In oblivion is the community that helped understand Huntington's disease

A los 25 años de edad, Yoelvis Soto, habitante del barrio San Luis, en el municipio San Francisco de Maracaibo, comenzó a manifestar los síntomas de la enfermedad de Huntington, una condición hereditaria que comparte con muchos de sus vecinos en esa pequeña localidad del estado Zulia. Tenía formación como paramédico y trabajaba en las camaroneras que funcionan en la zona, actividades que en poco tiempo debería abandonar.

Today, at 32, involuntary and spasmodic movements that characterize the disease prevent them from working.From his passage through the work world he had no pension that can help him sustain his children 7 and 10 years.The smallest has begun to show symptoms of early development of the disease and walk, describe his relatives, at the tip of the feet.He many times is missing the school because his mother fears that he can fall and hurt.Not only because of the difficulties in maintaining balance, typical of the disease, but because other children harass and push it."Some days, he arrives at the house with scrapes," describes his aunt, Evelyn Soto.

Yoelvis mortifies precisely the rejection and contempt shown by others to whom they suffer from the disease for which his father died, at 50 years of age."In other municipalities and there is not much support here," he says.Stigma makes everyday life for the inhabitants of San Luis, an area punished by extreme poverty, due to the lack of access to drinking water and electricity, and where the public ambulatory that should serve the community remains closed fromAbout two years ago, when the Covid-19 pandemic began.

Although the health crisis is generalized throughout the Zulia state, in San Luis it becomes even more evident, precisely because of the high presence of Huntington's disease.Together with Barranquitas, another population of the western coast of Lake Maracaibo, has the greatest prevalence of this condition throughout the world: while, in general, it is reported that affects 2.7 people per 100,000 inhabitants, here it is estimated thatThere are 700 cases per 100,000 inhabitants.

Origin of Huntington

In addition to uncontrollable movements, Huntington's disease is accompanied by other problems, such as language and behavior disorders, including mood, depression and aggressiveness changes, in addition to headaches, insomnia and progressive cognitive deterioration.Origin is a genetic mutation that causes an anomaly in the production of a protein known as Huntingtina, which becomes in this case a toxic substance for neurons.

At the beginning of December, Norma Gotera, who had recently seen one of his three daughters die, Rudy Soto, 44, Huntington's patient, made efforts to get medical care for another of his daughters, Alexandra Soto, 46, 46,also diagnosed with the disease and affected by a fever and seizures picture.She with sacrifices she managed to gather 16 dollars that she needed to pay in a private laboratory the blood tests asked to determine what happened to Alexandra.To this she had to add the effort that meant transferring her daughter, very weak and almost prostrated, to the clinic, located to several streets of her house, to take the exam.

In the house that belongs to Nelly Guerra for 38 years, where a community center in Barrio Adentro works that she is responsible for coordinating, the situation is not encouraging either.She teaches the shelves where at once guarded medicines, completely empty."We have four years that do not send anything from the Ministry (of Health)."The aid she manages to distribute does not come from the State, but from national and international private foundations that send me food bags to distribute in the neighborhood, as well as some medications and other belongings, such as diapers, which quickly run out.

But if something speaks with eloquence of oblivion in which this community survives, it is a red brick building that is at the entrance of the neighborhood.A sign in which Casa Hogar Korea of Huntington "Love and Faith" is still erected on its facade.There, between the years 2000 and 2013, a care center for people with this condition.Some 65 patients could reside there when they worsened.Today, the doors of the center are closed and the place has been vandalized.

The memory of a contribution

Few remember the relationship of the community of San Luis, today sunk in abandonment, with a historical scientific advance.Thanks to the fact that its inhabitants agreed to have samples to participate in international scientific studies, it was possible to identify the gene linked to Huntington's disease, a milestone that was published in 1993 in Cell magazine.

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There is reference to the "Venezuelan Pedigrí", the family tree built with information of more than 18,000 people than the American researcher Nancy Wexler managed to assemble thanks to her constant visits, during the eighties and the nineties, to the areas affected byHuntington's disease in Maracaibo.

The root of this story can be traced a few decades before, when the Venezuelan doctor Américo Negrette, who was a professor of the Faculty of Medicine of the University of Zulia, described in a first publication of 1955 his observations on several tens of cases of what thenIt used to be badly called from San Vito.

The work of Negrette and his disciples was what made after a few years the international scientific community returned to the "Sanviteros", as they still identify with each other as the inhabitants of this small town of fishermen.

An article published in 2004 in Proceedings of the National Academy of Sciences of the United States, says that Wexler and its collaborators developed for their investigations “a protocol of neurological, cognitive and psychiatric evaluations to specifically satisfy the cultural and educational requirements of this community mainly withouteducation".That allowed them to feed, for 23 years, a database with the information of 2,547 people who were examined annually for these studies.

Only the elders seem to have a memory of the visits of those international research teams.Gotera Norma recalls that at that time they used to receive donations of clothing and medicines.The foundation of hereditary diseases to which Wexler belongs had a role in the opening and maintenance of the home love and faith.

A letter published by Wexler in The Lancet, in 2013, speaks of the financial difficulties to maintain the institution: to pay its director, the medical Margot of Young, two nurses and 30 employees needed $ 750,000 annually and in total they required one millionof annual dollars to continue working.In an interview with The New York Times in 2020, Wexler pointed out that the house had been closed by the decision of the Venezuelan government.

To the entities that could support Huntington, but are currently closed, the Institute of Genetic Research of the University of Zulia is added, affected by the acute lack of resources suffered by the University, says geneticist Lennie Pineda,retired researcher of that organization.

Pineda developed a review from the bioethical point of view of the studies carried out by international researchers among Huntington in Maracaibo, who questioned the way the samples were obtained, due, among other reasons, to the social vulnerability of the social vulnerability of thePopulation studied that, in the long run, did not have access to the results of genetic analysis.

He adds that the contribution of those who lent themselves to participate in the studies has not ceased, although the great promise of a cure has not yet been completed.“That genetic material has allowed the discovery of other genes.The samples of these people are stored in multiple laboratory repositories in the world. ”

Debt to remedy

For Marina González, from the NGO Habitat Luz, which has developed cooperation projects in the area, it is not enough to remember the debts that the international scientific community has with the community of San Luis, we must also highlight those that the State has with itVenezuelan.“We must not forget that this is a disease that attacks people in their productive ages, so their families are extremely vulnerable.Hence, you have to combat exclusion and give them tools that strengthen their education and economy. ”

The poverty in which the inhabitants of San Luis live becomes a factor that increases the earliest development risk of Huntington's disease, as described by the scientific research to which the same inhabitants of this area contributed.

Dozens of children, with family stories of Huntington do not have access to the genetic orientation they need or the conditions that could make a difference in their life.Jhonny and María Soto form one of those families who pray every day because the disease passes them long.His mother died for that cause and she, who comes from Barranquitas, says that one of her aunts suffered."But my mom thank God has not given that evil," she says.

The psychiatrist King Varela, who voluntarily visits the area every fifteen days, and who was linked to the community for their work with the NGO Paluz and Factor H, emphasizes that treatments must be individualized and not standardized.In each case, it should be evaluated if antidepressants, antipsychotics, or other drugs are needed, such as tetrabenazine, for the control of exaggerated movements.

The accompaniment of relatives is also essential: it is they who assume care work, including food, which must be prepared especially to avoid drowning when patients cannot swallow.However, the main concern remains poverty."If a person does not have to eat three times a day, he will not have to take medicine because the first thing he has to do is satisfy the need for hunger."

Por Marielba Núñez