Lack of specific medication does not impede care

For thousands of Brazilian families living with rare and ultra-rare diseases, the diagnosis is not accompanied by a therapeutic option capable of curing or modifying the course of the disease. This reality, although little discussed outside the medical world, is part of the routine in highly complex hospitals and imposes profound challenges on patients, families and healthcare professionals.

According to geneticist Gustavo Marquezani Spolador, specialist in pediatric pain and palliative care and assistant physician at the Pain and Palliative Care Unit of the Child and Adolescent Institute of the USP Faculty of Medicine, the lack of treatment is more common than one might imagine. “Within the context of rare diseases, the vast majority do not have treatment that modifies the course of the disease and even less so when we talk about curative treatment”, he states.

According to the specialist, even with recent advances in gene therapies, this is still not an accessible reality for the majority of patients. “Today we have some therapies with the aim of eventually curing or delaying the progression of diseases, but this is not the reality in most cases”, he explains.

EMPATHY - Given this scenario, communication with the family becomes one of the most delicate moments of care. Receiving the news that there is no approved medication is usually accompanied by fear, frustration and insecurity. For Spolador, the role of the doctor therefore goes beyond technical explanation. According to the geneticist, the impact of the rare disease is not restricted to physical symptoms. It extends to everyday family life, finances and the emotional health of everyone involved. "We need to look at what that condition represents for the family. There is psychosocial impact, feelings of guilt, exhaustion, tiredness from treatment and, often, financial issues related to frequent visits to different professionals", he reports.

SYMPTOM RELIEF - This is where palliative care gains a central role, although it is still surrounded by stigmas. Unlike the idea of therapeutic abandonment, palliative care seeks to alleviate suffering and promote quality of life from the moment of diagnosis. “Even when there is no treatment that modifies the course of the disease, there is care that can alleviate symptoms or suffering of the child, the individual and the family”, highlights Spolador.

Hope, according to the doctor, does not disappear when there is no specific treatment available. It just needs to be redefined. "We never take away the family's hope, we change the focus. The focus of care becomes being together with the evolution of the disease, promoting the best for that patient at every moment", he states.

In some cases, therapies outside the formal indication or experimental treatments are considered, as long as there is a clear objective and well-defined ethical limits. “If we see that a certain therapy is bringing more harm than benefit to the patient, we need to take the view that perhaps that therapy should be withdrawn”, he ponders.

SPECIALIZED CARE - Another challenge faced by families is the fragmentation of the health network. Many patients need to travel long distances in search of specialized care, which disrupts family life. “Today we have patients who come from extremely distant places to undergo treatment in large centers and this completely destroys families from a social point of view”, he highlights.

For the specialist, investing in early diagnosis, expanding access to genetic tests and training professionals outside large centers are essential steps. Still, he recognizes that there will always be diseases without a specific therapeutic option. “While we invest in the development of treatments, it is fundamentalIt is important to include these patients early in palliative care, because one thing does not exclude the other”, he concludes.

When medication does not exist, care continues to exist. It changes form, focus and meaning, placing dignity, relief of suffering and continuous monitoring at the center of health care.

Palliative care: “the focus is not on death, it is on life”, says doctor

Receiving a difficult diagnosis for a child or for yourself can take the ground out of any family. In this moment of vulnerability, a term emerges that still carries many myths but which, in fact, represents a fundamental support to get through nebulous times: palliative care. Contrary to what common sense dictates, this medical modality is not a sign of giving up, nor an announcement of the end. On the contrary, it is a powerful tool to ensure that life is lived with dignity, comfort, and even joy.

According to doctor Silvia Maria de Macedo Barbosa, coordinator of the Pain and Palliative Care Unit at the Children's Institute of the USP Hospital das Clínicas, the main focus of this work is full existence. She explains that the central objective is to allow the individual to live as close to normal as possible, controlling physical, psychological, social and spiritual symptoms. "My focus is not death, it's life", says the pediatrician, reinforcing that the mission is to allow the child to play, go to school and develop.

MYTH - One of the biggest barriers to accessing palliative care is the idea that it should only be used when there is nothing else to do. Silvia demystifies this view by highlighting that this basic support can be provided at the time of diagnosis. “Palliative care is not included because there is nothing else to do,” she says, clarifying that the approach does not exclude curative treatment. “One thing does not exclude the other and extreme care with expertise only contributes to the patient’s journey”, he maintains.

Specialized care comes into play when symptoms are completely out of control or when there are family conflicts and the need for structured planning. Palliative expertise acts as a beacon, guiding families through rough seas. “I have patients who have been in palliative care for 18 years. They transition from pediatrics to the clinic, so the focus cannot just be on the end", highlights the doctor.

FAMILY - The work of palliative care is carried out by a multiple team, where doctors, nurses, psychologists, social workers and other professionals work in harmony. In this scenario, the family is not just an observer, but the center of the entire process. "Without the family, there is no possibility of developing our work, as the child is inserted in the family nucleus and the suffering is there", explains Silvia.

This attentive look extends to parents and caregivers, offering emotional support and even small gestures of affection. The idea is to transform the nightmare into a trajectory where there are dreams and moments of lightness. The team even takes care of the healthcare professionals themselves, creating a safety net that supports everyone involved. "We belong to everyone and everyone really loves us" points out the doctor.

EDUCATION - According to Dr. Sílvia, to overcome the fear of the word *palliative”, the recipe is knowledge. “When families understand that this service is aimed at comfort and quality of life, fear gives way to security”, he guarantees. The doctor highlights that the main message must be positive and clear for the whole of society. "Palliative care seeks, ultimately, to improve life and allow dreams to be lived, not just nightmares" defines the specialist.

Celebrating existence at every moment is the motto that drives the sector. Silvia believes thatand it is possible to carry joy and laugh together with children and their families, as palliative care ensures that the days are filled with dignity. "It is possible to dream and have hope, because life does not have to be just carrying the cross", concludes the specialist, in an invitation for the topic to be seen as an act of love and respect for life.