29/04/2025
The World Day of People without Diagnosis wants to make visible the difficulties faced by the thousands of people around the world who still do not have a clear diagnosis for their condition. In this context, we spoke with Estrella Mayoral, social worker and head of the direct care axis at the Spanish Federation of Rare Diseases(FEDER), about the crucial role of the organization in the care of these cases. She has been with the Federation for almost 25 years and has been instrumental in the creation of the Information and Guidance Service on Rare and Undiagnosed Diseases.
Requests from FEDER
FEDER's work with people without diagnosis focuses on two fundamental aspects. First, social transformation, which seeks changes in the way society, administrations and health professionals approach rare diseases, diagnostic delay and their treatment. "One of the key points in our Decalogue is early diagnosis, which not only advocates improving the identification of rare diseases, but also includes the fight for neonatal screening that covers many more pathologies and guarantees equity at the national level," explains Estrella.
Neonatal screening, a test performed on newborns, can detect metabolic diseases such as phenylketonuria. This test prevents children from developing disabilities, such as intellectual disability, or experiencing worsening of their disease through specific treatment from birth.
Although the Ministry of Health has begun to make progress in this regard, implementation remains uneven among the different autonomous communities. Mayoral stresses the importance of a "broader and more uniform screening," which would allow the early detection of rare pathologies in all regions of Spain. "The current system is inefficient because it depends too much on the will and budgets of each autonomous community" he laments.
Another important advance promoted by FEDER is the creation of the ORFA code 616874, which identifies undiagnosed cases after an exhaustive investigation. "This code is essential to know how many undiagnosed cases there are in each autonomous community and to be able to study them properly. If it is not applied, we cannot identify and address these cases efficiently," stresses Estrella. "For this reason, we ask all clinicians to please start using this code in their reports."
Second, Direct Attention, which through its services seeks to promote the diagnosis of those people who consult with the Federation and for this, since 2004, FEDER has worked to create a database that includes people without diagnosis, with the aim of "bringing together the cases and promoting that a diagnosis is achieved for these people." Over the years, the organization has served nearly 4,000 people without a diagnosis.
Lack of knowledge about the magnitude of the problem is one of the biggest barriers. "Without data, we can only make estimates, which makes it difficult to plan effective health policies," he adds.
But in this mission, FEDER does not act in isolation in its fight to obtain diagnoses for the undiagnosed. "We work closely with medical professionals and researchers through programs such as IIER's ERv research institute, Spain UDP and the IMPACT program, which are focused on accelerating diagnoses," and ENOD, CIBERER's program for undiagnosed cases, explains Estrella. In addition, the organization collaborates with ORPHANET by providing diagnostic support tools to people from Latin America, who often face more difficulties than in Spain. FEDER also has a Scientific Advisory Committee that helps them with the undiagnosed cases that reach the organization.
Diagnosis and gender
As for the time it takes for a person to receive a diagnosis, Estrella highlights an alarming fact: "The diagnostic delay in Spain is six years on average, according to the latest study carried out in 2023, "Determinants of diagnostic delay". From the first year after the onset of symptoms we are already talking about diagnostic delay, but six years is an unsustainable time due to the progress of the disease and the psychosocial consequences this situation has on the affected person, their family and immediate environment.
This delay has a devastating impact on people's lives. "When someone does not have a diagnosis, they experience a sense of loneliness and uncertainty, they do not understand why they do not find an answer in the healthcare system and cannot access appropriate treatments. This can even lead to treatments that aggravate their condition because they are incorrect," explains Estrella.
FEDER, in this same line of work to promote research, improving diagnostics, also advocates for a more inclusive and equitable research. "In research on rare diseases, the reference body has always been male, which generates inequality in the diagnosis and treatment of diseases that mainly affect women," she says.
"We are again facing the same gender gap that, unfortunately, still exists in medical diagnosis. Women take longer to be diagnosed than men, despite the fact that the female body is much more complex, hormonally and by the fact of generating life, the male body has been taken as a reference in research" This reflection, as clear as it is worrying, highlights the disparities faced by women in the field of health, which translates into a slower diagnosis, as is also evident in the study "Determinants of diagnostic delay".
Disability
The situation worsens when we talk about disability linked to rare diseases. Mayoral explains that "the degree of disability is not necessarily linked to a disease, but to the difficulties a person faces in carrying out basic and instrumental activities of daily living." This is a crucial concept that is often confused: "A person who, for example, suffers an accident and loses a leg, is not ill, but does have a disability that limits his or her daily life."
Regarding the possibility of obtaining the degree of disability without a diagnosis, the answer is affirmative. "It is not necessary to have a diagnosis to obtain the degree of disability. If a person has difficulties in carrying out basic activities, he or she can be recognized as a person with a disability."
A clear example of this is the metabolic disease called "fishy odor", or trimethylaminuria. People suffering from this condition have no difficulty performing everyday activities, but they face great social discrimination due to the strong body odor they emit, which limits their participation in society, both in the workplace and socially. "These people have a clear limitation in their participation, something that until now had not been taken into account when assessing their disability," Mayoral points out.
FEDER's fight does not stop there.. The organization offers support not only to those seeking a diagnosis, but also to those who have been diagnosed with a low-prevalence disease and require psychological care, social care, education, legal guidance or support in applying for disability status. "FEDER's direct care services are public utility services that are available to affected people, their families, professionals, students who need support, guidance and / or information," says Estrella.
On this World Day of People without Diagnosis, from FEDER, and through Estrella, calls on society to "be respectful of those who are struggling to obtain a diagnosis and not be carried away by prejudice or uninformed opinions." She also advocates for greater empathy towards those going through these complex situations, urging people to "listen with understanding and without judgment, as we would like to be treated if we were the ones affected."
If you have any questions, FEDER's support team is at the disposal of affected people and their families through these emails:
sio@enfermedades-raras.org psicologia@enfermedades-raras.org
