Inside the secluded village battling a rare disease where ‘everyone is somehow a cousin'
More than two decades ago, biologist and geneticist Silvana Santos made a trip to Serrinha dos Pintos, a remote town nestled in the hills of northeastern Brazil. With fewer than 5,000 residents, the town had long been grappling with a baffling medical mystery; many children were losing their ability to walk, and families had no explanation, reported the BBC.
Santos was initially drawn to the town through her neighbours in São Paulo, many of whom had roots in Serrinha and had married within their extended families. They shared troubling accounts of relatives back home afflicted by an unknown illness. This visit would eventually lead Santos to uncover and name a previously unknown genetic disorder, Spoan syndrome, marking a turning point for the town's medical and social understanding.
It marked the first time the disease had ever been described globally, and her groundbreaking work later earned her a spot on the BBC's list of 100 most influential women in 2024.
Spoan syndrome is caused by a genetic mutation that weakens the nervous system over time. The condition only appears when the mutated gene is inherited from both parents. Today, thanks to Santos, locals speak openly about genetics and Spoan.
'She gave us a diagnosis we never had. After the research, help came: people, funding, wheelchairs,' says Marquinhos, one of the patients.
The discovery began in São Paulo, where Santos lived in a neighbourhood with many people originally from Serrinha dos Pintos. Some were married to cousins and shared concerns about relatives in their hometown who couldn't walk. One woman, Zirlândia, suffered from involuntary eye movements and eventually lost strength in her limbs, needing constant assistance.
Encouraged by her neighbours, Santos travelled to the town and was struck by what she found: both the natural beauty and the strong presence of interrelated families. Marriage between cousins was common, a result of the town's geographic isolation and minimal outside migration.
Global studies estimate that about 10% of marriages occur between relatives, but the rate varies by country: over 50% in Pakistan, around 1–4% in Brazil, and less than 1% in places like the US and Russia. Most children of cousin couples are healthy, but the risk of rare genetic disorders increases when both parents carry the same mutation.
'If a couple is unrelated, the chance of having a child with a rare genetic disorder or disability is about 2–3%. For cousins, the risk rises to 5–6% per pregnancy,' says Luzivan Costa Reis, a geneticist at the Federal University of Rio Grande do Sul.
In a 2010 study led by Santos, more than 30% of couples in Serrinha were related, and a third of them had at least one child with a disability.
Determined to find answers, Santos began an in-depth genetic investigation. She frequently drove 2,000 km between São Paulo and Serrinha, collecting DNA samples, speaking with families, and tracing histories over coffee chats. What began as a short research trip turned into years of committed fieldwork.
Her efforts culminated in a 2005 study that officially documented Spoan syndrome, caused by a loss of a small fragment of a chromosome. This defect leads a gene to overproduce a key protein in brain cells, disrupting normal neurological function.
'They said it came from Maximiano, a womaniser in our family,' recalls farmer Lolô, whose daughter Rejane lives with the condition.
Now 83, Lolô still lives in Serrinha and relies on family to care for Rejane. But scientists believe the genetic mutation predates local legends and likely arrived in Brazil over 500 years ago with early European settlers.
'Sequencing studies show strong European ancestry in patients, supporting records of Portuguese, Dutch, and Sephardic Jewish presence in the region,' explains Santos.
Her theory gained further support when two cases of Spoan were identified in Egypt. Genetic analysis linked them to the same European ancestry, possibly tracing the mutation's origin back to Sephardic Jews or Moors fleeing the Inquisition on the Iberian Peninsula.
Though there is still no cure, Santos's work has changed lives in Serrinha. Awareness has replaced stigma, and resources like wheelchairs have offered mobility and independence. In the past, people with the condition were often bedridden or left on the floor.
As the disease progresses, patients typically become fully dependent by age 50. This is the case for Inés's sons, Chiquinho and Marquinhos.
'It's hard to have a 'special' child. We love them the same, but we suffer for them,' says Inés, who is married to her second cousin.
Their niece, Larissa Queiroz, 25, also married a distant cousin. Only after months of dating did she and her husband realise they shared a common ancestor.
'In Serrinha dos Pintos, deep down, we're all cousins. We're related to everyone,' Larissa admits.
Also read: How UK is changing visa rules to crack down on immigration, target low-paid workers
Couples like Larissa and Saulo are now part of a new genetic screening initiative backed by Brazil's Ministry of Health. The project aims to test 5,000 couples for genes linked to serious recessive diseases.
The goal is not to discourage cousin marriages, Santos says, but to equip couples with knowledge about potential risks. Now a university professor, she also runs a genetics education center and advocates for better testing access in northeastern Brazil.
Although she no longer lives in Serrinha dos Pintos, Santos still returns regularly.
'It's as if Santos is family,' says Inés.
Also read: Australian man calls Bengaluru slang 'pointless', internet claps back with cultural origins
Try Our AI Features
Explore what Daily8 AI can do for you:
Comments
No comments yet...
Related Articles
Time of India
2 hours ago
- Time of India
5 animals that could gulp a human in one go
While saltwater crocodiles and Komodo dragons could potentially swallow a small human in pieces or whole, humpback whales lack the physical ability. Reticulated pythons have been confirmed to swallow humans entirely, as evidenced by a 2017 incident in Indonesia. Although unconfirmed, green anacondas possess the capability to consume a human, given their size and prey. Human beings have always been considered as apex predators in the food pyramid, but even the idea of being swallowed by a giant beast like an anaconda is no less than a nightmare and seems to be a story out of tabloid headlines and survival horror stories. But how likely is it in real life? While most animals, even large ones, prefer to tear food into manageable pieces, there are a few exceptions that make the possibility more real than we'd like to believe. Some creatures have the size, anatomy, and appetite to at least try it! Be it massive reptiles to mysterious ocean giants, the animal kingdom includes a handful of contenders capable of swallowing something about human-sized. The odds are low, but not zero. Here are five animals that are capable enough to swallow a human being Saltwater crocodile Saltwater crocodiles are the largest living reptiles, with some males reaching as long as 6 metres and a tonne in weight. However, they don't swallow their prey whole. Instead, they perform a 'death roll' to tear limbs from the body, then swallow in pieces. While it's rare, a very small human might disappear in a few gulps, though this is mostly speculative. by Taboola by Taboola Sponsored Links Sponsored Links Promoted Links Promoted Links You May Like Scam Exposed: What They Won't Tell You about zero trust! Expertinspector Click Here Undo Komodo dragon Komodo dragons are the world's largest lizards, growing up to 3 metres and weighing up to 100kg. These Indonesian predators use serrated, iron-tipped teeth to shred flesh in violent bites. Larger prey is torn into chunks, but animals the size of young goats have been swallowed whole. According to the Komodo National Park, human attacks are documented, 24 between 1974 and 2012, five fatal, but no confirmed cases of a person being swallowed exist. Still, a small adult or child could be within range of this possibility. Humpback whale Despite their massive size, humpback whales can't swallow a human. Their throats are too narrow, adapted only for small prey like krill and fish. In 2021, lobster diver Michael Packard was briefly engulfed by a feeding humpback off Massachusetts, but was spat out after 30 seconds, as reported by BBC. There were no injuries, just shock and confusion. Humpbacks don't target humans, and this rare encounter was more about bad luck than danger. Reticulated python The reticulated python is the only animal on this list proven to have swallowed humans whole. Native to Southeast Asia, it can grow over 7 metres long and kills prey by constriction before swallowing it entirely. Its flexible jaw and expandable body allow it to ingest creatures far wider than itself. Deutsche Welle reported that on March 29, 2017, villagers in Sulawesi, Indonesia, discovered the missing farmer Akbar inside a 7 m python after noticing the snake moving awkwardly. They cut it open and retrieved his fully intact body. Green anaconda Green anacondas, found in South America, may not be as long as pythons but are much heavier, sometimes growing to be as heavy as 100kg. They've been known to kill large animals like caimans and capybaras. Human consumption has never been confirmed, likely due to the snake's reclusive habitat. However, a 2024 video showed a man nearly crushed by one in a Brazilian river before escaping with help. While no verified cases of human swallowing exist, the potential is definitely there under the right or wrong circumstances. Photo credits: Canva
United News of India
a day ago
- United News of India
Former England fast bowler Lawrence dies
London, June 22 (UNI) Former England and Gloucestershire fast bowler David 'Syd' Lawrence has died at the age of 61. Lawrence, the first British-born black cricketer to represent England, was diagnosed with motor neurone disease (MND) last year. He was appointed MBE in the King's Birthday Honours earlier this month after raising money and awareness of the condition. Lawrence played five Test matches for England and took 625 wickets in 280 matches during a 16-year career at Gloucestershire. "'Syd' was an inspirational figure on and off the cricket field and no more so than to his family who were with him when he passed," said a family statement announcing his death. He made his first-class debut for the county in 1981, gaining the nickname Syd after the British bandleader, according to a BBC news. Lawrence went on to take three wickets on his Test debut against Sri Lanka at Lord's in 1988. A bowler capable of reaching extreme pace, Lawrence did not play again for England until 1991 when he took 14 wickets across three Tests and played his sole one-day international the same summer. However, his career was curtailed by a serious knee injury suffered while playing for England against New Zealand the following winter. He played four County Championship matches in a comeback in 1997 but did not play again in top-level cricket afterwards. After retirement he became a nightclub owner and amateur bodybuilder before being named Gloucestershire's club president in 2022. He continued in the role after his MND diagnosis last year and has been a prominent campaigner to support those with the disease. UNI BM
NDTV
2 days ago
- NDTV
UK Woman, 59, Dies Of Rabies After Getting "Slightly" Scratched By Stray Puppy In Morocco
A 59-year-old British woman has died of rabies after getting "scratched" by a stray puppy in Morocco, the BBC reported. Yvonne Ford, from South Yorkshire, died on June 11. In a Facebook post, her daughter, Robyn Thomson, wrote that her mother was "scratched very slightly" by a puppy in Morocco in February. "Two weeks ago she became ill, starting with a headache and resulted in her losing her ability to walk, talk, sleep, swallow. Resulting in her passing," she said. Ms Thomson said the family "is still processing this unimaginable loss". She shared information about rabies, and urged people to "please take animal bites seriously". "We never thought something like this could happen to someone we love ... vaccinate your pets, and educate those around you," she concluded. According to the BBC, Yvonne Ford was diagnosed at Barnsley Hospital after returning to the UK and was later transferred to the Royal Hallamshire Hospital in Sheffield. She died on 11 June. An investigation into her is ongoing, the outlet reported. Rabies is a deadly virus that's nearly always spread to humans from contact with a sickened animal. It is advised to seek medical treatment immediately after any contact with a wild animal. Once symptoms begin to show, the condition is usually fatal. Symptoms include numbness or tingling where you were bitten or scratched, hallucinations, feeling very anxious or energetic, difficulty swallowing or breathing and paralysis. Symptoms of rabies usually take three to 12 weeks to appear, but they can also appear after a few days or not for several months or years, per the outlet. For Mrs Ford, her symptoms took months to show up. In her Facebook post, Ms Thomson wrote that her mother was scratched in February and "two weeks ago she became ill". "At the time, she did not think any harm would come of it and didn't think much of it," she said, adding that her mother's symptoms began "with a headache and resulted in her losing her ability to walk, talk, sleep, swallow. Resulting in her passing." Rabies is a virus that causes an infection of the brain and nervous system in humans.
