Life is random. Thanks to random errors in genetic information, mutations occur and, with them, evolution. But we don’t always mutate for the better. When Pablo Rodríguez Coca’s sister was formed, a very small fragment was lost from her chromosome 22. The importance of the error was capital.
At birth he was diagnosed with a genetic disease known as DiGeorge syndrome or chromosome 22q11.2 deletion syndrome, in reference to the region where the defect is located, “with everything that that implies,” says Rodríguez Coca. This rare condition usually means intellectual disability, heart and respiratory problems, delayed growth, nasal voice and a long list of complications.
“As a child growing up in that strange environment with doctors, operations and many therapies, I didn’t understand anything and no one explained much to me about what was happening,” he says. He is the older of the two, three years apart. The ray of light to illuminate the uncertain situation came from the hand of a patient association that had just started, the 22q11.2 Andalusia Syndrome Association.
Patient associations have been essential in providing support not only to the patients themselves, but also to family members like Pablo Rodríguez Coca and other loved ones who face a reality that is often unknown. The map is very extensive. According to the Somos Pacientes registry, an initiative of the Farmaindustria Foundation, in Spain there are almost 2,000 patient associations.
The spectrum of diseases they cover and the size of the organizations are also very heterogeneous. They can, like the Andalusia 22q11.2 Syndrome Association, associate a few dozen families for just a decade and address a rare genetic syndrome or come to represent one of the most iconic entities in the fight against the disease, like the Association Spanish Against Cancer (AECC).
“Our main objective is to cover the needs of people with cancer and their families that are not covered by the national health system. We want to be 112 for cancer,” says Isabel Orbe, general director of the AECC.
The AECC began its adventures in the 1950s with the aim of taking charge of the treatments of those people with cancer and few financial resources. Later, public health took on that role. However, many other needs revolve around a pathology. In parallel with a diagnosis, millions of doubts come. And Google is an ocean of data in which to drown easily. The AECC, the aforementioned Andalusian association or other organizations of this type function as a source to go to to resolve doubts.
The key here for Orbe is “not to generate false myths, to be very scientific and very rigorous in the information given about the diagnosis or treatments.” On the websites of these organizations you can find informative documents or there are telephone numbers where you can get free advice on any issue, no matter how obvious it may seem. “The number of husbands who call because their wife has been diagnosed with cancer or people who ask how I explain to my children that my hair is going to fall out,” says the general director.
But knowing is not just receiving information. For Rodríguez Coca, his relief was meeting other people with the same illness as his sister and, above all, with other brothers like him who were going through the same sea of ??doubts, frustration, incomprehension and pain. He explains that the association usually holds annual gatherings where members from all over Andalusia meet.
“In the morning we have talks from professionals where they inform us and train us about the syndrome and in the afternoon the time is spent more getting to know each other among the families.” He has also been involved in the organization of these events, which are complemented with inclusive camps where boys and girls with the mutation have fun for a few days in nature.
The list of activities does not end here. The 22q11.2 Andalusia Syndrome Association has organized art workshops, concerts, raffles and other solidarity activities, attended to the media or participated in dissemination days. All of this with the aim of raising awareness in society, helping with inclusion or raising funds to meet the needs of children with DiGeorge syndrome.
Associations even act as a fundamental pillar in the treatment of people. This depends on the muscle they have. The AECC, with more than 600,000 members and present in more than 2,000 locations in our country, reaches where public attention may fall short. Career guidance, oncological physiotherapy or nutritional counseling are included among the services provided. And also the very expensive and essential mental health care.
“Our star product is psycho-oncological care for patients and families. In the clinical recovery process, 30% of people need specialized psychological care. Everything is free through the 1,100 professionals who work in the association,” explains Isabel Orbe.
But sometimes all that help does not exist and it has to be created. Susana Cabañero, 49, started a decade ago with a lot of congestion, chronic sinusitis and headaches. “The ENT doctor saw that she had nasal polyps. They were growing. They treated me with antibiotics and strong doses of corticosteroids, but they didn’t go away,” she explains. They have had to operate on her twice to empty her nasal cavities of these whitish formations that did not stop reproducing.
The doctor ended up diagnosing him with chronic rhinosinusitis with nasal polyposis. It is a type II inflammatory disease, that is, pathological inflammation takes center stage. “The most common symptom is loss of smell. There are people who live like this for a long time and do not know that they have polyposis,” says Cabañero. His pathology also began to present with severe asthma, which is in turn a type II inflammatory disease, recurrent infections in the lungs and allergy to non-steroidal anti-inflammatory drugs, to which ibuprofen belongs. The set is called the ASA triad or Widal syndrome.
“As there was no Spanish association for nasal polyposis, we have created one and we are trying to make the disease known and for patients to have a place where they can have information and be able to share it with other people in the same situation,” he explains, referring to the Spanish Association for Patients with Nasal Polyposis (AEPONA).
Cabañero says that the initiative began mainly with the association’s president and also a polyposis patient, Vanessa Limonge, and her otorhinolaryngologist, Dr. Isam Alobid. In 2021, the Spanish Society of Otorhinolaryngology and Head and Neck Surgery organized the 1st Virtual meeting of patients with Nasal Polyposis where this idea was formally raised. “They called patients for an informational meeting about polyposis with the intention of learning about the disease. My doctor told me if he wanted to attend. Patients also spoke about their experience,” recalls Cabañero.
Currently, AEPONA has only 10 people on the board of directors “because we have just been established as an association. We are going to start making partners now,” says Susana Cabañero, who is a member and in charge of communication.
“We have gotten together people who are going through the same thing and each one tells their tricks. Sharing what you live every day, and what you think you are alone in, helps you a lot,” says Cabañero. To this he adds that “patient associations are an interface and apply a lot of pressure. They help the authorities know where to look.”
And a very important place to look is towards the use of biological immunosuppressants as a treatment for nasal polyposis. These are proteins or antibodies specifically designed to interact with molecules involved in inflammation, such as cytokines. Cabañero has been taking these medications for three years and they have changed his life: both his asthma and polyps are controlled and he has only received corticosteroids in strong doses on one occasion, when before it was almost monthly. However, she received treatment for severe asthma and not for polyposis because they are not yet authorized in this case.
“Many people have to be operated on several times because the polyps reproduce, with what that means for the patient and health care costs. If they had biological immunosuppressants they would have a better quality of life and costs would be reduced. Therefore, it is important that the authorities raise awareness about the disease,” he explains.
