This interview was conducted by OBSERVA, a partner in the HEREDITARY consortium, as part of its efforts to promote citizen engagement and give visibility to the voices of people living with neurodegenerative diseases. In this first part of a three-part full interview, Dolores Ayala Velázquez shares her personal journey, reflecting on how her scientific background intersects with her experience as a patient and how she navigates the daily challenges of living with Progressive Bulbar Palsy (PBP).
Could you briefly tell us your personal story and how your experience as a patient and your scientific training coexist within it?
I am a person with extensive academic training and experience in teaching, research, and cultural outreach. I hold Bachelor’s, Master’s, and Doctoral degrees in Science, specializing in Physics, particularly Statistical Physics, Fluid Theory, and Auditory Acoustics. I have also completed several diplomas in Education, Teaching, Family, and Counseling for individuals from childhood to old age. I also hold a Bachelor’s degree in Religious Studies. I was a teacher for 50 years.
I have a beautiful family consisting of my husband, our two daughters and one son, and three grandchildren in their teens.
In 2021, the symptoms of dyslalia gradually appeared, making it increasingly difficult for me to express myself freely and fluently. As I spoke, my voice became hoarse, losing its tone, timbre, and volume, making it impossible for my listeners to understand me. Regarding food, I knew I couldn’t drink any cold liquids because I would choke, although I could still manage to drink hot tea or punch. Dry foods like rice and stringy foods like meat would get stuck in my throat; sometimes I could eat them, and other times I couldn’t.
In 2022, a speech therapist diagnosed me with dysphagia and dyslalia. This marked the beginning of the process to determine the diagnosis of my condition, which took nearly two years, that is Progressive Bulbar Palsy (PBP), thankfully not Bulbar ALS. However, I still fear that it could develop due to the uncertainty surrounding the understanding of these diseases.
The aspect of how my experience as a patient and my scientific training coexist is a very interesting question for me, because my first reaction upon receiving the news of ALS and that I had about three years to live, was to think that what I had done before was not useful to face this reality, therefore, I had wasted my life on things that did not serve me and I began to wonder what I could do to give meaning to my life in just three years.
It was a very painful experience. It took me several months to realize I was wrong and that everything I had learned and the effort it took to achieve it were valuable because they are part of who I am. So, I am not defenseless; rather, I possess extensive training in addressing, understanding, and resolving complex problems. So ALS is just one more complex problem, with initial conditions and treatment strategies yet to be defined, regardless of what the specialists say, who, from experience, I know aren’t always right. Instead of becoming more saddened or letting the weight of a neurodegenerative disease crush me, I decided to research everything known about it, to understand its effects on the body and learn how to manage it.
From your perspective, what does it mean to live with a neurodegenerative disease beyond the clinical aspect?
From my experience, living with a neurodegenerative disease like PBP means dealing with the daily challenges posed by my diet, speech, saliva management, facial expression, and posture, among others.
- Nutrition. While I was able to eat enough to nourish my body and allow it to perform its vital functions, and to have some energy to think, move, and maintain a degree of independence, my weight remained stable (for one year and eight months). As the situation worsened and I consumed what little I ate simply through the effort of eating, I began to lose weight rapidly (from 60 kg to 47 kg in seven months). I was so lacking in energy that I had poor balance, I felt dizzy when turning my head, and I looked listless, very tired, and vulnerable. The ultra-protein, ultra-calorie diet recommended by the nutritionist helped me begin to regain weight. Then I understood the function of the gastrostomy, which several specialists had tried to explain to me, but without telling me: “Your difficulties eating orally can put your life at risk.” Since June 2024 I have had a gastrostomy tube through which I receive the ultra-protein and ultra-calorie food that my body requires and I have regained my weight, in fact I now weigh 62 kg. Switching from oral feeding to tube feeding has important implications, because depending on the digestive process I can go from constipation to loose stools, also considering substitutes like fiber and laxatives, which must be adapted each day to the particular needs of my body and in these I am the only specialist, and it is not convenient for me to leave the responsibility in the hands of the gastroenterologist or the nutritionist, because unexpected and very uncomfortable accidents can happen to me.
- Speech and communication. To speak, I use my mouth, and it’s constantly filled with excessive saliva, which is sometimes more like mucus or phlegm because of how thick it gets. Besides its consistency, saliva plays a very important role in speech, particularly in where it concentrates. When it’s in the oral cavity, I can produce sounds with my chest and head, but the saliva makes them sound nasal and muffled, which makes them difficult to understand. If phlegm concentrates between the soft palate, pharynx, and tongue, producing sounds becomes more difficult. This is because, feeling a blockage in the throat that also affects the vocal cords, it is harder to produce sounds with the chest, and impossible to do so with the head due to the blockage caused by the thick membrane of phlegm, which seems to be boiling in a witch’s cauldron and makes me feel like I am suffocating because air cannot pass through either the airway or the mouth. It’s easy to imagine that under these conditions, the sounds I produce end up being the noises of a monster from beyond the grave, no matter how hard I try to articulate them correctly. Thus, the intelligibility of my speech is chaotic; at times it might be more or less understandable, but then it shifts to otherworldly, nonsensical sounds. There’s an additional, very serious problem: the psychological and emotional impact of hearing myself speak. Because while I’m talking to myself, my voice sounds clear and crisp as before, and I even forget how I’m speaking as I utter the words out loud. I admit that sometimes I feel like crying, and other times like despairing. Fortunately, I manage to control myself and find (or am asked to use) the whiteboard or the phone app to communicate my ideas.
- Saliva management. Besides the difficulties saliva creates when I speak, it’s difficult to control it with my lips. Previously, I couldn’t even close my lips, much less achieve the necessary lip seal to contain saliva and food; I was constantly drooling. Now it happens intermittently, when the amount of saliva is excessive and I can’t manage it in my mouth. But in both cases, I need to have a cloth handy to dry my mouth and remove the excess saliva. Experiencing this when I’m alone is desperate, distressing, uncomfortable, and annoying, and when I’m around others, it feels embarrassing and inappropriate. I imagine it must be disgusting or repulsive to them, which makes me feel even worse. In fact, I find it incredible that with all the medical resources available, no alternative ways have been found to control excessive saliva production, beyond botulinum toxin, which doesn’t work for some of us.
- Facial expression. I like to smile to show the joy I feel in life and knowing that I am loved in a special way by God. Between 2019 and 2020, I was still giving talks via webinars or Zoom. On one occasion, one of my daughters, who was watching me from her computer, sent me a message saying, “Mommy, please smile, you look sad and your cheeks are droopy like a Saint Bernard’s.” Initially, I didn’t understand what she meant, but I made an effort to smile more during the talk. Then it dawned on me that she was referring to our dogs, with their droopy cheeks and sad, drooling faces. After the conference, I decided to look in the mirror to confirm what my daughter had told me, and sure enough, even though I was “smiling,” all you could see was my expressionless, wooden face. This really affected me, and I worked hard to get my smile back, which I finally managed after a period of sustained effort and dedication.
- Posture. Believe it or not, while I was eating only through my mouth, I never felt like I couldn’t support my head with my neck. It wasn’t until shortly after they inserted the feeding tube that I started to feel my head getting heavy and tilting to one side, and now it happens more frequently, for example, after I take a bath. I have to be very careful to prevent it from tilting to one side.
Are you part of a patient association or community? Could you briefly describe it (size, location, main activities)?
No. In the process of identifying the diagnosis of my disease, I had the opportunity to attend the ALS Clinic at the Mayo Clinic in Florida and it made a very good impression on me. There, they told me about two organizations in Mexico City that we could contact to join a community with ALS patients. We got in touch with the Foundation that serves people with limited financial resources, and since it’s located on the opposite side of our city, we’ve focused on helping the families by giving them food baskets to celebrate Christmas. The second association required us to register beforehand, before establishing contact and communicating with its representatives. Given our circumstances, this didn’t seem appropriate, and we decided against following their procedures. This association has greater financial and educational resources and a website with useful information.
Truthfully, I fear contact because I have always been and am an empathetic person (I have the diagnosis of being highly sensitive), now that I feel vulnerable and can barely cope with my own problem, it seems to me that the suffering of others is extreme and I begin to devalue my situation and think “I should do this, I could do that, I need to overcome this other thing”, and it increases my tension and anguish.
What role do you think patient communities play in research and in the daily lives of those living with these diseases?
Nearly 40 years ago, my husband and I founded the non-profit organization Oirá y Hablará (Hear and Speak) to support parents and other family members of deaf children in helping them reach their full potential and integrate into society, without their disability being a limiting factor. This happened when we learned that our son had profound deafness with a speech threshold of 95 dB. As physicists, my husband and I could provide scientific, technical, and human support through our own experience as parents of a little boy of just three years old, who had to learn to communicate and develop his potential to survive in life. But the most important thing about Oirá y Hablará were the experiences that the parents, siblings, uncles, and grandparents shared with us about their interaction with their little ones with limited hearing, from funny anecdotes to very profound lessons, which made us reflect and encouraged us not to be defeated by difficult situations and to keep going, enthusiastically and joyfully taking advantage of the experiences that we received month after month at the association meeting.
Based on these experiences and my own current one, I believe these communities possess a legacy of knowledge about the impact of illness on each individual, because we know its effects are individual, different for each person, depending on their physical, psychological, cultural, and emotional state. Furthermore, the difficulties we face and the harm caused by the ego and superiority attitudes of some of the specialists who treat us – doctors, scientists, technicians, and therapists – and also by some caregivers, are not taken into account.
What the sick person needs is respect, closeness, and understanding. But it seems they forget that we are people with the same dignity as children of God as those who do not suffer from any of these illnesses. We need to be heard and have our voices heard, because what we have to say is very valuable, so valuable that no one else can express it as we can. Despite our difficulty in communicating it, we patients are the experts on what we feel physically, mentally, and emotionally each day, because it’s about our experiences, pains, and personal difficulties that we encounter moment after moment. If mice are closely observed when used as guinea pigs to test drugs or equipment, the least we can expect is that we, as human beings, are actively listened to and taken seriously, because we are the primary and genuine source of information for specialists.
In my opinion, specialists would greatly benefit from learning about the experiences and difficulties faced by people with ALS, for example, those who share their stories at meetings of associations for people with similar illnesses. This knowledge can help specialists reassess the situation of the person or people in their care and provide them with valuable insights and ingenious ideas on how to resolve unforeseen or difficult situations that others have already encountered. Furthermore, the staff of these institutions possess a wealth of knowledge and experience regarding the symptoms, attitudes, feelings, and specific situations of people with rare diseases, which can be extremely useful when developing research projects.
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