When I was a child, my father, who was a clinician, would take me to his clinic to peer into his fluorescent microscope in the middle of the night, when the streetlights were turned off so that the lasers would work best. Those moments revealed the hidden world of the cell and instilled in me a deep passion for understanding life; and death. My mother died of colorectal cancer when I was 11 years old, and this early passion turned into a quest to understand and conquer disease. My path was forged equally by a desire to comprehend the world and to contribute to easing the suffering of others through science and medicine. My professional trajectory was therefore mapped early, and coming to the United States to study molecular biology and genetics became my main goal during those initial years. I was very fortunate to study with world-class scientists who taught me the art and science of asking important questions, and the technical skills to be able to address them in the lab. My first focus of study became the study of embryonic development of the nervous system, an area that at the time was seemingly disconnected from the biology of adult-onset diseases. This period pointed me in a direction to understand how cellular signaling processes affected entire organ systems, and in the future, connected development with disease.
I believe there are different ways of doing science, and that the questions we follow are shaped by serendipity, by mentors, and by one’s personality. I did not choose to study Huntington’s disease. I came to it from a desire to work in an environment where the goal went beyond a pure pursuit of knowledge, a pursuit that often made me feel inadequate, and instead focused also on finding ways to treat disease. Applied science with the goal of developing therapies to help people suited me better, even though at the time, leaving academic research was considered an erroneous decision for someone ‘with potential.’ Like in any creative profession, one of the biggest obstacles to finding fulfillment in the sciences is learning how to deal with the internal pressures that arise when being judged by your peers about the quality of one’s work. If one is not careful, the motivation to understand a given problem turns to a desire to gain external validation of one’s work – and one’s sense of worth. This is a real problem, and one that I faced throughout my career.
Then, I came face to face with Huntington’s patients and their families.
Being in the presence of this disease and not having anything to offer them for their ailments as a scientist was one of the most humbling experiences in my life. My work no longer became separated from real people, instead it became part of a humanist approach to my life – the desire to help others that now had faces and lives that had become part of my life journey.
The humanitarian work of Factor-H (“H” for Huntington’s, Hope, and Humanity), an organization I founded in 2012 with Dr. Claudia Perandones, a clinical geneticist from Argentina, has helped me professionally and personally to find meaning in my work. The connection with afflicted individuals continues to be the driving force behind my scientific work. I believe that science cannot be fundamentally disconnected from the lives of those individuals it seeks to help.
In 2012 and then in 2013, I spent my vacations visiting the communities in South America with the highest concentration of patients in the world, in Venezuela, Colombia, Peru, and Brazil. Particularly poignant was the time I spent visiting the communities in Zulia State, Venezuela, places where hundreds of families and more than 18,000 people from 10 generations participated in research studies for more than 20 years, an effort that led to the identification of the causative mutation in HD. Their contribution enabled many future research & therapeutic avenues, including targeting the expression of HTT, and the mechanisms underlying disease onset & progression, areas where I have focused my therapeutic efforts while working at CHDI Foundation. Some of the first clinical rating scales were developed and tested in Venezuela; and thousands of brain, semen, blood, and skin samples enabled a deeper understanding of HD biology. An entire generation of leaders in the Huntington’s disease research community was shaped through these early years of discovery.
Those contributions stood in stark contrast with the reality I witnessed there — a devastating combination of poverty with disease, of social and institutional neglect that made the disease so much more devastating – not only to the bodies of those affected, but to their entire families.
I found a distrustful community that had felt abandoned by science, despite the great work that Nancy Wexler and the Hereditary Disease Foundation had done for many years supporting these families, but that ended soon after I got there. An overwhelming message I heard was – “Please come tell us how our contributions have helped.”
I realized then that as a scientist I had seldom thought that behind every sample we study there is a person with a life that has intrinsic meaning. It instilled in me a sense of responsibility that our collective work must make it back to the thousands of people who regularly volunteer their time, or the remains of their loved ones, for research. It taught me the importance of direct communication with individuals who contribute to our understanding of a given disease.
The impact of Huntington’s disease, due to its genetic nature, extends to multiple generations that grow in fear – fear of developing the disease, and fear of not being loved or accepted in their communities. I realized then that my approach should take two parallel and interconnected paths – the path of science and medicine as the ultimate solution to the disease, and the path of humanism to bring improved living conditions, dignity, and hope to families, today. Even the topic of dying with dignity became a central focus of our work, having encountered people left abandoned to die, deprived of food and water, and with no social contact. Not focusing on the social impact of this disease meant ignoring a critical factor in people’s quality of life, brought upon the inheritance of this disease across generations.
I also realized that by being a foreign HD scientist, many doors would be open to me that were normally shut for local individuals, and I used my credentials to bring others along in the quest to aid individuals living in conditions of vulnerability by working closely with the communities and local organizations and institutions.
Born as a project to provide basic assistance to HD families, we reframed the direction of Factor-H to create the necessary conditions that build empowered, cared for, and self-sufficient families affected by HD through alliances with their communities, local and international partners and organization, and prioritized improving access to medical care, to education, and to give the tools for individuals to pursue their lives with dignity and optimism in the future. Through this framework, almost any professional could help our mission – artists, educators, social workers, clinicians, scientists, psychologists. Working within such a framework opened a world of opportunities to help. By focusing on our common humanity, we could collectively chart a path towards a better future.
We must realize that our scientific and medical training has afforded us many tools that can be applied to any problem in life. This is the message I wanted to share with all of you working with MDS, and for young scientists and health professionals reading these words, so that you can take steps towards connecting with the people affected with the diseases you seek to treat or understand. There is nothing unique about me as a scientist or as a person – the main difference is that, probably out of naiveté, I followed the deep emotion I felt and made an initial decision to do ‘something, anything’ to help concrete, living people. In turn, this deep connection with individuals afflicted with movement disorders has enabled me to be a better scientist.
The first steps I took under the Factor-H umbrella were simple. I would visit patients in their homes. I sat with them, I held their hand and told them that I cared about their life. I saw children walking to school for an hour through the fields in Colombia with no shoes, and raised money to start a kids’ program, initially helping 10 kids, which has now grown to supporting more than 700 children at-risk for HD in Colombia and Venezuela.
While we have made substantial progress in providing access to medical support, and in helping communities cope with the disease, many significant barriers still exist. One of the most challenging aspects of our work is the lack of access to movement disorder specialists – neurologists, psychologists, nurses, rehabilitation specialists – who are willing to commit to work with these communities long-term.
The MDS is in an incredible position to improve the access to professional experts in movement disorders, as well as to ensure medications are guaranteed for people living in conditions of vulnerability, no matter where they live. I am certain that many families around the world experience similar conditions to the ones we face in the communities Factor-H serves. My vision includes a landscape where humanitarian non-profit organizations can work collaboratively with clinical organizations such as MDS to develop plans directed at training local professionals from rural and underserved areas, to incentivize specialists to dedicate their time to serve those most vulnerable, and to work closely with R&D organizations and generics manufacturing companies to ensure access to medicines that help manage movement disorders. These would lead to transformative changes that would benefit countless families worldwide and would contribute to improving the careers of young professionals whose lives, like mine, would be changed by these encounters.
We are close to an era where genetically directed and neuromodulation-based medicines will change the course of movement disorders in very significant ways. There is a real opportunity to work together to ensure equal access to these life-saving medicines, and that the progress we are making in medicine does not become limited to wealthy countries or families.
The Public Service Award is not only a recognition of my work, but also a recognition of these families’ suffering, and I dedicate it to them. I could not have matured Factor-H without many dedicated and selfless individuals who work tirelessly to help destitute families. A big thank you to Drs. Roger Cachope, Dr. Claudia Perandones, Dr. Sonia Moreno, Marina González de Kauffman, Dr. Elena Cattaneo, Jack Griffin, Nicanor Cardeñosa, Mati Gomis, Jimmy Pollard, Alex Fisher, Gindel Delgado, Vladimir Marcano, Manyee Lieu, Drs. Pedro Chaná, and Daniela Albuquerque, and to our teams and partners in Perú, Chile, Colombia, and Venezuela.