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.
The medical vision of Dr. Javier Bachiller, a rheumatologist specializing in FOP at the Ramon y Cajal University Hospital, narrates the reality of the patients. "FOP is caused by a spontaneous genetic mutation that leads to the formation of bone where there shouldn't be any, such as in muscles, ligaments and tendons," explains Bachiller. This process, known as heterotopic ossification, immobilizes the joints, leading to a progressive and irreversible loss of mobility.
Alejandro's case itself is quite a feat: he was diagnosed with FOP at one year of age, although his diagnosis took too long to arrive. His mother, Sonia, already noticed something 'strange' about the baby when he was only 9 months old. "Alejandro had a kind of bunions 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 were right. And the fact is that these malformations in the toes is one of the first symptoms that can lead to suspect this disease, along with the swelling and tenderness of 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, diagnosed several years earlier, in 1991, unfortunately also faced similar uncertainty in her diagnostic process. "Being diagnosed with the disease was both mentally and physically challenging at first," she explains. At the time, FOP was little known, which made it even more difficult to find answers. "The lack of information and medical errors were much greater," recalls Patricia, who still remembers how she was treated simultaneously in two hospitals in the Valencian Community to obtain 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 difficulties in the conversation with Patricia and Alejandro is the constant struggle against architectural barriers. Patricia, who lives in a city with limited access, explains: "In 1979, when I finished EGB, barriers were everywhere. Today, although some progress has been made, we still find it difficult to access places". Alejandro tells his testimony at the university, where, after the tireless insistence of his mother, Sonia, he can be accompanied by someone to help him get around 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.
Despite the fact that both Sonia and Patricia acknowledge the progress made, they agree that society is still not sufficiently prepared to take into account and meet the needs of people with reduced mobility. "What for some may be something simple, for us is an odyssey and not everyone is able to understand it," Patricia emphasizes.
For example, something as simple and common as public transport is another area where barriers are much more visible. Sonia recalls an experience in Madrid: "When I went to a consultation in Madrid with Alex and arrived at Atocha station, I was surprised by the lack of accessibility. They were under construction, and there was no way to get through. At the train station there was only one elevator and, since it was raining, it didn't even work."
Another of the topics touched by both is the access to adapted wheelchairs, an indispensable tool for Fibrodysplasia patients, since their mobility is, in almost all cases, null. Once again, when talking about rare diseases, reference is made to the inexplicable differences between autonomous communities within the same Spanish territory. For example, Patricia mentions her own experience: "in Valencia, wheelchairs are financed, but in other communities, such as Asturias, there are people from the Association who have to pay for them out of their own pocket. It is an additional burden to the many that the pathology itself already entails," Patricia explains. "I came across an orthopedic company that tried to sell me an aluminum chair for 400 euros more than it really cost, despite the fact that it had already been prescribed by the doctor," says Alejandro's mother, Sonia, in frustration, in the case of 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 points out that very promising clinical trials are underway with new drugs that could slow its progression. These treatments are mainly administered to young patients like Alejandro, in the early years of the disease, but the results are still slow and the trials are still in experimental phases. "The life expectancy of FOP patients has improved thanks to earlier diagnosis and more effective treatments," adds Bachiller.
Like the vast majority of rare pathologies, the approach to this disease must necessarily be multidisciplinary because, although at different stages of the disease, it involves dentists, physiotherapists, anesthesiologists and other specialists. "Ossification affects several organs and body systems, which requires coordinated care among several professionals," explains Bachiller. However, despite advances, legislation on this disease is still insufficient. "FOP is not contemplated in the regulations for rare diseases such as ALS, although we are working to include it and offer more support to patients," comments 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 agree on the importance of making visible the daily struggle of those who suffer from Fibrodysplasia Ossificans Progressiva. "It is crucial to talk more about our reality. What seems simple to many, for us is a constant battle," Patricia concludes. Both emphasize that, in addition to medical advances, a change in social awareness and greater empathy towards people with disabilities is necessary. "Society must understand our needs," they conclude.
