Interview with prof. Dolores Ayala Velázquez: communication challenges in neurodegenerative diseases

This latest edition of the full interview with Dolores Ayala, in which she previously discussed her personal experience of living with Progressive Bulbar Palsy (PBP), and how technology and care affect disease management, highlight the importance of patient voices in research, care and innovation. Conducted by OBSERVA under Citizen Participation activities in HEREDITARY project, Dolores shares her reflections on communication between patients, healthcare professionals and researchers, as well as the ethical challenges that should be addressed to ensure dignity, understanding and meaningful participation.

How do you rate the communication between healthcare professionals, researchers, and patients? What could be improved?

Generally, the hierarchy is top-down, with healthcare professionals at the top, followed by researchers, and in the worst cases, a dispute between the two for first place. Thirdly, there’s the disease, the treatment, the technique, and so on. And, sadly, the patient is relegated to last place, often objectified, so much so that they aren’t even allowed to express their opinion. In some hospitals, the “specialists” never address the patient, only the accompanying person, creating an experience of violence by rendering the suffering person invisible.

In your opinion, how are neurodegenerative diseases communicated to the public today, and what aspects are oversimplified or omitted?

Continuing with the issue of the hierarchical structure established by these systems, some neurologists, believing themselves to belong to a very high, privileged class, seem to disregard the patient’s capacity to understand the situation and instead deliver the diagnosis to their companion: “They have ALS, it’s a very serious disease. There’s nothing that can be done. They only have a few years to live.” Faced with such a statement, one wonders: What is ALS? What will happen to me? What can I expect? How will I be treated? What should I do to take care of myself? Who should I turn to? And so on. But they don’t even allow for these questions.

With a little more detail, the diagnosis could be given like this: “You have ALS, a degenerative motor neuron disease, which means that it will paralyze your body’s muscles. And you will need special care and attention throughout the process.” It would be ideal if everyone who has a degenerative disease could find specialists who see the patient as one of their own and who are empathetic, approachable, and compassionate. These specialists should ensure they offer the patient a sense of closeness and look them in the eye with tenderness before delivering the diagnosis, speaking slowly and gently, making sure that both the patient and their family understand every word spoken, and allowing them the opportunity to ask for clarification or ask their own questions until they grasp the magnitude of the disease and begin to see the path ahead.

It is important to reassure patients that they are not alone and that they will be helped to integrate into a team of professionals with different specialties, who will support and guide them through the various stages of the disease. Furthermore, it is essential to be prepared to answer the same questions as many times as necessary until the person with a neurodegenerative disease, their family, and caregivers have fully understood them and each person knows their role. This can be done with the collaboration of some members of the care and support team established to assist the person in question.

What do you consider to be the main ethical challenges in research on neurodegenerative diseases?

Here are the ones that come to mind:

• Ensure respect for the dignity, uniqueness, and identity of the person with a neurodegenerative disease.
• Treat them with humanity, dignity, and attentiveness (address the person directly and strive to understand them; speaking only with family members is insufficient). Never ignore the person or speak of them as if they weren’t present.
• Offer all relevant information in an understandable way.
• Give the person the opportunity to express their doubts, fears, and experiences, and value them.
• Request the person’s permission before giving explanations to residents, and never lose sight of the fact that the person must be at the center of attention, care, and research processes. Beyond research protocols and treatments, the quality of treatment and care that must be ensured for each person should never be overlooked.
• Do not place undue emphasis on the potential benefits of the protocols, but neither should you paint apocalyptic scenarios that kill hope and destroy the person’s mental strength.
• Assume the ethical duty to conduct continuous evaluations throughout the entire process and to report on them, the processes, the progress, and the results at all stages of the research protocols.
• Provide the person with psycho-emotional support before, during, and after the research process.
• Address their doubts, fears, and decisions, and consider the supporting evidence, respecting and prioritizing them, even if they decide not to continue participating in the research.
• Avoid any action or attitude that belittles or further harms the person with ED.
• Their rights to know the diagnosis and to make decisions about the treatments and interventions they will undergo must be respected.
• The way in which the diagnosis is communicated can influence the psychological and emotional state of the affected person and, therefore, how they face the future.
• It is recommended to refer to the disease by its name (e.g., Amyotrophic Lateral Sclerosis, Degenerative Disease X), explaining its degenerative nature.
• It is advisable to emphasize the positive aspects and the fact that no two people are affected in the same way with the same symptoms.
• When presenting therapeutic options, information should be clearly provided regarding their actual effectiveness, possible side effects, alternative therapies, and current research.
• Furthermore, the person with a neurodegenerative disease should be informed about the implications of the treatment, including whether its effectiveness has been demonstrated and its cost.
• The following objectives should be met when communicating the diagnosis:
• Do not deny the patient any information they request.
• Do not force information on them that they do not wish to hear.
• Consider the patient’s reactions to the information provided.
• Once the diagnosis has been communicated, it is recommended to seek a second opinion to confirm or rule it out.
• Doctors should refer the person with a neurodegenerative disease to the appropriate specialists for their diagnosed condition immediately. (It took me two years to find a specialist in neurodegenerative diseases (and therefore, in PBP), while for months I was seen in the next cubicle at the hospital by a specialist in muscular diseases.)
• Caution is needed when diagnosing “rare” diseases, and attention must be paid to recognizing potential limitations and diagnostic errors. I was originally told I had ALS, which seemed like a death sentence, but now the evidence points to PBP, which has a better life expectancy. The emotional impact can indeed accelerate a patient’s decline.

Looking to the future, what changes do you consider priorities —at a technological, ethical or social level— to improve the quality of life of patients?

In all three areas – ethical, technological, and social – it is fundamental to recognize and prioritize the person with a degenerative disease because, in addition to everything mentioned previously, they are essentially relational human beings. Which means that communication and interaction with others are as essential to their well-being as nourishment. They need to be able to see their neurologist and other specialists as allies: approachable, kind, and compassionate individuals who can support, care for, and explain everything about their condition. These specialists should use their empathy, kindness, and knowledge in a simple and humane way, fostering trust and the certainty that they are genuinely interested in the person, to allow for consultations, tests, and the application of technology to become moments of dialogue and closeness, like a family gathering. In this way, the person with a degenerative disease will feel accompanied and supported every step of the way throughout the course of their illness, without fear and with confidence in the entire team working with them. This helps the degenerative disease to take a back seat, and the person feels relaxed and more motivated to do their part without delay or excuses.

It is essential that healthcare institutions receive and welcome people with degenerative diseases with the utmost respect and instill in them the understanding that they are there to help them in every way possible so they can have the best quality of life. Furthermore, these institutions must commit to securing economic, educational, therapeutic, psychological, transportation, and social assistance support from civil authorities so that these individuals can live a dignified, peaceful, and well-supported life. A life that can truly be called high-quality.