SEATTLE — Nearly three years after nurse Sara Barron first sounded the alarm about a spike in rare birth defects in Central Washington, state health officials have begun interviewing area women who lost babies to the devastating condition known as anencephaly.
Since Jan. 1, investigators have talked to 10 mothers who have carried babies with anencephaly, which causes infants to be delivered missing parts of the brain and skull.
Eventually, officials plan to speak to more of the nearly 40 women included so far in the mysterious cluster of birth defects, with rates at least five times higher than the national average.
So far the problem has stumped local, regional and national experts, who say they can find no cause for the increase.
Now, they’re hoping one-on-one conversations will yield crucial information about living and working conditions, health habits, environmental risks and other factors that could be responsible.
“This is a really concerning health issue for us,” said Dr. Kathy Lofy, the state health officer. “It’s a high priority for our department.”
But critics — including Barron — said they worry the state has moved too slowly, jeopardizing potential answers, even as cases of the tragic condition continue to rise.
“I have found it very, very frustrating,” said Barron, 59, a registered nurse who first reported an increase in anencephaly cases at tiny Prosser Memorial Hospital in August 2012.
“These are babies, for god’s sake,” she added.
Anencephaly is a rare birth defect caused when the neural tube, which forms the brain and spinal cord, fails to close properly during early pregnancy, causing fatal deformities in the brain and skull. Many such pregnancies end in abortion or miscarriage, but some are carried to term, with the babies either stillborn or surviving for hours or, at most, days.
From January 2010 to October 2014, 38 cases were reported in Yakima, Benton and Franklin counties. As of 2013, the latest year of full records, that translated to a rate of about 11.1 cases for every 10,000 live births — more than five times the national rate of 2.1 cases per 10,000.
And the problem might date back further. A Department of Health analysis of state vital statistics data between 2003 and 2013 found rates of anencephaly and spina bifida, another neural tube defect, at five cases per 10,000 in the three-county region, compared to 2.4 cases per 10,000 for Washington state as a whole.
That makes determining a cause even more difficult, Lofy said.
“When rates have been elevated over a long period of time, most experts believe that anencephaly is caused by multiple factors clustered together,” she said.
The numbers have continued to climb following a 2013 report published by the Centers for Disease Control and Prevention (CDC). That analysis examined the medical records of women with affected pregnancies and compared them with women with healthy pregnancies treated at the same clinics.
Investigators reviewed basic social and economic data, plus information such as where parents worked, what kind of health conditions the mothers had, what medications or supplements they took and whether the families used water from a public source or a private well.
They were looking for initial evidence about whether the problems were obviously tied to known causes of neural tube defects, such as low folic-acid intake and exposure to neurotoxins in pesticides used in agricultural areas and nitrates in well water.
The study, however, found no statistically significant differences between the women with healthy pregnancies and those affected by anencephaly. There was nothing — “no common exposures, conditions or causes” — that could explain the problem, health officials reported.
CDC officials said the lack of a clear outcome is almost expected in birth-defect clusters, which can appear suddenly and recede just as quickly, amounting to a puzzling — and tragic — coincidence.
“Although cluster investigations have historically provided few answers on causes, they can be a way to generate more clues that can be further investigated,” said Dr. Richard Olney, a medical geneticist with the CDC’s National Center on Birth Defects and Developmental Disabilities.
However, critics say state officials and the CDC have failed to follow up promptly enough to collect those crucial clues. The initial investigation reviewed only medical records. No patients were interviewed— and no one notified any of the families that they were part of a growing cluster of devastating birth defects.
That approach surprised Allison Ashley-Koch, a professor at the Duke University Center for Human Genetics, an expert on anencephaly. In-person interviews would be crucial for uncovering vital factors not apparent in medical records, she said.
“This could help CDC identify a potential environmental or medical component amongst the families,” she wrote in an email.
It wasn’t until early 2014— after forming an advisory committee to focus on the anencephaly problem— that state officials agreed to expend the money and time necessary to conduct in-person interviews. They were first scheduled for last August, then November, before beginning in January.
Lofy, the state health officer, and Dr. Cathy Wasserman, a state epidemiologist, said officials were gathering data about the scope of the problem, reaching out to doctors to identify patients and putting plans in place to conduct multiple, detailed, hourlong interviews.
“We spent a lot of time making sure that we were going to use a questionnaire that was detailed and complete and would collect information in a standard and open-ended way,” Lofy said.
The delays have been frustrating to advocates eager to solve the problem.
“My concern is we aren’t saying to the community loud enough and big enough: ‘Here’s what anencephaly looks like and there’s no reason your community should have a rate four times, five times, six times higher than the national rate,’ ” said Dr. Jennie McLaurin, a bioethicist and specialist in child and migration health for the Migrant Clinicians Network, a nonprofit agency with an office in Ferndale, Whatcom County.
“It has been very slow. I’ll just say that,” she added.
The lag may mean some families affected by the crisis won’t be included in interviews because they’ve left the area.
Jocelyn Robles, a 23-year-old farmworker from Yakima, was receiving genetic counseling last May to help her cope with the news that the child she was carrying had anencephaly. She spoke at a public meeting, demanding that state officials find out what was causing the cluster.
“At this point, you don’t know anything about that, right?” Robles said.
The child was due in October, but long before that, Robles stopped answering phone calls and emails. Susie Ball, a genetic counselor at Yakima Valley Memorial Hospital, said the young woman “completely disappeared.”
Even when families can be reached, delays can impair their recollections of the factors that might reveal a common cause, Ashley-Koch said.
“The more time that passes, the more difficult it will be for the families to provide those details,” she said.
Still, state officials are hopeful the interviews will offer new clues. They’re using a questionnaire based on the CDC’s National Birth Defects Prevention Study, which included mothers of more than 30,000 babies both with and without birth defects.
The tool includes detailed questions tailored to the Washington state cluster, including queries about diet, pesticide use and where parents lived at the time of conception.
There have been other clusters of anencephaly in the United States, including a high-profile incident in Texas in 1991, in which three babies with anencephaly were born in a Brownsville hospital within 36 hours. Years of research and surveillance eventually traced the problem, in part, to a lack of folic acid in the diets of the mostly Hispanic women who lived on the Texas-Mexico border. Obesity and diabetes were considered factors, as was exposure to grain molds known as fumonisins.
Theories about potential causes of the Washington state anencephaly cluster abound, from the effects of agricultural pesticide use to fallout from the nearby Hanford nuclear cleanup site. State officials said there’s no evidence to date of any link.
So far, the only potential tie to the birth-defect cluster are low rates of folic-acid use among young women in the region.
Folic acid is a B vitamin that can be found in certain foods, fortified grains and multivitamins. Supplements are recommended for all women of childbearing age, even if they’re not planning to become pregnant, because folic acid can prevent neural tube defects that occur in the first weeks after conception. But only 40 percent of recommended women in the three-county area take the supplement as directed. Among those with affected babies, the figure is even lower— between 10 and 20 percent.
There has been a push in the local communities to highlight the need for folic acid, including outreach to Hispanic women, who are at higher risk for neural tube defects. But Ball, the genetic counselor, wonders whether her potential patients are getting the message.
“It is really uncommon to find a woman who took folic acid prior to conception,” she said.
The interviews should be complete by mid-March, with a report on initial findings expected by summer or fall, Wasserman said. That’s not soon enough for many, but Ball said she believes state officials are taking the problem seriously.
“My impression is they are working very hard to figure this out,” she said. “It’s frustrating for all of us that we haven’t been able to find the cause.”
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