On the occasion of World Depression Day, which is commemorated on January 13, we talked to Isabel Motero, psychologist and current director of the Spanish Federation of Rare Diseases (FEDER), who has dedicated almost 20 years of her professional life to the psychological support of patients with these pathologies and their families and who, throughout this time, has witnessed the enormous emotional difficulties they face and how, many times, the treatment 'that is not seen', remains in the background in front of the urgency of the treatment that 'is seen'.
Isabel Motero looks back on her early years at FEDER, where she began working as a psychologist, with nostalgia and, at the same time, a hopeful outlook on the advances in this field. “When I started, there was nothing written about rare diseases in the field of psychological care. There was no understanding of these diseases, much less of what it meant to deal with them from a psychological perspective,” she says, highlighting how isolated this topic was back then. But the landscape has changed; psychology has evolved from being a secondary tool to becoming a fundamental component in improving the quality of life for those affected by these rare conditions.
The Federation highlights the importance of emotional support throughout the entire process—from the first symptoms to diagnosis and disease management—though it emphasizes its value especially when a diagnosis is delayed or uncertain. “One of the most difficult moments is when there is no diagnosis, when you know something isn’t right with your body, but they can’t find the answers. That emotional void creates a great deal of despair, both for the patient and those around them,” they explain. This emotional uncertainty is one of the heaviest burdens that patients and their families have to bear; in addition to the physical discomfort caused by the symptoms of their condition, they face the anguish of not finding clear answers about what is actually happening to them.
Emotion management
Over the years, it has become clear that a diagnosis of a rare disease not only affects a person physically but also triggers a wide range of emotions that are difficult to cope with. “When someone is faced with a rare disease, they’re not only dealing with physical symptoms but also with an emotional roller coaster. There is fear, sadness, anger, and guilt—especially when it comes to genetic diseases. Parents feel that, somehow, they could have done something differently.”
"Often, people tend to isolate themselves. And that has a lot of impact
on mental health. If no one understands you and if you can't
talk to anyone, the pain gets even deeper."
All of these emotions are part of a complex process that can be devastating not only for the patient but also for their loved ones. There are many cases in which families feel completely alone, which leads to an increased emotional burden. “People often tend to isolate themselves. And that has a significant impact on mental health. If no one understands you and you can’t talk to anyone, the pain becomes even deeper.” This is where FEDER’s role becomes crucial: “We work to create support networks and mutual-aid groups where those affected and their families can share their experiences and feel that they are not alone,” she notes.
Proof of this can be found in the many testimonials from families whom these tools have helped overcome their sense of isolation. “I remember a mother with epidermolysis bullosa who said, ‘It hurts me to treat my son’s wounds because I know what it’s like to go through that myself.’ “Those words reflect how pain is not only physical but also emotional,” Isabel recalls. These shared moments are what, according to her, help families understand that they are not alone in their pain, and that suffering can be more bearable when it is shared.
Reality in numbers
Recognizing the importance of training in improving psychological care in this field, FEDER—as a demonstration of the significance of this issue and its commitment to it—has promoted the creation of tools that enable healthcare professionals to address the specific emotional challenges associated with rare diseases. In collaboration with the University of Seville, the organization launched a master’s program in psychology and rare diseases, with the goal of training psychologists to be well-prepared in this field and able to specialize in treating these patients: “Knowledge is power, and our goal is to ensure that those dedicated to psychological care are well-prepared to address the emotional complexities that arise when dealing with rare diseases,” he confirms.
Despite this, the Federation is fully aware of the limitations and lack of resources. “In Spain, the demand for psychological care for rare diseases is extremely high. However, resources are insufficient. We need more professionals and, above all, greater awareness of mental health issues related to these conditions,” she adds with a sense of urgency. The road ahead, she says, is long, but it is one of the top priorities in this area.
In this context, FEDER data clearly reflect the need for psychological support. In the last year, 2,607 individualized services were provided, distributed among 300 telephone services, 226 face-to-face, 1,190 by e-mail and 891 online. Through these resources, 511 users were assisted, of whom 462 were diagnosed and 49 were undiagnosed.
The data also reflect the positive impact of psychological care. Seventy-six percent of the people obtained a significant improvement in at least 4 of the 6 variables measured by the test, and 64% of the people improved in all the variables evaluated. The improved variables were depression, anxiety, thought problems and psychophysiological symptoms (81% of the people), irritability (74% of the people) and uselessness (70% of the people), and we can conclude that more than 75% of the users have had a significant improvement at an emotional level after their passage through the service.
For Isabel Motero, World Depression Day is not just a date on the calendar, but an opportunity to raise public awareness about the importance of mental health, especially among patients with rare diseases. “Mental health is a right that must not be ignored. It is not only necessary to support patients in their physical treatment, but also in their emotional well-being. And that must be a priority.”
As reflected in the data analyzed by FEDER, our society urgently needs a paradigm shift and a new approach to mental health care for people with rare diseases. “Our goal is not only to ensure that patients don’t feel alone, but also that they feel there is a team by their side, ready to help make their lives a little easier,” he concludes.
Empathy, emotional support and continuous training are key to improving the quality of life of people living with a rare disease and their families, a challenge that requires everyone's collaboration.
Alliances
With this, the director of FEDER emphasizes that we must not forget the work to be done with other alliances within the field of psychology to continue advancing in knowledge and in the detection of psychological care needs, as well as promoting mental health and well-being of the group. To this end:
- At European level, FEDER participates in the EURORDIS Working Group on Mental Health and Rare Diseases: through which experiences are exchanged with other professionals at European level. In 2025 it plans to detect through a survey called "Rare Barometer Voices" what are the needs that exist on mental health in RD; it has also worked on the co-creation of a "Toolbox" on Mental Health to make available to patients with a rare disease and their families, professionals, and society in general.
- In Spain, the Federation has joined forces with the Hospital Sant Joan de Déu, and through the Share4rare project is conducting a study on the psychological care received by people with rare diseases in Spain. The aim of the study is to evaluate the degree of satisfaction and compliance with the psychological therapy prescribed to rare disease patients in Spain. It also aims to identify unmet needs and to evaluate equity in access to such treatments among the Autonomous Communities of Spain and, at this moment, conclusions are being drawn which will be published soon.