MediaforMedical Copyright

Sickle cell disease: The forgotten survivors

Saved by screening as children, adults with the blood disorder SCD are left to fend for themselves

Child Welfare
Health Care

In 2010, Clarence Anderson IV told his mother, Evangeline, “OK, Mama, you did take care of everybody. Time for you to be happy.”

It was her 44th birthday.

He said, “What’s gonna be is gonna be.”

“You’re right,” she joked, as if she would ever wash her hands of her baby boy, after everything she had done to keep him healthy and living a full life. Seven months later, at age 21, he was dead.

Looking back now, she thinks he knew his end was coming. But it was a death that wasn’t foretold. Clarence wasn’t dying. His illness — sickle cell disease — had meant a lot of physical pain, strokes and time spent in hospitals.  But it wasn’t terminal, and it hadn’t stopped him from doing anything, including playing football for a season in high school.

Clarence Anderson IV playing with his sister Tiffany. His mother, Evangeline, says, "never tell a child what they can or can not do."
Courtesy of Evangeline Anderson

Even though kids with sickle cell disease (SCD) are vulnerable in ways other children are not – high altitudes or dehydration, for example, can trigger an extreme pain crisis — Evangeline says her attitude was, “Never tell a child what they can or can’t do.”

Until Clarence had turned 18, they had managed his illness, together. Hospital screenings when he was born in 1989 had alerted Evangeline and her husband that Clarence had SCD. They hadn’t even known that they both carried the trait; their first child was born healthy in 1983.

But in 1987, the National Institutes of Health (NIH) had recommended newborn screening for sickle cell disease, though it would take until 2006 for all 50 states to implement the recommendation. The early warning would allow parents of babies with the disease to take prophylactic measures so that their children could get through their early, risky years. Before the screenings were implemented, the median life expectancy for people with SCD was about 14.

Clarence Anderson IV was diagnosed with SCD at birth. Here he is held by his grandmother soon after he was born.
Courtesy of Evangeline Anderson

For Clarence’s parents, the diagnosis meant that what they had thought was colic, or “just hollering,” was real pain. Now they knew when to take him to the hospital, where he received care they were satisfied with; pediatricians, after all, were familiar with SCD because until newborn screening improved mortality rates, the disease had mostly been a childhood condition.

At age 5, Clarence had his first stroke, which is a symptom in a portion of SCD sufferers. By age 20, approximately 11 percent of SCD patients suffer a stroke. Another study indicates that up to 37 percent of patients will have a silent stroke by age 14, which goes undetected because it does not affect physical motor skills, damaging the thinking and cognitive parts of the brain instead. Those children can be consequently thought of as just dumb when, in reality, their brain is dying.

The longest stretch of school he ever missed was three weeks. Here he is at his 5th grade graduation. Evangeline says the school was understanding. (“I was the type of parent to make you understanding,” she says.)
Courtesy of Evangeline Anderson

Clarence’s strokes became so common that by age 11 he had had 20, and, according to his mother, would reassure panicking adults around him, “Y’all just calm down, I’m having a stroke.”

The longest stretch of school he ever missed was three weeks. Evangeline says the school was understanding. (“I was the type of parent to make you understanding,” she says.)

But when Clarence turned 18, everything changed; the medical care wasn’t the same. Right before he died, he told his mother, “The system gave up on me.”

Evangeline agrees. “Once [sickle cell disease patients] leave pediatrics, everyone throws them aside.”

Because of coordinated national efforts to implement newborn screening and a system that has been historically focused on children having access to specialty medical care, many more individuals with SCD are making it to adulthood in the U.S.; 97 percent of kids born with SCD are expected to make it to their 18th birthday.

Yet there were no similar efforts to create health systems that could care for the growing number of adults living with SCD and their changing needs as the disease progressed. Now there are not enough specialized doctors for adults living with the disease. (Babies born in 1987, when the NIH recommendation was first issued, are turning 27 this year.) This scarcity leaves a vacuum often filled by emergency rooms, primary care physicians and pediatricians, who try to follow their patients as they age (or to whom their patients cling after aging out of pediatrics). The result is sub-optimal care and higher costs to the health care system. A recent study indicated that approximately 25 percent of adults with SCD visit the ER more than six times a year, and many of these patients have potentially life-threatening complications.

“Thirty years ago, when people lived to below 18, they weren’t preparing for success. We didn’t make investments in our health care infrastructure,” says Dr. Althea Grant, of the National Center on Birth Defects and Developmental Disabilities, Division of Blood Disorders at the Centers for Disease Control and Prevention (CDC). “The focus was reducing mortality.”

In 2010, commemorations of the 100-year anniversary of the first clinical description of SCD in Western medical literature triggered conversations as to why there were still so many gaps in data, knowledge and care.

In response, public health officials, politicians, doctors and advocates have slowly begun working on both short and long-term strategies to increase access to care for adults living with SCD. In 2011, then Health and Human Services Secretary Kathleen Sebelius designated SCD as a priority area of focus across Health and Human Services agencies. Earlier this year, representatives even formed a bicameral and bipartisan Congressional Sickle Cell Caucus. Congressman Charles B. Rangel (D-N.Y.), who with Congressman Danny Davis (D-Ill.) and Senator Tim Scott (R-S.C.) will serve as co-chair, says, “This is a caucus whose time has come."

For Dominique Friend, an activist and author who has the disease, these efforts are overdue, given that it was obvious that newborn screening would result in more children surviving to adulthood.

“You would have thought they would have thought that all out and created some kind of incentives for doctors to go into caring for sickle cell adult patients. I can’t even try to make it sound good, it’s terrible; to be frank, the care is terrible,” she says. 

Sickle cell disease (SCD) is a group of inherited red blood cell disorders that take their name from the irregular sickle shape of those cells in individuals with the disease. Healthy red blood cells are round, which makes it easy for them to move through small blood vessels, carrying oxygen throughout the body. But in individuals with the disease, the sickle shape prevents the cells from carrying out their function. They can become hard and sticky, getting stuck in small blood vessels and blocking the flow of blood and oxygen to organs in the body. This causes repeated episodes of severe pain, organ damage, serious infections or even stroke. Sickle cells also die early, resulting in a constant shortage of red blood cells.

The CDC estimates that SCD affects 90,000 to 100,000 people in the United States, which makes it a rare disease here. But globally, it isn’t, affecting millions of people throughout the world.  (It is particularly common in sub-Saharan Africa, South America, the Caribbean, Central America, Saudi Arabia, India and Mediterranean countries such as Turkey, Greece, and Italy.)

Similarly, while the rate of occurrence is low in the total U.S. population, it’s not rare when measured within the specific racial or ethnic groups it affects: Among African-Americans, the disease occurs in about one out of every 500 births, and among Hispanic-Americans, in one out of every 36,000 births.

In addition, about one in 12 African-Americans carries what is called sickle cell trait (SCT), which occurs when a person inherits one sickle cell gene and one normal gene. People with SCT usually do not have any of the symptoms of sickle cell disease (SCD) but can pass the trait on to their children. They can also experience heat stroke and muscle breakdown during intense exercise under very high or very low temperatures. (The sudden deaths on the field of several student athletes who unknowingly had SCT prompted the NCAA in April 2010 to require Division I institutions to perform testing for SCT on all incoming team members. Similar policies were extended to Divisions II and III schools in January 2011 and 2013, respectively. The policy  includes an opt-out provision for students who can provide results from a prior test or for those who are willing to sign a liability waiver.) 

“It’s rare depending on where you live because the disease is not equally distributed; for example, maybe in New Hampshire there are few cases, but there are places — like Atlanta — where the burden is crippling. The health system has to be able to adapt to that fact,” says Dr. Grant of the CDC.

To date, the only cure for SCD is a bone marrow or stem cell transplant, which includes risks of serious side effects, even death.  The current focus in SCD treatment is on relieving pain and preventing infections and strokes, a range of symptoms that vary from patient to  patient.

Treatments can include receiving blood transfusions — which Clarence did; avoiding dehydration by drinking eight to 10 glasses of water each day; and, once in pain, receiving intravenous therapy and medications. In 1998, the FDA approved the use for SCD of a cancer drug, hydroxyurea, which for many people has reduced the number of painful crises.

As individuals age, the effects of chronic sickling means more severe pain more frequently, and patients accumulate complications such as organ damage, renal disease, cardiovascular issues, stroke and priapism, or painful and long-lasting erections.  And like all adults, sickle cell patients face other health challenges as they age.

One of the main reasons care for SCD adults isn’t as good as pediatric care is because there simply aren’t enough hematologists specializing in sickle cell disease treatment for adults. Dr. Wally Smith, professor of internal medicine and scientific director of the Virginia Commonwealth University Center on Health Disparities, estimates there are as few as 300 adult SCD specialists across the country.

Doctors who could specialize in sickle cell disease are those who complete a fellowship in hematology and oncology after their internal medicine residency. When it comes to choosing a field after the fellowship, oncology is often the far more attractive career option.

“The tremendous infrastructure and financial support to incentivize people to pursue research or care in oncology” does not exist for SCD, says Dr. Michael DeBaun, director of Vanderbilt-Meharry Center for Excellence in Sickle Cell Disease. “So there’s not this allure, no constant interaction, where medical students, then residents, then fellows are introduced to the field.”

And while cancer care is financially lucrative, many SCD sufferers are on Medicaid and their treatment is not fully reimbursable.

In addition to paying less, Dr. Smith says that the limited treatment options in SCD can make it less intellectually rewarding than treating cancer, where constant developments in drugs and therapies make the field dynamic. 

Treating SCD often involves giving high dosages of opiates to relieve the excruciating pain patients can experience, which have a diminishing effect the more they are used.

“That lack of supply of willing and trained and available adult practitioners — that is problem No. 1,” says Smith. “Even if they are trained, they may not be willing or may not want to take care of these patients. They don’t want to be in the business of just giving painkillers; they don’t want to be a dope dealer.”

However, pharmaceutical companies have begun to take some interest in SCD. A couple of recently developed drugs that might help improve patients’ lives and also make the field more interesting to specialists are currently in FDA trial stages.

“There’s no simple solution, no silver bullet for this; you can’t change the number of sub-specialties in a quick turnaround,” says Dr. W. Keith Hoots, director of the Division of Blood Diseases and Resources at the National Heart, Lung, and Blood Institute (NHLBI), part of the NIH. 

It will require, he explains, “a concerted effort across training care systems in the U.S. as well as strategic changes in things like reimbursement so that doctors who go into it will get compensated.”

According to SCD activist Friend, health care professionals who have little knowledge or experience with the disease are often prejudiced. “Once you walk into the ER and start talking with the doctors, they judge you by what they see, and because I don’t look like a sick person, they think you can’t be in as much pain as you say. But when you have lived in pain for as long as you can remember, you can deal with it to a certain extent,” she says. “They think you are a drug seeker because you know 4 milligrams of a strong painkiller won’t cut it for you.”

Furthermore, Friend adds, “it’s definitely race-related, and it’s worse for African-American men; they are really stigmatized and made to suffer, and to doubt their own pain.”

Recognizing that the shortage in SCD specialists will take years to change, the conversation has shifted toward strategies that would make those primary care physicians and ER doctors who do end up providing that care better equipped to treat the disease.

The NIH is currently developing guidelines for primary care physicians that are projected to be available this summer, even though the amount of scientific evidence behind them is less than ideal, according to Johns Hopkins bioethics professor Dr. Carlton Haywood Jr., whose research focuses on SCD.

“So much of this is tied into the inequities in the amount of research and resources directed to SCD, compared to other disease, that we don’t even have the appropriate amount of research-based evidence to develop guidelines,” he says. “But we have reached a point where the NIH said, ‘Regardless, we have to do something.’”

For Vanderbilt’s DeBaun, the guidelines are only a first step.

“Simply having guidelines available doesn’t mean people use them. There have to be other strategies to reinforce the importance of the guidelines.”

At Vanderbilt, DeBaun decided to take specialized medical care off-campus, out of the academic center, and into a federally qualified health center located in an African-American neighborhood in Nashville. That way, by having a specialist available to work “shoulder to shoulder” with the primary care physician, he or she is able to gain greater understanding and experience with treating the disease.

DeBaun’s work is supported in part with a Health Resources and Services Administration (HRSA) grant, which champions the idea of a “medical home” in general and specifically for SCD patients.

Such a model envisions local primary care providers supported by a partnership with a regional specialist so that wherever a patient lives, both they and their primary care provider can have some kind of access to an expert if there isn’t one locally. This helps the primary care doctors feel as if they aren’t alone and makes them more willing and able to care for patients with specialized needs, all of which benefits the patient.

“We think this could be the long-term strategy,” says Dr. Edward Ivy, director of HRSA's Sickle Cell Disease Treatment Demonstration Program.

And from the patient side, Haywood, who also suffers from the disease, says efforts should focus on getting doctors thinking about transition from pediatric to adult care earlier and empowering them to ask the right questions and getting the answers. He also believes that conversation should start well before the child is on the cusp of transitioning into adulthood.

“It’s a particularly dangerous time,” he says. “Because no one is following them, they can easily get lost in the process.”

After Clarence turned 18, he was unable to find a specialist to care for him, so he stopped having regular transfusions, which were critical to minimizing the amount of strokes he suffered. When he had a pain crisis, he would end up in the ER, lost among all the other emergencies and attended to by doctors and nurses who weren’t trained to treat SCD. And because he was an adult and had moved away from home, he had lost his best advocate, his mother. 

Clarence, in the back, with his mother Evangeline, his sister Tiffany and her son, Christmas 2007
Courtesy of Evangeline Anderson

According to Evangeline, he became increasingly tired and frustrated — tired of being in pain, of getting stuck and of getting worse — which made him reluctant to engage with the medical system if he didn’t have to.

But one particularly severe crisis sent him to the hospital. He was there for days before Evangeline knew. As soon as she saw him, she told the nurses he needed a transfusion.

“You not a doctor; you don’t tell us what to do,” she says they responded. She got on the phone with the advocates at the Sickle Cell Foundation of Georgia, and within a few hours Clarence got the transfusion he needed. But in that time waiting in the hospital, he caught an infection, which traveled to his brain.

The doctors told Evangeline they needed to operate on one side of Clarence’s head to drain the fluid accumulating inside.

After the surgery, Evangeline says that although he could still speak, Clarence was not himself. Then, doctors said they would have to operate on the other side of his head the next day.

While they waited, Evangeline says Clarence told her the last thing he would ever say: “I love you and wish I had gone to the Army like my sister.”

Clarence at the prom, 2008. When he reached adulthood, he was not given adequate care as the system had failed to prepare for the success of the newborn SCD screenings.
Courtesy of Evangeline Anderson

“Boy, you know you can’t go. They don’t take sickle cell kids,” she answered, and they both laughed.  Evangeline says she still had hope; he had, after all, survived everything that had come before.

But after the second surgery Clarence never regained consciousness, though he was able to breathe on his own for a while longer.

“What I was waiting for all my life and didn’t want to accept …” Evangeline says, “he was leaving, he was slowly dying.”

Evangeline was there for every second of the last four nights of Clarence’s life. When the moment came, she somehow knew he was getting ready to leave. On her laptop, she played him the gospel song, “Gonna be with Jesus.” She saw a single tear come out of his eye.

“That was his sign,” she says. “He was going.”

Three years later, she tells it as if it were yesterday, and says she feels cheated.

“This is another century and sickle cell has been around for years. We could do more. We should do more. We should have just as much as cancer does for sickle cell, and we don’t. When they label it a black disease, all bets are off, you get less. At the end of day, that pisses you off. I guarantee that if the transition was better we would have kids living longer and successfully and not in pain.”