2/07/2025
This June 2 marks International Myasthenia Day, a date that is little known, but fundamental for those who suffer from this rare disease.
This is the case of Raquel Pardo who, when she was just over thirty years old, her body began to fail her for no apparent reason. Extreme fatigue, double vision, drooping eyelid, trouble speaking, swallowing and walking. What began as a vague feeling of exhaustion soon became a crippling reality. That diagnosis that took years to arrive gave her pathology a name: myasthenia gravis.
Today, Raquel not only lives with this rare disease, but also leads since 2020 the Myasthenia Association of Spain (AMES)an organization that has become the main national reference for patients, families and health professionals. From the presidency, and together with a team of volunteers also affected, she has promoted innovative projects of care, support, research and visibility.
What is myasthenia gravis?
Myasthenia gravis is a chronic, autoimmune neuromuscular disease. It occurs because the immune system blocks or destroys the receptors that allow communication between nerves and muscles. The result: weakness and loss of strength in upper and lower extremities (arms and legs) and muscle fatigue that prevents performing basic tasks such as walking, eating or talking. Although chronic, it is not degenerative. There are also other forms, such as hereditary congenital myasthenia, a group of rare generic disorders that affect the same neuromuscular transmission mechanisms, but are due to inherited mutations and not an immune system response.
There are days when people with myasthenia cannot hold a cup or climb a step without feeling they are going to fall. Symptoms vary greatly among patients -that is why it is called the snowflake disease-, but among the most frequent are double vision, drooping eyelids, dysphagia (difficulty swallowing), dysarthria (speech problems), and in severe cases, respiratory difficulty.
In addition, as it has no visible physical marker and appears at any age, patients take months or years to be diagnosed. In many cases, the diagnosis comes after a long pilgrimage through doctors' offices where they attribute these symptoms to stress, anxiety or lack of sleep. When you are finally told that you have Myasthenia, you often feel relief. Finally someone puts a name to what is happening. It is not an exaggeration or something that was in the heads of those affected by this disease.
From diagnosis to presidency
Raquel received her diagnosis in 2012. From the beginning, she knew she had to get involved: "I needed to understand, to help, to feel useful". She started as a member of AMES, then became a delegate for the Valencian Community and since 2020 she has been the national president.
What makes AMES special is that it is run and staffed mostly by people affected. "There are nine of us on the board and we all live with the disease. We don't get paid. We do it out of commitment and necessity," she stresses.
This authenticity translates into a very active agenda. AMES offers everything from individualized and group psychological care, speech therapy workshops, mindfulness groups and adapted mobility, to projects such as the Camino de Santiago adapted for people with myasthenia, which they have been organizing since 2016. "It is a transformative experience. For many it is a vital 'check'. Something they thought they would never be able to do, and they achieve it," he says proudly.
In 2024, the Path took an international leap: thanks to the support of European entities, people from countries such as Romania, France or Poland, all affected by myasthenia, took part. "It was a before and after. It shows that what we do here can inspire outside."
Multidisciplinary care
The Public Health System, Raquel explains, does not offer many of the services patients need. "There is no specialized psychological care. That's why AMES has been funding it for more than six years. We also started individualized speech therapy when we saw that group workshops were falling short. And now we are launching nutrition workshops, because many people with myasthenia have digestive problems."
This is in addition to physical therapy. Despite the fact that a sedentary lifestyle worsens the disease, there are no adapted public physical therapy programs. AMES offers weekly Zoom sessions and personalized attention to strengthen the affected muscles.
But the challenge is not only physical. The emotional burden is enormous. "There are breakups, job loss, social isolation. Sometimes you have to justify why you sit on public transport in a reserved seat. It's an invisible disease and at every step we take, we have to justify ourselves," she laments.
A day for visibility: June 2
Every year, AMES organizes a national awareness campaign on the occasion of International Myasthenia Day. In 2024 they launched "Unknown Athletes", with real patients as protagonists. It was the first time they combined online and offline campaign, and its success was resounding. "The campaign was born out of affection and real experience. We wanted to show that, even though we have physical limitations, we continue to fight every day. We are athletes of the everyday," says Raquel.
In parallel, they participate in medical conferences, rare disease congresses and international forums. Raquel, for example, will represent Spanish patients at the European Parliament on June 12, where the rights of people with neuromuscular diseases will be debated.
Diagnostic delay and bureaucracy
One of the biggest challenges is diagnosis. Many people, especially young women, are diagnosed late because their symptoms are attributed to psychological causes. "They tell you it's anxiety, depression, they send you medication that even worsens the disease. We have had patients with double vision who have been prescribed anxiolytics," he denounces.
In addition, care varies between autonomous communities. "The healthcare system is decentralized. That's why at AMES we have delegates for regions, expert patients who know the local circuit and can help better than anyone else."
Another major obstacle is the disability scale. "Fatigue is not adequately addressed, and because it is an invisible disease, the minimum 33% disability threshold for accessing certain rights is often not recognized," he explains. AMES is active in health policy, contributing proposals to the Spanish Medicines Agency and participating in working groups on rare diseases.
What is to come
AMES not only attends to emergencies. It also looks to the future. It participates in the national registry of myasthenia gravis, coordinated by Ciberer and Genrare, together with leading neurologists. This will make it possible to know how many patients there actually are in Spain-the official figures, from 2018, are still frozen at around 15,000 people, according to the Spanish Society of Neurology (SEN) although it is estimated that there are more.
The association is also part of networks such as the European MG Association, EuMGA, and works on international projects on gender, quality of care and access to state-of-the-art treatments.
"Our goal is clear: that every patient with myasthenia gravis and congenital myasthenia gravis is accompanied, informed and made visible. And that the healthcare system is prepared to respond with empathy and efficiency," concludes Raquel.
In a world where many diseases have no face, Raquel has decided to put her own. And her voice, her experience, her drive, have turned AMES into much more than an association: a vital network of resistance and hope.
