23/04/2025
On the occasion of the World Day of Fibrodysplasia Ossificans Progressiva (FOP), a rare pathology that affects and even annuls the mobility of those who suffer from it, we talked to Patricia Marín, secretary of the Spanish Association of Fibrodysplasia Ossificans Progressiva(AEFOP), Sonia Las Heras, president of the Association and Alejandro, her son, a patient, along with Patricia, of this rare pathology.
In addition to his voice, there is the more clinical testimony of Javier Bachiller, a rheumatologist at the Ramón y Cajal Hospital in Madrid who specializes in this disease and, in turn, is a reference physician for Patricia and Alejandro.
What is FOP
According to data from Orphanet, fibrodysplasia is a very rare disease (also called rare or ultra-rare disease) which, worldwide, affects one person in two million. Specifically, in Spain it is estimated that there are only about 25 people suffering from this disease, so the clinical sample is very small.
Dr. Javier Bachiller, a rheumatologist specializing in FOP at the Ramón y Cajal University Hospital, describes the reality faced by patients. “FOP is caused by a spontaneous genetic mutation that leads to bone formation where it shouldn’t be, such as in muscles, ligaments, and tendons,” explains Bachiller. This process, known as heterotopic ossification, immobilizes the joints, leading to progressive and irreversible loss of mobility.
Alejandro’s story is a true feat in itself: he was diagnosed with FOP at one year old, although it took far too long to reach that diagnosis. His mother, Sonia, had already noticed something “strange” about the baby when he was only 9 months old. “Alejandro had a kind of bunion on his feet, which is very rare in babies.” Of course, after visiting several doctors, no one found anything. “We went to several hospitals; they told us many things, but none of them hit the nail on the head.” The fact is that those deformities in the toes are one of the first symptoms that can raise suspicion of this disease, along with swelling and tenderness in the shoulder and back area.
Today, in spite of all the difficulties, she is fulfilling her dream: to go to university and train in her passion: social work.
On the other hand, Patricia, who had been diagnosed several years earlier, in 1991, unfortunately also faced similar uncertainty during her diagnostic process. “Being diagnosed with the disease was both a mental and physical challenge at first,” she explains. At that time, FOP was little known, which made the search for answers even more difficult. “The lack of information and medical errors were much more common,” recalls Patricia, who still remembers being treated simultaneously at two hospitals in the Valencian Community in order to arrive at an accurate diagnosis.
Undoubtedly, according to Patricia, the lack of social awareness of the disease marked her first years as a newcomer to the disease.
Living with the disease
One of the most recurring challenges in conversations with Patricia and Alejandro is the constant struggle against architectural barriers. Patricia, who lives in a city with limited accessibility, explains: “In 1979, when I finished EGB, barriers were everywhere. Today, although there has been some progress, we still encounter difficulties accessing places.” Alejandro shares his experience at the university, where, after his mother Sonia’s tireless persistence, he is allowed to be accompanied by someone who helps him navigate the building.
However, and despite the fact that he is studying 'with very good grades' the occupational therapy degree, he continues to encounter many integration problems in his course, especially in the teaching, which is not as adapted as he would like. The teachers must provide Alejandro with a series of conditions in the classroom that, many times, have not been met.
That said, and even though both Sonia and Patricia acknowledge the progress made, they agree that society is still not prepared enough to take into account and meet the needs of people with limited mobility. “What may be simple for some is an ordeal for us, and not everyone is able to understand that,” Patricia emphasizes.
For example, something as simple and common as public transportation is another area where barriers are much more visible. Sonia recalls an experience in Madrid: “When I went to a doctor’s appointment in Madrid with Alex and arrived at Atocha Station, I was surprised by the lack of accessibility. They were doing construction work, and there was no way to get through. There was only one elevator at the train station, and since it was raining, it wasn’t even working.”
Another issue raised by both is access to adapted wheelchairs, an indispensable tool for patients with fibrodysplasia, given that their mobility is, in almost all cases, nonexistent. Once again, when discussing rare diseases, reference is made to the inexplicable differences between autonomous communities within Spain itself. For example, Patricia mentions her own experience: “In Valencia, wheelchairs are covered by insurance, but in other regions, such as Asturias, there are people in the Association who have to pay for them out of their own pockets. It’s an additional burden on top of the many already caused by the condition itself,” explains Patricia. “I went to an orthopedic store that tried to sell me an aluminum wheelchair for 400 euros more than it actually cost, even though my doctor had already prescribed it for me,” says Alejandro’s mother, Sonia, with frustration, referring to the situation in Andalusia.
Both agree that the lack of a unified and accessible system for obtaining adapted equipment represents an additional obstacle for those who struggle with this disease. Moreover, it adds to the expenses derived from the pathology, such as accompaniment and assistance, other specialties, specialized material....
Moving towards awareness
There is currently no treatment that cures the disease, but Dr. Bachiller notes that very promising clinical trials are underway with new drugs that could slow its progression. These treatments are primarily administered to young patients like Alejandro, in the early stages of the disease, but results are still slow to materialize and the trials remain in experimental phases. “Life expectancy for patients with FOP has improved thanks to earlier diagnoses and more effective treatments,” adds Bachiller.
Like the vast majority of rare diseases, the approach to this condition must necessarily be multidisciplinary because—although at different stages of the disease—it involves dentists, physical therapists, anesthesiologists, and other specialists. “Ossification affects various organs and systems in the body, which requires coordinated care among various professionals,” explains Bachiller. However, despite advances, legislation regarding this disease remains insufficient. “FOP is not included in the regulations governing rare diseases such as ALS, although we are working to include it and offer more support to patients,” says the rheumatologist.
And just in this same line, also comes into play the role of the Association, created more than 15 years ago by a group of patients and families who, knowing the difficulties involved in the disease, believed it necessary to focus attention on the knowledge of Fibrodysplasia Ossificans Progressiva (FOP) and thus stimulate research, outreach and support for patients and their families.
Therefore, through the Association, in addition to disseminating and raising awareness about what it means to live with this pathology, a support network has been created for patients in order to be a reference site to turn to when there is a diagnosis that, as usual in this type of rare diseases, involves a total and absolute uncertainty. On their website, and its creation in 2008, they share all kinds of links of interest, both at a medical and social level (such as, for example, governmental aid or medical guides).
Patricia, Sonia, and Alejandro all agree on the importance of raising awareness about the daily struggles of those living with Progressive Osifying Fibrodysplasia. “It’s crucial to talk more about our reality. What seems simple to many is a constant battle for us,” concludes Patricia. They all emphasize that, in addition to medical advances, a shift in social awareness and greater empathy toward people with disabilities is needed. “Society must understand our needs,” they conclude.