José Echeverría spends restless days in a metal chair reinforced with planks and padded with a piece of foam that his mother, Nohora Vásquez, constantly adjusts for his comfort. The chair is coming loose and will soon fall apart. Huntington’s disease, which causes José to move uncontrollably, has already destroyed a bed frame. At 42, he is still going 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 disease is a rare inherited neurodegenerative disease caused by excessive repeats of three basic DNA components—cytosine, adenine, and guanine—in a gene called huntingtin. The mutation results in a toxic version of a key brain protein. Early symptoms can include mood swings — Vasquez recalls how her late husband had dragged the children out of their beds, forcing her to sleep with them in the woods — and subtle involuntary movements.
In the late 1980s, Jorge Daza, a Colombian neurologist, began observing a surprising number of cases in the region where Vásquez lives, near Barranquilla.. It is now believed to house the second largest extended family with evil. Its members have leads on genetic modifiers for, and possible treatments for, Huntington’s disease. Yet since Daza’s untimely death in 2014, they have received no experimental treatments, genetic counseling, and often basic medical care.
They tend to come from the poorer segments of this coastal society: people who fish, clean beachside hotels, or are farmers. Universities and health officials have turned up from time to time to take blood samples, but no definitive studies have been published. Few if any people at risk know if they carry the mutation.
In recent years, sponsored by the Colombian government, a group of researchers from the Simón Bolívar University in Barranquilla has undertaken the task of reviving the studies that were stagnant after Daza’s death. Investigators perform clinical evaluations and brain MRIs in presymptomatic or early symptomatic individuals, as well as in noncarriers with a family history of Huntington’s disease. DNA has been collected from almost 300 individuals.
The researchers promised to share the study findings with family members, as well as the results of clinical evaluations. They offer help getting medicine and run clinics.
In 2021, the team produced a manual on the disease and its history in the region. They hope the university will soon participate in Enroll-HD, a global platform for studying people with Huntington’s disease.
Julieta Echeverría, 23, raises two small children in a dilapidated house. Last year, she and her husband, a fisherman, cared for her uncle Nelson Echeverría through the final stages of Huntington’s disease.
Nearby, in Juan de Acosta, 22-year-old Mari Echeverría recounted a life almost parallel to that of Julieta, her first cousin. (The two are also first cousins of José and Nohora Esther). Last year, Mari was caring for her mother, who died a month after Nelson, while she also cared for a baby and a toddler. Unlike her older relatives, who remember a time when the disease was hidden, Juliet and Mari grew up aware that they each have a 50/50 chance of developing Huntington’s disease. Both chose to have children, with partners who understood that risk.
The CHDI Foundation, in Princeton, New Jersey, operates Enroll-HD. “We have a very great scientific need to study people in the early stages of the disease process.said Cristina Sampaio, CHDI’s medical director.
Simón Bolívar’s team is eager to participate in Enroll-HD, but for now they plan to work only with people who live in or can get to Barranquilla.
Gepsy Ariza, 34, doesn’t know how her family is related to others in the region. But she also tells of taking care of a sick mother. In the coastal town where she lives, Ariza now helps care for her sister, Maripaz Ariza, who is 30 with writhing hands, a shaky voice and a stiff, awkward gait.
JENNIE ERIN SMITH
THE NEW YORK TIMES
BBC-NEWS-SRC: http://www.nytsyn.com/subscribed/stories/6740825, IMPORTING DATE: 2023-06-01 18:20:09
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