There aren’t any perfect options for somebody like Imani Strong, who’s living with a disease that sends her to the hospital multiple times each year, but would face a one-in-20 chance of dying from the only known cure.
Imani, 10, has sickle cell disease, a genetic disorder caused when a person inherits one copy of a mutated gene from each parent.
Like a lot of kids, she loves basketball and dancing, but she has to pace herself in a way that most 10-year-olds don’t, and can’t play outside if it’s below 40 degrees or above 80 degrees because of the risk a flare-up. Friends don’t always understand why she needs to take breaks or frequently misses school because she’s in the hospital, she said.
“They don’t understand that I can’t play for hours without something hurting,” Imani said.
No matter how well she and her mom manage the disease, though, the odds aren’t in her favor. The average woman with sickle cell disease lives only into her late 40s, and men often only reach their early 40s.
A new initiative at Children’s Hospital Colorado focused on blood disorders, including certain cancers and genetic conditions like sickle cell disease, is trying to change that by raising money to support research.
Some medications are available to reduce the symptoms of sickle cell disease, but the only cure that’s approved in the United States is a bone marrow transplant, and there’s a roughly 5% of dying from treatment complications, said Dr. Chris McKinney, a pediatric hematology oncologist at Children’s.
Children’s and other hospitals are participating in a study testing a gene therapy treatment approved in Europe, but otherwise there have been few new options for patients since the first drug to reduce symptoms was approved in the 1990s, he said.
Normal red blood cells are round, but sickle cells are shaped like crescents and can clog up tiny blood vessels, causing severe pain and eventual organ damage. People with only one copy of the mutated gene typically don’t have symptoms, so parents likely won’t know their kids could be at risk unless they’ve had genetic testing. About 100,000 Americans have the disease, according to the Centers for Disease Control and Prevention, and more carry one gene for it.
Sickle cell disease hasn’t been a high priority for either public or private research dollars. The National Institutes of Health provided more than three times as much funding per patient for cystic fibrosis, a genetic disease that also shortens patients’ lives, than for sickle cell disease, and private donors gave more than 75 times as much per patient between 2008 and 2017, according to an article in the Journal of the American Medical Association.
Right now, the main frontier is gene therapy, which involves removing some of a patient’s cells, replacing the mutated gene with a healthy copy and infusing them back into the patient’s body, McKinney said. It’s still under study, but could be an option for patients who don’t have a relative who can donate and don’t match with someone on the National Bone Marrow Donor registry, he said.
If approved, it’s likely to be expensive, though, and it still requires chemotherapy to kill the unhealthy bone marrow before returning the altered cells.
In many cases, parents have to make the decision of whether to take the risks associated with a transplant before their children reach their teen years, because as kids grow up, they accumulate more organ damage that a transplant can’t reverse, McKinney said. The disease can cause strokes, as well as damage to the lungs, heart, spleen, kidneys and eyes.
“Any organ system in the body can be damaged,” McKinney said.
Imani’s mom, Tristanda Hill, doesn’t sugarcoat the difficulties, like her daughter’s vulnerability to infections. If Imani were to get COVID-19, she’d likely need to be hospitalized, Hill said.
In some ways, though, the pandemic has made it easier to explain to people that they need to be particularly cautious about germs, she said. They’re planning to continue learning online, even when Denver Public Schools resumes in-person sessions.
“If kids are going to school sick and she gets sick, that’s a hospital stay,” Hill said.
Hill’s unsure about whether they should take the risk of a bone marrow transplant, though, and in any case, her insurance company has decided Imani isn’t sick enough to qualify at this point. She’s hoping research will yield a less-risky cure before Imani starts experiencing more long-term damage.
In the meantime, many patients have to rely on finding a matching bone marrow donor, ideally a sibling, McKinney said. If a patient doesn’t have a relative that matches, they have to hope for a close-enough match on the donor registry, and the groups most affected by sickle cell disease are less likely to have a match, he said. Most Americans with sickle cell disease have African ancestry, though people with ancestors from Latin America, the Mediterranean and southern Asia also are at risk.
“We would love to have more donors of color in the registry,” he said. “Historically, this is an underserved population that this affects.”