Patrice Taylor has seen first-hand how debilitating Sickle cell disease can be.
Her sister, Renee, passed away from the disease in 2011, at age 31. She was in the hospital nearly every month, and faced many infection complications that come from the disease - a blood disorder that produces abnormal hemoglobin cells that don’t travel as easily through the body - raising the risk of chronic pain, anemia, and organ failure, among other conditions.
As the new director of Roc City Sicklers – a community group that provides emotional and educational support to individuals living with sickle cell disease and their families, as well as advocacy around sickle cell awareness – Taylor understands that living with the disease is multi-faceted. Beyond the medical risks and complications, many sickle cell patients face the simple challenge of being heard.
“Many schools don’t have the education and resources to support those with Sickle cell disease, and many doctors and nurses don’t know how it impacts individuals,” she said.
During the past few decades, there’s been moderate progress. “When my sister was born with it in 1980, barely anyone knew what sickle cell was at the time,” said Taylor. But due to confluence of factors – systemic racism, socio-economic challenges, limited medical education, and lack of infrastructural support – Sickle cell patients often feel misunderstood or underrepresented in the wider discussion of mitigating and curing complex diseases.
GCH is making new attempts to bridge that gap in a multi-faceted effort that includes strengthening partnerships with organizations like Roc City Sicklers, improving transitional medicine infrastructure to ensure pediatric Sickle cell patients get appropriate care as adults, and even utilizing humanities education to help inform the medical community on the unconscious discrimination patients can face in their care.
Awareness through Narrative
In comparison, for many pediatric cancer patients, there’s a clear beginning and endpoint to their story: diagnosis, treatment via chemotherapy and surgery, and if all goes well, remission.
For Sickle cell patients, however, there’s rarely an endpoint. No cure for the disease exists, outside of a bone marrow transplant that requires an exact match (usually siblings of the patient), and even that procedure carries significant risks.
As a result, Sickle cell patients are engaged in a constant challenge of day-to-day management of their conditions, the most common symptom being pain. Pain episodes occur when sickled blood cells clog up blood vessels, leading to a lack of oxygen and, in some cases, tissue death. The symptoms are often described as similar to the clutching pain of a heart attack.
“Pain may not be the primary symptom for every patient encountered, but the majority of them will tell you the pain is the most limiting step in the day-to-day quality of life,” said Sara Peterson, a 4th year medical student at the School of Medicine and Dentistry (SMD).
Peterson is studying health disparities in pediatrics under the bioethics pathway program at SMD, which seeks to educate students and faculty about the human context of medicine by applying humanities-based knowledge and approaches to issues of health and patient care. Peterson’s final-year project, “Narratives of Sickle cell Pain,” will aim to raise awareness about disparities in Sickle cell care by partnering with patients in the community and publishing narratives about their day-to-day struggles.
“We are focusing on the 13-21 transition ages, when they are at increased risk for worsening outcomes and have to move from pediatric to adult care,” said Peterson.
The injustices in Sickle cell care – often centered on pain management – reflect a wider problem with how the medical system interacts with Black patients. A 2016 study from the Proceedings of the National Academy of Sciences of the United States of America found that Black patients were systemically undertreated for pain as compared to white patients for the same condition. This under-treatment is prevalent in Sickle cell, for which more than 80 percent of population diagnosed with the disease is Black.
“Patients with sickle cell disease have a tendency to be labelled pain-seekers. And there is clear evidence that there are racial disparities in the treatment of pain,” said Francis Coyne, M.D., senior instructor in the Division of Transitional Care Medicine at GCH. “There is some evidence that patients with sickle cell feel discriminated against based on their disease.”
This systemic discrimination – coupled with concerns over the ongoing opioid crisis – makes access to pain medicine difficult for Black Sickle cell patients, despite it being an important intervention for day-to-day quality of life improvement, according to Suzie Noronha, M.D., an associate professor in the Division of Hematology and Oncology who serves as the director of the Sickle cell program at GCH.
“If you look at Sickle cell patients, they’re less likely to overdose or abuse opioids if they are prescribed them,” she said.
Part of these obstacles to care can be traced back to education. “Sickle cell up until the 70s and 80s was really perceived as a childhood illness,” said Noronha. “Medical education hasn’t yet evolved to acknowledge the problems we see in Sickle cell in adulthood, and we lack robust data and studies to guide adult providers on the treatment of chronic pain.”
This is why Peterson’s project could be an important tool in raising awareness about the struggles of Sickle cell patients while traditional medical education catches up. Narrative medicine – an innovative field that utilizes humanities education to improve patient care - can serve as a powerful method to help caregivers address thought patterns and attitudes that may contribute to systemic injustice, according to Jessica C. Shand, M.D., M.H.S., physician and associate professor in both the Department of Medical Humanities and Bioethics and the Division of General Pediatrics, who is trained in pediatric hematology.
“A purpose of narrative medicine is to train and expand our minds to be receptive to the stories we hear in clinical practice, and to understand how that impacts implicit bias in our treatment of individuals and of communities,” she said.
Shand has experience utilizing her multi-faceted training in pediatrics, hematology, bioethics, and the humanities to broaden the conversation about disparities in care. She’s seen Sickle cell patients be denied pain medicine because they hadn’t set a pain plan, and she’s witnessed caregivers struggle to provide effective treatment for chronic pain because it might not be their most emergent presenting symptom. Projects like “Narratives of Sickle Pain,” which both Shand and Peterson hope to publish and share with colleagues across medical disciplines, can potentially help offer guidance to provide more sensitive treatment.
“We hope this project will equip caregivers with the tools to ask more broad questions about the lived experienced of Sickle cell disease, and how pain effects every part of their lives,” she said.
A Challenge Larger than Medicine
The community of Sickle cell patients includes many success stories, like that of 20-year-old Fredryanna Leonard, who have battled pain, body aches, strokes, and seizures. On a Wednesday afternoon in August, as Noronha prepared Fredryanna for a blood transfusion, she credited the doctor for providing her with stable care that ultimately helps her manage her condition and live a relatively normal life.
“Dr. Norohna’s wonderful,” she said. “I recommend her to younger patients I know. Sickle cell is her baby, she always looks for ways to help and she’s very hands-on.”
In addition to blood transfusions, there are evidence-based treatments that can significantly improve the quality of life of Sickle cell patients. Hydroxyurea – an antimetabolite medicine that can fight Sickle cell by helping to decrease formation of the sickle-shaped red blood cells in the body – can help mitigate symptoms of the disease if administered at an early age to children who express abnormal hemoglobin. In particular, it can reduce long-term risks of pain crisis and acute chest syndrome, a form of pneumonia that is more severe and can cause death.
For many patients, however, the barriers they typically encounter are not medical but socio-economic, according to Noronha.
“While we have advances that can help with the disease, many families aren’t able to benefit because they may lack reliable transportation, their insurance may lapse, or they are working various jobs to make ends meet, so they struggle to make an appointment,” she said. “In addition, Hydroxyurea can be a life-changing medication for children with severe sickle cell disease, but the suspension is not covered by insurance, so it may be prohibitively expensive unless social work vouchers are used to cover the cost."
Noronha has been with GCH since 2013. For almost a decade, she has built up the trust of her patients and solidified the Sickle cell clinical program. But on many clinical days, she faces potential cancellations and postponements due to the logistical challenges her patients face.
“Research and knowledge are important, but we can’t forget the people we treat, and there needs to be more awareness that they need help beyond their next prescription and appointment,” said Noronha.
These problems become magnified when Sickle cell patients transition from pediatric to adult care, where there is less familiarity and understanding of the disease overall, and the risk of that misunderstanding goes beyond knowing how to treat pain. “Patients with complex medical problems, such as sickle cell disease, are at high risk for morbidity and mortality around the age of transition,” said Coyne.
Fredryanna has experienced this lack of knowledge firsthand when visiting the ED of a local hospital.
“My nurse didn’t know what it was or the symptoms. It’s a disease that is very much not talked about it in the wider community,” she said.
GCH now has systems in place to ensure that all Sickle cell patients are connected with quality care across the system. Collaboration between Noronha and the Complex Care Center (CCC) has created smoother transitions to adult care, but for many of these patients, the same socio-economic obstacles remain. Thanks to a 2020 Access to Excellent Care for Sickle cell Patients (ACCEL) Grant Program, however, the CCC has been able to address some of these obstacles by providing direct technological resources to patients, including two iPads that will allow transitional care medicine physicians to conduct telehealth visits in collaboration with their hematologist to avoid multiple appointments. A third iPad has also been provided for home use for patients who face major difficulties with transportation.
In addition, 10 cell phones with one-year plans are being provided for patients in need to support stable communication with their health team. The grant also provides infrastructural support for the maintenance of a registry of every patient engaged in this transition program, allowing CCC staff members to monitor patients’ progress and implement intervention plans where needed.
“This grant has helped us strengthen the infrastructure supporting these patients and engage them early in childhood, around the age of 12, to support a safe and well-anticipated transition,” said Coyne.
A United Step Forward
While Peterson’s narrative project, Noronha’s clinic, and new grant support for the CCC are all important steps, almost everyone involved in Sickle cell care acknowledges that addressing the problems on a systemic level will require a larger-scale effort that encompasses education, community partnerships, and state and federal support.
This is why alliances between GCH and organizations like Roc City Sicklers are critical first steps in this larger effort, particularly toward marshalling national attention and governmental support for treating the disease. For example, Noronha and Taylor have been working to build statewide coalitions in support of a Sickle cell bill that would provide money for centers of excellence to provide day hospitals for pain management, but these outreach efforts are still uphill battles compared to the resources that are available for other diseases.
“When you look at research funding at the federal or foundation level, there’s a lot less money devoted to Sickle cell,” said Noronha.
Noronha would also like to see more institutional funding for social workers, care coordinators, and behavioral health personnel that can help families, particularly those navigating social determinants of health in addition to the disease. In the meantime, Roc City Sicklers will look to help fill this need by partnering with GCH to identify patients and connect them to similar services in the community.
“We have a positive relationship with the social work team at GCH,” said Taylor. “They’ve provided us with resources and support, and we’ve made referrals to their group. Strengthening that relationship is something we’re continuing to work on, and we want to branch out in the Rochester community and partner with other facilities as well.”
Despite the long road ahead, everyone believes that progress has been made during the past few decades, both for treatment and awareness. However, the structural obstacles – ranging from ensuring providers are implementing effective treatment protocols to addressing the underlying social-economic barriers – mean that the partnerships that are newly formed need to be supported and expanded into the future.
“More people are aware, it’s something that’s being discussed,” said Taylor, “now the focus needs to be on the whole community, and worldwide; we need to make our presence known and get the information out.”