Birth defects remain a leading cause of death in the first year of life. According to the March of Dimes, every 3 to 4 minutes a baby is born with a birth defect in the United States. About 1 in every 33 infants is affected by birth defects.
UNC Charlotte researcher Cynthia H. Cassell has devoted her career to improving the lives of families and children affected by birth defects.
Because most birth defects occur in the first trimester of pregnancy, the March of Dimes and other organizations focus on fetal and maternal health stress prevention measures to reduce the number of babies born with birth defects, low birth weight, and/or premature.
Knowledge of birth defect prevention measures is widespread and well-proven, yet a surprising number of women are not exposed to the information prior to and during pregnancy, when it is most beneficial.
For example, simply taking a vitamin can help prevent neural tube defects, like spina bifida, which are among the most severe type of birth defects.
"We've found women taking 400 micrograms of folic acid during their child bearing years and into early pregnancy can prevent up to 70 percent of cases of children being born with spina bifida, a major birth defect in which the spine doesn't develop correctly," said Cassell, an assistant professor of public health sciences.
Folic acid, found in leafy green vegetables, orange juice and fortified grains, is a "magic bullet," according to Anna Bess Brown, director of the North Carolina chapter of the March of Dimes. "We're campaigning across the nation to encourage all women of childbearing age to take a vitamin pill every day," she said.
In the quest to make scientifically sound recommendations for prevention researchers at the Centers for Disease Control and Prevention (CDC) are examining closely potential causes of birth defects, including maternal behaviors, such as smoking, alcohol use, nutrition, environmental and genetic factors, and maternal and paternal age.
Orofacial clefts, which include cleft lip with and without cleft palate, are among the most common birth defects in the United States; they also are considered among the most preventable and treatable. About one in 700 infants a year in the United States are affected.
"Once a child with a cleft receives surgical repair of the lip and/or palate, especially if they are treated early on, you'd never know they had it," said Cassell. "We should do everything we can to help these children lead physically and developmentally normal lives."
Choice and Circumstance
Intervention and treatment were the courses of action that Susan Lynch, coordinator of UNC Charlotte's RN/BSN program in the School of Nursing, and her husband, George, decided upon when they adopted three children from China, the youngest two of whom have special needs.
The Lynch's began the adoption process after losing their infant son, Tyler, to a genetic disorder in 1999.
Two months after what Lynch described as a typical pregnancy and delivery, Tyler started showing signs of delayed development. "We noticed he wasn't holding his head up well, and he wasn't moving his arms and legs," she said.
Tyler was diagnosed with Spinal Muscular Atrophy Type 1, and the Lynch's were suddenly thrust into a maelstrom of decisions about whether and how to extend Tyler's life. Lynch, a seasoned critical care nurse, wrestled with shock, anger and grief. At 5 months, Tyler passed away.
Through genetic counseling the Lynch's discovered they were both recessive carriers of the gene that caused the disorder. They were told any biological children they had would have a 25 percent chance of having the disorder and dying, and the other 50 percent would be carriers of the gene.
Years later, when the Lynch's were again ready to expand their family, they decided to adopt a child from China. Soon after bringing daughter Emily into their family, the Lynch's decided to adopt again from China. This time, they adopted Alissa, who suffered from a mild cleft palate.
"We had her palate fixed in the United States and really had no complications from it," Lynch said.
In October 2008, the Lynch's added a third child, also with special needs, to their family. Their son, Joshua, now 3, suffered from a severe bi-lateral cleft lip and cleft palate. "When we came back to Charlotte with him we weren't prepared for what his issues would be," Lynch said.
With Joshua, the Lynch's experienced frustrations all too familiar to families trying to coordinate the care of a child with birth defects. A team of physicians in specialties ranging from plastic surgery to pediatric dentistry to speech therapy would be necessary to properly treat Joshua, but after seeking opinions from a plethora of specialists, a comprehensive treatment plan remained elusive.
Eventually, Lynch consulted with University colleague Cassell who directed her to the cleft and craniofacial team at UNC Chapel Hill.
The multidisciplinary team approach to cleft treatment can be safer and more effective — four surgeries and numerous speech therapy sessions later, Joshua is progressing by leaps and bounds. After a year of traveling to Chapel Hill every two months, the Lynch's have been given clearance to cut their visits to a yearly check up. Joshua benefitted from the North Carolina Infant Toddler Program, which is a state-based care coordination program that provides in-home services to qualified children. He now receives speech therapy through the Charlotte Mecklenburg Schools Special Education program.
While Joshua's story is largely a successful one, the Lynch's odyssey illustrates both the opportunities and barriers inherent in the healthcare system. The latter includes cost and access to care, and the ease with which families are able to navigate through the health care system.
"My husband quit his job to be able to take care of our son — he'll need more surgeries later. I work so we can give him what he needs," Lynch said. "Most families of people who have special needs face some really hard choices."
Advocating Better Care
Before joining the faculty at UNC Charlotte, Cassell worked as a statistician with the North Carolina Birth Defects Monitoring Program, the state's birth defects registry. When North Carolina joined 10 other states to participate in the CDC National Birth Defects Prevention Study, Cassell took a closer look at the study and its aims.
She found that the study concentrated on risk factors for birth defects but did not address the gaps in referral to services, access to services and cost of care that exist for families of children with birth defects. In particular, costs, timeliness of care, barriers to care and factors that affect health service use and costs pertaining to children with orofacial defects were either outdated or nonexistent.
Cassell won a CDC grant to gather accurate, up-to-date information about the medical costs of care for children with orofacial defects, as well as to develop an accurate picture of the timeliness with which these families received healthcare services.
"There is a recommended timeline for when children with these defects should receive certain services, including their first cleft repair surgery, speech therapy and genetic services," Cassell noted.
In 2006, Cassell traveled to the CDC as part of an elite group chosen to establish priorities for kids with clefts. Since then she has focused her research on children with craniofacial defects.
As president-elect of the National Birth Defects Prevention Network, as well as through her involvement with the American Cleft Palate-Craniofacial Association and Cleft Palate Foundation, which offers a helpline so families can call with questions, Cassell is hoping to affect health care policy.
"We need to make sure these children receive the necessary insurance to cover their costs of medical care and in doing so, make sure they have continued coverage. Some states, mandate coverage for children with autism, heart defects, and clefts," Cassell said. "In North Carolina, we have mandated coverage for children with clefts, but a lot of parents are unaware of this because no one tells them."
In 2004, hospital costs for stays due to birth defects totaled $2.6 billion, according to Cassell. Most cost estimates are due to medical use and some health service use.
"Current cost estimates we have severely under-estimate the lifetime costs because they don't take into account special education and out-of-pocket/caregiver costs," Cassell said.
Access to consistent, coordinated care not only impacts the bottom line; it also impacts quality of life.
"We know from studies of children with special health care needs that not having a regular source of care leads to greater service use, more secondary conditions, such as attention deficit disorder and developmental disabilities, and higher costs, thus leading to poorer health outcomes. Having a regular source of care is directly related to having insurance."
Cassell recently received the March of Dimes Basil O'Connor Starter Scholar Research Award to conduct a comprehensive study of children with birth defects. This study will examine: 1) patterns and predictors of hospital use, referral to early intervention, and costs for children with birth defects; 2) timeliness of hospital services; and 3) effects of health insurance, both public and private, and residential location on hospital use, referral to early intervention, cost and timeliness of services.
Cassell's research could potentially impact the medical community, policy makers and ultimately, children with birth defects and their families.
Simultaneously, researchers all over the world are working diligently to identify the causes of birth defects (66 percent of the causes remain unknown, according to the March of Dimes), while the moral and ethical implications of scientific advances, such as genetic testing, are debated in the public sphere.
In the midst of it all, families like the Lynch's, touched by extraordinary circumstances, lead mostly ordinary daily lives…and are grateful for every minute together.
"Families adapt based on what they're presented. When I don't get the worst case, it's a celebration — because that's where we've been," Lynch said. "We don't take ourselves too seriously."