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People With Sickle Cell Deserve More Respect From Health Care Providers

More than 50 years ago my parents took a big chance. They fell in love, got married and had three daughters, not knowing that they both carried the genetic trait for sickle cell disease.

When I first started my career in emergency medicine 28 years ago, the main treatments for this disease were intravenous fluids, oxygen and a powerful narcotic used to manage the pain of sickle cell. With the Food and Drug Administration's recent approval of two treatments for sickle cell that use the gene-editing technology CRISPR, people with this life-shortening condition have hope for relief from the pain and reduced life span it causes. But in the meantime, we must remember that the people with sickle cell, who are mostly Black, are often marginalized in many ways, including in health care. Who gets access to this high-tech, high-cost treatment remains to be seen, so until then, health care workers at all levels must continue to take people with sickle cell at their word, treat their pain without prejudice and give them the same tenderness and respect these workers would give to a person dying of cancer or heart disease.

I never thought my parents' sickle cell status was a big deal until my first year of medical school, where I learned about the intricacies of the disease. Sickle cell is caused by an autosomal recessive mutation on one of the chromosomes we inherit from our parents, meaning that in order for someone to have the condition, they have to inherit this mutated gene from both of their parents.

Sickle cell disease is caused by what's called a point mutation—a change at a single spot on our DNA—that damages normal hemoglobin, the protein that helps blood carry oxygen through our body. Those misshapen hemoglobin proteins stick together in people with sickle cell, distorting the shape of red blood cells from a round shape to a sickle one that cannot flow through our blood vessels as easily. The blood cells get "stuck" to one another and block the vessels in the bones, spleen and various organs as they try to traverse through the body. When the cells of people with sickle cell clog their blood vessels, they are in extreme pain that can last for several days as their body figures out how to clear the blockage. We call this a crisis.

In high-stress conditions, such as infection, heat, dehydration or even mental duress, where oxygen is low, the sickling gets worse. The blood cells of people with sickle cell die prematurely. As a result, these individuals suffer from complications that are normally seen in people who are much older, and they have a much shorter life expectancy than people without sickle cell. When both parents have the genetic trait for sickle cell, there is a 50 percent chance they will have a child who has the trait but does not typically have symptoms of the disease and a 25 percent chance that they will have a child with sickle cell disease with each pregnancy. The chance of having a child with sickle cell disease jumps to 50 percent if one parent has the disease itself and the other parent has the trait.

As a physician in the majority-Black city of Washington, D.C., I have seen countless adults with sickle cell come in with pain related to crises and other complications that occur as the disease continues to take a toll on their prematurely aging body.

Because people with sickle cell come to the emergency department (ED) in pain, medical staff often label them with the unfortunate and disrespectful vernacular ED term "sicklers," and this is often accompanied by assumptions that they are either not in pain and seeking opioids to get high or maybe are in pain but are still seeking drugs. This bias can cause delays in care.

Over the years, I have gotten to know the people with sickle cell who come to my ED fairly well—usually on a first-name basis. I feel a connection with them because of our shared race and the knowledge that their fate could have easily been my own. As time passes, I have seen them go from functional to frail—suffering from the multiple complications of the disease, including arthritic joints, blood clots, severe infections and strokes.

I always worry about whether they are dead or alive when there is a long period of time in which I haven't seen them. And over the years, I have seen the number of "regulars" I have known diminish as they have fallen to their ultimate and unavoidable end—death at a median age of 53 years. I also mourn these deaths, preceded by years of suffering and having to navigate an often insensitive medical system. These individuals' chance of early mortality is even higher if they are male or happen to have been born in sub-Saharan Africa, where up to 90 percent of children with the disease will die during childhood, usually before their fifth birthday.

There are few therapies for people with sickle cell. Parents, who often do not know their own status as a carrier, would be given genetic counseling if it was available. If they proceeded to have a child with the disease, they would have to prepare for a lifetime of stress and high costs attributable to a condition marked by periods of agonizing pain, repeated hospitalizations and early death. Individuals living with this condition pay four times the out-of-pocket costs of those without it, with insurers paying approximately $1.7 million per person for medical services attributable to the illness.

So, it's good news that the FDA has approved two cell-based therapies for sickle cell disease—Casgevy and Lyfgenia. These are the first gene therapies for sickle cell disease based on the CRISPR/Cas9 technology. This technology, the development of which won a Nobel Prize in 2020, enables an individual's DNA to be changed with "genetic scissors." In the case of sickle cell, this change promotes production of fetal hemoglobin, which takes the place of the mutated hemoglobin, reducing the number of cells that sickle. This lowers the chance of one of the most painful crises experienced by patients with sickle cell: the vaso-occlusive, or blocked blood vessel, crisis. The treatment also increases life expectancy.

Prior to this therapy, curative options were limited to bone marrow transplants from donors, which were prohibitive because a person with sickle cell would need a matched donor but also because of the risk of mortality linked to rejection.

This is why the FDA approval is such a big deal. Because the disease affects a vulnerable population marked by years of racism that impacts overall care, there has been a traditional lack of attention to research and development targeting a cure.

Funding for research for sickle cell disease is significantly less than the funding for other inheritable childhood diseases. For example, over a 10-year period, the National Institutes of Health has funded sickle cell disease research at an amount equivalent to $812 per affected person. Private funding is minuscule at $102 per affected person. Contrast this with cystic fibrosis, which affects 30,000 people in the U.S., compared with the 90,000 people affected by sickle cell disease. Over those same 10 years, the NIH funded $2,807 of research per person affected by cystic fibrosis, and private organizations have funded $7,690 per person with the condition. Is it any wonder, then, that few new therapies have emerged for sickle cell disease?

The new CRISPR-based therapies are a potential game changer, but there are still many obstacles ahead. We have to get providers to accept the treatment, and we also have to get payers to somehow foot the $2.2-million-to-$3.1-million bill for a population that our health care system frankly hasn't shown that it cares a lot about. We also have to get people with sickle cell, who have long been mistreated by providers, to actually trust us enough to undergo this novel treatment.

To do this, we need mutual respect and belief in the right of every person to have a chance at a quality and highly productive life, regardless of whether they happen to be born with just one point mutation among the multitude of genes that we share. Among people, human DNA is 99.6 percent identical, and most of it has nothing to do with the social constructs of race, gender or ethnicity. We are much more alike than we are different.

By chance, neither myself nor my sisters got both copies of the genetic mutation that causes sickle cell disease. Instead we inherited the trait. In most cases, except under some rare instance of extreme duress, we will never have symptoms. We do not have to worry about early death. We did, however, have to consider our choice of partners because of the risk of passing on this disease to any children we might have. Instead of ending up with regular visits at the doctor, one of my sisters and I were lucky enough to be on the other side as a physician, caring for those affected by this terrible, unforgiving illness.

I hope that one day this treatment will not only be proven to be highly effective but also be widely adopted. I would love for a day to come in which I will never see people with sickle cell in the ED and no one with the sickle cell trait ever has to agonize about genetics when choosing a partner. But until then, I hope that we, as health care providers, can start treating people with sickle cell with kindness, compassion and the understanding that their life is just as valuable as the life of anyone who comes into one of our emergency departments or clinics in distress.

This is an opinion and analysis article, and the views expressed by the author or authors are not necessarily those of Scientific American.

After 'SNL' Skit On Sickle Cell CRISPR Therapy, Advocates Cite Errors And Stereotypes

Mary Brown was sipping coffee at home in Ontario, Calif., Sunday morning when a friend sent a video clip that ruined her breakfast.

It contained a skit from "Saturday Night Live" the night before about the new gene therapies for sickle cell disease. In it, workers gather for an office white-elephant-style gift exchange. A white employee, played by Kate McKinnon, gives a Black employee with sickle cell, played by Kenan Thompson, enrollment in "Vertex Pharmaceutical and CRISPR Therapeutics' exa-cel program for sickle cell anemia," explaining that it was a cure and she had an in with the company to get ahead on the waiting list.

Thompson thanks McKinnon, hugs her, and then, to audience laughter, explains, "I'm just going to swap this out for a Boogie Woogie Santa" — a singing, trumpet-playing Santa figurine. Another white employee gets the cure, but explains he or a family member won't be able to use it because "my whole family is white." 

Finally, a second Black employee, played by Punkie Johnson, explains that her mom has sickle cell and that after seeing her suffer "all these years, I can make her smile — with this Boogie Woogie Santa!" The audience erupts.

Brown, the longtime director of the Sickle Cell Disease Foundation, was irate. 

"To see sickle cell as a joke — it was very distressing," she said. "I have seen people die. I have been to too many funerals."

Brown was far from alone. The sketch reverberated around the sickle cell community the next morning. To many advocates, patients, and doctors, it seemed to perpetuate falsehoods and stereotypes that had harmed sickle cell patients and held back progress for decades: that sickle cell was strictly a "Black disease"; that patients didn't or couldn't make responsible decisions about their own disease — and would, for example, choose a Santa toy over a curative therapy.

Three prominent advocacy groups, the Sickle Cell Disease Foundation, the Sickle Cell Disease Association, and Sick Cells, put out statements condemning the sketch. 

"It's how they had the sickle cell characters: They made them look stupid, they made them look unintelligent," said Ashley Valentine, head of Sick Cells, adding, "And the problem is that's truly what we face."

Mariah Scott, another advocate with Sick Cells and a patient herself, said the skit reminded her of being taunted by classmates for the yellowing of skin from jaundice, a common symptom. "The kids called me a witch," she said. 

Representatives for NBC did not respond to requests for comment. Nina Devlin, a spokesperson for Vertex, said the company was not contacted ahead of time.

'What's The Worst That Could Happen?': Love In The Sickle Cell Capital Of The World

Subomi Mabogunje fell for Nkechi Egonu within hours of meeting her in 2004. They were working at a state-run TV station in Ijebu Ode, a trading hub in south-west Nigeria. While Subomi was thin and bespectacled, Nkechi was petite and voluptuous, with her hair in a ballerina bun, and coldly immune to the stares that trailed her across the office. Her swaggering personality was also the opposite of his reserved one, and she was quickly promoted to programme presenter. She was the most exciting person, Subomi felt, who had ever walked into his home town.

He found the courage to speak to Nkechi one weekend when they were assigned to do community service, clearing overgrown grasses near a government building. Subomi went, despite his habitual avoidance of strenuous physical activity. "You're too good for this kind of work, ehe?" Nkechi teased. With his hollow cheekbones, frail body and elongated fingers, Subomi was clearly what some uncharitable onlookers would call a "sickler" – one of up to 6 million people in Nigeria with sickle cell disease (SCD), a group of inherited blood disorders that turn red blood cells from soft discs into rigid crescents, leading to blood clots, pain episodes called "crises" and serious complications in most major organs. But Nkechi never shied away from him. Within a few weeks of their first conversation, they were inseparable.

From the beginning, Nkechi knew that she and Subomi had "no business dating". His genotype was SS: he had two abnormal S genes for haemoglobin, the oxygen-carrying protein in his blood. Nkechi's genotype was AS: she had one abnormal S gene and one normal A gene. Like an estimated quarter of all Nigerians, she was a "silent carrier" of the disease. So there was a 50% chance that any child they had would be born with SCD. This was no light prospect. Subomi's childhood had been marred by secrecy and shame over his condition, and Nkechi had lost four SS cousins to it. But those deaths happened in the decades before widespread genetic testing. Today, there was a growing consensus – particularly in their university-educated, upper-middle-class milieu – when it came to passing on two sickle-cell genes: don't risk it.

But how, and when, do you weigh risk against attachment? Nkechi revealed her genotype just days after meeting Subomi, and he didn't stop loving her. By the year's end, Nkechi had fallen in love with Subomi, too – but she thought it shouldn't last. In March 2005, she moved to Lagos alone. Subomi simply followed her. In April 2006, she broke up with him at a fried chicken restaurant, screaming about how stupid, how uneducated, it would be for them to stay together; they reconciled a week later. She broke up with him again in January 2008, sitting in his parked car; that separation lasted a month.

Nkechi was just shy of 30 when she initiated their third breakup, in late July 2009. As the eldest of six, she was starting to feel uneasy that neither she nor her siblings had married or started families, unusual for Nigerians of their generation. She had even talked to a genetic counsellor at the Sickle Cell Foundation Nigeria, in Lagos, who had advised her to end the relationship. (A representative from the foundation told me that this is against their policies.) Nkechi and Subomi talked and cried for three hours as the sun set, and she kept crying on the lurching bus ride home. They were tears of grief, but also relief. She had finally, and responsibly, severed this unwieldiest of attachments.

Subomi didn't sleep much that night. Early the next morning, he started driving to his father's house in Ijebu Ode. Something told Nkechi to call him in the afternoon, to make sure he'd got there. Subomi's boss picked up the phone.

"I was actually just about to call you," Nkechi recalls him saying, over a crackling connection. "Subomi's had an accident."

Less than an hour outside Lagos, Subomi's sedan had been rear-ended, hit a truck and flipped over. Paramedics had taken him to a hospital in the city of Ibadan. Nkechi's mouth went dry. At dawn, she began a long bus journey to the hospital.

Subomi was in the ICU, in a coma. Nkechi held his mother's hand as the doctor explained his prognosis. It could be hours, days, weeks or months before he woke up, if he woke up at all. Nkechi had to work on Monday, but she returned to Ibadan the following Friday, inaugurating a regular weekend pilgrimage.

On the first Saturday in September, she showed up as usual and was stunned to find Subomi awake. She screamed with joy and clasped his hands. He was soon discharged, but still faced a long road to recovery. Nkechi substituted her weekend trips to Ibadan with visits to his mother's house in Lagos. She guided him through complicated stretches, gave him sponge baths and crawled on the floor beside him as he learned how to walk again. Remarkably, he was on his feet within six months. Whenever Nkechi left his side, he started to ask her when they were getting married.

"We are broken up," she would remind him.

"I have no recollection of that," he would say. "Or did you forget I was in a month-long coma?" It was hard for her to gauge his sincerity.

In the new year, Subomi could not only walk but also drive again, and as he regained strength, the flame of Nkechi's attraction flickered. She didn't try to put it out. For once, none of their family members were asking probing questions about the future. One afternoon in August, when Nkechi was making sure Subomi's bed was comfortable, he pulled a pink tourmaline ring from his pocket and formally proposed.

Later, Nkechi's mind would cycle through the previous six years – their chance meeting in Ijebu Ode, those afternoons at the car-wash bar, breaking and making up in Lagos, the accident, his convalescence – and she would wonder if they were making the right choice. But in that moment, and without hesitation, she said yes.

Nigeria is the sickle cell capital of the world. Its residents account for about half of all new cases of severe haemoglobin disorders worldwide. And SCD is one of the world's most prevalent autosomal recessive genetic disorders; the sickle cell trait is more than six times more common in Nigerians than the cystic fibrosis gene is among people of northern European descent, or the Tay-Sachs gene among Ashkenazi Jews.

In the 1950s, a number of scientists speculated that the sickle cell trait confers some resistance to malaria – now a widely accepted theory – which would account for the prevalence of the gene in sub-Saharan Africa, home to more than 90% of all malaria cases in the world. Over millennia, according to this hypothesis, as more AS than AA children survived acute malaria infections and reached reproductive age, they passed on their single S genes. But for those with two such genes, the potential complications include acute pain episodes, acute chest syndrome, strokes, priapism, jaundice, numb chin syndrome, an enlarged spleen, leg ulcers and blindness.

The heritability of sickle cell anaemia, the most common and severe form of SCD, is as follows: if both parents are carriers (AS/AS), their children have a 25% chance of having the disease. If one parent has the disease (SS) and the other has no sickle cell genes (AA), there's a 100% chance their kids will be carriers (AS) and a 0% chance they will have the disease. A couple like Nkechi and Subomi, where one parent has the disease and one is a carrier, has a 50% chance of giving birth to an SS child and a 50% chance of an AS child.

Olufemi Akinyanju, an 86-year-old Nigerian haematologist, started identifying sickle cell patients as a young doctor in Lagos in the 1960s, fresh out of medical school in London. In 1994, he founded the Sickle Cell Foundation Nigeria in Lagos, now one of the region's pre-eminent treatment and diagnosis centres. His generation of doctors helped SCD testing take root in Nigeria. The most common blood test is haemoglobin electrophoresis, in which electrical currents are passed through a blood sample, separating different types of haemoglobin into discrete bands. The test is now commonplace in urban centres such as Lagos and Abuja. Testing in a high-end facility can cost up to US $40, but there are also free and cheap clinics, which can provide results in as little as 30 minutes.

Nkechi, who was born in 1979, has known her genotype since she was seven. But testing is less accessible outside major cities, especially in the country's poorer northern states. And in less well resourced clinics, results are often inaccurate. Some find this out the hard way, like Ezekiel Ogbu, a 36-year-old bus driver with SCD who lives in Lagos. In 2018, he discovered, a few weeks before his wedding, that his fiancee was not AA, as she had long believed, but AS. They broke up, and called off a wedding with more than 500 guests. Many Nigerian sickle cell activists now recommend two or three different blood tests to be sure.

Determining your genotype is one thing, but puzzling out its implications is another. Given Nigeria's emphasis on marriage, its relatively low incidence of prenatal testing and the illegality of abortion in most cases, a social norm is rapidly consolidating to dissuade two people with sickle cell genes from marrying, or even dating. (Not all Nigerians share this attitude. A 2015 study found that one in five people who realised they were in AS-AS relationships from their premarital screenings got married anyway.) But genotype screening is now a requirement to get married in many Nigerian churches and mosques. And states in the north and the south have passed measures to mandate premarital testing. In 2020, the Nigerian Senate debated an SCD management bill that would encourage premarital testing nationwide. During these discussions, Chukwuka Utazi, a senator from Enugu State, implied that he had suffered a genotype-related breakup of his own. He understood what a painful choice it could be. But in Africa, he maintained, "we marry for children, we don't marry for love". Another senator chimed in: "We will not allow love to take away the best part of our marriages."

Heterosexual Nigerian couples who come to these genetic crossroads are not merely grappling with whether to break up or get married. They are also considering what makes a good life, for themselves and for their prospective children. SCD is not a death sentence – especially in a city like Lagos – but it is usually a life sentence. Its two most effective treatments, bone marrow transplants and gene editing, are out of reach for ordinary people. Most Nigerians with SCD must deal with painful crises, procure expensive medications, seek out specialists and confront stigma, including obstacles to someday starting a family of their own. Should such people come into existence at all? The question sounds crude or even amoral, but when Nigerian carrier couples split up, their implicit answer is no.

Their concerns are also broadly relevant beyond SCD. As genetic testing becomes more common, many prospective parents, in many countries, will find themselves asking: which diseases should we test for? Which conditions truly compromise a child's future, and which are ultimately manageable? How much can you really control? And what is worth sacrificing to be with the person you love? In Nigeria, these questions are already part of daily life.

Last year, I made several trips to Lagos to meet Nigerians who have navigated dating, love and marriage under the star of their sickle cell genotype. And like all cities, it's filled with strivers, trying to make rational decisions about their future. A 2021 study of more than 1,300 city-dwelling Nigerians found that 29% of respondents had ended a relationship due to "genotype incompatibility".

Among the Lagosians I met were: several individuals who had broken up with their carrier boyfriend or girlfriend in their 20s; a fortysomething couple who, upon discovering their daughter was SS, belatedly realised they both had AS genotypes; a single mother of three whose husband left her after two of their SS children started having severe crises; several older single women with the sickle cell trait who had given up on marriage altogether; and a woman in her 70s with SCD who had been happily married for more than 50 years.

I heard about people who had forged their genotype test results, people who hid their status from their spouses, and couples who lied to get married in their house of worship. People explained all these weighty decisions straightforwardly, as though recalling what they had for lunch. Everyone I spoke to was religious – either Christian or Muslim, Nigeria's two major faiths – and expressed the belief that any outcome, be it heartbreak, late-in-life romance, or a child with surprise SCD, had, to some degree, been willed by God.

While many carriers worry about bringing SCD into another generation, Lagosians who already have the disease face relationship quandaries of their own. Thirty-year-old Princess Samuel, for instance, stoically endured the pain crises of her childhood, but fell in love with a medical student once she went to university. He promised he didn't care about her genotype, because he was AA, but they kept her status a secret from his less tolerant parents for three years. Then, in 2017, she had an acute crisis. Her boyfriend feared for her life and called in favours to fast-track her treatment at the hospital where she was admitted – including with his mother, who was a nurse there. She helped Princess get priority treatment, and then promptly demanded that they break up. They did, and he married someone else last year.

Princess has had a few flirtations since then, but all have faded when she has been sick or hospitalised. Last spring, she quit her job and moved back in with her mother. She has had three more vaso-occlusive crises, which happen when sickled red blood cells congeal and deprive tissues of oxygen. The most serious one left her with a hospital bill that cost nearly as much as her mother's yearly rent. Living with SCD is not cheap. There are prevention regimens of vitamins, painkillers and antibiotics (up to US $30 a month, for Princess), hospital admissions (sometimes $150 a day at a private hospital), blood transfusions (often more than $100), and specialist copays – all of which hit harder in Nigeria's flailing economy. The cost is not daunting just for patients, but also for their prospective partners and in-laws. "People think the cheapest is just to walk away, really," said Timi Edwin, a 35-year-old SCD advocate who has the disease.

Nkechi and Subomi got married twice: first in her Igbo family's village in Mbaise, and then in a Yoruba ceremony in Ijebu Ode. The first wedding was on 3 December 2010. Nkechi was a calm and happy bride. She wore a lilac crepe wrapper, tied like a skirt, and a coral-bead headdress. Subomi wore a shirt printed with roaring lions, a traditional Igbo motif. A week later, in Ijebu Ode, Subomi's cousin washed Nkechi's feet as she stepped in, as a bride, to a house that she already knew so well. They skipped a third church wedding, which also let them sidestep premarital genotype testing requirements.

Nkechi's sister Uche met Subomi a number of times while they were dating. "I asked her several times, are you ready – really ready – if you have an SS child?" Uche told me. And was she very sure his family knew she was a carrier, too? "But then she did a fantastic job taking care of him after the accident," Uche said. It felt silly to keep probing.

A pharmacy queue in Lagos, Nigeria. Photograph: Ton Koene/Alamy

As a wedding present, Subomi's parents gave them a two-bedroom house in their Lagos compound. Both families were in high spirits through Christmas, including Nkechi's 100-year-old grandmother, who was overjoyed that her grandchild was finally embarking on her adult life. Nkechi and Subomi didn't tell her, or anyone else, that they had decided, as a condition of staying together, not to have children.

As newlyweds, they could finally live together, and they loved their city. They spent weekends at Lagos's nightclubs and urban beaches, and went to separate churches on Sunday mornings. Sometimes, they even collaborated on graphic design work. But things started to change around their first anniversary. More nights were spent staying home to watch TV than out on the town. Subomi started to feel lonely again, like there weren't enough people at home. He began twisting Nkechi's arm: what if they tried for a baby? "There's got to be more to life than this," he told her. "Please? Just one?"

They found themselves attending their friends' babies' naming ceremonies and birthdays, and then Nkechi's younger brothers started having children. Her resolve to remain child-free was waning. Doctors told her that the science of SCD management had advanced in leaps and bounds, and that many babies born with an SS genotype could now live to old age. At 32, Nkechi decided to stop taking her birth control pill.

Nothing happened for four years. But in early 2016, she found out she was pregnant. When she told Subomi, he burst into tears.

Almost in the same breath, they had to consider the elephant in the room. Testing the foetus's sickle cell genotype would require an invasive test. Subomi begged her not to do it, both because the procedure posed a small risk of miscarriage, and because it had taken them so long to conceive. A week passed as Nkechi mulled it over, during which time the foetus started to kick. She realised she could not go through with an illicit abortion, whatever the genotype was. "Well," she told Subomi, "here we go. What's the worst that could happen?"

Their child was born on 20 October 2016, by caesarean section. Nkechi woke up from the anaesthesia in a cold sweat and learned that the baby – her son – was in another room, where nurses were starting him on a ventilator after he had ingested his own stool on the way out. When Nkechi saw him for the first time, he was on intravenous antibiotics. She didn't expect to feel so attached to this small person – so responsible for him. They brought him home two days later and named him Momoreoluwa, meaning "I know the grace of God." Momo, for short.

Subomi was overjoyed. He spent all day with Momo, rambling to him about current events, changing his nappies, bathing him, watching him sleep. But both parents were on edge until they brought three-month-old Momo for a sickle cell screening. When it indicated that he was just a carrier, they were walking on air.

Seven months later, Momo woke up sobbing, with swollen hands. It was, as Nkechi's mother quickly recognised, dactylitis: swelling of the fingers or toes due to blocked blood vessels – a classic early symptom of SCD. But what about the genotype test? His foetal haemoglobin, which lingers for months, may have confused the results. Nkechi bundled Momo into their car and drove to the hospital where he'd been born. A new blood test confirmed that he was SS. That same night, he started his daily programme of antibiotics and antimalarial pills.

Subomi was too distressed to be of much help. Part of his grief, Nkechi knew, came from the painful memories of his own childhood, when distant relatives told him he'd die before he was 10, and his parents warned him to avoid even mentioning his condition. But Momo's case was different from Subomi's. He had been diagnosed early, life expectancies for patients had risen, and his parents knew much more about managing the disease. And Nkechi was going to be open about her son's condition, not hide it. "You can do better for Momo than your parents did for you," she told Subomi. They were both anxious after Momo's diagnosis, but after months of keeping infections at bay, they relaxed a bit. Maybe they hadn't been totally reckless, after all, in rolling the genetic dice. Maybe the worst that could happen wasn't that bad.

There are not yet universal standards for genetic testing, but a narrow consensus has emerged around specific conditions, in certain communities. The first prenatal diagnosis for Down's syndrome was made in 1968. Since then, screenings have become routine for pregnant women in many parts of the world. In Iceland, for instance, the vast majority of women choose to be screened, and up to 85% of those who learn of an increased likelihood of the disorder choose to terminate their pregnancy. This has resulted, locally, in the condition's virtual disappearance. But the Icelandic approach is far from universally accepted, with some even arguing that these abortions offer a "backdoor to eugenics".

In societies where abortion has been illegal or discouraged, decisions around genetics and reproduction are made earlier in the process of family formation, and often more communally. That was precisely the case with beta thalassemia, another recessive genetic blood disorder, in Cyprus. In the 1960s, up to 80 babies with the condition were born there each year, and in the 1970s, local physicians began to strongly encourage carrier screening, counselling and prenatal testing, eventually pressuring the Cypriot Orthodox church to mandate premarital screening certificates. In 1986, the number of babies born in Cyprus with beta thalassemia dropped to zero.

But the Cypriots in this example were a relatively small, homogenous community. In Nigeria, the citizens of a massive, multi-ethnic democracy have formed their own notions of genetic responsibility. In 1986, Olufemi Akinyanju, the haematologist who founded the Sickle Cell Foundation Nigeria, trained the first genetic counsellors in Lagos. Today, more than 500 genetic counsellors trained by the foundation work in a number of African countries where SCD is prevalent. They are the tip of an iceberg that includes public health campaigns, widespread testing and rising awareness of SCD in popular culture. ("Sickle cell been show me crises," the Afropop singer Adekunle Gold sang in last year's single 5 Star. "I will never forget the 90s / Many nights I go dey beg for mercy.") The counsellors are instructed to be "non directive": they can provide information, but do not compel specific action, and they should especially avoid discouraging marriage or procreation. Their training manual advises them to avoid phrases like "if I were you" and "I'm terribly sorry for you".

Though statistics are scarce, Nigerian experts working on SCD believe the number of cases has fallen in their country, especially in urban centres. But the uptake of testing and shift in social norms has been polarised along socioeconomic lines. Fewer children in middle- and upper-class homes seem to be born SS, observed Toyin Adesola, the executive director of an SCD advocacy organisation. That means the disease is slowly concentrating in poorer communities. In Kano State, part of the less- developed, Muslim-majority north, prevalence of the sickle cell trait has been reported to be as high as 41%, compared with about 25% nationwide.

"We don't see eradication as the goal, at least for now," said Annette Akinsete, the national director of the Sickle Cell Foundation Nigeria. Instead, she hopes to see more widespread newborn screening so that patients can get a head start managing the condition, as well as free or subsidised antibiotics and supplements.

Today, the average survival age for someone with SCD in Nigeria is likely under five, because of the high infant mortality rates in poor regions. But a middle-class Nigerian patient with access to resources, especially in Lagos, has a "very good chance" of managing their condition into adulthood, says Akinsete. Most Nigerian medical professionals don't see their goal as zero future SCD cases, but somewhat fewer of them, and a higher quality of life for those born with the condition.

In high-income countries, meanwhile, the median survival age for a patient with SCD has risen to between 40 and 60 – more than double what it was in the 1970s. In these countries today, pregnant women can easily find out whether their unborn child has cystic fibrosis, fragile X syndrome, spinal muscular atrophy, or many other conditions. And almost anyone, whether or not they have thoughts of parenthood, can get a basic genetic profile in a matter of weeks; for about £129, 23andMe can detect your carrier status for more than two dozen conditions – and also estimate the likelihood of someday developing breast cancer or Alzheimer's. Without public health initiatives, it's unlikely that these advancements will dramatically reduce the prevalence of any particular condition. They will, however, put more people in positions like that of Nkechi and Subomi: having genetic information in the back of their minds while dating, falling in love and starting a family – and deciding whether they're willing to intervene on the basis of that information.

Momo grew the same whorled hair on his head that Nkechi has on her arms, but he had Subomi's dark complexion, slim feet, dark lashes and occasional indignant frown. He cheerfully moved from lap to lap at church and was sanguine when Nkechi left him with his aunt, who disciplined him alongside her own children. He turned two without another crisis. Nkechi decided to bring him to see her family in Mbaise for Christmas in 2018. Subomi stayed in Lagos to celebrate with his mom and sister.

When Nkechi got home, she noticed something on Subomi's leg: a yellowing ulcer, the size of a grape, over his left ankle. "Come on, man," she said. "I leave you for a week and this happens?" It was nothing to worry about, he protested. It didn't even hurt. Leg ulcers are relatively common in adults with SCD. But the ulcer soon expanded to the width of a lime, and then Subomi's feet started to swell. In February, a pinprick-size ulcer opened up over his right ankle, too. It grew into an equally large crater by Valentine's Day, when they could not make it out of the house for dinner.

On 21 February, Subomi woke up at about 5.45am, screaming in pain. A friend drove him to the hospital, where he was immediately admitted to the emergency ward. When Nkechi arrived an hour later, Subomi was on antibiotics and had his wounds dressed. His doctor told her that Subomi would be discharged in a few days. It could have been much worse, said the doctor, and they had brought him in at the right time.

The next morning, Nkechi woke up earlier than usual, about 5am. She called Subomi's nurse, and then his doctor, but neither picked up. She felt a surge of adrenaline. As if on autopilot, she put on a T- shirt and drove to the hospital. When she got there, the doctor told her that Subomi had suffered a sudden embolism in his intestine. He was dead.

Nkechi's ears started to ring.

"It can happen to anyone," the doctor continued. The direct cause, in Subomi's case, remains impossible to ascertain. Blood disorders like SCD are straightforward risks for blood clots, which are the primary cause of embolisms – but so are factors like age, certain medications and high cholesterol. Someone with an AA genotype could have suffered the same fate.

The details didn't interest Nkechi. Her husband was dead. The doctor started expressing his sympathy, but she cut him off. She told her family, who wailed at the news, and then returned home to tell Momo. Her heart was racing and her internal monologue ran on an obsessive loop: "Nkechi, what's your next move?" She was now a single mother, with a son who needed intensive medical supervision. Would she relocate somewhere – maybe California, where her brother lived? Would she stay where she was? Would she continue their business? There had to be a funeral next week.

Subomi was buried in Ijebu Ode, in front of friends who came from as far as Canada. Nkechi sleepwalked through it. None of her friends or family remember her crying.

Three months after his father died, Momo had a crisis. Nkechi noticed that he had suddenly become very quiet, and his stomach was unusually bloated. It was splenetic sequestration: when sickled cells trap excessive blood in the spleen. He stayed in the hospital overnight and received a blood transfusion. In 2021, Momo had another crisis – sepsis – and spent 10 days in the hospital on antibiotics. Nkechi's mother-in-law dropped in for a brief visit on the fifth day. Today, raising Momo is largely Nkechi's solo undertaking.

I met Momo shortly before his sixth birt...

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