Alphamanosidosis is a rare, serious and difficult to diagnose disease that affects a small number of people in the world, and whose life often depends on early diagnosis and appropriate treatment. According to Orphanet data , it affects only about 1/500,000 live births.
This disease, of genetic origin, is characterized by immune deficiency, facial and skeletal abnormalities, as well as hearing impairment and intellectual disability.
In this report, we gather two key testimonies to understand the reality of alpha-mannosidosis: Jordi Cruz, director of the Lysosomal MPS Association, and Dr. Álvaro Hermida, from the Unit of Diagnosis and Treatment of Metabolic Diseases in Santiago de Compostela. Both offer us a broad and detailed vision of what this pathology is and what it implies for patients, their families and the healthcare professionals who deal with this disease on a daily basis.
A difficult diagnosis, an uncertain future
"The most difficult thing about alpha-mannosidosis is not only the disease itself, but the time that passes before there are symptoms, until these are framed in a clear diagnosis that allows us to start acting," says Jordi Cruz, who for more than two decades has been leading the fight for the recognition of rare diseases such as alpha-mannosidosis through the MPS Lysosomal Association. For him, the starting point and the key to any other issue lies in early diagnosis.
"Doctors, due to their lack of knowledge of these rare pathologies, may not suspect that it is a rare disease. It takes a long time to identify it and, in the meantime, patients and families suffer," laments Cruz. Unfortunately, this also leads to patients being misdiagnosed with conditions that have nothing to do with these pathologies, which delays early access to appropriate treatments. According to Cruz, diagnosis can take years, which means enormous uncertainty for families.
"Misdiagnosis or in most cases, late diagnosis,
is a sentence for many of these patients."
Dr. Alvaro Hermida, a specialist in lysosomal diseases, clearly explains that alpha-mannosidosis is difficult to diagnose, especially in its milder forms, as the symptoms often overlap with other more common pathologies. "The disease mainly affects the bone, cognitive and immune systems, but the signs may not be evident until the damage is already very advanced and irreversible," the doctor points out. According to his clinical experience, immunodeficiency is one of the first symptoms, leading to recurrent infections, especially in the respiratory tract. In addition, many patients develop cognitive difficulties that severely affect their academic performance and adult life.
"An erroneous or, in most cases, late diagnosis is a sentence for many of these patients," explains Cruz, who recalls how his daughter Sofia was diagnosed with SanFilippo syndrome, another rare disease of lysosomal origin, before he became fully involved in the fight for the rights of patients with diseases such as alpha-mannosidosis.
In fact, this was the reason why Jordi today, and for 20 years now, has been raising his voice in this cause. He knows firsthand what it is like to face uncertainty about the future and how it takes hold of families, who must face a long, painful and in many cases extremely costly process in search of answers.
Therefore, when the diagnosis comes late, the consequences for patients are devastating. Life expectancy is drastically reduced, and symptoms progress rapidly since alpha-mannosidosis is a multisystem disease, meaning that it affects several vital organs and functions of the body. As the disease progresses, affected individuals experience cognitive impairment that deprives them of essential skills, such as speech and the ability to learn, as well as suffering from bone deformities, such as scoliosis or joint problems.
"The disease is progressive," Dr. Hermida explains, "and patients end up being totally dependent, although very aware that they are. And that can be devastating for them." The deterioration affects not only the body, but also the mind, and patients often experience severe psychiatric problems. Without treatment, sufferers see their world falling apart, with respiratory complications, loss of mobility, and a much lower quality of life.
But the situation can be different, if appropriate treatment is started early. Although there is no cure for alpha-mannosidosis, enzymatic treatment has proven effective in slowing the progression of the disease and improving patients' quality of life. "If started early, life expectancy can be extended to 50 years," says Dr. Hermida, "but if the diagnosis is late, the damage is already irreversible, especially in the brain, and patients' life expectancy is greatly shortened, as is their well-being."
"Despite advances, we are still far from having treatments that cure the disease. We need more research, more resources, and more social support."
The work of patient associations
The MPS Lysosomal Association, led by Jordi Cruz, plays an essential role in supporting families and fighting for better diagnosis and treatments. Founded in 2003 following the diagnosis of his daughter Sofia, the association has grown exponentially, providing support to more than 1,600 people in Spain facing lysosomal diseases. "Twenty years ago we were just three families looking for many answers to our questions, today we are more than 600," Cruz enthuses. But, undoubtedly, all the results obtained are backed by a lot of hard work.
Support for families is not limited to medical information, which of course plays a very important role. Cruz highlights the importance of offering psychological support, something that is often forgotten in the treatment of rare diseases and which both physicians and families stress as 'indispensable'. "What these families need most is for someone to listen to them and give them answers. They cannot walk alone in this darkness," he adds. Precisely because of this, the association also encourages the creation of a support network, where those affected can share experiences and resources, which creates a space of hope in the midst of the uncertainty that a diagnosis of a rare disease provides.
Property of Lysosomal MPS
An optimistic view of the future
Despite advances in diagnosis and treatment, much remains to be done. Both Álvaro and Jordi stress that including lysosomal diseases such as alpha-mannosidosis in universal neonatal screening is an urgent priority to address treatment. "Early diagnosis could save many lives and improve the quality of life of these patients," they say. At present, the lack of knowledge about these diseases and the lack of access to diagnostic tests delay the clinical approach:
"Despite the advances, we are still far from having treatments that cure the disease. We need more research, more resources, and more social support," concludes the Doctor.
The story of alpha-mannosidosis is the story of thousands of families who, day after day, live with a disease that conditions their future, not only that of the patient. With late diagnoses, treatments that, as a consequence, arrive late and a health system that is not yet fully prepared to face the challenge, patients live with the uncertainty of tomorrow.
However, thanks to the efforts of people like Jordi Cruz and professionals like Dr. Álvaro Hermida, there is a beacon of hope. The battle continues, but every advance, every shared story, every voice raised in defense of these patients, is another step towards a better future.
"The system must offer immediate answers that solve. We must strongly support research and funding for the treatment and diagnosis of rare diseases," concludes Cruz, in the hope that, someday, no patient with alpha-mannosidosis will have to face the anguish of uncertainty, a late diagnosis and an unknown future.
