Medical care for people with sickle cell disease, especially adults, is often deeply inadequate. Patients face physician shortages, limited treatment options, and emergency rooms that treat them like drug-seekers rather than people in desperate need of pain management.
But the numbers don’t lie: Things are getting better in real ways for many people with SCD. Life expectancies for patients in the U.S. have risen sharply. People who once had little hope of seeing age 20 are living into their 50s and beyond.
In Michigan, public investments are helping launch a new clinic that will provide high-quality care to adult patients, an especially underserved group. Pharmaceutical companies that long ignored the sickle cell community have sprung into action, enticed by new federal support for rare-disease drug development. More sickle cell-specific medicines were brought to market in the past ten years than in the previous 50.
This story is the third in a series about Detroit’s sickle cell community in the gene therapy era. See more from What the Cure Doesn’t Fix here.
Dr. Wanda Whitten-Shurney, who for decades was a pediatrician specializing in sickle cell at the Children’s Hospital of Michigan in Detroit, knows many of the people living with sickle cell in the city and the immense obstacles they face.
These patients are living “longer and longer, but not better and better,” said Whitten-Shurney, CEO and medical director of the Sickle Cell Disease Association of America Michigan Chapter.
Here are a few of the strategies the medical community can double down on to capitalize on recent progress and help reverse decades of medical inequity.
A medical home base
Just about everyone with sickle cell disease can tell you about an emergency room ordeal or three. Patients are commonly hospitalized for treatment and observation when their crescent-shaped red blood cells jam up their veins, an excruciatingly painful and dangerous phenomenon known as a sickle cell crisis.
Before they’re admitted to the hospital, though, patients typically go to the ER, where wait times are long and doctors are less likely to be familiar with the nuances of sickle cell care. The result may be emotional distress for patients or, in some cases, dangerous outcomes.
“One of the worst places for our patients is the emergency room,” Whitten-Shurney said.
Keeping sickle cell patients out of the ER is one of the goals of a new sickle cell clinic for adults at Henry Ford Hospital in Detroit. The clinic, which started this year with the help of $5 million in state funding, will offer patients an array of supports, eventually including dedicated beds where patients can receive IV pain medication or blood transfusions during the day — treatments they’d typically receive at the ER.
Rather than require adult patients to track down the specialty care and support they need, the clinic brings it to them.
Nurses who work exclusively at the center are a first point of contact with patients, helping to organize their care and build trusting relationships. The clinic doesn’t have a dedicated space yet — that’s likely coming next year at the main hospital.
The center is hiring a social worker to help patients navigate the medical system and a physical therapist and a yoga therapist to help them manage pain.
An anesthesiologist visits the clinic regularly to help patients develop a pain management plan. That can help them avoid some of the negative side effects of opioid painkillers, which are a standard tool for treating sickle cell pain.
Lung and kidney specialists regularly consult with clinic patients to help them manage the organ damage that is a recurring risk of the disease.
The clinic was serving 180 people as of June, with plans to expand “rapidly” in the next year, according to Dr. Asif Alavi, a hematologist who is heading the new center. About 4,000 Michiganders live with sickle cell disease, most of them in the Detroit area.
“The major limiting factors are just staffing and space,” he said. “We have a lot of people who want to come to the center. We want to make sure we provide very, very high-level comprehensive care. And so we’re making sure that we can accept patients in a way that we can provide that.”
This model of comprehensive care is similar to the one in use in the pediatric sickle cell center at Children’s Hospital in Detroit, which serves roughly 600 active patients. Specialty clinics for sickle cell patients have operated for years in cities such as Cleveland, Philadelphia and Pittsburgh.
But it’s long been a missing link for adult patients in Detroit. Whitten-Shurney, whose nonprofit is working with Henry Ford to establish the center, said she hopes that every adult living with sickle cell in Michigan will eventually visit the clinic once a year for a comprehensive evaluation, and will lean on the center for help coordinating their care throughout the year.
If the center can expand sustainably, “Michigan would be a good place to move if you have sickle cell disease,” Whitten-Shurney said.
Better blood tests
As a pediatric ICU physician in the early 2000s, Dr. Patrick Hines was used to solving health problems.
So he was beside himself when he realized that he could do very little to help a 3-year-old patient with sickle cell disease who suffered a stroke. Making matters worse, blood disorders like sickle cell were his area of specialty. He knew enough to know that better treatment options were possible.
“It was literally unbearable,” Hines recalled. “I just was not patient enough with the academic pace of science, to know what I knew, to see what I was seeing in the ICU setting, and to just sit on it.”
Almost all of the promising strategies laid out in this story apply to patients in the U.S. But the vast majority of sickle cell patients in the world live in Africa and India. For the cost of developing gene editing treatments that remain inaccessible to the vast majority of patients, humanity could have transformed many more people’s lives by providing hydroxyurea, the best available drug for fighting sickle cell, to people there who can’t afford it.
Today, Hines is founder and CEO of Functional Fluidics, a Detroit-based company that develops blood tests to predict the likelihood of severe sickle cell symptoms — a luxury that most patients today don’t have.
Treatment for people with sickle cell often hinges on a measure of their hemoglobin, a protein that allows red blood cells to carry oxygen throughout the body. Low hemoglobin levels are commonplace in these patients, a sign that their red blood cells are breaking down too quickly.
But hemoglobin is a rough measure. It doesn’t tell doctors whether a person is at risk of future dangerous complications or hospitalizations.
Functional Fluidics’ tests can deliver that information, according to peer-reviewed studies performed by the company. Currently, their customers are mostly large health care facilities and clinical trials, which use the tests to measure whether new treatments are reducing patients’ symptoms.
Hines is still working to raise money and clear regulatory hurdles that would allow for wider use of the tests. If patients are deemed to be at high risk based on test results, for instance, doctors might suggest trying new or additional medications.
These tests “can enable a preventive care model where we can keep patients healthy as opposed to just reacting,” Hines said.
Improving transplant access
Sickle cell disease is curable through bone marrow transplants. This grueling, risky procedure is neither accessible, appropriate nor appealing to most patients.
Doctors insist that quality care for sickle cell patients means keeping this option on the table. But for many years in Detroit, it wasn’t an option, practically speaking.
Detroit is the second-largest majority-Black city in the country and a major sickle cell community, yet Alavi says there has been only one person with sickle cell cured via transplant by hospitals in the area in the past five years.
“When I came to Detroit in 2015 with an interest in doing … transplants for sickle cell disease, I realized that (transplant has) really not had a strong history here in Detroit,” he said.
But new technologies and procedures, along with improvements in basic care, appear poised to make the cure a real option for more Detroiters.
Larenz Caldwell spent much of his teenage years in the hospital for sickle cell crises. He received frequent blood transfusions and was prescribed opioids to manage the pain that could become excruciating at a moment’s notice. Hospital stays robbed him of more than half of his junior year of high school.
Caldwell believed he was on the same track as his mother, Kristal, who also had full-blown sickle cell. She died of complications of the disease at age 48, the day before he graduated from high school.
Instead, at 19, he received a bone marrow transplant through a clinical trial at Vanderbilt University in Tennessee. Almost six years later, he has no physical symptoms of the disease.
Transplants require a donor, which many patients lack. But in Detroit, doctors had largely stopped checking to see whether patients might in fact have a sibling donor with a matching blood type — the ideal situation.
“In many other large cities around the country, you will see that children, for example, have all their siblings typed, you know, just so that people are aware about the possibility of a transplant,” Alavi said. “And that’s really not happening here in Detroit.”
Curative stem cell transplants remain a last resort. The procedure requires chemotherapy and a long hospital stay, and is typically only recommended to people with severe disease whose bodies are not responding to less invasive treatments.
Skepticism among patients is also high. For many years, the survival rate for transplant patients was estimated at 80%, and many in the Detroit sickle cell community know someone — or of someone — who died as a result of the procedure.
Quality adult care matters enormously for transplants, Alavi explained, because it builds trust and a track record. Doctors who get to follow their patients closely for years may feel more confident recommending a transplant, and patients may be more receptive to the idea.
In that situation, doctors can explain to patients, “‘We have these different therapeutic approaches, we also have transplant, so let’s begin to discuss (transplant) now and we can keep that in our back pocket,’” Alavi said. “And then, over the years, as you see how they respond to various therapies, if they’re not improving, then gene therapy or maybe a transplant becomes a more prominent option to treat their disease.”
Transplant options are improving and expanding. The disease-free survival rate for transplants has risen to nearly 95%, up from 80%. Caldwell received a transplant through a clinical trial that used updated procedures with an expanded donor pool and less chemo — his donor was his father, not a sibling. The trial was viewed as a major success, one that could expand transplant access across the world.
Meanwhile, new gene therapies were shown in clinical trials to effectively cure sickle cell disease by editing patients’ own stem cells, eliminating the need for a donor. Those trials drew national attention because one of the procedures, Casgevy, was the first treatment approved in the U.S. to use CRISPR, a Nobel Prize-winning gene editing technique that is sometimes called “genetic scissors.”
For now, this highly touted advance will likely be available only to a handful of patients, due to the high price and logistical and technical difficulties of the procedure.
But Alavi said news of these cutting-edge treatments is having an impact.
“Gene therapy definitely got the word out that we can cure sickle cell disease,” he said, adding that a growing number of patients are asking to be evaluated for transplant. “Things are changing very rapidly.”
