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 been treating and studying Gaucher disease, a rare pathology caused by a mutation in the GBA gene, which causes a malfunction of the enzyme beta-glucosidase, for more than 20 years. "This enzyme is crucial for breaking down glucosylceramide, a lipid that accumulates in cells," details the physician. "When the enzyme does not work properly, a toxic accumulation is generated 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 accompanies 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, the diagnosis of Gaucher is not always straightforward. "Symptoms vary greatly among patients. Some present with extreme fatigue, anemia or enlargement of the liver and spleen, while others present with neurological complications or severe bone damage," he explains. This makes identification difficult, especially because the symptoms can be confused with other diseases.
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.
The diagnosis of Gaucher can be made by a simple dry drop test, in which the activity of the enzyme beta-glucosidase is measured. "If this enzyme is less than 10% of normal, the disease is confirmed. Subsequently, the GBA gene is studied to identify the genetic mutation," says Dr. Torralba. "The dry drop test to measure the enzyme activity is essential, but many patients are late to the diagnosis," he adds.
Diagnosis: sometimes late
Marisol is precisely one of the patients who waited many years for a clear diagnosis. She was diagnosed with Gaucher disease at the age of 28, after suffering uncertainty and incomprehension for more than a decade. "I went ten years without proper treatment," she recalls. "I was jaded, I had several 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.
Because it is a disease with a very low prevalence (1/100,000, according to Orphanet), receiving a diagnosis is not easy. Being diagnosed (and even more so late) with a rare disease has a profound impact on those who suffer from it. Dr. Torralba stresses that, although treatments have improved considerably, patients still face major challenges. "If treatment is started early, we can avoid serious complications in patients, especially at the bone level. However, those who are not diagnosed in time or who live in places without access to specialists suffer much more from the sequelae," the physician points out.
The patient, who has experienced both sides of the coin, reaffirms what the doctor says, and is optimistic about the change in her life once she was able to receive the appropriate treatment for her pathology. "With the right treatment, my quality of life has improved. But not everyone is as lucky, and we see that every day at the Association." However, she is at pains to make it clear that, despite having treatment, her life is not a bed of roses: "There are days when I still wake up tremendously fatigued and with body pain. It doesn't stop me from going on with my life, but sometimes it makes it difficult for me to do my usual tasks".
The importance of social awareness
As every year, October 1st is celebrated as the World Day of this pathology, and the Association stresses the importance of informing about this type of diseases, which are not so common for everyone, throughout the year. However, coinciding with the ephemeris, through street outreach, they reinforce their commitment to generate awareness in society about this and other rare diseases. "During World Gaucher Disease Day, we hold information tables for people to learn more about the disease and the symptoms. Many people may be suffering from Gaucher without knowing it, because they don't know the symptoms or its existence," he says.
For his part, Dr. Torralba agrees that education and raising public awareness is key. "It is essential that health professionals and the general public learn more about these pathologies. Early diagnosis is crucial in order to provide treatment that can improve the quality of life of patients seeking answers to their discomfort."
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.
