On the occasion of World Gaucher Disease Day, we interviewed Dr. Miguel Ángel Torralba, expert in this lysosomal pathology, and Marisol Prieto, patient and president of the Spanish Association of Patients and Relatives of Gaucher Disease (AEEFEG).
Dr. Miguel Ángel Torralba is a specialist in Internal Medicine and has spent more than 20 years treating and studying Gaucher disease, a rare condition caused by a mutation in the GBA gene, which leads to a malfunction of the beta-glucosidase enzyme. “This enzyme is crucial for breaking down glucosylceramide, a lipid that accumulates in cells,” explains the doctor. “When the enzyme does not function properly, a toxic buildup occurs that severely affects organs and tissues, especially the liver, spleen, bone marrow, and bones.”
The pathology, which belongs to the group of lysosomal diseases, has set a paradigm in internal medicine. "If it had not been for Gaucher disease, we would not have learned a great many things about other diseases of the so-called lysosomal group that exist right now. We have the advantage that this pathology is the paradigm for many, many diseases."
Marisol’s testimony complements and clarifies such clinical words. “There are days when you wake up exhausted, for no apparent reason, and in pain. That affects not only you, but also your family.”
As the doctor points out, diagnosing Gaucher disease is not always straightforward. “Symptoms vary widely among patients. Some experience extreme fatigue, anemia, or enlargement of the liver and spleen, while others have neurological complications or severe bone damage,” he explains. This makes it difficult to identify the disease, especially since the symptoms can be mistaken for those of other conditions.
The clinical reality is that having the support of a multidisciplinary medical team (hematologists, internists, digestologists, psychologists, etc.) is essential to approach and manage the disease holistically.
Gaucher disease can be diagnosed through a simple dry-drop test, which measures the activity of the beta-glucosidase enzyme. “If this enzyme is less than 10% of normal levels, the disease is confirmed. Subsequently, the GBA gene is analyzed to identify the genetic mutation,” explains Dr. Torralba. “The dry drop test to measure enzyme activity is essential, but many patients are diagnosed too late,” he adds.
Diagnosis: sometimes late
In fact, Marisol is one of the patients who waited many years to receive a clear diagnosis. She was diagnosed with Gaucher disease at age 28, after enduring uncertainty and a lack of understanding for more than a decade. “I spent ten years without receiving the proper treatment,” she recalls. “I was fed up; I’d heard various opinions, but no one knew what was wrong with me.”
Today, he presides the Association that helped him to see the light after the diagnosis of a rare disease, Asociación Española de Enfermos y Familiares de la Enfermedad de Gaucher (AEEFEG) . (AEEFEG). "Our mission is to offer emotional and practical support. Many times, patients feel that they are alone in a situation that is new to them, and the association gives them a space to share their experiences and feel understood," she concludes proudly.
The fact is that, because this is a disease with very low prevalence (1 in 100,000, according to Orphanet), receiving a diagnosis is not easy. Being diagnosed (especially late) with a rare disease has a profound impact on those who suffer from it. Dr. Torralba points out that, although treatments have improved considerably, patients still face major challenges. “If treatment is started early, we can prevent serious complications in patients, especially bone-related ones. However, those who are not diagnosed in time or who live in areas without access to specialists suffer much more from the long-term effects,” the doctor notes.
The patient, who has experienced both sides of the coin, echoes the doctor’s remarks and is optimistic about the change in her life once she was able to receive the proper treatment for her condition. “With the right treatment, my quality of life has improved. But not everyone is so lucky, and we see that every day at the Association.” However, she makes a point of clarifying that, despite receiving treatment, her life is not a bed of roses: “There are days when I still wake up feeling extremely fatigued and with body aches. It doesn’t stop me from living my life, but sometimes it makes everyday tasks difficult.”
The importance of social awareness
As is the case every year, World Gaucher Disease Day is observed on October 1, and the Association emphasizes the importance of raising awareness about these types of diseases—which are not very common worldwide—throughout the year. However, to mark this occasion, through outreach activities on the street, they reinforce their commitment to raising public awareness about this and other rare diseases. “During World Gaucher Disease Day, we set up information booths so people can learn more about the disease and its symptoms. Many people may be living with Gaucher disease without knowing it, because they are unaware of the symptoms or even the existence of the disease,” he says.
For his part, Dr. Torralba agrees that education and raising public awareness are key. “It is essential that healthcare professionals and the general public learn more about these conditions. Early diagnosis is crucial for providing treatment that can improve the quality of life for patients seeking answers to their symptoms.”
Challenges and hopes for the future
Marisol's testimony, and at the same time that of Dr. Miguel Angel Torralba, describe a complex disease, both at the clinical and patient level, but at the same time, they coincide in a hopeful future for patients thanks to the effectiveness of the treatment and the advanced lines of innovative research that are being carried out and which they hope will soon be accessible to patients.
Marisol wants to conclude her interview with a message of encouragement concludes with a reflection full of resilience and hope. "The health and well-being of patients must be a priority for the healthcare system," she concludes. "There is still a lot to do, but together, we will continue to fight."
Undoubtedly, finding two voices that can bring such close points of view to the pathology is very difficult. Both, through their words, have managed to highlight the importance of empathy, research, resilience, and the impetus in the constant struggle to improve the lives of patients with rare diseases such as Gaucher.
