The developed world has a surplus of knowledge, expertise and technological innovation at its disposal. Just in the past year the world did not know it would have an Ebola vaccine with a 100 percent efficacy rate or a disease detecting pill created by Google or troves of new research funding for Amyotrophic Lateral Sclerosis (ALS). Fear and novelty have raised the profile of these advances and the diseases they impact where immediate need, appropriate use and cost-effectiveness in the developed world are still wanting. There is an obvious need to keep attention on adverse health conditions that result in death and debilitation like Ebola and ALS: cures, treatments, and other new methods of prevention.
Nonprofits seeking to rid the world of devastating conditions have had marked success in raising funds and awareness of what used to be foreign concepts. While these funding and public relations advances have led to breakthroughs in research—a focus is mostly on research given there are no cures for conditions and diseases like Ebola, ALS and Alzheimer’s—there are many serious conditions that receive little attention at all. Sickle Cell Disease (SCD) has not received the support it is due in recent years. Julie Kanter, MD argues that the rationale for its low fundraising and awareness profile is likely attributed to demographics: a large majority of SCD patients are minorities.
“This is a population of patients without a voice that require significant advocacy,” said Kanter. “Historically, I’m sure racism plays a role since the majority of patients in the United States are African-Americans that have SCD. And in countries with African heritage, the incidence is higher.” Kanter is a trained pediatric hematologist-oncologist who leads Sickle Cell Disease research at the Medical University of South Carolina (MUSC). Kanter and her research team, including Dr. Shelly-Ann Williams, a neonatal fellow in the MUSC Department of Pediatrics, recently received pilot grant funding from the Center for Global Health to screen newborns for SCD in St. Vincent and the Grenadines.
“Sickle Cell Disease is the most common inherited blood disorder in the United States,” explained Kanter. “Newborn screening is the best method of defining incidence. It’s also important because if you screen babies you can initiate them on life-saving penicillin prophylaxis.”
The American Academy of Pediatrics found that screening newborns for SCD “markedly reduces morbidity and mortality” early in childhood—this was recommended in 1987. There are, however, still some states in the U.S. that do not provide compulsory or universal SCD screening for newborn children. Understanding and treating SCD early on provides for better, more promising health outcomes for young children. “The prevalence of SCD is between 1 in 300 and 1 in 500, depending on where you are living in the U.S.,” said Kanter. “In St. Lucia, for instance, rates are between 1 in 230 newborns.”
Kanter is also working with colleagues at Harvard University to develop point-of-care screening using density-based separator that helps diagnose SCD at low-cost. The test will be applicable to low-resource settings where the incidence rates of SCD are high. Low cost appropriate technologies are scarce in low and middle income countries, and needs continue to go unmet. Kanter is working to find other novel treatments, improve biomarkers and improve real-world methods to implementing what is currently known.
Disease-based stigmatism, according to Kanter, continues to impede progress in reducing SCD incidence. This stigmatism comes not in the form of race, gender or age discrimination but little understanding of the actual disease.“The hallmark presentation of SCD is pain, and pain can only be measured by the person experiencing it—not by lab or X-ray,” said Kanter. “And healthcare professionals have a difficult time understanding that—there is a lot of stigmatism and disrespect for patients with SCD experiencing pain.”
Education and fundraising are equally and abundantly important in finding better methods to treat and potentially cure SCD. Many SCD patients do not reach adulthood which makes a compelling case for increased funding and awareness of pediatric SCD care and research. Kanter explained that she will not stop at just the pilot grant funding from the MUSC Center for Global Health. She is advocating the need to increase funding and awareness by challenging convention through research. However, there is an ever-present need to keep attention and funding on SCD, especially given the U.S.’s standing against the rest of the world.“Globally, we are 20 years behind and are just working on how we identify the disease early on so we can use our advances across borders,” said Kanter.
Kanter will begin the next phase of her research by implementing evidence-based solutions and how to diagnose pediatric patients to make sure they get vaccinations in St. Vincent and the Grenadines. What she learns will be appropriately applied to low-resource areas in the U.S. When asked why dedicate so much time to solving what is seemingly an impossible problem that continues to plague the medical community in SCD, Kanter simply says it is her duty. Even in the face of many barriers, systemic and otherwise, she chooses to serve a population with few champions. “I think everything we do in medicine has to be about giving back, and we are incredibly fortunate to live in the U.S.,” said Kanter. “There are portions of the system that are terribly broken. If discoveries, treatments and improvements are only for those of us that are here in the U.S., than they are pointless.”