The most vocational profession: World Doctors' Day
This December 3, World Doctors' Day, AELMHU would like to pay tribute to those professionals who, with full dedication, devotion and, above all, vocation, face the most complex challenges of medicine, specifically the approach to little known or common diseases, such as rare diseases.
Among them is Dr. Gómez Cerezo, Head of the Internal Medicine Service at the Infanta Sofía University Hospital and Coordinator of the Minority Diseases Group of the Spanish Society of Internal Medicine (SEMI), one of the key figures in the field of rare diseases and a reference for medicine in Spain. His career is that of a physician committed to his patients and his work, a passionate academic and a restless researcher who has dedicated his life to improving the care and quality of life of patients with rare diseases.
With a career spanning more than three decades, Dr. Gómez Cerezo is a reference in our country in the diagnosis and treatment of rare diseases. With a PhD in Medicine from the Autonomous University of Madrid, with multiple academic and research positions behind him, he has directed more than a dozen doctoral theses and has been principal investigator in numerous projects on rare diseases, metabolism and, in particular, Fabry disease. But his contribution goes beyond academia and research: he is a physician who, day after day, faces the emotional and professional challenges of dealing with patients, especially those diagnosed with low prevalence pathologies.
Diagnosis: the main challenge
One of the greatest challenges Dr. Gómez Cerezo faces in his specialty is the early diagnosis of rare diseases—a challenge that has historically been difficult and is now at the top of the list of demands from clinicians and patients. “Delays in diagnosing rare diseases have been a problem for years. The time between the first consultation and the diagnosis is too long. It’s true that it has been reduced in recent years, but it’s still not enough,” says Dr. Gómez Cerezo.
For him, advances in genetics and personalized medicine play a crucial and determining role. The use of genetic tools to identify low-prevalence diseases is revolutionizing the way doctors approach these cases. The ability to offer an accurate diagnosis not only improves the prognosis of patients, but also offers an answer to families who, for years, have been forced to live with uncertainty and have seen their quality of life reduced because they have been unable to access adequate treatment.
"The delay in diagnosing rare diseases has been a problem for years.
has been a problem for years.
In this vein, the doctor is also pleased to acknowledge that one of the greatest advances in modern medicine is the incorporation of artificial intelligence, which is establishing itself as an invaluable tool for improving both diagnosis and care. “Artificial intelligence has enormous potential in the field of rare diseases. From detecting phenotypic patterns to helping make high-probability diagnoses, artificial intelligence is revolutionizing the way we treat patients,” he says.
Artificial intelligence not only helps doctors diagnose rare diseases more quickly, but it also optimizes case management and patient follow-up, improving patients’ quality of life and making the healthcare system more efficient. “The future looks promising,” Dr. Gómez Cerezo notes optimistically. “Technology and artificial intelligence will allow us to make progress in the diagnosis and treatment of these diseases, improving patients’ quality of life and making the work of healthcare professionals easier.”
Patients: the center of everything
Along the same lines, Dr. Gómez Cerezo also emphasizes the importance of treating patients with a comprehensive approach—that is, addressing all aspects of their health. “Multidisciplinary and interprofessional work is key. Teams must be diverse, including not only doctors but also nurses, psychologists, social workers… Everyone must be involved in the patient’s care,” he states firmly. Care must not only be medical but also emotional and social—something essential for patients and their families, for whom the psychological burden of the illness often feels just as heavy as the physical one.
Dr. Gómez Cerezo’s calling does not stem from a specific interest in rare diseases, but rather from a broader passion for internal medicine and the challenge of diagnosing and treating patients. “The calling to be a doctor has to do with the desire to help patients through diagnosis and treatment. “At first, when I started at La Paz Hospital, I didn’t plan to specialize in rare diseases, but little by little you realize that it’s a world with unique challenges—challenges that, although difficult, enrich you both professionally and personally. Every new case is a challenge that forces you to study and get involved…,” he reflects.
Along the way, circumstances and opportunities have shaped his career path. Although his generalist approach allows him to treat a wide variety of conditions, he has found in rare diseases a field that combines his scientific curiosity with his desire to improve his patients’ lives. “Every case is unique, and every diagnosis is a challenge. That’s what motivates you to keep researching and learning—that, and helping patients,” he says.
For Dr. Gómez Cerezo, doctors must provide special care to patients with rare diseases—something that goes beyond mere medical expertise. “Patients with rare diseases need a specialized care system—an approach that is not only technical but also humane,” he emphasizes. Bringing together the expertise of different professionals is not only “necessary in these cases” but also ensures that patients and their families receive comprehensive care, avoiding the chaos and confusion they often experience when dealing with multiple specialists.
Furthermore, social and psychological support are essential in the treatment of these diseases. “Patients need not only medical treatment, but also guidance on available social assistance, psychological support, and, in general, resources to cope with their new realities,” notes Dr. Gómez Cerezo. He acknowledges that there is still much to be done, especially in the area of psychological support, which becomes an urgent need for conditions that have no curative treatments, but only interventions to control or slow the progression of the disease and its symptoms.
Through his experience, Dr. Gómez Cerezo has also learned to cope with the emotional toll of working with rare diseases. The difficulty of many diagnoses and the impact of having to communicate them to families—sometimes definitively—are particularly difficult and pivotal moments. “A diagnosis of a rare disease can be devastating, so it is essential that the doctor not only deliver the news but also clearly explain the therapeutic options and treatment possibilities,” he says.
It is a process that requires great sensitivity and empathy, and one that, according to Dr. Gómez Cerezo, must be accompanied by a management plan that offers hope and peace of mind. “The challenge is not only to diagnose, but also to provide emotional support to the patient and their family throughout the treatment and, more broadly, throughout the entire course of the disease,” he explains.
For Dr. Gómez Cerezo, the future of internal medicine—particularly in the field of rare diseases—is shaped by scientific progress, but also by a profound change in the way care is organized and coordinated. “The next challenge is to achieve faster and more effective diagnoses and to improve treatments for rare diseases. But we must not forget that organization and support for families are just as important,” he concludes.
Today, on World Doctors' Day, we celebrate the dedication, effort and commitment of professionals like Dr. Gómez Cerezo, who, with their vocation and passion for medicine, continue to fight for a future in which the diagnosis and treatment of rare diseases is not a challenge, but an increasingly attainable reality.
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