In August 2025, an occupational therapist named Alex Fisher walked to the furthest edge of Barranquitas, Venezuela, past rutted tracks and reed-filled canals, through 102°F / 39°C heat, to assess a family living with Huntington’s disease (HD). At the end of that road, she met a 10-year-old girl named Jade.
Before the visit was over, Jade had learned to ride a bicycle. She had smiled, maybe for the first time in a long time. Alex gave her a small felt dog that she named Betsy, and promised to come back in December.
Before that promise could be kept, the day Alex flew home to the UK, Jade died, perhaps by her own hand.
This is the story we need to tell on Gratitude Day 2026. Not to dwell in grief, but because Jade’s story and the story of Barranquitas deserve to be told. It is, after all, the place that built our science – the science that has brought us to the edge of treatments today.
HD, Hidden in Venezuela
HD is a hereditary brain disease caused by an expansion in a single gene. It progressively destroys movement, thinking, and behavior over 10 to 25 years, and it is always fatal. Every person who inherits the genetic expansion will develop the disease if they live long enough. Even though scientists are getting closer, there is currently no cure or treatment to slow progression.
Finding that gene and understanding it well enough to one day treat HD has required something remarkable: one of the largest, most sustained research partnerships in the history of medicine, built on the generosity of families in Venezuela.
In the 1950s, Venezuelan physician Dr. Américo Negrette first recognized that something was devastating the communities around Lake Maracaibo in Venezuela, a condition locals called el mal, the “bad thing.” Families across multiple generations were losing control of their movements, their personalities, their minds. He documented what he saw, but for years the wider scientific world didn’t listen.
What the Venezuelan Families Gave to Science
That changed in 1979, when neuropsychologist Dr. Nancy Wexler led an exploratory mission to Lake Maracaibo to follow up on Negrette’s pioneering work. Her mother had died of HD and Wexler herself was at risk. She had every reason to seek answers. What she found in Venezuela exceeded anything she could have expected: the world’s largest known concentration of HD families, spanning multiple generations, sharing ancestry from a single common founder.
Over the next two decades, Wexler and a large international team of scientists and clinicians returned to Venezuela every year. The families said yes – again and again. They gave blood samples and skin samples, took cognitive tests and physical exams. They traced their lineages in extraordinary detail. Over 18,000 individuals across 10 generations were ultimately documented. More than 4,000 cell lines were created from these samples, and over 130 of those are still used in research laboratories around the world today.
Finding that gene and understanding it well enough to one day treat HD has required something remarkable: one of the largest, most sustained research partnerships in the history of medicine, built on the generosity of families in Venezuela.
That collaboration yielded two of the most important discoveries in HD history. In 1983, the team identified a genetic marker on chromosome 4 linked to HD. This was the first time any such marker had been found for a human neurological disease. Then, in 1993, on March 23rd, the date we now mark as Gratitude Day, the HD-causing gene itself was identified. This breakthrough made possible everything that followed.
But the Venezuelan families’ contributions didn’t stop there. As Alex Fisher writes in a new editorial in the Journal of Huntington’s Disease, these communities “helped build the momentum for the exploration of the human genome.” Some of the rating scales now standard in HD clinical trials, including the UHDRS, were first tested in the field in Venezuela. Some of the first evidence for genetic modifiers (factors that influence when HD symptoms begin) came from these people.
The researchers who traveled to Venezuela gave decades of their careers to these families. The team led by Wexler made that journey every year for over twenty years. Sustaining that level of involvement in a country facing economic and political collapse was not simple, and eventually the research excursions stopped. But the families remained.
What Life Looks Like Now
To understand what life with HD looks like in Barranquitas, you need to understand the place itself.
Barranquitas is a fishing village on the shores of Lake Maracaibo in the western Venezuelan state of Zulia. It doesn’t appear on most maps. It has no functioning state social care system, let alone genetic testing or specialty neurologists.
Venezuela’s broader humanitarian crisis means that food insecurity is severe, the healthcare system has largely collapsed, and access to clean water is unreliable. Many families eat once a day. It’s also a community where an estimated 10% of the population will develop HD and 30-40% of families have a history of HD. Children grow up as caregivers.
HD, which is brutal under any circumstances, is something else entirely here. In her editorial commentary, Alex Fisher describes finding a man lying on a bare concrete floor, in his own waste, abandoned; his daughter, his primary caregiver, had begun developing HD herself. She describes children aged 8 to 16 missing school to care for a parent, often not knowing why their parent is different, only knowing something is wrong. She describes unregistered births, children with no official identity, families who are invisible to any system of support.
It’s also a community where an estimated 10% of the population will develop HD and 30-40% of families have a history of HD.
A Lifeline, Through Factor-H
Factor-H, founded by neuroscientist Dr. Ignacio Muñoz-Sanjuán (aka Nacho) and operating in partnership with Habitat Luz in Barranquitas, is the only international nonprofit currently working with HD families in these communities.
Their Caregivers’ Programme, created by Alex, is a roving team of trained local caregivers who reach the most isolated and neglected HD patients by bicycle. The program won the 2024 Amgen Prize for Rare Diseases, awarded by MIT for innovative approaches to supporting rare disease families.
The Question We Have to Ask
Despite what feels like frustrating setbacks and barriers, the HD field has reached a genuinely hopeful moment. Several potential disease-modifying treatments are advancing through clinical development. But as those treatments inch toward reality, we have to ask: will they ever reach Barranquitas?
The honest answer is that they won’t without deliberate effort. Factor-H has already initiated conversations with pharmaceutical companies about access programs. As Nacho has said, “the number of families is not so large that it makes this an infeasible proposition.” But it will require will, advocacy, and the active involvement of the companies developing these therapies. The families who opened the door to the science of HD deserve to be among those to benefit from it. That is not a radical idea. It is the minimum owed.
Join Us on March 22nd
The families who opened the door to the science of HD deserve to be among those to benefit from it. That is not a radical idea. It is the minimum owed.
Gratitude Day is not just about the Venezuelan families, it’s a day for the entire HD community to recognize and celebrate the partnership between families, scientists, and healthcare professionals that has driven every advance we’ve made. From the researchers in the lab to the families in clinical trials, from the clinicians to the caregivers, we are all in this together.
This year, Factor-H will be livestreaming from Venezuela, giving everyone a chance to connect with the community at the heart of that partnership and see firsthand the work being done there.
Sunday, March 22, 2026 | 9:00 AM PST | 12:00 PM EST | 5:00 PM UK | 6:00 PM Europe
Register: us06web.zoom.us/meeting/register/_3zDACtIQfekFZblQC8PWA
Share your support on social media with #HDGratitudeDay, and make your H-Hands – the traditional heart-hands gesture with both index fingers extended upward to form an “H,” for Huntington’s, Humanity, and Hope. Donations to Factor-H can be made at www.factor-h.org. 100% of all donations go directly to communities in South America.
A Final Word
A month after Jade died, the Factor-H team held a memorial. They wore t-shirts printed with a photo of her smiling, holding Betsy. Her cousin has the little felt dog now.
There is a small girl at the end of a road in Barranquitas who will not see the treatments that her grandmother’s community tried to make possible. We cannot undo that, but Jade will never be forgotten. And we can work to ensure that for the families still living there this time goes differently.
From all of us at HDBuzz, this Gratitude Day we’re sending our deepest gratitude to every member of the HD community, and especially to the families in Venezuela, whose generosity built the science on which we all stand. See you on March 22nd.
Summary
- Gratitude Day (March 23rd) marks the anniversary of the 1993 discovery of the HD gene, made possible by families in Venezuela.
- Those same families live today in extreme poverty, with little access to healthcare, food, or support.
- A new paper in the Journal of Huntington’s Disease by occupational therapist and Factor-H associate Alex Fisher recounts the reality of life for HD families in Barranquitas and the story of a 10-year-old girl named Jade.
- Factor-H and Habitat Luz are the only international nonprofits working with HD families in these communities, running a Caregivers’ Programme that won the 2024 Amgen Prize for Rare Diseases.
- As HD treatments advance, we must ask: will the families who made them possible have access to them?
- Join the Factor-H Gratitude Day livestream from Venezuela on Sunday, March 22nd.