Written by Jessica Pasley
Zakia Onyekwere wasn’t supposed to survive in her mother’s womb. But in a battle against large fibroid tumors inside her mother’s abdomen, Zakia won.
So, when Zakia was born weighing 7.1 pounds with 10 fingers and 10 toes, her mother, Zanira Dudley, was elated. It was far from the scenario doctors had prepared her for – the possibility of a 1-pound premature baby, if she survived at all.
But Dudley’s elation quickly faded. Zakia’s diagnosis of sickle cell disease at 2 weeks old devastated her mother who had struggled during her pregnancy just to keep Zakia alive.
“I was so crushed, so hurt, when I found out,” said Dudley. “The entire time I was pregnant, I didn’t think about my sickle cell trait (diagnosed more than 20 years ago). It was really the last thing on my mind.”
Now, 3-year-old Zakia is in another fight, this time against the genetic blood disorder that is waging a war in her fragile body.
Zakia is among the nearly 100,000 people in the United States and millions worldwide living with sickle cell disease, a group of inherited red blood cell disorders. Red blood cells carry oxygen throughout the body via hemoglobin, a protein inside the cells. In a sickle cell patient, a genetic mutation causes the red blood cells to become curved, stiff and stick together. As the cells become clumped, they block blood flow, cutting off oxygen delivery to other parts of the body.
Zakia spent much of the first year of her life in and out of the Monroe Carell Jr. Children’s Hospital at Vanderbilt, fighting the infections and fever of this sometimes painful disease.
Although Zakia does not know the intricacies of the genetic blood disorder, there is one bit of crucial information she is very quick to point out:
“My sickle cell doesn’t stop me,” proclaimed the outgoing preschooler. “I want to be a medical doctor because I want to look for a cure for sickle cell.”
Zanira Dudley’s eyes brighten and her smile broadens at her daughter’s announcement.
It has only been in the last year that she has been able to experience her daughter’s enthusiasm, joy for life and insatiable love for princesses, flowers, monkeys, broccoli, noodles, Minnie Mouse and competing in beauty pageants. Her mother’s persistent care, the medications managing her disease and the doctors at Children’s Hospital have helped her get this far.
“I think about how my child was so sick all the time,”
Dudley said. “And now, she is not, and I am so happy. I praise God for that every day.
“When she was younger and couldn’t talk, I didn’t know she was hurting. She never cried. The fevers were my signal that something was wrong. I just prayed she would be OK. I did my best to take care of her.”
At Children’s Hospital, Zakia is one of 250 patients treated in the hospital’s Sickle Cell Clinic. The physician-scientists there strive to provide excellence in clinical care for children and adults, while they also conduct state-of-the-art research to advance their understanding of how to best care for patients.
Vanderbilt University Medical Center and Meharry Medical College also have joined forces to establish the Center for Excellence in Sickle Cell Disease to provide optimum health care and resources to the populations affected by the disease.
At the helm of the new center, in the role of director, is Michael DeBaun, M.D., MPH, an internationally known sickle cell researcher, expert and advocate for patients who have the disease.
Sickle cell most commonly affects the African-American population, occurring in about one in every 400 African-American births. But the disease is also proliferating among Hispanic Americans, accounting for one in every 1,000 births. Sickle cell also affects people from Mediterranean and Asian backgrounds.
Zakia has the most common and most severe form of the disease called HbSS, which accounts for 65 percent of cases. The other types include: HbSC, a milder form of the disease seen in about 25 percent of patients and HbS/beta thalassemia, which affects about 10 percent of the sickle cell population.
Sickle cell symptoms and complications vary from patient to patient, and depend on the type. A fever can be a sign of complications, which include pain, anemia, frequent infections and organ damage and failure. Other medical issues that patients encounter are stroke, acute chest syndrome (severe lung infection), hand-foot syndrome (swollen often painful hands/feet), gallstones, leg ulcers, stunted growth, eye problems and kidney problems.
Because cases of sickle cell can vary widely from one patient to the next, the new center – still in the development stages – will create a novel model of care that offers seamless and lifelong management for patients – from birth to adulthood.
Each patient will receive an individualized plan of care in collaboration with the patient/family and health care providers at the Matthew Walker Comprehensive Health Centers in Davidson, Rutherford and Montgomery counties.
By bringing together resources from Vanderbilt, Meharry and Matthew Walker, patients will receive the best possible care while physicians at the three medical entities identify ways to care for the next generation of children and adolescents with sickle cell disease.
The care also will transition from a hospital setting to community clinic, which will take some time to develop,
organizers said.
“With Vanderbilt’s One Hundred Oaks (campus), a paradigm shift already exists recognizing that outpatient specialty care doesn’t have to be delivered in a hospital and might be better delivered in a community setting,” said DeBaun, who also is vice chair for Clinical Affairs for Vanderbilt’s Department of Pediatrics.
DeBaun believes the creation of the center will help ensure that patients have a medical home throughout the course of their illness. A medical home is designed to make patients active participants in their own care, but with direction from a physician and medical team.
In a recent survey conducted by Vanderbilt and Meharry, 82 percent of adults with sickle cell disease did not have a primary care physician. DeBaun asserts that the lack of continuum of care is a global problem, impacting anyone suffering from a chronic disease.
“The pendulum has swung so far to the specialists, that often families don’t understand the importance of having or needing a primary care physician. We have to change this perception and create a partnership between pediatricians and ultimately internists,” he said.
DeBaun said the center will allow primary care physicians, pediatricians, internists and specialists to work side-by-side.
“We want to provide family-centered care for individuals with sickle cell disease,” said DeBaun. “With the recognition of the scarcity of health care resources and fragmentation of services to those with chronic diseases, we need to be creative and consider alternatives to our health care delivery model that will improve the care of this population.”
Dudley was no stranger to the disease when Zakia was diagnosed. As a carrier of sickle cell trait, she and her partner were tested to ensure her first child would not be born with sickle cell disease. That was more than 20 years ago when she was pregnant with her son.
Because she was worried about large f ibroid tumors that threatened the life of her second child, Dudley focused all her energy on carrying her pregnancy to full term.
Two weeks after Zakia was born, Nashville General Hospital at Meharry called Dudley with the news that Zakia had sickle cell. A sickle cell blood test is a mandatory part of newborn screenings, which leads to early diagnosis and treatment to manage the disease.
“I had so much going on,” she said. “I was blown away when they called me from Meharry to tell me what they found.”
Zakia’s father also carried the trait. When both parents have sickle cell trait, there is a one in four chance that a child could be born with sickle cell disease.
In the first several months of life, Zakia was in and out of Children’s Hospital because of crisis episodes, common with sickle cell disease. Her mother, Dudley, didn’t know when a crisis was happening until it was out of control, usually when Zakia’s fever had spiked.
Dudley said her daughter has not been hospitalized since her physician, Elizabeth Yang, M.D., Ph.D., director of the Pediatric Sickle Cell Program, prescribed hydroxyurea, a drug approved in 1995 after a large collaborative study showed significant improvement in the trial participants. For many patients, the drug is part of a health maintenance protocol that also includes penicillin, folic acid and blood transfusions.
Yang, who is also associate professor of Pediatrics, said much has improved in the management of this disease that once had a high mortality rate.
“Our ability to control infections made the most difference,” said Yang. “We are much more proactive and are able to provide better supportive care. We are also more knowledgeable about the care of acute issues such as pain, fever, dehydration or respiratory problems. We have hydroxyurea now, which prevents many sickle cell symptoms.”
“Sickle cell is a very complicated disease. It is encouraging to see more research on this disease in recent years, and I want to pass the discoveries to our patients in ways that work for them.”
Despite the advances and current therapies under study for the management of sickle cell disease, there is currently only one cure – a bone marrow transplant (BMT).
But that treatment is not widely used because it requires a full human leukocyte antigen (HLA) sibling match, which occurs in fewer than 20 percent of sickle cell patients. HLA are proteins or markers found on cells of the body and used to match patients and donors for a BMT. The immune system uses these markers to recognize which cells belong to your body and which do not.
Education is a vital piece of a patient’s disease management plan and is part of every patient visit at Children’s Hospital. Awareness about sickle cell is lacking in communities.
“There are no billboards for sickle cell,” said Kathy Jernigan, R.N., M.S.N., pediatric thrombosis nurse case manager. “So with no real champions to help highlight/support/promote the disease and what is going on with it, we have to teach our patients to become advocates for themselves.”
“We focus on how living a healthy lifestyle and taking control of their own health care will help them gain and retain control of their disease,” said Lesley Ann Owen, R.N., M.S.N., a sickle cell nurse case manager.
Most of the work that the sickle cell team does centers on empowering the patient.
Leigh Kramer, LCSW, social worker for the pediatric program, said she works with patients to help them develop coping skills and strategies to stay compliant with management of the disease.
“Kids don’t always want to take their medications. Some don’t want to drink lots of water to stay hydrated,” Kramer added. “Some don’t want to take rest breaks. Some just want to play with their friends and do what their friends are doing.”
Zanira Dudley is very well aware of the task that lies ahead.
“This is a life-threatening illness,” she said. “With sickle cell, the life span can be short. I just pray and continue to hope that Zakia’s medicines keep working for her. I see her future being bright.
“I have taught Zakia about her medicines. She knows she has to take them to stay well. She’ll tell you in a second…”
And right on cue Zakia takes a twirl and recites her medications.
“I take hydroxyurea, penicillin and folic acid,” holding up a finger to account for each medication.
Much like when she is on stage participating in pageant competitions, she cocks her head to the side, bats her big brown eyes, smiles and poses.
“I WANT to WIN!” she said of her beauty pageant contests.
Ironically, it’s the same thing her mother desires for Zakia in the contest called life.
“All I wish for Zakia,” she said looking over at her daughter, “it’s simple really. I want her to live a long, healthy life. I don’t want sickle cell to get in her way.”