“We must gird our loins and do this, just like any other duty …”.
This was stated in the mid-nineteenth century Brigham Young, who led the Church of Jesus Christ of Latter-day Saints (LDS), also known as the Mormon Church, in the city of Provo, Utah, United States.
The sacred task Young spoke of was polygyny, the practice of polygamy in which a man is allowed to have many wives, and that it had been imposed as the official line of the church some years before.
And Young wanted to lead by example. Although he began his adult life as a dedicated spouse to a single wife, he died with 55 wives and 59 children.
A century later, the consequences of this were reflected in health. In an office several hundred miles from where Young gave his speech, the case of a 10-year-old boy came into the hands of Theodore Tarby, a doctor who specializes in rare childhood diseases.
The boy had unusual facial features, including a prominent forehead, ears charmayes eyes very spaced apart and a small jaw. He also suffered from a severe physical and mental disability. After running all the usual tests, Tarby was stumped.
He sent a urine sample to a laboratory specialized in the detection of strange diseases and the diagnosis was “fumarase deficiency”, an inherited disorder of metabolism.
With only 13 cases known to science at that time (which translates to probabilities of one in 400 million), it was definitely a highly unusual case, which seemed to border on bad luck.
But it was not like that. It turned out that the boy’s sisterwhose parents believed he suffered from cerebral palsy, also suffered from “fumarase deficiency”.
Over time, Tarby, along with colleagues from the Barrow Neurological Institute in Arizona, United States, diagnosed eight new cases, in children 20 months to 12 years.
They all had the same distinctive facial features, similar developmental delays (most were unable to sit, much less walk) and, most importantly, they all came from the same region on the border of Arizona and Utah, known as Short Creek. And what was even more intriguing, the people of this region practice the polygyny.
In this small community isolated from the Fundamentalist Church of Jesus Christ of Latter-day Saints (FLDS, for its acronym in English), the probability of being born with “fumarase deficiency” is more than a million times higher than the world average.
“When I moved to Arizona, I realized that my colleagues here were probably the ones most familiar with this disease,” explains Vinodh Narayanan, a neurologist at the Arizona Genomic Translation Research Institute, who treated several patients with the “deficiency of fumarasa “.
What’s going on?
The disease is caused by a defect in the process that provides energy to cells. In particular, it is produced by low levels of the enzyme fumarase.
For those who inherit a faulty version, the consequences are tragic, include metabolic disorders, and are particularly devastating to the brain.
“It leads to structural abnormalities and a syndrome, including seizures and late development,” Narayanan says.
Faith Bistline has five cousins with the disease, whom she used to care for until she left FLDS in 2011: “They are physically and mentally disabled.”
The oldest started learning to walk when he was 2 years old, but stopped after a long seizure attack. Now 30, he is not even able to crawl.
Only one of her cousins can walk. “She can also do some vocalizations and sometimes you can understand a little bit of what she’s saying, but I wouldn’t call it talking.”
All are assisted by feeding tubes and need 24-hour care.
“Fumarase deficiency” is rare because it is recessive: only develops if a person inherits two faulty copies of the gene, one from each parent.
To understand why Short Creek is plagued with these cases, we have to go back to the middle of the 19th century. Young, in addition to leading the Mormon church, also founded Utah’s Salt Lake City in a sparsely populated desert valley and turned it into a polygamy utopia within a few decades.
But it did not last long. By the 1930s, the practice had been abandoned by the church and banned by the state of Utah, for which it was punishable by imprisonment and a fine (equivalent to about $ 10,000 in today’s money). The fans needed a new place to go.
They settled in the remote village of Short Creek, on the Utah-Arizona border. It was an area slightly larger than Belgium (36,000 square kilometers), with only a handful of inhabitants. The perfect place to hide from the authorities.
Today it is home to the twin towns Hildale and Colorado City on both sides of the border between the two states. About 7,700 people live. It is also the headquarters of the FLDS, famous for its conservative lifestyle and polygyny.
“Most families include at least three wives, because that’s the number you need to get into heaven,” says Bistline, who has three mothers and 27 siblings.
In the end, the link to “fumarase deficiency” is a numbers game. Young’s children fathered 204 grandchildren, who, in turn, had 745 great-grandchildren. In 1982, it was reported that he had at least 5,000 direct descendants.
This sudden explosion boils down to exponential growth. Even with only one wife and three children, if each subsequent generation follows, a man can have 243 descendants after only five generations.
In families that practice polygamy this is supercharged. If each generation includes three wives and 30 children, a man can – theoretically – flood a community with more than 24 million of its descendants in the space of five generations, or just over 100 years.
Of course, this is not what actually happens. Instead, people start marrying distant cousins (and in the FLDS, not so distant). In these types of societies it doesn’t take long before everyone is related.
In Short Creek, only two surnames dominate the local records: Jessop and Barlow.
According to local historian Benjamin Bistline, who spoke to the Reuters news agency in 2007, 75% to 80% of the people in Short Creek are blood relatives of the community’s founding patriarchs, Joseph Jessop and John Barlow.
We now know that most of the people who walk in this area do so with at least a lethal recessive mutation (one that would kill them before they reached reproductive age) in their genome.
And human beings did not become extinct because, being recessive, the deficiency appears if you have children with someone who also carries a copy of that same mutation.
“With polygyny, overall genetic diversity is decreasing because a few men are having a disproportionate impact on the next generation,” says Mark Stoneking, geneticist at the Max Planck Institute for Evolutionary Anthropology, Germany.
In isolated communities, the problem is compounded by basic arithmetic: if some men take multiple wives, others may not have any.
In the FLDS, a large proportion of men must be expelled before adolescence, further reducing genetic diversity.
“They are taken to the highways by their mothers in the middle of the night and thrown aside,” says Amos Guiora, a legal expert at the University of Utah who has written a book on religious extremism.
Some estimate that there may be as many as a thousand so-called “Lost Children”says Bistline, who has three siblings who were discarded.
The gene for “fumarase deficiency” has been traced back to Joseph Jessop and his first wife, Martha Yeates, who both had 14 children.
Today the number of people carrying the fumarase gene in Short Creek is believed to be in the thousands.
Polygyny in the world
The FLDS are not alone. Polygyny is found more in Africa than on any other continent.
In March 2014, the Kenyan Parliament passed a bill allowing men to marry multiple wives, while in many West African countries it has been practiced for thousands of years.
And also polygyny is associated with rare diseases in these areas. In Cameroon, scientists reported a polygamous community with abnormally high levels of stuttering.
By comparing local genomes with those of sub-Saharan Africa, South Asia, and North African populations, the researchers identified “exceptionally rare” genetic variants in this community, although the authors do not speculate whether this is a consequence of polygyny. .
Since inbreeding tends to uncover “recessive” mutations that would normally remain hidden, studying these communities has helped scientists identify many genes that cause disease.
That’s because genetic information is useless on its own. To be meaningful to medical research, it must be linked to information about the disease. In fact, More human disease genes have been discovered in Utah, with its Mormon history, than anywhere else in the world.
It’s not the legacy Young hoped for, but in the end the controversial practice may have some unwanted positives.