A Colombian Family Science Forgot
José Echeverría spends restless days in a metal chair reinforced with boards and padded with a piece of foam that his mother, Nohora Vásquez, adjusts constantly for his comfort. The chair is coming loose and will soon fall apart. Huntington’s disease, which causes José to move uncontrollably, has already left one bed frame destroyed. At 42, he is still strong.
José’s sister Nohora Esther Echeverría, 37, lives with her mother and brother. Just two years into her illness, her symptoms are milder than his.
Huntington’s is a rare hereditary neurodegenerative disease caused by excess repetitions of three building blocks of DNA — cytosine, adenine, and guanine — on a gene called huntingtin. The mutation results in a toxic version of a key brain protein. Early symptoms can include mood disturbances — Ms. Vásquez remembers how her late husband had chased the children out of their beds, forcing her to sleep with them in the woods — and subtle involuntary movements.
In the late 1980s a Colombian neurologist, Jorge Daza, began observing a striking number of cases in the region where Ms. Vásquez lives, near Barranquilla. It is now thought to house the second largest extended family with the illness. Its members hold clues to genetic modifiers of, and potential treatments for, Huntington’s. Yet since Dr. Daza’s untimely death in 2014, they have been cut off from experimental treatments, genetic counseling and often basic medical care.
They tend to come from the poorest segments of this coastal society: people who fish, clean beachside hotels or farm. Universities and health officials have shown up intermittently to take blood samples, but no definitive studies have been published. Few if any atrisk individuals know whether they are mutation carriers.
In recent years, sponsored by the Colombian government, a group of researchers at the Universidad Simón Bolívar, in Barranquilla, have taken on the task of rekindling studies that stalled after Dr. Daza’s death. Investigators conduct clinical evaluations and brain imaging in early symptomatic or pre-symptomatic people, as well as in noncarriers with family histories of Huntington’s. DNA has been collected from nearly 300 individuals.
The researchers have promised to share study findings with the family members, as well as results from clinical evaluations, although they cannot disclose genetic test results until counseling is established. They offer help securing medicines and conduct clinics.
In 2021, the team produced a primer on the disease and its history in the region, aimed at local health professionals who may know little about it. They hope that the university will soon take part in Enroll-HD, a global platform to study people with Huntington’s disease.
Julieta Echeverría, 23, raises two young boys in a rickety home. Last year, she and her husband, a fisherman, nursed her uncle Nelson Echeverría through the end stages of Huntington’s. Her parents, who are farmers, could not care for him because her father is also ill.
Nearby in Juan de Acosta, Mari Echeverría, 22, recounted an almost parallel existence to that of Julieta, her first cousin. (The two are also first cousins of José and Nohora Esther.) Last year, Mari was taking care of her mother, who died a month after Nelson, while also caring for a baby and a toddler.
Unlike their older relatives, who recall a time when the disease was hidden, Julieta and Mari grew up aware that they each have a 50 percent likelihood of developing Huntington’s. Both opted to have children, with partners who understood that risk.
The CHDI Foundation in Princeton, New Jersey, runs Enroll-HD. “We have a really big scientific need to study people very early in the disease process,” said Dr. Cristina Sampaio, CHDI’s chief medical officer. “Latin America may provide a place where we can find more of them, and these are the people who have the best opportunity to benefit.”
The Simón Bolívar team is eager to take part in Enroll-HD, but for now, it plans to work only with people who live in or can get to Barranquilla.
Gepsy Ariza, 34, does not know how her family is related to others around the region. But she, too, recounts caring for an ailing mother. In the beach town where she lives, Ms. Ariza now helps look after her sister, Maripaz Ariza, who is 30 and has hands that twist, a wavering voice, and a stiff, awkward gait. Maripaz’s symptoms emerged seven years ago, when she was pregnant with her daughter. The family history of Huntington’s was never explored; she was diagnosed with psychosis.
When Maripaz first became sick, her uncle took her and her daughter into his home. He later died from Huntington’s, and now his widow looks after both.