Throughout April, Fabry Disease Awareness Month is commemorated. We talked to Dr. Mónica López Rodríguez, head of the Internal Medicine Section at the Ramón y Cajal Hospital in Madrid, and Sandra Martín, member of the Board of Directors of MPS Lisosomales and patient of this disease, to tell us, first hand, what it means to live with this rare disease.
According to Orphanet, Fabry disease is a rare multisystemic lysosomal disease of genetic origin characterized by specific cutaneous (angiokeratoma), neurological (pain), renal (proteinuria, chronic renal failure), cardiovascular (cardiomyopathy, arrhythmia), cochleovestibular and cerebrovascular (transient ischemic attacks, strokes) manifestations.
With this, and as Dr. Lopez explains, and so that we can all understand it better, Fabry pathology is a very rare and complex condition that mainly affects the internal organs and, due to its genetic origin, is inherited in a very specific way, mainly linked to the X chromosome (women) and is caused by a defect in a gene called GLA. This gene is responsible for the production of an essential enzyme, alpha-galactosidase, which helps to break down certain substances in the body. When this enzyme does not function properly, these substances accumulate in various organs, such as the kidneys, heart and nervous system, resulting in a series of severe symptoms that hinder the normal course of patients' lives.
The doctor also explains that the most common symptoms, which appear especially in childhood, are neuropathic pain, especially in the hands and feet. This pain is often experienced as a burning sensation, which is aggravated by temperature changes. As the disease progresses, other problems, such as heart and kidney difficulties, may appear and become more noticeable - and more affecting - in adulthood.
What living with Fabry involves
To explain what it means to live with this condition, we have the testimony of Sandra Martín, a member of the board of directors of MPS Lipsosomales who is, at the same time, a patient diagnosed with Fabry disease for more than 20 years. She tells us about her experience and how this disease has influenced - and marked - her life and, despite having a life that may seem totally normal, Sandra fights daily against the symptoms of this rare pathology that sometimes slow down her life.
One of the most common for her is pain in her hands and feet. "It's easier for me to split a steak with scissors than with a knife," she recounts, highlighting how her physical limitations, especially when she is in a 'flare-up', affect even the most everyday tasks such as eating or gripping something heavy with her hands. She says that, at times, it is totally impossible for her to get out of bed because of these pains that prevent her from walking or something as normal as 'going to pick up her daughter from school', she explains.
Sandra also places great emphasis on her stomach problems, an important part of her daily struggle with this pathology and one that has truly conditioned her physical and mental health. "I always had to keep an eye on the toilets when I left the house, because episodes of diarrhea and vomiting were frequent and marked my day to day life." However, thanks to a treatment she started taking relatively recently, and always under the guidance of her medical team, Sandra's health has improved considerably, although not completely. "Now I have improved my quality of life, but the pain is still there," she explains.
Source: Lysosomal MPS
Diagnosis of Fabry disease is not straightforward, as it is not performed by neonatal screening, like other rare pathologies. However, when patients present symptoms such as unexplained renal failure or cardiac problems, specific tests can be performed. Dr. Lopez tells us that, to confirm the diagnosis, alpha-galactosidase activity is measured in the blood, with a specific test, or molecular studies are performed. As in the vast majority of rare diseases, early diagnosis is essential to start treatment in time and avoid serious organ damage or even improve the quality of life of patients from an early age.
Living with Fabry disease means not only dealing with the physical symptoms, but also with the emotional and psychological effects of the disease. As in many other cases, patients suffering from this disease are forced to apply for a disability certificate because their symptomatology prevents them from working in an ordinary way. In this sense, Sandra tells us: "It has cost me more to fight with myself than with the administration to get the help I need". The process to be recognized as a person with a disability took her more than a year of paperwork, an added challenge to the difficulties of the disease.
For her part, Dr. Lopez stresses the importance of improving the quality of life of patients and the unmet needs that still exist with respect to this disease. "Although many can lead a relatively normal life, Fabry patients often perform worse on quality of life scales due to neuropathic pain and cardiac and renal complications," she says. Therefore, the approach must be fully multidisciplinary and patient care should not only focus on physical treatment, but also on providing comprehensive emotional support.
Beyond treatment: prevention
Although Fabry disease remains a complex condition, there is hope on the horizon. Dr. Lopez mentions that advances in gene therapy could be a possible alternative in the future, offering other therapeutic options to those that already exist. She also stresses that more objective biomarkers will be crucial to measure the efficacy of treatment and make better decisions about the evolution of patients.
Sandra also remains hopeful. Although the disease has changed her life, she continues to fight for her well-being and that of her daughter whom, unaware that she would transmit her disease, she gave birth to a couple of years ago. "I have made difficult decisions, such as opting for embryo selection to prevent my second child from inheriting the disease. It is a struggle, but I make it my family," she says with determination.
Regarding embryo selection, Sandra comments that there is still a great deal of ignorance about the hereditary transmission of rare diseases. She, for example, was completely unaware that this type of action could be taken when having children in order to avoid it. Like so many things in her disease, until she did not find a good specialist in her disease, she did not know about it.
In fact, she goes out of her way to acknowledge the professionalism of the entire team that treats her at the Hospital de la Paz, in Madrid. So much so that she considers her doctor, whom she refers to as 'Don Aquilino', as another member of her family and knows that, with any doubt related to her pathology, she does not hesitate to call him: 'I pick up the phone and he is always there', she adds.
While all these advances in both treatment and management have improved the prognosis and quality of life of patients, there are still significant challenges that need to be addressed. Both physicians and patients face a road full of obstacles, but also of hope: the great claim is not only to treat the disease, but to offer patients a better quality of life and more opportunities to adapt and live fully.
