Stephen Lee seems like a typical 28-year-old guy. He likes to hang out with friends, drive his black Mustang GT, and get outside on warm summer days. But one small thing is enough to send him to UCHealth University of Colorado Hospital in crippling pain several times a year.
That difference is so small you’d need an electron microscope to see it. On the short arm of his 11th chromosome, in a gene called HBB, a pair of his genome’s roughly three billion nucleotides are switched around like a battery put in backwards. And so Steven Lee is among the roughly 100,000 people in the United States living with sickle cell disease.
The sickle cell mutation causes the oxygen-carrying hemoglobin molecules in red blood cells to chain together. That chaining can build a sort of tent pole, stretching the red blood cells into the shape of banana or an old sickle for cutting grain before the age of tractors. Such cells die much faster than healthy red blood cells, and the body struggles to replace them, causing anemia. Their sickle shape also helps them glom onto each other as well as the walls of arteries, which causes clotting. That can bring all sorts of health problems in the short- and long-term. It also hurts – a lot.
Lee compared it to trying to walk on a bad ankle sprain, one that causes shooting pain with the tiniest amount of pressure. “It’s like that, but way worse,” he said. “It can start in one place and can travel through the whole body,” from wrist to elbow to shoulder to chest.
He avoids the cold and does what he can to keep things under control. But if that fails, his best option is to head up the road to UCH, where triage in the Emergency Department can lead to an inpatient stay of a solid week. Fortunately, UCH has two major assets to help patients like him.
A most welcome Hassell
First, the hospital is home to a preeminent sickle cell physician: University of Colorado School of Medicine hematologist Kathryn Hassell, MD. Second, the hospital is in the middle of an initiative called Sickle Cell Transitions to better understand the needs of sickle cell patients and to help establish better overall care for them.
Hassell, who leads the Colorado Sickle Cell Treatment and Research Center at the CU School of Medicine, has been caring for sickle cell patients at UCH since 1990. The disease’s widespread, complex impacts on the body attracted her scientific interest. It also appealed to her conscience: sickle cell patients were – and in general remain – underserved. She estimates she sees roughly 120 of the 150 or so adults with sickle cell disease living in the Rocky Mountain region, both as outpatients in the UCH Hematology Clinic and as inpatients. (In addition, teams led by foremost UCHealth physicians Robert Hoyer, MD, at UCHealth Memorial Hospital in Colorado Springs and Steven Schuster, MD, of UCHealth Cancer Care and Hematology – Fort Collins see sickle cell patients.)
Though the tools at her disposal are limited – oxygen, pain management, and blood transfusions are three of the big ones – Hassell’s experience and her dedication to understanding the nuances of each patient’s particular challenges have earned her much gratitude.
“I love that woman,” Lee said. “She is epic. I’m so grateful to have her as a doctor.”
In Lee’s case, Hassell crafted a pain management regimen he follows religiously. When he wakes up, he dissolves an anti-nausea pill under his tongue, then takes an oxycodone 30 and an oxycontin 10 with chocolate milk. He’ll taken additional oxycodone during the day and another oxycontin at night.
“She got it to the point I could function without being drowsy, so I could go on with my life,” Lee said.
There’s still pain, though: as he spoke, he winced as he put a hand to his right knee and extended it, and his back was hurting on this day, too, he said.
‘Transitions’ for improved care
Sickle Cell Transitions emerged in part because Hassell, a blood-disease specialist, has become so central to the general care of so many adults with sickle cell disease. That’s to a degree because children with sickle cell disease tend to have few other health problems, she said.
“They’ve only ever known their pediatric hematologist because kids don’t need anything else,” she said.
As sickle cell patients get older, though, health problems familiar to primary care practices crop up more often – acid reflux, asthma, high blood pressure and such. The idea behind Sickle Cell Transitions is to connect patients like Lee with primary care doctors, with Hassell as a backstop for complicated sickle cell disease-related needs. Another goal of the Transitions effort is to get a better handle on sickle cell patients, who often feel misunderstood in a health care system that sees relatively few of them.
The opioid epidemic complicates things, said Kasey Bowden, MS, NP, who is leading Sickle Cell Transitions together with Amira Del Pino-Jones, MD. Doctors have become wary of prescribing the large doses of pain medications that patients like Lee depend on. Sickle cell patients, in turn, feel like they’re on the defensive, having to justify what is in fact a justified level of pain management even as providers unfamiliar with sickle cell disease wonder if patients have ulterior motives, Bowden said.
“They don’t trust providers and there’s a mutual feeling that their providers don’t trust them,” Bowden said. The patients “feel like they’re not understood – probably because they’re not understood,” she added.
Connecting with patients
Del Pino-Jones says sickle cell patients are also prone to behavioral health problems such as depression – no surprise when you consider where they are in life. Lee said he has spent a Thanksgiving and a Halloween in the hospital, among many other occasions. “It genuinely hurts to be on, like, Facebook or Snapchat and see all your people having fun and you’re in the hospital,” he said.
Providers and patients can both gain from better mutual understanding, Del Pino-Jones said.
“These are young adults who in a perfect world would be out with friends, with family,” she said. “We need to get to know them as people and hear their voices, and have that as part of their care plan for them.”
Sickle Cell Transitions involves Bowden and Del Pino-Jones conducting in-depth interviews with sickle cell patients to better understand their concerns. Bowden and Del Pino-Jones explain the benefits of having a primary care physician that can then bring in Hassell or other specialists when needed. And, together with the Metro Community Provider Network, they connect patients who don’t have a primary care physician with one trained in handling sickle cell disease.
For now, even with the recent approval of the first new sickle cell disease therapy in two decades, focus is still on managing the disease in adults (children in some cases can be cured with a bone marrow transplant). But Hassell said advances in gene therapy could one day stop the disease regardless of age. She would like to bring such research to CU, though funding is a barrier – a common refrain in the sickle cell community. She thinks gene therapy successes among hemophilia patients could pave the way for similar advances for sickle cell disease.
Until then, the work of Bowden and Del Pino-Jones can make a difference, Lee said.
“You’ve got to connect with your patient, and as far as the pain, you’ve really got to figure out what’s going on,” he said.