Eliminating misinformation and breaking the stigma of sickle cell disease

Even though sickle cell disease is categorized as a rare disease, it’s one of the most common genetic disorders in the United States. It is often called “the forgotten disease” because, even though it has been known and studied for over 100 years, there is no cure and it lags behind similar diseases in both research funding and media attention.

September is Sickle Cell Awareness Month. This commentary is the second in a series of three posts about sickle cell disease (SCD). 

In the United States, 90,000 to 100,000 people have SCD. Even though it is categorized as a rare disease, it’s one of the most common genetic disorders in the United States. As WHYY’s Jeanette Woods reported for The Pulse in August, SCD is often called “the forgotten disease” because, even though it has been known and studied for over 100 years, there is no cure and it lags behind similar diseases in both research funding and media attention.

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As one of the most common genetic disorders in the United States, sickle cell disease (SCD) is estimated to affect 90,000 to 100,000 Americans, according to The Centers for Disease Control and Prevention (CDC). As a result, many of us may know someone who has the disease or the trait. However, knowing them and sharing in their unfortunate experience (whether participating in their care or just observing them) are two extremely different things.

Working with Dr. Marjorie Dejoie and the Sickle Cell Disease Association of America Philadelphia/Delaware Valley Chapter (SCDAA/PDVC) has made me privy to the lives of these incomparable and admirable individuals.

The general misperception of patients with SCD is that they are victims and cannot do the things that most people do without the fear of flaring up a crisis. This could not be further from the truth. SCD patients can do everything and anything they desire and put their minds to — and then some. I have met SCD patients who do more than many people may even do in their entire lifetime. The only difference between a SCD patient and a person who does not deal with the disease is their level of drive and desire.

People with SCD may have to avoid extreme heat and cold, because it can trigger a pain crisis; to pay extra attention to diet; to stay hydrated by drinking enough water; to take vitamins (especially folic acid); to exercise; and to get enough rest — but these are also things that normal people should also be doing to remain healthy. This stigma affiliated with the disease must be broken.

Not just a black disease

Currently, Dr. Dejoie and I have been working with SCDAA/PDVC to not only eliminate this stigma but also the common misperception that SCD is only found in Black people. The disease is a global genetic disease that occurs most frequently in people who live in or have descended from parts of the Earth’s tropical and sub-tropical regions where malaria is or has been present. The gene variant that causes SCD evolved as a result of malaria resistance. The genetic variation responsible for sickle cell is associated with the original mutation as a protective measure against malaria and not the phenotype, the outward expression of genes (i.e., skin color).

It is present on five continents:

Sub-Saharan Africa and in the Maghrib
Asia (Middle-East, Arabian peninsula, India)
North America (USA)
South America (Guatemala, Caribbean islands, Brazil, Surinam, Guiana)
Southern Europe (Southern Italy and Sicily, Greece, Turkey)

Despite popular belief, SCD also affects a small percentage of Arabic, Indian and Caucasian populations from Southern Europe. It is found more frequently in peoples of African descent because they populate the geographic regions that are most prone to malaria. Hence, the stigma, lack of funding and research associated with SCD, one could argue, most likely stems from institutional racism.

Fighting the disparity gap in Pennsylvania

According to epidemiologist Camara Phyllis Jones, the correlation between SCD and race/ethnicity to institutional racism is due to the continuous perpetuation of historical legacies (i.e., social segregation) by contemporary institutions (e.g., medicine, education, politics, employment). The inability to address these structural differences continues to play a role in the determination of patients’ personal health. Only when these stigmas have been eradicated will our efforts towards the ultimate goal of closing the health disparity gap and having the best “patient-centered” treatment plan for SCD patients come to fruition.

The state of Pennsylvania, having a significant SCD population, is cognizant of the urgency of this matter, and efforts are underway by community leaders and specialists in this field to bring this multidisciplinary framework to life. Several branches of this framework are currently at work. A new emergency department treatment protocol is in its final stages of review at the NIH. Thomas Jefferson University Hospital is updating the operations of its current sickle cell day unit and addressing patient treatment in the emergency department. United Health Care has implemented a “CARES” pilot program to connect with patients and take action that would redefine how their illness is perceived, allowing each to evolve as a whole person with a specialized treatment plan. A legislative milestone has been achieved with the formation of the Sickle Cell Disease Congressional Caucus, designed to focus on increasing support for the largely under-funded disease. Town hall meetings have been held by the NIH, CDC and pharmaceutical companies to hear the concerns, requests and needs of sickle cell patients and to promote clinical trials.

As each component is tested and perfected, their unification under one coherent program is where the future of closing the health disparity gap and having the best “patient-centered” treatment plan lies.

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Samantha Obuobi earned her master’s of public health degree from Drexel University in 2014 and recently submitted policy recommendations ot the U.S. Department of Health and Human Services to address health disparities related to sickle cell disease.

Us (“student attendees”) w/ former US Secretary of HHS Kathleen Sebelius @SecSebelius @ the genomic conference pic.twitter.com/8mReokxiwJ

— Dr. BOSS (@Dr_SamIAm) September 8, 2014