Dear Colleagues,

Between 6 and 8% of the world's population will suffer from a rare disease in their lifetime. It is estimated that there are between 6000 and 7000 rare diseases, affecting more than 300 million people worldwide.

More than 80% of rare diseases have a genetic component, generate some kind of disability in the affected person and have a high economic cost. The adoption of next-generation sequencing has improved the diagnosis rates of rare diseases over the last decade. However, most people suffering from a rare disease do not have an accurate diagnosis.

Rare diseases can lead to a loss of physical function, cognitive impairment, communication disorders, emotional problems and even social isolation. Therefore, any of the spheres that make up the holistic view of human beings can be altered, as well as the quality of life of sufferers and their families. However, there is currently a paucity of designed and validated outcome measurement tools for people living with rare diseases. Therefore, this must be addressed, as well as the adaptation and validation of the existing generic questionnaires for each disease, so that they can be used in clinical trials.

There is no scientific evidence on a large number of aspects related to rare diseases, and protocols for action are lacking. Therefore, nurses cannot provide the most appropriate care, including those suffering from the disease and their caregivers. This means that the vast majority of health personnel do not have the appropriate training to provide quality care adapted to the altered needs of each patient.

This Special Issue aims to address the relevant aspects of pregnancy, childbirth, puerperium, breastfeeding and sexuality in the world of rare diseases, and thus to provide updated information on this field that will have a significant impact on the quality of life of patients and the training of professionals.

Systematic reviews, case studies, meta-analyses and qualitative studies are welcome in this Special Issue.

Dr. Juan Carlos Sánchez-García
Dr. Raquel Rodríguez-Blanque
Dr. Jonathan Cortés Martín
Guest Editors

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• pregnancy
• childbirth
• puerperium
• breastfeeding
• sexuality
• rare diseases