Although he is only 25 years old, Jude Amoako has been hospitalized more than 100 times for complications of sickle cell disease, an inherited blood disorder that causes severe pain and other complications. But he wants people to understand that patients are more than their disease. “I’m a working professional,” he says. “I’m trying to start my life and move forward with my career.”
In 2021, Amoako graduated from the University of Rhode Island, where he earned dual bachelor’s degrees in criminology and political science with a minor in business management. Now a marketing specialist, he was named a 2023 recipient of URI’s 10 under 10 awards, which recognize outstanding professional achievement and leadership in recent graduates.
Amoako was one of several people who spoke about their struggles and achievements at the Rhode Island Statehouse in June to raise awareness of sickle cell disease. “You can seem fine one day, and be in the hospital the next,” Amoako told attendees. “The pain is very heavy. But you have to think about falling and getting back up. Falling and getting back up.
The event was organized by the Lifespan Comprehensive Sickle Cell Center, which combines the Sickle Cell Program at Hasbro Children’s Hospital and the adult Sickle Cell Multidisciplinary Clinic at the Lifespan Cancer Institute. Many of the speakers at the Statehouse event participate in the center’s Patient Action Committee, which meets monthly to review care and make recommendations for improvement.
“Sickle cell disease causes acute, unpredictable, excruciating pain episodes that affect some of these patients every day of their lives,” says the center’s director, Dr. Patrick McGann. “It can also cause life-threatening complications such as stroke.”
Sickle cell disease occurs when people inherit one or two genes that contain instructions for making different types of hemoglobin, a red blood cell protein that delivers oxygen to organs and other tissues. Normal red blood cells are round and travel easily through blood vessels. In sickle cell disease, the abnormal hemoglobin causes red blood cells to become hard and sticky, forming a crescent shape that resembles a farm sickle. As sickle cells travel through blood vessels, they can become stuck and impede blood flow. Although medications and blood transfusions may help reduce the number of pain crises or risk of complications, currently the only cure is a bone marrow transplant.
“The disease primarily affects Black people,” McGann says. And racism has contributed to a lack of innovation in the field. “There has not been a lot of progress on treatment, primarily because of the population it affects.”
McGann was initially recruited to Lifespan to take care of children with sickle cell disease. But when he heard about the challenges patients faced when trying to make the transition to adult care, a common problem nationwide, he approached Lifespan leadership to create a combined program.
“Patients typically go to the same clinic from birth to young adulthood. They trust their pediatric team,” McGann says. “Then patients become adults and they transition to a new team, with people they don’t trust. They may not go to appointments and they get sicker.” When he came to Rhode Island, “I saw an opportunity to use the resources Lifespan has as an institution that runs an adult and pediatric hospital side by side.”
That led to the creation of multidisciplinary center that serves children and adults. “Sickle cell care requires more than the care of a doctor,” says McGann. “We need social workers and psychologists and community health workers and pharmacists and patient care coordinators. We have all these people on our team now.”
Structural racism, the term for discriminatory attitudes and policies that endure in the United States, remains a major challenge in health care for people with sickle cell disease, McGann says. When patients try to access care, “people don’t believe their pain. Their pain isn’t treated adequately.” Several speakers at the Statehouse event attested to this.
Francine Bailey said she went to a local hospital with pain and was left alone for so long the pain intensified. “I came in with a six on the pain scale and now I’m at a 12,” she said. When she began moaning in pain, “the doctor told me I was acting like an animal.”
After being admitted to another hospital, Robert Smith said he listened to music to distract himself from the pain. “A doctor told me, ‘You look good enough to go home because you’re listening to music.’ I’m the kind of person who hides my pain. But maybe next time I need to fall on the floor.” That’s why he felt compelled to share his experiences. “I want to get rid of the racism and stigma we face, especially at hospitals. I’m here to help the kids who come after us. I don’t want them to have to deal with what I had to deal with.”
When Dylan’Taniyah Igle seeks care at her local hospital emergency room that does not treat many patients with sickle cell disease, she said “I get the ‘what is it now’ questions when I’m screaming in pain.” The doctors and nurses ignored a pain plan McGann developed for her until he called them and intervened.
“I thank Dr. McGann and everyone at Rhode Island Hospital for really trying to educate my hospital and educate everyone when it comes to sickle cell anemia,” Igle said. “Because it’s difficult not only for us but for our families too.”
Her mother, Katrina Igle, agreed. “When you go to a hospital to get treated, you should be able to go there knowing that things are going to get better,” she said. “Not having anxiety because they’re looking at you like, ‘Oh here she comes again.’ Because they don’t understand what she’s going through.”
The anxiety and depression that may result are “a normal reaction to abnormal conditions,” says Allison McGirr-Crowley, a clinical social worker at the sickle cell center.
“The mental health challenges experienced by people with sickle cell disease are partially due to navigating social systems that don’t support people of color living in a capitalistic society and a health care system that historically put them last and has not done great at earning their trust.”
McGirr-Crowley provides counseling, psychotherapy, cognitive behavioral therapy, and other services to patients, depending on their need. She also coordinates the Patient Action Committee and a monthly support group.
“This is not a population that identifies with being weak or challenged,” McGirr-Crowley says. “Many patients and families I work with are very resilient. Still, it would be nice if people could access care and navigate the system without having to build up this resilience.”
Such resilience, and a resolve to improve care for others, was on display at the Statehouse event. “I like to inspire other sickle cell warriors to go after their dreams and to know that anything’s possible despite your challenges,” said Georgina Dauda. After graduating from URI, she earned a masters in social work from Rhode Island College. “One of my biggest accomplishments is becoming a licensed clinical social worker.” Dauda hopes to work with people with sickle cell disease.
“I use artwork as a way to navigate the events I go through,” said Christopher Huff, a graduate student at the Rhode Island School of Design. “I try to articulate certain things that happen to me within my life. Trauma. Identity. Interaction with other people. The art has just been very beneficial to my life, keeping me balanced, and sane in a way.” (Readers can learn more about his art by watching this YouTube video or visiting his website).
Alex Ramos, an undergraduate at Rhode Island College, said he suffered his first stroke at age 16, and a second just before his 18th birthday. “I lost vision in my right eye,” he said. “I think it’s very important to make sure we take care of our bodies, see our doctors, go to our appointments.”
Lydia Musula, a physician assistant at Hasbro Children’s Hospital, draws on personal experience to help patients and families deal with sickle cell disease. Her son Matthew, who is now 16, was hospitalized every four weeks for pain crises during the first year of his life. At age 15 months, Matthew had a stroke.
His pediatrician recommended monthly blood transfusions, which provide a regular dose of donated healthy red blood cells to reduce the risk of sickle cell complications. The transfusions significantly improved the quality of Matthew’s life, but Musula and her husband hoped to find a cure. They looked into the possibility of a bone marrow transplant, but the family was unable to find a matched donor. They then looked into gene therapy.
At age 12, Matthew entered an early-stage clinical trial led by researchers at Boston Children’s Hospital. The researchers silenced a gene known as BCL11A, which normally activates at birth to turn off production of fetal hemoglobin. By silencing it, the researchers hoped the bone marrow would once again produce healthy fetal hemoglobin instead of abnormal sickle cell adult hemoglobin. However, the approach was experimental. And it required a daunting conditioning regimen of chemotherapy and radiation to destroy existing sickle cells.
“At that point we decided to loop Matthew in and jointly make a decision,” Musula says. “We told him, we’re thinking of pulling out, because we’re not sure this can work. But he decided he wanted to go through with it.”
Preliminary results published in the New England Journal of Medicine have been positive. A phase 2 trial of the approach is now underway. And so far it’s working for Matthew. After undergoing gene therapy, “he has not been hospitalized for sickle cell pain, nor has he needed blood transfusions,” Musula says.
“My dream, as a parent, is to see more options for curative therapy,” she says. In the meantime, she’s helping other parents. In fact, Musula became a physician assistant after learning of Matthew’s diagnosis. “I wanted to support families like mine and improve the quality of life for individuals like my son.”
She still remembers how afraid she felt when she received the call that Matthew had sickle cell disease. “I had fear for a very long time,” Musula says. “I grew up in Africa. I lost two older brothers to complications of sickle cell disease. All I knew was that sickle cell disease was a death sentence. That was a burden I carried.” This informs the way she approaches other parents.
“I try to explain the medical information, what the diagnosis means,” Musula says. But she also tries to gauge where the family is. “It’s a genetic condition. So parents, just like me, might have lost loved ones. If they have fear, I offer reassurance. I may share part up my story to let them know I’ve been where they are.”
Other families may have done research ahead of time and have doubts about treatment options. In that case, Musula uses her medical training to discuss what the research shows and how treatment has changed over the years. “I think it gives parents confidence to have that information.”
At the Lifespan Comprehensive Sickle Cell Center, “We recognize that there’s been a lot of harm that’s been done historically because of structural interpersonal racism,” McGann says, “and we don’t tolerate that anymore. We listen. We respond. We know it will take some time. But we’re here to make change. We really need to do better for the patients who deserve so much more. We’re committed to that.”