No One Knows: Lack of birth defect tracking leaves parents, agencies with few choices
When one woman, then two, then three had babies with similar and usually fatal birth defects in a short span, the hospital could have asked the state for the latest statistics on anencephaly -- when babies are missing parts of their brain or skull -- to find out whether they were seeing something alarming or just something random.
But these babies were born in Washington. Not Colorado. Or Oklahoma. Or Iowa. Or any of the other 14 states (plus Puerto Rico) that actively gather information about birth defects.
Washington makes birth defect reporting voluntary. And it has so little faith in its own findings that it doesn’t even report them to federal health agencies.
As a result, the process of figuring out what was going on around Yakima, Washington, in 2012 actually took much longer than it should have and yielded much less rigorous results because the CDC and the state had to create a dataset to study on the fly. They weren’t measuring against national totals or state totals. They were measuring a small group of women who had babies with anomalies against a slightly larger group of women who had babies without anomalies.
And what did they find? JoNel Aleccia at NBC News wrote in February:
They examined where the women worked, what diseases they had, whether they smoked or drank alcohol, what kind of medications they took and other factors. They looked at where they lived and whether they got their water from a public source or a private well. They looked at race and whether the problem was more pronounced in the area's migrant farm workers or in other residents. In the end, there was nothing — “no common exposures, conditions or causes,” state officials said — to explain the spike. “No statistically significant differences were identified between cases and controls, and a clear cause of the elevated prevalence of anencephaly was not determined,” the CDC wrote.
The CDC recognized the limitations of the data. Because they were drawing on a small group of medical records for a short span of time and not analyzing a time series of comprehensively collected data from across the state (let alone country) they knew going in that the outcome likely would not be satisfying for the parents or the agencies. Aleccia wrote:
The results were disappointing, but not entirely unexpected, said Jim Kucik, a health scientist with the CDC’s Birth Defects Surveillance Team who reviewed the results. There’s not usually one single factor that causes such birth defects and it can take an examination of a much larger population to find when something’s wrong. “This cluster is fairly small in size. It makes it challenging to find that smoking gun,” he said. A group of birth defects can appear to be related, when it’s actually just coincidence, Kucik added. “I think that there is a lot of frustration when dealing with these type of cluster investigations because they end up without a lot of answers,” he added.
Then there is the question of whether the families of the children of birth defects should be told that other parents also have recently given birth to children with the same birth defects. Without a tracking system, it’s impossible to know whether the numbers are a random uptick in one location or whether they are a true deviation from the norm. Given that, what should parents reasonably expect to be told? When someone is being treated for Dengue fever, for example, the state doesn’t follow-up with them to say that there were multiple cases of Dengue fever in the area around the same time. Still, at least some of the parents seem to have had the expectation that they should have been notified. Aleccia wrote:
“I had no idea,” said Andrea Jackman, 30, whose blue-eyed daughter, Olivia, was born in September with the most severe form of spina bifida. “I honestly was really surprised that nobody had said anything. If my doctor hadn’t wanted us to see the geneticist, I wouldn’t have known.”
She would have known had she read her local paper.
Molly Rosbach at the Yakima Herald-Republic wrote about the rise in cases in January 2013 and about the investigation’s findings in July 2013. News about the birth defects also appeared on ABC’s KAPP TV and in the Seattle Times. But we know that the news cycle can run right by people. I wouldn’t have known about this story had a friend of mine – a former fellow Yakima Herald reporter – not sent it to me via Facebook.
In July 2013, the Washington State Department of Health issued a press release about its joint investigation with the CDC. Here’s what it said:
State and local public health investigators found no significant differences between women who had healthy pregnancies and those affected by anencephaly, a rare neural tube defect. Anencephaly is a fatal birth defect that results from incomplete formation of the brain during the first month of pregnancy. An unusually high number of anencephaly cases in Washington prompted the study, which was led by the state Department of Health in cooperation with local health officials and the Centers for Disease Control and Prevention. Typically, one or two anencephaly cases would be expected in about 10,000 annual births. The investigation found about eight cases per 10,000 births in the three-county area of Yakima, Benton, and Franklin. … The study examined medical records from January 2010 through January 2013 and looked at possible risk factors including family history, pre-pregnancy weight, health risk behaviors such as supplemental folic acid and medication use, and whether the woman’s residence received drinking water from a public or private source. No significant differences were found when comparing cases of anencephaly with healthy births in the three county area. Although the number of affected pregnancies was large for this area, larger numbers are often needed to identify causes. Medical record reviews might not have captured all information, preventing a cause from being identified. The higher than expected number of anencephaly births in the region could be coincidental.
But, because the state did not reach out to families directly, some parents feel that crucial information was withheld from them. I think that’s a key question raised by Aleccia’s story. What would parents actually do if they were told that there were a higher than expected number of cases of babies with birth defects happening around the same time that they were pregnant or just recently had a child? The parents she interviewed for her story are no different from anyone else. We expect instant, satisfying information on every topic. On the one hand, the parents say they wish someone had told them there were others with the same problem. On the other hand, it’s not clear that they would have done anything differently.
Aleccia’s example of Andrea Jackman and her daughter Olivia illustrates this perfectly.
“The doctor who did the ultrasound said she’d be in a wheelchair the rest of her life. He pretty much told us she’d be a vegetable,” said Jackman, who now lives with Olivia at the home of her aunt and uncle in Ellensburg, Wash.
The news was devastating, and Jackman initially considered ending the pregnancy.
“Then I decided that it wasn’t my decision to make,” she said. “If she wasn’t going to live, it wasn’t going to be my decision.”
That choice was a good one, she said, cradling a smiling Olivia as they waited for a medical appointment at Seattle Children’s Hospital. The tiny girl has survived surgery to close the gap on her back and endured multiple MRI procedures to measure the fluid inside her brain. So far, she hasn’t needed a shunt to drain fluid, and she’s meeting all typical developmental milestones.
Had Jackman been told before she gave birth or shortly thereafter that there were a cluster of children being born with the same birth defects and that they all likely would end up being vegetables, would she have been more likely to terminate the pregnancy? Less likely?
It’s hard to say. But what’s clear is that state and federal agencies are working with only a smidge more information than what is being communicated directly to families.
The fact that they didn’t reach out directly to families to communicate this sketchy information shouldn’t come as a surprise. Hopefully, the knowledge that only 14 states and one territory are trying to make birth defect information more comprehensive and more useful is surprising.
Image by goldberg via Flickr
Read more:
Birth defects go untracked – even unnoticed – in most states
Stillbirths and Infant Health Risks Higher in California’s Artificially Conceived Infants