The babies were born without brains and no one knew why. Between 2010 and 2014, dozens of infants in three central Washington counties died of anencephaly, a typically rare birth defect. The gruesome disorder results in underweight, undersized newborns lacking large portions of their brain and skull. Almost all babies born with the condition die shortly after birth.
Only three pregnancies in every 10,000 result in anencephaly each year in the U.S., so when more than 40 mothers in Benton, Franklin and Yakima counties reported losing children to the defect, public health officials were perplexed.
Lacking data on birth defects in general, and anencephaly in particular, the state's response came under fire. A December 2015 Seattle Times report said, "officials tasked with solving the mystery may have missed opportunities for answers."
"They have not contacted most of the women who lost babies to anencephaly," wrote the Times. "They have not reached out ... effectively ... to tell families how the disorder might be prevented.
The Washington birth defect cluster is still a mystery, as are a great number of birth defects: The Centers for Disease Control estimates as many as 3 percent of all births suffer a defect of one kind or another.
Unknowns dominate every aspect of birth defects—of the "thousands of different birth defects," according to the National Institutes of Health, "birth defects go untracked—even unnoticed—in most states," stated to a report from the Annenberg Center for Health Journalism.
Considering that birth defects are a parent's worst nightmare, the paucity of systematic, national tracking of their occurrence is baffling. Dr. Penny Beach, chief clinical officer for the Family Medical Residency of Idaho agrees.
Beach worked as a family doctor in Canyon County for Terry Reilly Health Services from 2001 to 2010 and, during that time, she delivered 600 babies. Of them, she said "I couldn't even tell you" how many were born with defects, but could recall five off the top of her head.
"When I was in practice in Canyon County, I felt like I was just this unlucky doctor because I would see all these kids with problems. I knew it wasn't the care I was providing," Beach said.
Beach, with her staff of community health workers, practiced both obstetrics and pediatrics with a focus on serving the Latino communities in the western Treasure Valley farm country.
"Just my general sense working out in that area is that there was a higher prevalence of birth defects," she said. "I wonder a lot about pesticide exposure in that population."
Beach said she heard reports from others noticing the same thing: babies were suffering from disorders including transposition of the great arteries (in which the heart "gets connected totally backwards") and bowel disorders (notably where the bowels don't form right so there is a blockage in the intestines). Thrown in were vitamin deficiencies and a host of other complications.
"Those cases are all heartbreaking," she said.
Concerned about what health workers were seeing, Beach started researching trends to track down a cause and, hopefully, come up with a plan to prevent further incidents. When she went to access historic data, however, she came up short.
"It was really hard to research," Beach said. "I kind of hit a brick wall."
As it turns out, her observation was backed by the data. According to the Idaho Department of Health and Welfare, 24 non-Hispanic babies were reported to have died in Health District 3, which includes Canyon County, in 2014. Of those, 23 were white and one was black. In that same timeframe, 13 Hispanic babies died—a "significant difference in the rates of ethnicity based on the 95 percent confidence interval," IDHW Research Analyst Supervisor Pam Harder wrote in an email.
Having ready access to that kind of data would be "really useful" to Beach.
"I could figure out whether my supposition could be totally wrong," she said.
But Idaho is one of six states that do not have a birth defect registry—a system whereby specific birth defects are catalogued, the children are tracked for years to assess what kinds of interventions are most effective, and the conditions surrounding their birth are reported to national birth defect data clearinghouses like CDC and the National Birth Defect Prevention Network. In total, 44 states have some kind of registry in place. Idaho received an "F" for its state monitoring program from the Trust for America's Health.
"Despite the effectiveness and value of birth defects registries, too many states do not have adequate programs," the organization wrote.
That includes the Gem State.
"I've noted that Idaho is one of probably six states that have basically never done anything to set up a registry," said University of South Florida professor Dr. Russell Kirby, who serves on the executive committee of the NBDPN.
Meanwhile, according to IDHW numbers, Idaho's infant mortality rate from birth defects has exceeded the national average 12 of the 16 years from 1999 to 2014, peaking in 2002 when the infant mortality rate of 241.3 per 100,000 births was nearly 100 deaths higher than the U.S. average. In 2014, the most recent data available, that number was 135.4 deaths per 100,000—16.4 higher than the average.
While Idaho's number of total birth defects is within range of the national average, its infant mortality is not. Much of that has to do with the rural nature of the state and its attendant health care challenges. Idaho has long suffered a shortage of doctors, "and that has to weigh into it," said IDHW spokesman Tom Shanahan.
"There would be value there [to setting up a registry]," he said. "Seriously, it would be nice to participate."
That's where the politics enter the maternity ward.
"The registry would be valuable, there's no question," Shanahan said. "But the question is could we afford it and what would be the actionable items we could do from the registry?"
Kirby has helped set up 20 state registries and, while it is a boon to researchers to have such robust amounts of data with which to analyze occurrence, type and result of birth defects, he bemoans the fragmented nature of the system.
"What basically happened with birth defects is there were some methodologies that had been developed by individual states, and many earlier programs modeled their program after the CDC's Atlanta [Ga.] program, which is really the oldest comprehensive program in the country," he said, [but] few states were willing to allocate resources to implement the Atlanta approach comprehensively. ... So we started having a variety of less comprehensive methodologies being established."
To date, 14 states operate birth defect reporting systems funded at least in part by CDC. Idaho, though it received upwards of $600,000 from CDC between 2010 and 2015 for birth defect-related efforts (including early hearing screenings), is not one of them.
In other words, while most states have some kind of birth defect reporting mechanism, the state-by-state approach is still a hodgepodge—so much so that it's unclear even at the national level how many children are born with birth defects, much less how to prevent them.
Kirby said his organization is asked to investigate birth defect clusters on a regular basis, including in Florida, where concerns about the Zika virus, which frequently causes microcephaly—similar to anencephaly in that it affects brain growth—are well founded.
Still, lack of reliable data is a hurdle.
"Those kinds of things [investigations into birth defect clusters] are really hard to come up with any definitive conclusions," he said. "The public has a right to know and we want to give them an answer, but it rarely works out that we can give a definitive answer."
In the end, it all comes down to funding. Kirby makes a parallel to cancer data registries, on which birth defect registries have been modeled. Prior to 1990, only a few states had reporting systems to gather crucial data on the many varieties of the disease. Then between 1990 and 1992, CDC received funding from the U.S. Congress to disperse to states, setting up cancer data registries to be guided by a set of standardized rules.
"Twenty-five years later, they have an established structure that works well," he said. "We have never had the resources that cancer has had."
Kirby isn't complaining—he understands more people will contract cancer than will suffer birth defects—but, "in the general scheme of things, the resources to actually do birth defects justice have not been there."
Darkly, Kirby suggested pro-life politics may be in part to blame. Speaking of the anencephaly cases in Washington state, he said, "In our country there's a certain antipathy to abortion. Well, one of the conditions that people are most likely to get an elective termination for after having prenatal diagnosis is anencephaly. After all, you're dealing with a fetus that basically has almost no brain, is definitely going to die. Would you want to carry that pregnancy to term? Some women decide no, they don't, and so they have a termination. Our birth defect surveillance is not geared up to catch those cases, so we don't really know what the baseline is."
The sparseness of coherent data is also due partially to the birth defect community itself. Kirby said unlike cancer, which is addressed in a global sense—that all cancers must be tracked, treated and prevented—the birth defect community is as fragmented as its monitoring systems.
"Families who have a child with a birth defect identify with support groups for that particular birth defect and not globally with the idea of birth defects in general," he said. "So it's been with the Spina Bifida Association ... they were able to advocate before Congress and got several programs set up for spina bifida. Likewise, there are programs supporting Down syndrome, more recently congenital heart disease. But the programs that end up being funded from those are specific to those particular conditions, and they don't support the more general activity of birth defect surveillance. Somehow, with cancer, the American Cancer Society and other advocacy groups have been able to make a more coherent case for public health programs for cancer over all."
The issue, ultimately, rests with the Idaho Legislature. Shanahan, at IDHW, said Idaho health policy experts have looked at establishing a registry in the past, but it was a non-starter because of budgetary concerns.
"We did look at the registry pretty carefully because there was interest in it, but I think, honestly, the expense of it and the resource intensiveness of it for the people it would require is fairly high. It's much like a cancer data registry, only on a smaller scale," he said. "If you look at some of the states that are doing it and doing it well, they're following these kids into their teen years, and that's what you really need to do. We looked at it and we didn't know how we would support that budget-wise."
According to House Minority Leader John Rusche (D-Lewiston), who is also a doctor, "The Legislature has been hesitant to develop registries at all. Whether it's illness-based studies or illness results of medications, due to concerns over privacy and cost."
Part of that cost is setting up the structure under which birth defect data gathering would be conducted. Rusche said that while 95 percent of all births take place in a hospital, with detailed record keeping, not all birth defects are immediately diagnosable—meaning birth defect tracking is a multi-year process, and one that Idaho has been reluctant to pursue in large part due to politics.
"Some of us have been pushing for better health care data for years and years, but [it] never gets anywhere," he said. "This is more a concern about interference with personal freedom and personal information."
The fragmentation—the inherent uncertainty of birth defects—has also been a barrier.
"Another thing we were concerned about is that the surveillance methods used by states are all different. ... Some of them were just phenomenal. New Jersey, California, they really did just a super job. Other states were fairly minimal and they didn't verify data," Shanahan said. "There's no aggregate to show nationally what we're looking at, and that is something Idaho would have been really interested in, for us to all do it the same way so we could use aggregate data."
Until then, state health officials, like parents, will have to cross their fingers that everything turns out alright.
Recalling an epidemiology class he taught in the early '90s, Kirby told a story about a colleague who delivered a guest lecture in which he asked students to imagine if they were "the king of Siam." What would they do to organize health care in their country?
"If I was the king of Siam and could organize birth defect surveillance," Kirby said, "there's a couple of things that are problematic. One of them is that we have states and each state has its health authority unto itself. We need national standards. We basically need to change the paradigm for birth defect surveillance to where everything comes from CDC. They provide the funds but the states have to follow their procedures and protocols to collect the data. Now, that's not what we have."