Sickle cell cure brings mix of anxiety and hope

Terry Jackson lives a life dominated by sickle cell disease. The genetic disorder, in which misshapen red cells become wedged in blood vessels, causes him daily bone pain and lower back pain and has sent him to the hospital for pain treatment and life-threatening emergencies for five decades. He has frequent transfusions of fresh blood.

“You can’t escape it,” said Jackson, who owns a science communication business. “It is life-changing. It is each breath you take.”

The disease has directed his every choice. It led him to get a doctorate in genetics from Duke University because he became fascinated with the science behind it. It is central to his identity.

“I ask myself, ‘Who am I without sickle cell?’ ” Jackson said, adding, “It’s hard to even imagine what I would do, what would I be, if I don’t have it any more.”

This year, Jackson and other people with sickle cell may have the option of finally living without the damage it causes. Two drug companies are seeking approval from the Food and Drug Administration for gene therapies that may provide what amounts to a cure. But the decision to take the medication — should it become available — is not so simple, it turns out.

Some like Jackson, who adapted to their illness, worry about what a new life would be like and are unsure of how to begin again as healthy people. Do they go back to school after dropping out because of their illness? Do they start looking for jobs after thinking that, with frequent hospitalizations because of sickle cell, they were unemployable? What if this new life is not so easy to enter?

Others fear that the logistical complexities of gene therapies may imperil their ability to access them.

These and other challenges illustrate an often hidden aspect of medical advances — a long-awaited cure can be accompanied by trepidation.

Sickle cell disease affects at least 100,000 people in the United States and millions worldwide. It mostly strikes Black and Hispanic or Latino people, but it also occurs in people with Mediterranean and Indian ancestors. People with the disease face searing pain, strokes, damage to tissues and organs and often death at an early age.

Two gene therapy drugs, one from Bluebird Bio and the other by Vertex and CRISPR Therapeutics, have been in clinical trials. Both efforts reported that patients were freed of debilitating episodes of pain. Their blood was no longer flooded with misshapen red cells.

“This is what science has been working toward for 50 or 60 years,” said Dr Lewis Hsu, chief medical officer at the Sickle Cell Disease Association of America and director of the pediatric sickle cell programme at the University of Illinois at Chicago.

Sickle cell leads to a steady drip of costs over a lifetime, affecting caregivers as well as patients and often limiting the incomes of both because of time lost from work or an inability to work. One report examined what private insurance companies paid and found that the lifetime costs of sickle cell were $1.7 million, including $44,000 that patients paid out of pocket.

That, patients and advocates said, does not begin to capture what sickle cell really costs. Ashley Valentine, co-founder of the national advocacy group Sick Cells, said she had to take three months off from work in 2016 to help her brother, Marqus, who had sickle cell. When he had a hip replacement in 2018, her father missed so much work to help care for Marqus that he accepted a layoff from his job. It affected her mother’s job, too.

“And that’s just us,” she said.

Marqus died in 2020, at age 36, from a stroke caused by sickle cell.

While costs like the ones Valentine described are spread out over a lifetime, gene therapy must be paid for all at once. Concerns about the high price of the treatment worry many people with sickle cell and their families.

The modified virus that delivers gene therapy is expected to cost at least $1 million, based on what other gene therapy vectors cost. But that is only part of the price.

Treatment starts with intense chemotherapy in a hospital to wipe the bone marrow clean, leaving space for genetically modified red blood cells that result from the treatment. Patients then spend about a month in the hospital waiting for the modified cells to grow. After they are discharged, the patients are immunocompromised for about six months while their immune systems recover.

Insurers are likely to pay for the part of the treatment that involves using a disabled virus to deliver the therapy. But whether they will pay for most of the chemotherapy, hospitalisation and other costs is uncertain. Patients worry about bills from hospitals and doctors. Even if it is mostly covered, copayments can be an issue.

Will wealthier people get the treatment while others look on longingly, patients ask?

And, independent of the cost, how easy will it be for patients and family members who assist them to take off a month or more for the treatment, often traveling to distant cities with medical centers that can administer the treatment? That could be a deciding factor for Doris Polanco, 36. She hates having sickle cell. She suffered so much in winter because cold brought on pain crises that she moved to Tampa, Florida, from New York in April 2021.

“I couldn’t even go to the grocery store,” she said. “It was like I had to hibernate.”

She would love to have gene therapy but recognises that it will be difficult to suddenly become a healthy person. “It would be insanely hard,” she said. However, she added, “I would embrace it.”

But she has other concerns, particularly about her 7- and 12-year-old daughters. The long hospitalisation for gene therapy followed by months of recuperation would be hard on them, she said.

“They are not babies, but they need me,” Polanco said.

Patients ask when in the course of the disease is gene therapy needed. If they wait too long, the disease can lead to a stroke or permanent damage to organs and bones. But if the disease is mild and manageable, is it better to wait? André Marcel Harris, 33, who lives in Houston, decided that waiting was his best option.

This article originally appeared in The New York Times