A rare condition in the city of Brazil popular for cousin marriage

Before Silvana Santos arrived in the small town of Serina Dos Pintos more than 20 years ago, residents had no idea why so many local children had lost the ability to walk.

The remote town in northeastern Brazil is home to less than 5,000 people and is where biologist and genetic Santos identify and have called an unknown condition: Spoyon Syndrome.

Caused by a genetic mutation, the syndrome affects the nervous system, gradually weakening the body. It only appears when the changed gene is inherited by both parents.

Santos’ studies have noted the first time the disease has been described everywhere in the world. For this and later work, it was declared one of the 100 most influential women of BBC in 2024.

Before Santos arrived, the families had no explanation for the disease affecting their children. Today, residents talk confidently about Spoan and Genetics.

“She made us a diagnosis that we never had. After the study came help: people, funding, wheelchairs,” says Markinos, one of the patients.

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

They told Santos that many people in their hometown cannot walk, but no one knows why.

One of the daughters of the neighbors, Zirlia, suffers from a disabled state: as a child, her eyes moved involuntarily and over time, she lost strength in her limbs and had to use a wheelchair, requiring help with even the simplest tasks.

The years of investigation would lead Santos and a research team to identify them as symptoms of spoon syndrome.

They will continue to find 82 other cases around the world.

At the invitation of his neighbors, Santos visited Serena on vacation. She describes her arrival as a step in “her own world” – not only because of the lush nature and views of the mountain, but also because of what seemed to be a remarkable social coincidence.

The more she walked and talked to the locals, the more surprised she was in how common marriages between cousins.

The geographical isolation of Serinha and a little internal migration means that many of the population are connected, which marries between cousins ​​far more likely and socially acceptable.

Globally, marriages between relatives were estimated at about 10% in early 2010. Newer data shows that the percentage varies significantly, from over 50% in countries such as Pakistan, to 1-4% in Brazil and less than 1% in the US and Russia. Most children born of cousin pairs are healthy, experts say.

But these marriages face a higher risk of a harmful genetic mutation transmitted through the family.

“If the couple is not associated, the chance of having a child with rare genetic disorder or disability is about 2-3%. For cousins, the risk increases to 5-6% per pregnancy,” explains geneticist Lusivan Costa Reis of the Federal University of Brazil in Rio Grande to Sul.

A 2010 study, led by Santos, showed that more than 30% of couples in Serina were linked, and one -third of them had at least one disabled child.

Santos set about finding a diagnosis for Serina people and she began planning a detailed genetic study, requiring multiple trips and ultimately leading to her relocation to the region.

She drove 2,000 km to and from Sao Paulo many times in the early years of her research. She collected DNA from door to door, talking to locals over coffee and collecting family stories, trying to find the disease that causes the disease all the time.

What was supposed to be three months on field work has become years of dedication.

All this led to the publication in 2005 of a team study revealing Spoan’s existence in Brazilian Hinterland.

The Santos team found that the mutation involved the loss of a small fragment of the chromosome, which causes a gene to overcome a key protein in brain cells.

“They said it came from Maximiano, a womanizer in our family,” recalls farmer Lolo, whose daughter Rayon has spong.

Lolo, who is already 83, marries her cousin and never leaves Serina. He is still inclined and he relies on the family to take care of Rejane, who is fighting daily tasks.

But the genetic mutation behind Spoan is far older than the Old Maximiano legend: it may have arrived more than 500 years ago with early European settlers in the northeastern part of Brazil.

“Consistent studies have shown strong European descent in patients supporting records of Portuguese, Dutch and Sephard Jewish presence in the region,” Santos says.

The theory has gained strength after two cases of spoy in Egypt and additional studies show that Egyptian cases also share European ancestral, pointing to common origin in the Iberian Peninsula.

“He may have come with connected Sephardic Jews or Mavri running from the Inquisition,” Santos says. She believes that more cases may exist worldwide, especially in Portugal.

Although there was little progress to treatment, patients followed in some change. Rejane recalls how people were called “mutilation”. Now they just say they have Spoan.

Not only did the wheelchairs bring independence, but also helped prevent deformation – in the past many with the condition were left simply lying in bed or on the floor.

As spayan progresses, physical restrictions worsen with age and with 50, almost all patients become completely dependent on the care.

This is the case with Ines’s children who are among the oldest in Serina. The 59 -year -old Chiquinho can no longer speak, and the 46 -year -old Marquinhos has limited communication capabilities.

“It’s hard to have a” special “child. We love them the same, but we suffer from them,” says Ines, who is married to a second cousin.

25 -year -old Larissa Quiroz, Chikinho’s niece and Marcinho, also married a distant relative. She and her husband Saul have discovered their common ancestor after a few months of dating.

“At Serrinha dos Pintos, deep down, we’re all cousins. We’re all about everyone,” she says.

Couples like Larissa and Saul are at the center of a new research project, in which Santos also participates. Supported by the Ministry of Health of Brazil, he will screen 5,000 pairs for genes associated with serious recessive diseases.

The goal is not to stop cousin marriages, but to help couples understand their genetic risks, Santos says. Now a university professor, she is also heading the Center for Education in Genetics and works to expand testing in the northeastern part of Brazil.

Although she no longer lives in Serrinha dos Pintos, every visit feels like getting home.

“It’s like Santos is a family,” Ines says.