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It’s a classic puzzle presented to genetics students. How can a disease that often kills people before reproductive age — a disease like sickle cell — persist in a population?
The answer is that those who inherit one copy of the sickle cell gene mutation are somewhat protected from malaria. The gene gives them a selective advantage in places like Africa, where malaria is rampant. But those who inherit two copies of the mutated gene have a disease that, without modern medical care, can kill people in childhood.
I had always been fascinated by this aspect of the disease, but it was not until December 2018, when my editor on the Science desk, Celia Dugger, asked if I’d write about the sad history of neglect that has followed sickle cell for decades, that I came to truly understand it.
I spoke with scientists whose decades of underfunded work finally showed a way to correct the disease, in which deformed red blood cells cause great pain and complications. I talked to doctors who were heartbroken when the few treatments that could help — but not cure — patients were underused. And I met patients and their families whose poignant stories stayed with me.
But there was a ray of hope. Researchers and scientists had finally found a way to make gene therapy safe enough for testing.
In 2018, when my reporting began, the National Institutes of Health was starting a program called the Cure Sickle Cell Initiative, meant to spur the development of gene therapies. A biotech company, Bluebird, was in the earliest phase of a gene therapy trial, hoping to develop a cure. So was Boston Children’s Hospital, which was beginning its own gene therapy trial.
Then the biotech companies Vertex and CRISPR Therapeutics jumped in with a trial of their own. Their gene therapy is expected to be approved by the Food and Drug Administration on Dec. 8. If it is, it would become the first curative therapy for this disease. Bluebird’s gene therapy is expected to be approved this year, too.
For many of the patients I have met over my years of reporting, a cure cannot come soon enough. Interviewing them in hospitals and at their homes, I saw them bravely clinging to hope.
Only a few measures can help with sickle cell, and all too often patients do not get them or the interventions they do get are woefully insufficient. One is a simple ultrasound that detects whether a child with sickle cell is at risk of having a stroke. Once identified, the child gets regular blood transfusions that slash their risk of a stroke by 90 percent.
Dr. Robert Adams of the Medical University of South Carolina was inspired to developed the test 30 years ago as a young faculty member in the university’s neurology department. One night, a 3-year-old boy with sickle cell was admitted with a major stroke.
“I tried to explain to this mother why her beautiful son had this terrible stroke,” Dr. Adams told me when we spoke for an article in 2020. “I tried to prepare her,” he said, adding that the boy, “had no chance to survive.”
He proved the effectiveness of the ultrasound stroke screen in 1998. And though the screening can identify who is at risk, most children still do not get it — often parents do not understand its importance or doctors do not mention it as an option.
While reporting on this tragic situation I met two teenage sisters with sickle cell, Kami and Kayla Crawford. Their mother, Dana Jones, didn’t know about the test until after both of her daughters had strokes that left them with learning disabilities.
Another treatment, hydroxyurea, is an oral medication that can reduce the number of episodes of excruciating pain. Most do not take it — many don’t know about it or have been misinformed about its side effects. Patients and parents told me it is no panacea.
I spoke to Braxton Hubbard of Evanston, Ill., who took hydroxyurea but still had multiple incidents of nearly immobilizing searing pain. He had hoped to be among the first to have Bluebird’s experimental gene therapy. But just as he was about to begin, the trial was put on hold. He finally got the treatment in 2021 and was cured at age 27, the same age his older brother Brandon was when he died of sickle cell.
For the first time, Mr. Hubbard told me, he could think about his future and what he wanted to do with his life. Before, he said, “I didn’t think I would have a life.”
While Bluebird’s trial stalled, I approached Boston Children’s Hospital, asking if I could follow a patient in its gene therapy trial. That’s how I met Helen Obando, 18. She told me she’d never thought she would be normal. She tried to hide her disease from most people she knew; she became so shy that she was almost reclusive. A year after we met, Helen’s mother, Sheila Cintron, echoed Mr. Hubbard when she summed up the change in her daughter.
“Now she can have a life,” Ms. Citron said. “She never did before.”
If the F.D.A. approves the CRISPR gene-editing treatment next month, I know where my reporting will take me. How will doctors choose whom to treat first? Will the daunting cost of a cure scare families away? What risks come with the first treatment of its kind?
Those questions will matter, because there are many patients waiting desperately to have a life, still fueled by hope.
