As a child growing up in Florida, Shirley Miller knew all too well the pain that can accompany sickle cell disease, an inherited blood disorder that affects nearly 100,000 people in the United States and millions worldwide. Like many others with the disease, her pain crises were frequent and intense and sometimes required hospitalization.
That was in the 1960s when treatment options for sickle cell disease were mostly limited to blood transfusions and powerful opioid painkillers. While they provided temporary relief, Miller lived in fear of the next attack—and worse, death.
“I was fortunate to have a wonderful, loving mom who took good care of me and helped me through the tough times,” said Miller. “She did a lot.”
As Miller grew older and more independent, the frequency of her pain crises decreased, even though pain remained a constant challenge. She attributes this to learning as much as she could about her disease and managing it aggressively. Now age 64, Miller sees her doctors regularly, gets more sleep, and takes her medications as prescribed.
These days, she has a lot more choices.
“I haven’t been hospitalized due to a sickle cell crisis in 15 years,” Miller said. “I have more energy now and I no longer have a lot of pain.”
One of the medicines she now takes regularly is hydroxyurea. In 1998, it became the first drug approved by the U.S. Food and Drug Administration (FDA) specifically for the treatment of sickle cell disease in adults. When taken daily, the drug reduces the likelihood of pain events, reduces the need for blood transfusions, and improves quality of life. For the past 20 years, it has become the standard of care for the management of pain in sickle cell disease.
But the company around it is growing. In just the past three years, the FDA has approved three new drugs for the treatment of sickle cell disease—L-glutamine oral powder; crizanlizumab; and voxelotor—that can help reduce a range of symptoms, including pain crises, and help prevent organ damage.
“I’m very excited about the new drugs that are finally coming to the marketplace,” said Miller, who recently began taking voxelotor.
But not everyone is able to manage their pain as well as Miller. For many patients with sickle cell disease, taking medications as prescribed remains a challenge. Some fear possible side effects and don’t take them at all, while others simply forget.
On this front, researchers are beginning to make inroads. Scientists funded by the National Heart, Lung, and Blood Institute, part of the National Institutes of Health, are currently developing a smartphone app that contains visual prompts, text messages, and videos that not only remind patients with sickle cell disease to take their meds, but also answer questions that might allay fears. Recently published findings suggest that the app will help boost compliance, particularly among young people.
Other researchers, including those at NHLBI, are making progress toward a cure for the disease in the form of genetic therapies, including gene therapy using stem cell transplantation and gene editing. But while the search goes on, many patients dealing with the most severe pain are still landing in emergency rooms, some hoping for relief from opioids, which have proven useful but are getting harder to obtain. Studies have shown that some of these patients are often unfairly stereotyped as drug abusers.
For all these challenges, Miller said, the tide appears to be turning in favor of people with sickle cell disease. The past few years have seen the emergence of a national effort to raise awareness about the condition and bring new treatments to the market that can extend—and save—lives. Miller now passes her message of hope to others in her job as a patient advocate at a comprehensive sickle cell center in Charlotte, NC, where she helps coach other sickle cell disease patients on how to better manage their condition.
“My advice is to find a good doctor or sickle cell specialist, and then do what they tell you to do,” Miller said.
While there’s no single best treatment for everyone, patients should find out what works best for their own care, know what triggers your pain crisis, and avoid risky behaviors, she said. This is particularly important in the wake of the current COVID-19 pandemic, as people with sickle cell disease are at increased risk for severe complications from the virus, according to the Centers for Disease Control and Prevention.
ADDITIONAL RESOURCES ON SICKLE CELL DISEASE:
The National Heart, Lung, and Blood Institute:
Sickle Cell Disease: https://www.nhlbi.nih.gov/health-topics/sickle-cell-disease
Today’s Faces of Sickle Cell Disease:https://www.nhlbi.nih.gov/todays-faces-sickle-cell-disease
Office of Minority Health Resource Center:
About Sickle Cell Disease: https://www.minorityhealth.hhs.gov/sicklecell/index.html
Centers for Disease Control and Prevention:
Preventing Pain “Episode” or “Crisis”: https://www.cdc.gov/ncbddd/sicklecell/treatments.html
Sickle Cell Disease: https://www.cdc.gov/ncbddd/sicklecell/index.html