The Next Best Cure for Sickle Cell Disease? Overcoming Racial Stigmas

The careers of young physicians are molded during their residencies. Mine was formed in unexpected ways. As a student at Yale Medical School in the 1980s, I planned to launch a career in cardiology. But the things I witnessed as a resident working in emergency rooms altered that trajectory.

I witnessed the types of trauma cases you would expect to find in the ER: victims of car crashes, heart attacks, appendicitis. But the ER was also a place turned to by people who urgently needed help dealing with the pain and complications of sickle cell disease, a serious and rare blood disorder. Most of those people were Black, and they experienced multiple layers of trauma, both from the physical toll of the disease and the callous indifference they suffered by providers who would not take them seriously.

Providers and hospital staff were typically suspicious of the Black girls and boys and men and women who needed pain relief. If providers chose to admit them, they had no medicines to offer, only fluids. The contrast between their experiences and those with cystic fibrosis, another inherited rare disease that can require emergency care but mostly affects people who are white, was stark. Our therapeutic options for cystic fibrosis were also limited, but there were standard protocols for these patients. They were ushered to special wards staffed by doctors and nurses familiar with their condition. Their symptoms were never questioned. There was no shortage of compassion.

By one important measure, we have made tremendous strides in sickle cell disease care since my medical training days. Today, we have a small arsenal of medicines that can alleviate the symptoms of the disease – and even target its root cause. Despite these tremendous medical advancements, patients and their loved ones continue to come up against an unjust healthcare system.

Black physician parents insist on being addressed by the title “Dr.” when their children are seen, because they know how common it is for children to experience racism at the doctor’s office. By making clear that they themselves are medical professionals, they hope to help mitigate that racism.

It is not uncommon for patients – who are in agonizing pain – to dress up in professional attire to avoid being mislabeled as drug addicts when they ask for pain relief in emergency rooms.

People with sickle cell disease may have to wait up to 50% longer for care in the emergency room compared to other people, even after accounting for race. 

Earlier this year, a 12-year-old boy became the first person in the world to begin a commercially approved gene therapy that has the potential to cure sickle cell disease. The expansion of therapeutic options for sickle cell disease is exciting. But there is no single treatment available today that works for everyone. Even if gene therapy is a viable option, it may take time for a sickle cell patient to be able to receive it. Others will decide that gene therapy is not for them. For all these people, we must dismantle the racial stigmas that continue to impede care, and we must keep innovating to create new treatment options. If we do not, we will continue to fail many Black families.

Of every 365 Black children born in the U.S., one has sickle cell disease. The disease regularly induces episodes of searing pain. It can also lead to anemia, blood clots, pulmonary hypertension, stroke, kidney and liver problems, and premature death. People who inherit the sickle cell trait have red blood cells that are shaped like sickles or crescent moons, a distortion caused by atypical hemoglobin molecules, which are proteins that carry oxygen in red blood cells. Because of their sickle shape, the red blood cells clump up in blood vessels and prematurely break down, leading to the pain episodes and other serious complications.

A key solution to ensuring proper care is training specialists. Because there are few healthcare practitioners trained in sickle cell disease, patients rarely receive proper care, especially in emergency room settings. Those living with the disease experience the highest hospital return rate, within 30 days, compared to other health conditions. Return visits can cause a series of added difficulties, including misconceptions of pain severity and concerns about opioid dependency. Delays in treatment can lead to dangerous outcomes and prolonged trauma.

Providers who are educated can make patients aware of the treatment options available to them. In many parts of the country, doctors who have no specific expertise in the complexity of the disease manage these patients. Perhaps as a result, even the mainstay of treatment (a medication called hydroxyurea that has been proved to decrease pain crises) is vastly underused, with estimates that only around half of those who are eligible for it are on the drug.

We also need to acknowledge and address the fact that Black patients can have worse outcomes when they are treated by non-Black doctors. We must do better and boost the number of Black doctors generally given that many sickle cell disease patients are not always treated by specialists.

We must also continue to invest in research and development so that patients and doctors have a variety of options – and can pick what’s best for them. Developing a therapy is extraordinarily difficult, and extraordinarily risky. But so is a future where treatment options are not perfected.

Many of our new treatment options were made possible only because of incentives from the Food and Drug Administration, and those must continue. We must also boost efforts to raise money through community initiatives, like walks, hikes, and telethons.

In 2014, my memories as a resident physician pulled me out of retirement to lead Global Blood Therapeutics, or GBT, a biopharmaceutical company committed to the discovery and development of life-changing treatments for sickle cell disease.

In 2022, we sold GBT and its pioneering pipeline of sickle cell treatments to Pfizer . Ironic because a decade ago, investors were skeptical about GBT – because we were a sickle-cell only company.

Let’s create a future where a company focused on innovations for sickle cell disease is not such a wild idea.

Because for all the medical advancements and optimism surrounding sickle cell disease care, the condition remains widely unknown and misunderstood – even among the physicians and nurses upon whom patients depend. We can seize this moment and the momentum of medical progress to change the lives of the 100,000 people in the U.S. who have sickle cell disease, more than 90 percent of whom are Black or African American.

Our work is not finished.