Publisher Health

No doctor ever counseled Lametra Scott and her husband, Rickey Buggs, to get a simple blood test that would have warned them they each carried a mutated gene that — if inherited from both — would cause sickle cell disease in their baby.

It was only after a routine blood test around week 16 of her pregnancy that she learned she had the gene. Mr. Buggs, honorably discharged from the Marines around the same time, was informed upon leaving that he, too, was a carrier.

They went forward with the pregnancy, hoping their baby would be spared, but luck was not with them. Rickey, his father’s namesake, was born with sickle cell, a blood disorder that would cause him searing pain throughout a life likely to be cut short by the disease.

“At that moment, my life changed forever,” said Dr. Scott, 40, a pharmacist in Nashville who is director of pharmacy for the Tennessee Department of Correction.

Rickey, now 9 years old, has frequent episodes of intense pain, usually in his shins. Stiff, sickle-shaped red blood cells get caught in his blood vessels, blocking the flow, damaging their linings and causing pain because cells are deprived of oxygen-carrying blood.

His mother massages his legs with oils, applies heating pads, gives him pain relievers and takes him to the hospital when the pain is unbearable, and she tries to instill him with the resolve to be strong and take each day as it comes.

But she’s haunted by a question: What if she’d known before she got pregnant that her child might be born with sickle cell?

About 100,000 people in the United States have the disease, which mostly affects Americans of African descent, but also people of Hispanic, Indian and Mediterranean ancestry. Yet few of the couples at risk for having babies with sickle cell know it.

A person who inherits the mutated gene from just one parent has what is called sickle cell trait, not the disease itself. But if both partners in a couple have the trait, there’s a one in four chance that their baby will inherit it from both of them and have sickle cell disease.

There is no routine testing of adults for the trait. Medical science is fast approaching a cure for the disease — one that would almost certainly cost more than $1 million per person — but the fractured American medical system does not ensure that parents-to-be get a simple, inexpensive blood test that would inform them if they carry the sickle cell trait.

“In my view, sickle cell represents the worst and best of health care,” said Dr. Elliott Vichinsky, a sickle cell expert at the University of California, San Francisco. “We have developed new therapies and molecular testing, but people don’t get them.”

Dr. Michael R. DeBaun, Rickey’s doctor, who heads a center for sickle cell treatment and research at Vanderbilt University, said that to his knowledge, “none, I mean none of the quality measures in U.S. medicine address the concept of preconception genetic counseling as a metric of standard care.”

Guidelines from the American College of Obstetricians and Gynecologists say couples planning to have a baby should be tested for the sickle cell genetic mutation, but Dr. Steven Ralston, chief of obstetrics at Howard University and past chairman of the group’s committee on genetics, said testing before pregnancy was rarely done.

“Part of it is an educational problem,” he said. “The guideline hasn’t trickled down to people.”

The U.S. Preventive Services Task Force, an independent panel of experts that advises the federal government on screening tests and services to prevent disease, has never considered sickle cell. The chairman of the task force until last spring, Dr. Doug Owens, chairman of the department of health policy in the Stanford University School of Medicine, explained in an interview that it studies only diseases nominated for consideration by a member of the public. Yet, though screening for sickle cell trait “is a very important topic,” Dr. Owens said, it had never been nominated.

Sickle cell experts say what happened to Dr. Scott and Mr. Buggs was an outrage that is still all too common.

Dr. Scott’s obstetrician suggested the couple see a genetic counselor well into her pregnancy, after learning they both had the sickle cell trait. Dr. Scott declined. She was in the medical field and believed she had only two options — to continue the pregnancy or have prenatal testing and abort if the baby had the disease. She and Mr. Buggs decided to take a chance.

Their lives would have been so different, she said, had they known they were carriers of the trait before she got pregnant. They could have chosen to adopt or not to have children.

And there was a third choice: preimplantation genetic diagnosis. Her eggs would have been removed from her ovaries and fertilized with her husband’s sperm. But only embryos that did not carry the mutation would have been implanted in her womb.

The procedure typically costs tens of thousands of dollars out of pocket. Yet the lifelong costs of medical care for a person with sickle cell are over $2 million, according Dr. Scott Ramsey of the Fred Hutchinson Cancer Research Center, whose federally funded study of the costs of sickle cell care is now under review at a medical journal.

“I would have had preimplantation genetic diagnosis,” Dr. Scott said, “hands down.”

How Can I Help My Child?

Dr. Scott and Mr. Buggs were in shock when they learned their baby had the disease. She turned to Facebook, looking for support groups.

“People were always in the hospital, always dying,” she said. “My baby is only a couple of months old. Is this what is going to happen to him?”

“I started praying really, really hard,” she said.

She and her husband have devoted themselves to caring for Rickey. Sickle cell is a way of life for him — he can’t even remember when he first realized he had it. His mother coaches him to live each day as it comes.

“I tell him, ‘You can be your own spokesperson and tell your own story,’” she said. “If your mind is in the right place, you can get through everything,”

“I can still have fun,” Rickey said on a recent Sunday afternoon.

His passion is video games. His shirt bore a slogan: Due to Video Games, Sleep is Canceled. He patiently sat through an interview, waiting for the moment when he could run upstairs and play Fortnite.

His parents want Rickey to have a normal childhood, but after consulting with Dr. DeBaun they decided soccer was too risky. He wanted to swim, so Dr. Scott found places with heated pools and bought him a wet suit because cold can bring on pain crises.

His parents hope he will be free of sickle cell one day.

“I know that in his lifetime there will be a cure,” Ms. Scott said. “I am praying it will be before he turns 21.”

A Fraught History of Racism

It sounds so obvious. Why not just test all adults for the sickle cell trait? But it’s anything but simple. In the United States, Black people with the trait have faced discrimination.

As recently as the early 1980s, people with the trait were barred from the Air Force Academy and charged much higher rates for life insurance.

Even Linus Pauling, who famously discovered that sickle cell was caused by the substitution of a single amino acid in the globin protein, was part of this dismal history. He proposed that young people with the trait have that information tattooed on their foreheads, saying he wanted to make sure they were identified and choose not to have children or to have abortions if their baby would have sickle cell.

“Genetic counseling, difficulties with insurance coverage, and employment restrictions raised the specter of discrimination, racism and even accusations of genocide,” said Keith Wailoo, a historian at Princeton University.

The fraught history of the disease in the United States has complicated efforts to devise a public health strategy to test and inform those who have the trait.

Routine genetic tests of newborns detect not just sickle cell disease but also sickle cell trait. If a baby has the trait, that means at least one parent has the mutation. Both parents should be counseled and tested to see if future children are at risk of having sickle cell disease.

But it is up to each state to decide what to do with the newborn screening results. Practices vary — greatly.

Most states’ guidelines say the baby’s pediatrician should be told if the child has sickle cell trait — but the information chain can end there.

Often, especially in big cities, said Dr. Kwaku Ohene-Frempong, president of the Sickle Cell Foundation of Ghana and an emeritus professor at the University of Pennsylvania, the baby is cared for in a public health clinic with no assigned pediatrician at birth. Test results are noted in the mother’s chart, with no follow-up.

And despite the guidelines, pediatricians may not be informed, said Mary Brown, president of the California Sickle Cell Disease Foundation. The test results “might just sit on a shelf,” she said.

There was a moment in the early 1970s when the Black Panthers made sickle cell part of their drive to improve health care for Black people. Testing was controversial but, noted Dr. Wailoo, the Panthers emphasized Black pride and self-sufficiency. Testing for sickle cell trait fit their mission, along with tests for high blood pressure and elevated levels of lead in the blood.

Bobby Seale, Black Panthers chairman in 1970, instructed the group’s chapters to open health care clinics. There was a major effort in Oakland, Calif., staffed by volunteers, doctors and nurses. Clinics were held on the streets in good weather and in Panthers offices when it was bad, said Jamal Joseph, a former Panthers lmember who is now a professor of professional practice at Columbia University School of the Arts.

The volunteers counseled people who had the trait that “if they were dating or married that should be something they should consider,” Professor Joseph said.

That focus on sickle cell disease is long gone, Dr. Vichinsky noted.

In California, for example, the state asks the pediatrician in the hospital to inform the family their baby has the sickle cell trait and to provide contacts for the Sickle Cell Disease Foundation of California, the only group authorized to provide counseling. Then, said Deborah Green, a program administrator at the foundation, “it is on the parent to follow up.” The state’s confidentiality laws prohibit the foundation from contacting the parents.

“The assumption is that people who get the letter understand the letter,” Ms. Green said. “People may not even get the letter.”

Dr. Richard Olney, head of the foundation’s genetic disease screening program, said that when parents do not contact the Sickle Cell Disease Foundation, the state sends a second letter telling them again that their baby has sickle cell trait and, once again, giving them the telephone number for the Sickle Cell Disease Foundation of California.

But, he said, only about 10 to 15 percent of the 5,000 families notified each year call for counseling.

‘I Feel Like It’s a Ministry’

She got the idea from the mother of Rickey’s best friend, who asked her: Have you ever thought about forming a sickle cell foundation?

That passing suggestion got Dr. Scott thinking about how she could help people learn from her and her husband’s experiences, both about the need to get screened for the sickle cell trait before conceiving a child and the full range of choices if both partners carried the mutation.

And so in 2015 she started a nonprofit, Breaking the Sickle Cell Cycle. Her husband, a technology consultant, helped her plan and market events.

“You never know what you can do until you jump in and do it,” Dr. Scott said.

It’s an all-volunteer effort run on a shoestring, and she takes little Rickey with her whenever she can. She visits churches, colleges, schools and health fairs to spread the word.

Dr. Scott said she recognized her foundation’s limitations, but cherished small victories.

She raised money to help a woman caring for her 14-year-old nephew who had sickle cell. He wet his bed at night because sickle cell damaged his kidneys. His aunt did not have a washer or dryer and “was washing sheets all the time,” Dr. Scott said.

Dr. Scott got the family supplies of Depends, sheets and cleaning items.

Dr. DeBaun, Rickey’s doctor, calls Dr. Scott “an army of one.”

“The effort is important,” he said. “But it’s a lonely job for a mother focused on changing health care delivery for a rare disease, particularly a rare disease that disproportionally affects African Americans.”

Dr. Scott regularly takes her son, Rickey, with her on her travels to educate the public.

“People think it’s all gloom and doom,” she said. “I want him to be an advocate and to speak up and encourage others in his own little way.”

“I feel like it’s a ministry,” she said. “If I only make a difference in one person’s life, I will have changed a whole generation.”