Today, about 100,000 Americans live with sickle cell disease. But there was a moment in the early 1970s when it seemed it was going to be wiped out.
The inherited blood disorder mostly affects people of African descent, as well as Mediterranean and South Indian peoples.
American civil rights organizations had been calling for greater attention to sickle cell anemia throughout the ’60s. President Richard Nixon singled it out in an address to Congress in 1971, and research funding was increased fivefold.
Yet the result was what Boston pediatrician and sickle cell specialist Patricia Kavanagh called “the poster child of what not to do” when it comes to public health.
What went wrong, and what are the consequences?
I started by talking to a family living with sickle cell disease, the Alstons, in Philadelphia.
The first thing to know about this disease: It hurts, a lot.
“Sickle cell pain, it’s kind of like tiny, micro-razor blades,” said Nazir Alston, who has sickle cell disease.
“Imagine like razor blades or sandpaper, just going back and forth, massaging your body in one spot.”
The painful episodes people with sickle cell disease experience are called crises. They arise when sickle-shaped blood cells clump up and block blood flow in very tiny blood vessels. The pain can last several days.
These crises would put Nazir in the hospital up to 20 times a year. Robert Alston, Nazir’s father, remembered the pair trying to get home after a late-night discharge when Nazir was a teenager.
“That was the first time for me as a parent that I was not able to get him home, because the day before I blew the engine in my car, just a day before,” Robert said. “I just decided, you know, I looked at him and decided we’re going to do something about this.”
An amateur documentary, “The Incomplete Cell,” came out of the Alstons’ frustration and wish to have others better understand their struggle.
It features interviews with sickle cell patients and advocates. The Alstons produced it on their own. They threw a party to fund it. All to get the word out about sickle cell.
“I wouldn’t wish this disease on my worst enemy because it’s so hard as a parent to watch your child struggle with this pain,” said Robert Alston. “You just have to sit there and just wait for the pain levels to go from a 10 to a two or three.”
- A screen capture from “The Incomplete Cell,” a sickle cell anemia documentary made by a father and son living with the consequences of the disease. (Courtesy Robert and Nazir Alston)
Robert hadn’t heard of sickle cell trait until his son was born with sickle cell disease in 1998. Robert said he wishes he had.
“At least it would have opened up a dialogue, you know?” he said. “When you start dating and say, ‘Look, I live with the trait. I was just wondering, you know, do you have the sickle cell trait?’ Knowledge is power.”
The Alstons aren’t the first to think of this — screening for carrier status as part of family planning.
Linus Pauling’s idea
Back in the 1950s, Nobel laureate and American chemist Linus Pauling advocated for something like genetic counseling for African-Americans.
Pauling discovered the root of sickle cell disease — a difference in the chemical structure of sickle cell patients’ hemoglobin.
Pauling is the only person in history to have won two unshared Nobel Prizes, and he spoke often to a wide variety of audiences.
“Here you have 1,500 children born a year with this disease and doomed to a pretty poor life,” Pauling said in one such lecture in 1970.
His sickle cell discovery came in 1949. And by the ’70s, Pauling’s push for sickle cell trait screening had hardened, approaching flat-out eugenics.
“We suggest that every young person have this genotype tattooed on his forehead, so that young people would recognize at first sight if they were incompatible in this way,” he said during a 1970 lecture.
When he said, “young person,” it’s understood he meant young black person. In a press release, President Nixon’s press release had actually wrongly described sickle cell as a disease that “strikes only blacks and no one else.”
That idea — that the illness was unique among black people — was and remains a widespread misconception.
“If they marry one another, a quarter of their children will inherit these two genes and will be grossly defected, be grossly ill, will die young, suffer and die,” Pauling told one audience.
- Linus Pauling, professor at the California Institute of Technology, examines a molecular model in his laboratory in Pasadena, Calif., on May 12, 1952. (AP Photo)
Pauling perhaps didn’t actually want carriers to get tattoos. His biographers say he was joking. But he and other scientists of his era did push for mandatory screening programs, that is, actual laws forcing African-Americans to get tested.
“We say this chance, 25 percent chance of giving birth to a defective child, is too large to allow a combination of ignorance and free enterprise in love to take care of the matter,” Pauling said.
In the ’70s, 12 states and the District of Columbia passed the sort of laws Pauling had been talking about. In some cases the laws targeted black people. In New York, for instance, premarital testing was mandatory statewide, but schoolchildren were tested only in urban areas.
To end human suffering
It’s not clear whether Linus Pauling or any other scientist’s lectures swayed lawmakers. But these sort of talks came during a time when people listened to scientists.
Medical historian Melinda Gormley says World War II had made them authorities, saviors even.
“The scientists were seen as having made the bomb that stopped the war,” said Gormley, a medical historian who pieced together a narrative of Pauling’s work. “And there were also, though, a lot of other things that happened during World War II that made science and medicine seem to have all the solutions to all the problems.”
But what really got Pauling on stage was atomic weapons, Gormley said. Most people didn’t understand the technology. He did.
“He almost immediately after the bombs were used started giving talks about how the bomb function,” Gormley said.
Pauling spoke at banquet halls and theaters. Local chapters of the Elks Club would invite him. He spoke so widely because of his deep convictions against nuclear weapons. His second Nobel Prize was the Peace Prize, for his work on disarmament.
Alongside his nuclear talks, sickle cell would come up. For Pauling, both boiled down to human suffering, Gormley said.
“There’s a lot of human suffering in the individual who has sickle cell anemia, but also the parents who watch their child have a disease and suffer from one of these molecular diseases and then possibly even die from it,” she said. “So for him, a lot of times it’s about the human suffering and how do you decrease the amount of human suffering.”
Mandatory screening was applied on a mass scale, but his biographers say for Pauling it was about individuals in pain — sickle cell patients and their parents.
It all went wrong, though.
For one thing — there was a lot of misinformation, said Patricia Kavanagh, the Boston pediatrician who specializes in sickle cell.
“Imagine you’re a mom and your child was screened in school because that’s one of the places where there’s screening,” Kavanagh said. “She comes home, [told that she] has sickle cell trait, she goes to her doctor, and the doctor says, ‘Your child won’t live to see her 20th birthday.’ ”
That’s not true, Kavanagh explained: People who are sickle cell carriers — who have sickle cell trait — don’t actually have symptoms or experience adverse health effects long term. But many were misdiagnosed as having sickle cell disease.
Sickle cell is rare, and most people, even a lot of doctors, didn’t understand it.
And remember President Nixon saying sickle cell “strikes blacks and no one else?” Targeting people with sickle cell became a way to target African-Americans without explicitly doing so on the basis of race.
“There was discrimination in employment, so people were losing their jobs or not being hired because people were afraid that they would hire them and then they would get sick,” said Kavanagh. “It backfired. It was devastating for many.”
A program intended to help the black community ended up doing the opposite, and there was a complete loss of trust. What was left was fear, of doctors, of the government, of science. And then there was a gap — 10 to 15 years without any kind of mass screening.
Robert Alston, who made the sickle cell film with his son, was born during those gap years, which may be part of the reason he didn’t know he was a sickle cell trait carrier.
Today, there is universal newborn screening, but most carriers of the trait still don’t know they’re carriers.
Part of the problem, Kavanagh said, is that parents are told that their infant is a sickle cell carrier only once, near the one-month mark. And often, she said, they’re told not to worry about it because there are no symptoms. Often, it just never comes up again.
Kavanagh and her colleagues call sickle cell screening a neglected opportunity. Using the example of Tay-Sachs, she explained why: Tay-Sachs is also an inherited disease. And it also mainly affects a minority group, Jews. The Tay-Sachs screening effort was led by a rabbi, from the community level — the exact opposite of the top-down, government-mandated testing for sickle cell.
“When you look at Tay-Sachs disease, you know, there’s a 90 percent reduction in the United States and Canada since the early 70s to today,” Kavanagh said. “Sickle cell, as far as we can tell, has not changed.”
So all that money, all those laws, they didn’t move the needle at all. The disease continued through the generations.
You can find the Alstons’ documentary on YouTube. They made it to get the word out about this disease. It’s more home movie than Home Box Office — a father and son with a camera, learning as they go. But their effort is in line with what Kavanagh said was missing in the 1970s: education, and community involvement.
Those two elements, she said, could have changed the story of sickle cell disease.