A rare case in the Brazilian popular city of her cousin’s marriage

Before Silvana Santos arrived in the small town of Serena Doss Pintos for more than 20 years, the population had no idea why many local children lost the ability to walk.

The remote city in northeastern Brazil is home to less than 5,000 people, as it identified the biologist and genetic scientist Santos and naming an unknown condition previously: Spoan syndrome.

Due to a genetic mutation, the syndrome affects the nervous system, and the body gradually weakens. It appears only when the variable gene is inherited from both parents.

Santos research is the first time that the disease is described anywhere in the world. For this work and subsequent work, she won one of the 100 most 100 women in BBC in 2024.

Before Santos arrived, families had no explanation for the disease that affects their children. Today, residents speak confidently about Spoan and genetics.

“I have given us a diagnosis that we have never had ever. After research, help: people, financing, moving chairs,” says Marcinus, one of the patients.

Where Santos is located in Sao Paulo, the largest and richest city of Brazil, many of its neighbors were members of the same family, originally from its Seren. Many of them were cousins ​​in varying degrees, married to each other.

They told Santos that many people in their hometown were unable to walk, but no one knows the reason.

One of the daughters of the neighbors, Zirândia, suffered from Nahh’s condition: When she was a child, her eyes moved involuntarily and over time, she lost her strength on her outskirts and needed to use a wheelchair, and requires help even in the simplest tasks.

Santos investigation years and research team will lead to determining these symptoms of Spoan syndrome.

They continued to find 82 other cases around the world.

Upon calling her neighbors, Santos visited her on vacation. It describes its arrival as entering a “her own world” – not only because of the luxurious scene and mountainous scenery, but also because of what it seemed noticeable is a noticeable social coincidence.

Whenever she walked and spoke with the local population, the more she was surprised that she was in the common marriage among the cousins.

The geographical isolation of its circles and the little internal migration means that many residents are linked, which makes marriage among the cousins ​​more likely and more socially acceptable.

Throughout the world, marriages between relatives were estimated at about 10 % in early 2010. Modern data shows that the average varies greatly, from more than 50 % in countries like Pakistan, to 1-4 % in Brazil and less than 1 % in the United States and Russia. Experts say that most children born to cousins ​​are in good health.

But these marriages face a greater risk of a harmful genetic mutation that is transported through the family.

“If the couple is not linked, the chance of having a child suffering from a rare genetic disorder or obstructing about 2-3 %. For cousins, the risk rises to 5-6 % for every pregnancy,” the genetic scientist Lawzvan Costa of the University of Rio Grande in Brazil explains.

A 2010 study, led by Santos, showed that more than 30 % of husbands in her Serene were linked, and that a third of them had at least one child with a disability.

Santos began finding a diagnosis of people who will see her and began planning a detailed genetic study, which requires multiple trips and ultimately leads to her transfer to the region.

It led up to 2000 km to and to Sao Paulo several times in the early years of her research. DNA samples were collected from door to door, and she spoke with the local population on coffee and collected family stories, all while trying to determine the mutation that causes the disease.

What was supposed to be three months of field work turned into years of dedication.

All this led to the publication in 2005 to study the team, which revealed the presence of Saboa in the Brazilian remote areas.

The Santos team found that the mutation involves the loss of a small part of the chromosome, which increases the production of the gene from the main protein in the brain cells.

“They said that the matter came from Maximiano, who is women in our family,” Farmer Lolô, whose daughter Rejane had Spoan.

Lol, 83, married his cousin and did not leave her. Cattle and depends on the family to take care of the RJANE, which struggles with daily tasks.

But the genetic mutation behind Spoan is much greater than the ancient Maximiano legend: It is likely to have reached more than 500 years ago with the first European settlers in the northeast of Brazil.

“Sequence studies show a strong European origin in patients, support records of the Portuguese, Dutch, and Celeradic Jewish presence in the region,” Santos says.

The theory gained strength after finding two Spoan cases in Egypt, and more studies have shown that Egyptian cases also share European origin, noting a common origin in the Iberian Peninsula.

“It is possible that this is with the Sephardic Jews or suppliers who escape from the Inquisition,” Santos says. It believes that more cases may exist globally, especially in Portugal.

Although there was little progress towards treatment, tracking patients has brought some change. Rejane remembers how people are used to call them “Cripples”. Now, they were simply said to have Spon.

Not only did the wheelchairs bring independence, but also helped prevent distortions – in the past, many of this situation were left simply lying in bed or on the ground.

As Spoan progress, physical restrictions are exacerbated with age at 50 years, almost all patients are completely dependent on caregivers.

This is the case for Eins, who are among the oldest in its Seren. Chiquinho, 59, can no longer speak, Markinus, 46, is no longer limited communication capabilities.

“It is difficult to have a” private “child. We love them with the same, but we are suffering for them.

Larissa Kerez, 25, married Chikinho’s daughter and Markinho, from a long nearby. She and her husband, Solo, discovered only their common ancestors after several months of dating.

“In Serrinha DOS PINTOS, deeply, we are all cousins. We are related to everyone.”

Couples like Larissa and Solo focus on a new research project in which Santos also participates. With the support of the Brazilian Ministry of Health, it will examine 5,000 couples for genes associated with serious recessive diseases.

Santos says the goal is not to stop his cousin marriages, but to help husbands understand their genetic dangers. She is now a university professor, who also leads a center of genetic education and works to expand tests in the northeast of Brazil.

Although she no longer lives in Serrinha DOS PINTOS, every visit feels like she returns home.

“It seems as if Santos is a family,” says Enez.