September is Sickle Cell Awareness Month — 30 days of raising awareness for a health condition that affects 6.4 million people globally. As a patient advocate, I believe that it is time to recognize the perseverance of people living with sickle cell disease (SCD) and commit to working with partners in the government, non-profit, and private sectors to improve the healthcare outcomes for individuals faced with this debilitating, chronic illness.
To commemorate National Sickle Cell Awareness Month, President Biden put out a formal press statement informing patients that medical scientists across the nation are working hard to put an end to SCD. Presently, the Food and Drug Administration (FDA) has approved new drug therapies to help patients manage pain while the National Institutes of Health (NIH), through its Cure Sickle Cell Initiative, is developing safe and effective genetic therapies. This annual observance was appointed by Congress to help focus attention on the need for research and treatment of sickle cell disease.
Sickle Cell Disease: The Family Burden
According to the American Society of Hematology (ASH), 100,000 million people have sickle cell trait worldwide; with the sickle gene primarily affecting people of African descent. With migration patterns changing the SCD landscape, the disease now affects people with Middle Eastern, Mediterranean, Caucasian, Indian, Hispanic, Native American, and other ancestries.
In sickle cell anemia, blood is chronically low in oxygen and this causes red blood cells to contort into crescent-shaped cells that die early. The process leaves a shortage of healthy red blood cells and triggers disruptions in blood flow to major organs like the brain, liver, heart, and kidneys. People with sickle cell begin experiencing symptoms in early childhood and have to deal with serious health complications like infection, stroke, and chronic pain as they age into adulthood. Sickle cell anemia is a lifelong illness that causes severe damage to the body, critically impacting the patient’s quality of life.
In a multinational survey conducted by Global Blood Therapeutics (GBT), the long-term effects of SCD is a primary concern among patients and providers; with caregivers reporting profound physical, psychosocial, and economic burdens when caring for loved ones with the disease. If the ill child's presence changes the interpersonal relationships within the family unit, the family dynamic is affected. However, if informed caregivers have social support systems available to them, they may be able to cope more favorably with the illness.
SCD affects the U.S. population unevenly, with black and brown communities disproportionately affected. Structural racism in healthcare and constant systemic inequities means patients with sickle cell are often the last to get help. The disparities in care stem from poor access to SCD treatment centers and gaps in funding support for SCD as well as the implementation of medical advances.
In healthcare settings, ‘opioidphobia’ amongst prescribers means pain medications are denied even when required for sickle pain. This is because some providers think that a reliance on opioid analgesics is synonymous with drug abuse and addiction. Over the last decade, these negative and stigmatizing connotations have been unfairly applied to patients with SCD in a case of “guilty by association.”
At the emergency room, patients with SCD wait longer to receive care and are typically treated by generalists, who know very little about the disease and don’t understand the patients’ desperate need for pain relief. Many non-specialist providers lack the proper training to provide good comprehensive care to patients so they are subjected to acute physical pain, emotional trauma, discrimination, and health-related stigmatization in places of care.
A Call to Action
Sickle Cell Awareness Month is a wake-up call for elected officials, policymakers, government agencies, and pharmaceutical companies to invest in sickle cell education, research, and treatment. With increased awareness, the actions that follow will encourage better dialogue and improved conversations around the management and care of patients.
I believe that advocates are quintessential parts of the ecosystem for change because they inform lawmakers and health leaders of outdated policies and healthcare priorities. As a thought-leader in the sickle cell community, I try to foster mutually-beneficial relationships with community-based groups and non-profit organizations in the advocacy space to encourage cross-collaboration and allied partnership.
As long as the end goal is to publicly raise awareness for sickle cell, in ways that inform social or political change, there is always room for joint partnership. When we use the phrase “representation matters” it is not limited to race, religion, or sexual orientation; it also applies to the rare disease and disabled community. Diverse voices and perspectives have the power to transform prejudice into empathy and make the invisible visible, which is what we need.
My hope is that by using perceptive awareness campaigns that highlight the patient experience, we can encourage the healthcare industry to see patients as people first and lean toward compassionate and respectful care. Given the complexity of sickle cell disease, patients and their families need optimal support, understanding, and care from the healthcare community.
The Future of Sickle Cell Care
Presently, stem cell or bone marrow transplant is the only known cure for sickle cell disease, but this is only possible for a limited number of affected individuals who have suitable donors. As a transplant survivor, I have benefitted from a curative therapy (i.e. hematopoietic stem cell transplantation) but sadly, this advanced treatment option is not a universal cure that is available to patients in North America and beyond.
In 2019, Global Blood Therapeutics (GBT) announced the approval of Oxbryta (voxelotor), a disease-modifying prescription medication that stops hemoglobin from sickling in adults and children over the age of 12. Oxbryta is an oral therapy taken once daily that directly inhibits sickle hemoglobin polymerization, which is the root cause of SCD.
Dr. Kim Smith-Whitley is the Executive Vice President and Head of Research and Development for GBT and a renowned hematologist. When asked about the future of sickle cell care she said, “GBT is supporting an initiative that's focused on bringing centers of excellence to the sickle cell community by creating a network of healthcare facilities that patients can visit to get high quality care. If a patient lives in a rural area, we are able to direct them to a center close by. Introducing this hub and spoke model helps the healthcare system to better identify and address barriers to quality care.”
Whitley and GBT are focused on developing more disease-modifying therapies to ensure that patients have multiple treatment options. “My hope is that children born with sickle cell disease never have to experience the symptoms of SCD because there are new therapies available from birth” she added.
Researchers at the National Human Genome Research Institute (NHGRI) at the NIH are attempting to cure sickle cell disease by correcting the defective gene and inserting it into the bone marrow of a sickle patient to stimulate production of normal hemoglobin. Last month, I spoke with acting Deputy Director and Senior Investigator for the NHGRI, Vence Bonham Jr J.D. about the progress made in sickle cell research, particularly with gene therapy.
“For so long, there was only one treatment for SCD which was hydroxyurea and now there are a number of new treatments in the pipeline. I'm very excited about what's happening with gene therapy, especially when it comes to creating a potential modification in people's genomes that's safe. In the next five to ten years, sickle cell will not look like it did in 1990 or even 2010.” Bonham’s goal is to ensure that the lifespan of individuals continues to grow and more treatment options become available to help patients better manage their disease symptoms.
We as a society need to become better educated about sickle cell disease and have compassion for individuals living with the condition. With deeper knowledge of the disease opening new avenues of innovation, there are exciting new treatment options underway. As more and more stakeholders invest in sickle cell research, the future is incredibly bright for patients and caregivers.
Wunmi Bakare is the Founder of WBPR Agency and the creator of #SickleCellProdigy.