Palliative care in rare diseases: providing support beyond diagnosis

People living with a rare disease, along with their families and caregivers, face complex challenges throughout their lives. Many of these diseases are chronic, progressive, or disabling, making it essential to have care that addresses not only clinical aspects but also emotional, familial, social, and occupational well-being. In this regard, palliative care plays a key role in improving quality of life from the early stages of the disease.

What is actually palliative care?

When palliative care is mentioned, doubts and even fear often arise. Many people automatically associate it with the final stage of life, as if its application implied an imminent end. However, this perception does not reflect reality. According to the World Health Organization (WHO), palliative care aims to improve the quality of life of patients and families facing life-threatening illnesses by preventing and relieving suffering, comprehensively addressing physical, psychological, social, and spiritual aspects. In this sense, palliative care is not solely focused on the final phase, but rather constitutes an approach to care oriented toward accompanying people throughout their illness, especially when it has a significant impact on their well-being.

In the case of rare diseases, palliative care can and should be present from the moment of diagnosis, adapting to each stage and to the changing needs of the individual and their environment.

The reality of rare diseases: complexity and burden

People with rare diseases and their families face immense uncertainty: late diagnoses, lack of information, few specific treatments, and a heavy burden of care. In many cases, this is compounded by complex symptoms such as pain, fatigue, respiratory difficulties, mobility problems, or cognitive decline, as well as a profound emotional impact on both patients and caregivers.

In this context, palliative care not only alleviates physical symptoms but also provides support, emotional assistance, facilitates decision-making, and helps coordinate more humane and person-centered care.

Inequality in access and lack of adaptation

Despite its importance, access to palliative care for rare diseases remains limited and unequal. There are geographical disparities in access to specialized teams and a lack of care models adapted to the complexity and diversity of these conditions.

Furthermore, many palliative care services are designed with more prevalent diseases, such as cancer, in mind, which can overlook the specific needs of people with rare diseases, especially in the pediatric population or patients with long and fluctuating disease histories.

On the other hand, contrary to what most people might think, palliative care should not be provided only in the final stages of life; rather, managing symptoms in the early stages of the disease helps alleviate suffering from the outset.

In WHO's words: “Palliative care is most effective when considered early in the course of the illness. Early palliative care not only improves quality of life for patients but also reduces unnecessary hospitalizations and use of health-care services.”

Listening to those who live the experience: a pending task

One of the major challenges in managing palliative care for rare diseases is the lack of information based on the real-life experiences of patients and caregivers. Without firsthand knowledge of their needs, the barriers they encounter, and their expectations of healthcare and social services, it is extremely difficult to design truly effective policies, services, and care models.

Patient organizations play a fundamental role here: they are spaces for support, shared knowledge and defense of rights, but they can also be key agents in generating evidence that reflects the everyday reality of rare diseases.

Moving forward together towards more person-centered care

To address these needs, it is essential to combine voices, experiences, and efforts. Collaboration among patients, caregivers, organizations, healthcare professionals, and researchers allows us to build a more comprehensive and representative view of the state of palliative care for rare diseases.

Looking to the future: palliative care as a right and a necessity

Talking about palliative care for rare diseases means talking about dignity, support, and quality of life. It means recognizing that, even if a disease is uncommon, the needs of those who live with it are very real and deserve an appropriate response from the healthcare and social systems.

National health systems are responsible for including palliative care in the continuum of care for those suffering from these conditions. Moving towards more accessible, equitable, and adapted palliative care models for rare diseases is not only a healthcare challenge but also an ethical commitment. Listening to, understanding, and acting based on the experiences of patients and caregivers is an essential step towards achieving this.