16/05/2025

World Neurofibromatosis Day, a rare disease that affects the nervous system, is celebrated every May 15.

On the occasion of this anniversary, we spoke with Aitana Aguilera, psychologist of the Association of Neurofibromatosis Sufferers, specialized in the treatment of this type of pathology in children. From her hand, we learn how young people coexist with this disease that, in addition to having physical effects, has a great impact on an emotional level.

What is neurofibromatosis?

Neurofibromatosis is a rare genetic disease affecting the nervous system. There are different types, the most common being neurofibromatosis type 1 (NF1). This pathology is characterized by the appearance of tumors (usually benign) in the nerves throughout the body. These tumors can affect motor, cognitive and sensory functions, as well as causing chronic pain, learning difficulties, vision or hearing problems, and visible aesthetic alterations in some cases.

Aitana has been working for almost 2 years in the Association of Neurofibromatosis Sufferers, helping young people to face, not only the diagnosis, but also the approach of a whole life with this pathology.

The curious thing about this disease," explains Aitana, a psychologist specializing in adolescents with NF, "is that it is often not noticeable to the naked eye. Some patients have skin tumors that look like small bumps, but many look like completely healthy people. And that, which may seem to be an advantage, is also the great handicap they carry with them all their lives," she concludes.

It is not seen, but it is suffered. And that means that it is often minimized, judged, or directly ignored.

Diagnosis

The disease can be detected very early - "at one month of age if the so-called café-au-lait spots are observed on the body" - or go unnoticed for years. "We have patients who were diagnosed at the age of 40, after a long pilgrimage to the doctor's office," says Aitana. It is most common for the diagnosis to be made in childhood, but each case is different, as they always say.

And while the diagnosis does not come, the anguish of the families grows. "There are mothers who do not give up. They insist, they notice it. Who say: 'there is something wrong with my child, tell me what it is'. Without them, many of these diagnoses would not exist," she reflects.

Once diagnosed, according to all psychologists, the school environment should be a supportive place. But often it is just the opposite. "The school can be a trench for our patients," says Aitana crudely. "If a teacher insists that the child write well when his fine motor skills are affected, or if in physical education they continue to choose captains and have them take turns picking their classmates, you know who is going to come in last. Always the same one. The little one who doesn't have the same endurance or physical capacity".

And she adds: "There are girls who are left alone in the library while the rest go on field trips. I've seen disconsolate cries about this when they tell me about it in consultation. And the worst thing is that it could easily be avoided".

The solutions, he says, are not complex. "Sometimes it would be enough to give them headphones for exams if the noise bothers them, or to allow them to use a computer because their handwriting is illegible. These are minimal adjustments that radically change their school experience." He adds, "I have patients who, with special glasses or a slightly more flexible environment, have gone from hopelessness to participating in science fairs. It's not magic. It's common sense, empathy and training."

"There are mothers who don't give up. They insist, they notice. They say: 'there's something wrong with my child, tell me what it is'. Without them, many of these diagnoses would not exist."

Symptomatology

"They don't choose to have this disease," Aitana repeats, "and on top of carrying it, they are often punished socially." Children with NF (neurofibromatosis) often experience slower maturation, which makes them feel out of place in some settings, especially at puberty ages in high school. "At 16, many are still not interested in what is socially expected: going out, drinking, flirting... and that makes the environment perceive them as 'weird'. But they are simply a step behind. They will get there, but at their own pace. And that should never, ever be a bad thing.

The problem, he insists, is not in what they cannot do, but in what they are not allowed to try. "I have had patients who were directly not allowed to enroll in baccalaureate because it cost them too much fourth year of ESO and, automatically, the center closed the door on them."

In the face of these obstacles, the boys and girls themselves develop a hard wisdom, learned the hard way. "They know perfectly well what they can do and what they can't do. They tell me: 'Aitana, I know that if I go to the festival my head will hurt. But it's worth it. They assume it. But what they don't tolerate is that someone from the outside tells them: 'You can't do it.

Families: great caregivers

Family accompaniment is constant... and exhausting. "I have mothers who tell me: 'I have to go pick up my daughter from school just to see her face and find out if something has been done to her today'". These are families who live on constant alert. "Because when a child with NF says 'my head hurts,' it's not just another phrase. It can mean a tumor. And that sets off all the alarms."

"They are families that are no longer just parents. They are nurses, psychologists, educators, lawyers... and they do everything for their children. But many times, completely alone," explains Aitana. "The level of mental and emotional burden is enormous. And even so, they still find the strength to go to school, talk to tutors, explain the disease... every week, once again".

When asked "What can be done as a society?", Aitana's answer is clear: raise awareness. "The problem is not that these children cannot. It's that they don't let them," Aitana insists. That is why it is essential that society stops looking the other way. Teachers, guidance counselors, classmates, politicians and ordinary citizens must be aware of this reality. That it is normalized. That it is talked about. Let it be heard.

We have to take the disease out into the street," says Aitana, "just as we take the dog out into the street. Let it be in the street, let it be seen, let people talk about it. Let it stop being something strange. It should not be said: 'in my class there is a child with a rare disease,' but simply: 'in my class there is Salva, period.

And it launches a simple but powerful idea: the shadow companion. A resource that is used in other countries, such as the United States, where an attentive and empathetic companion accompanies the vulnerable student. "It doesn't cost money, you don't need to hire anyone. You just sit next to someone who will let the teacher know if he or she sees something. It can change a child's day. And it makes the helper feel important and the other person feel supported and safe."

"We can't afford for the education system to push these kids out. We can't allow the university to be a wall. Let teachers doubt their ability because of irregular handwriting or a different pace," Aitana demands. "They don't need privileges, just fair conditions to show what they are worth."

"We, as an association, are super aware. The families, too. The children, of course. But we need the people across the street to know. The neighbor, the teacher, the school principal, the politician, the journalist. Because if not, our children will keep coming home with the same old question: 'Why is this happening to me?"