Societal, Legal, Medical, and Artistic Discourses and Practices of Emerging Gender Identities

Awareness-raising, social inclusion, and support services for female patients with a diagnosis of Rare Disease

There is usually a "diagnosis odyssey," lasting between five and eight years until the patient discovers their diagnosis. Around 30% of patients do not live until their fifth birthday. Female patients with rare diseases face unique challenges, especially regarding their reproductive health and sexual identity.

Growing up with these challenges, parents and healthcare professionals are usually more concerned about the health issues of the patients rather than puberty, first menstruation, and dealing with adolescence. Often overlooked in medical discussions, their needs are affected mainly by societal stigma and a focus on biological or genetic aspects of their conditions.

This topic is critical in the rare disease community. However, it has not yet been thoroughly researched to provide definitive answers and suggestions for improving the quality of life for patients with rare disease diagnoses. In this paper, suggestions are gathered to highlight how different factors marginalise women's sexual identity and possible healthcare issues.

Healthcare professionals are dealing with the primary diagnosis and the effects of therapy if available, but even the transition period from paediatrics to adulthood is sometimes an enigma to them.

An even bigger question is the effects of diagnosis and therapy, maybe even side effects, on the puberty, sexuality, and bodily autonomy of female patients' identity.

Raising awareness about this topic is crucial for informing and educating the public, as well as reminding healthcare professionals about the experiences of these women.

Questions in the Rare Diseases Community

A community of patients with rare diseases has led to more than one initiative. The National Organisation for Rare Diseases in Serbia (NORBS) is vital in promoting understanding and reducing stigma about patients with rare diseases.

The results of the Rare Barometer Initiative, a comprehensive study organized by EURORDIS, provide valuable insights into patient responses and experiences when receiving services for the rare diseases community.

Rare Barometer Initiative, EURORDIS

 

What are the options?

That way, the body autonomy of female patients with rare disease diagnoses can be respected for the bodily autonomy and sexual health needs of female patients dealing with hormonal changes and appropriate emotions and sexuality.

This abstract evidences the need for discussion, with the primary goals of enhancing awareness, promoting social inclusion, and developing multidisciplinary support services.

The aim is to improve the overall quality of life for girls and women with rare diseases. Devotion to these principles can foster a more equitable healthcare system that recognises and supports different personalities, needs, and experiences.