the age of 18. Therefore, it is the women who take charge of everything. The role of caregiver for children with rare conditions can be extremely demanding and stressful, especially for mothers who assume the primary role of care. Mothers often carry a greater burden than fathers and take on more responsibilities in caring for their children. This can lead them to feel lonely and overwhelmed by these challenges.
Precisely this last point – that of the centrality of women as caregivers – represents an important challenge at an institutional level. “Diagnosis, treatment and support pathways for patients and their families largely depend on the Region in which they reside. That’s why more than ever a greater connection on the territory is needed to change the daily life of people with rare diseases through better social-health and home care. Change that for the role of women, both as caregivers and as workers, must go through structural interventions that guarantee the right to choose. This means facilitations for part time and smart working accompanied by home assistance that can also allow for a career choice. Initiatives such as ‘Women in Rare’, with the contribution of associations dealing with rare diseases, go in this direction”, comments Annalisa Scopinaro, President of UNIAMO (Italian Federation of Rare Diseases).
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We listen to patients
In this context, patient associations represent the engine for generating the necessary change. “For years, as a National Observatory on women’s and gender health, we have been committed to promoting a gender-oriented approach to health with particular attention to women. In the context of rare diseases, it is now more necessary than ever to promote both research and gender-sensitive interventions to ensure greater equity in the understanding and treatment of these conditions. To do this, patient organizations play a crucial role in understanding the needs of patients and caregivers. For this reason they must be supported and listened to. Only together will we be able to raise awareness of the centrality of the role of women and the fight against discrimination that we still experience today”, explains Nicoletta Orthmann, medical-scientific coordinator of the Onda Foundation.
“For 30 years Alexion has been engaged in the research of innovative therapies for the treatment of rare diseases. The experience gained alongside patients and their families has made us understand that treatment is not just a matter of medication. Taking charge of all aspects of the disease is the real cure. This is why we decided to give life to the ‘Women in Rare’ project”, concludes Anna Chiara Rossi, VP & General Manager Italy at Alexion, AstraZeneca Rare Disease.
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