Sickle cell care gap hits young adults
Transition to adulthood presents challenges
When her daughter was little, Pamela Madu quit her job as a teacher to be a nurse so she could better understand what doctors were telling her about her daughter’s serious blood disorder.
Elechi Madu, now 16, has sickle cell disease, a genetic condition that causes deformations in red blood cells that clog or break throughout the body. Patients like Elechi often suffer an array of lifelong complications and chronic pain.
“I didn’t feel like I was a good advocate for my child because the medical field was so foreign to me,” Madu said.
Working at a hospital, the Memphis, Tennessee, mom has seen adult sickle cell patients try to navigate the serious illness in a complicated health care system. Soon, her Elechi will be in their shoes. “It scares me,” Madu said.
Sickle cell patients suffer unique challenges during their transition into adulthood due to a lack of specialists, nurse case managers, access to health care and problems with insurance coverage.
Another reason, the American Society of Hematology says, is a “relative lack of investment” in the disease compared to other conditions, like cancer or cystic fibrosis.
As recently as the 1970s, children born with the disease weren’t likely to survive into adulthood, so the transition hasn’t been well studied. Medical advances and universal newborn screenings have allowed patients to now live longer, on average into their 40s.
Still, the gap in care remains wide: Young adults with sickle cell experience a significant uptick in hospitalizations and deaths, experts say. This peak in mortality hasn’t changed in the past 50 years, according to one analysis of data through 2017.
“That’s devastating,” said Dr. Ify Osunkwo, a Charlotte, North Carolina, pediatric hematologist-oncologist
who specializes in the illness. “The system doesn’t support the movement from peds (pediatrics) to adult care … Because sickle cell is a rare disease, and it’s a disparity condition, just depending on the system is not enough.”
‘My heart has been broken’
Elechi has had pain her whole life. Chronic pain is a part of the disease. Sometimes it’s in her back or fingers, making it hard to get up or grab things. Other times it’s in her chest and it’s hard to breathe.
“When you’re a kid, when you say you’re in pain, they believe you,” Elechi said.
But that’s not the case for many adults with sickle cell. Despite chronic pain being a hallmark of the disease, patients may be denied pain medications and face scrutiny when they show up to the emergency room needing pain relief.
Madu has seen it happen firsthand in her adult sickle cell patients. “My heart has been broken many times in the hospital,” she said.
Because of a lack of specialists, adult sickle cell patients often get their health care in community hospitals where clinicians are less experienced with the disease, according to the American Society of Hematology.
There, emergency-room physicians are cautious to administer high-dose opioids amid a nationwide deadly addiction epidemic. Only recently have researchers begun studying potential alternatives to opioid relief pain in sickle cell patients.
Though some patients have been dishonest, “oftentimes that’s not the case.” said Raymona Lawrence, director of research at the Sickle Cell Community Consortium, adding there’s a “stigma over the whole population,” many of whom are Black.
John Butler II, 38, of Columbus, Ohio, struggles with this often.
“They wouldn’t want to really listen to or hear what I was trying to tell them in terms of the ... level of pain I was having, the level of medication I needed to be on,” the sickle cell patient said while at the hospital getting a blood transfusion. “It did become a struggle as a young Black male to get that all figured out, especially when you’re dealing with doctors you don’t have a past relationship with.”
The disease occurs more often in people of color. One of every 365 Black babies in the U.S. and one of every 16,300 Hispanic babies are born with sickle cell, according to the Centers for Disease Control and Prevention.
By the time sickle cell patients are adults, they’ve experienced many pain crises and may not be visibly reeling, said Osunkwo. But she’s had patients describe their episodes as worse than a bone fracture, root canal or even giving birth.
“You can’t really ‘see’ a sickle cell pain crisis. When you’re 20, you don’t cry and scream, you find ways to adapt to the pain,” she said. “That lack of emotional expression, people equate that to, ‘Oh, you can’t be hurting that much.’ ”
‘It gives them hope’
Despite improvements in treatment, because of the limited life expectancy of sickle cell patients, there is no national model or standard for a successful transition into adult care. Toolkits have been developed and expert opinions issued by groups like the American Society of Hematology and the American Academy of Pediatrics, but there’s still limited knowledge on how effective certain strategies are for adults and few studies addressing transition outcomes, according to a 2019 analysis.
Osunkwo and Lawrence are trying to develop one. They received federal grants to survey and implement transition programs in 14 large and small clinical sites across the nation. One of the aims of the “St3P UP Study” is to measure the impact of mentorship on reducing patients’ visits to the emergency room. Mentorship helps because older sickle cell patients can provide insight for younger patients.
Young sickle cell patients are often hyperaware of dying, experts say, as many face multiple crises related to the disorder. The illness is also rare – about 100,000 people in the U.S. suffer from it – and they may not have met other patients. Much less, any older than them.
“They feel alone, they feel isolated,” Osunkwo said. “When they see other people with sickle cell disease, it gives them hope.”
To increase the number of specialists giving care, experts say more fellowships and training specifically in sickle cell care need to be offered to emerging oncologists and hematologists. Right now, most physicians entering those specialties focus on cancer care.
Additionally, researchers have called for the establishment of adult sickle cell treatment or outreach centers. Authors of an August paper in “Blood Advances” defined the first set of requirements for these centers, emphasizing social workers and patient coordinators as essential components.
Lawrence, who researches disparities among rural patients of color, sees that need even more acutely in her studies.
“It’s important for us to really think about community-based organizations, especially those specific to sickle cell disease, and see how we can increase their capacity,” she said.