September is Sickle Cell Disease Awareness Month and it would be hard to find a disease that could benefit more from a boost in public attention. Yes, advocates still organize walks through city streets to raise money and support for this, the nation’s most common inherited blood disorder. And over the years the post office has issued special stamps to help Americans remember that there are 72,000 or more people living with this debilitating disease.

Yet, despite the fact that some 2 million Americans, or 1 in 12 African Americans, carry the sickle cell trait and 2,000 babies are born each year with the disease, public and private funding for research, clinical trials and social programs has remained consistently low. Pharmaceutical companies have introduced no new drugs to treat sickle cell disease and the pipeline remains dry. Patients, mostly minorities and recent immigrants, face steep hurdles to receiving care. These obstacles include institutionalized racism, lack of insurance, language barriers and serious under-treatment of pain.

Sickle cell disease has a significant economic cost too. A 2008 study found that the annual cost of medical care in the US for people who suffer from sickle cell disease exceeds $1.1 billion. Much of that is shouldered by state Medicaid funds or written off as uncompensated care.

To illustrate the fundamental disparity between resources available for sickle cell disease (SCD) vs. other diseases, one only has to look at cystic fibrosis—a less common, but still prevalent inherited disorder that mostly strikes Caucasians. Cystic fibrosis affects 30,000 Americans (vs. 72,000 living with SCD), yet in 2003 the NIH, which is the largest payer for research, allocated almost four times more funding per person affected with cystic fibrosis as it did for those affected by SCD.

A study in Pediatrics, entitled “Sickle Cell Disease: A Question of Equity and Quality”  also found a huge disparity in private sector funding for SCD research, clinical care and advocacy as compared to cystic fibrosis.

“For fiscal year 2003, the Sickle Cell Disease Association of America’s total revenue was $498,577, compared with $152 million for the Cystic Fibrosis Foundation, a 300-fold difference that has substantial implications for the Sickle Cell Disease Association of America’s ability to support research and advocacy.” While the Cystic Fibrosis Foundation has established the Therapeutic Development Program to provide matching research funds to stimulate the development of new treatments and the Therapeutic Development Network to promote the coordination of clinical trials, the Sickle Cell Disease Association of America does not have the resources to launch such broad initiatives.”

People with sickle cell disease (SCD) carry two copies of a gene that causes the body to make defective hemoglobin, the molecules in red blood cells that carry oxygen. This causes the red blood cells to harden and become shaped like crescents, or sickles. As these misshapen cells travel through the bloodstream, they tend to get stuck in narrow blood vessels, cutting off the flow of blood and causing excruciating pain, organ damage and eventually, death. People who carry the trait—one copy of the sickle cell gene—show no signs of disease so only find out their carrier status through testing.

In 1972, coming on the heels of the civil rights movement, Congress passed legislation that set up funding for comprehensive sickle cell centers aimed at early diagnosis and treatment of children. More recently, all 50 states have mandated newborn screening for SCD and doctors now treat affected babies and young children with prophylactic antibiotics to cut down on debilitating infections. Experts report that in many states only 40% of parents of affected babies actually knew that they were carriers.

These interventions–earlier diagnosis and preventive treatment of children–have helped significantly to increase the lifespan of those afflicted with sickle cell disease. Another big boost was the discovery by NIH researchers in 1995 that daily doses of the anticancer drug hydroxyurea reduce the frequency of painful crises and acute chest syndrome in adults with SCD. Patients taking hydroxyurea also need fewer blood transfusions.

The net result of these interventions is that the life expectancy of SCD patients has risen from just 14 years in 1973 to 45 years in 2005.

What Happens When the Children Grow Up?

But this success achieved by pediatric specialists in keeping children alive well into adulthood has created a new disparity: the government has not invested in comprehensive treatment centers that cater to this growing population of adult SCD patients. The result is a jump in Medicaid-paid and uncompensated care for adult hospitalizations. In the Journal of Hematology a study that sets the annual cost of medical care in the US for people who suffer from sickle cell disease at upwards of $1.1 billion, researchers found that 80% of that is for hospital costs.

Once teenagers reach 18 or so, they age out of pediatric care and, often, lose insurance coverage too. Whereas Medicaid, SCHIP and other public programs provide decent coverage for children—even those who are recent immigrants—single adults with no children are often ineligible for public programs unless they are deemed disabled. And the fact is that many adult SCD patients do not qualify as disabled, or are unable to navigate the complicated process to get coverage. And because many of these young people have missed a significant amount of school over the years due to pain and illness, they are less likely to have completed high-school and face real obstacles (financial and health) in attending college and getting jobs. The social costs of SCD—both through poverty and mental stress—are very high.

Young adult patients, aging out of pediatric care, tragically lose their “medical home,” often finding themselves with no primary care doctor, no insurance coverage, no support groups and living from sickle cell crisis to crisis. This can lead to frequent trips to the emergency room as well as hospital admissions. In some urban areas like New York City and Baltimore, these patients “bounce” from hospital to hospital, earning them a reputation as “frequent fliers,” who are “drug-seeking” and trying to game the system.

In fact, many studies have shown that adult sickle cell patients are routinely undertreated for pain both in emergency rooms and once admitted to the hospital. “Every day… [SCD] patients come to hospitals across the country with severe, debilitating pain—yet instead of receiving compassionate care, they’re met with cold indifference,” writes Margarette Burnette , in the Winter 2009 issue of The Minority Nurse.

She goes on to say;

“Because sickle cell disease disproportionately affects people of color, all too often these patients must overcome barriers of stigma, bias and cultural misunderstanding to receive the care they need. Sadly, once many patients arrive in the ER, they face hourslong delays. As an added insult, once they do receive attention, they often face skeptical nurses and doctors who believe they’re there to abuse the system. Sometimes the patients don’t receive any medication at all.”

The hospital experience is so bad for many sickle cell patients that they end up not going at all—choosing to treat themselves at home, even when facing terrible pain. A 2008 study in the Annals of Internal Medicine  found that “pain in adults with sickle cell disease is the rule rather than the exception and is far more prevalent and severe than previous large-scale studies have portrayed.”

In the study, participants reported having pain on 54.5% of the recorded days; almost one-third reported experiencing pain nearly every day. Despite the reports of pain, these patients were reluctant to go to the hospital—preferring to treat themselves at home. The conclusion: “Our results were both surprising and striking: Pain in adults with sickle ell disease is far more prevalent and severe than previous studies have portrayed, and it is mostly managed at home; therefore, it is vastly underestimated when measured by using only health care utilization.”

In the end, patients with sickle cell disease confront many barriers to care. They experience all that is wrong with health care in this country; including lack of comprehensive primary care centers, emphasis on expensive technologies at the expense of public health programs, profit-driven drug development (again at the expense of public health), lack of access to insurance, and lapses
in culturally competent care.

According to a consensus statement on the use of hydroxyurea to treat sickle cell disease, issued by the National Institutes of Health last year, “it is difficult to draw conclusions about the effectiveness of hydroxyurea in everyday practice because we lack precise estimates of the number of people  with sickle cell disease in the United States [estimates run from 50,000 to 100,000 according to researchers] and the number of people receiving hydroxyurea.”

The report concludes that this potentially valuable treatment is greatly under-utilized by adults with SCD because of some serious barriers to care, including access to doctors who are even familiar with the drug:

“The burden of suffering is tremendous among many patients with sickle cell disease. These patients experience disease-related pain on many days of their lives and usually do not seek medical attention until their symptoms are overwhelming. They often attempt to treat themselves and thus do not always come to the attention of the health care system. Obtaining optimal care for patients with sickle cell disease is challenging. Many patients are not in a coordinated program aimed at prevention of long-term complications and acute pain crises. They rely heavily on emergency and short-term care facilities for pain control.”

What is to be done to change the way sickle cell disease is treated in this country?

In 2004, Congress enacted the Sickle Cell Treatment Act, which adds treatment for sickle cell disease as an optional Medicaid program. The covered “strategies and treatment” include chronic blood transfusions to prevent stroke, genetic counseling and testing and other treatments to prevent stroke. The legislation also called for the creation of 40 Sickle Cell Disease Treatment centers across the country, and calls for a National Coordinating Center to coordinate research and treatment protocols from researchers to be distributed nationally.

The impact of this admirable legislation has been modest, to say the least. The act expires this year and has been seriously under funded. Although the original funding request was for $10 million to help set up the treatment centers and the national coordinating office, for the last two years Congress authorized just $2.6 million (2008) and $2.1 million (proposed for 2009). There are currently just 10 comprehensive sickle cell treatment sites in the U.S. that are funded by the NIH—and the focus is still primarily on children.

It is clearly time to concentrate more resources on sickle cell anemia, especially on adult care. Spending more to establish a “medical home” for patients—including a primary care physician, social supports and access to specialists like those experienced in pain management—is essential to reducing hospital admissions and their crushing expense. Experts also believe establishing a national registry, to help determine the best course of treatment for adults and to more accurately figure out the prevalence of SCD, is  key.

So far, no one in the federal government has taken a leadership role in improving sickle cell care. Perhaps that’s because it’s a disease that strikes largely disenfranchised populations; minorities, immigrants and the poor. It would seem natural that the current administration would take an interest –especially when discussions take place about how health care reform can help reduce disparities in care. Here is a disease that has no cure, but there are treatments and interventions that can make life more manageable for those who are afflicted. If we are truly interested in health care reform, it’s high time that we did this.