Spina bifida is the most frequently occurring permanently disabling birth defect to affect the nervous system.
Jeffrey Blount, M.D., MPH, knows the struggles of patients with spina bifida (SB). He and his colleagues in the Division of Pediatric Neurosurgery at Children’s of Alabama and the University of Alabama at Birmingham (UAB) have seen them firsthand—hydrocephalus, lower extremity paralysis, sleep apnea, pressure sores, variable incontinence, and the frequent need for multiple surgeries. Other doctors providing SB care see urologic, musculoskeletal, orthotic and ambulatory problems. A few years ago, the desire to address these issues led Blount to a big idea—one that would help not only his patients, but others around the world. In 2019, he co-founded the Global Alliance for the Prevention of Spina Bifida, or GAPSBiF, an organization dedicated to increasing awareness and advocating for the prevention of SB through large-scale food fortification with folic acid (FA). It’s already affecting change.
Blount is the medical director of the Pediatric Spina Bifida Clinic at Children’s of Alabama—one of the largest clinics of its kind in North America, following about 450 children. The medical professionals in the clinic work with those at the Adult Spina Bifida Clinic at UAB, which follows about 250 adults. In founding GAPSBiF, Blount partnered with Gail Rosseau, M.D., an international leader in global neurosurgery; Adrian Caceres, M.D., a Costa Rican neurosurgeon who accomplished widespread fortification of FA in Costa Rica; and Colombian neurosurgeon Kemel A. Ghotme, M.D., Ph.D., who had just completed a Ph.D. in Global Health Policy with a focus on FA fortification. One of the GAPSBiF’s major strategies for preventing SB was working with other neurosurgical and nutrition directed organizations in putting together a resolution that called upon all World Health Assembly (WHA) member states to embrace micronutrient fortification including FA to prevent SB. Resolution 76.19 was introduced by the Colombian government and 37 other member states and went through a rigorous process of vetting. In May, the WHA adopted it.
“This has real potential to favorably and fundamentally impact the global prevalence of SB and other micronutrient dependent diseases,” Blount said. “It is an essential step toward overcoming the stalled progress on the prevention of spina bifida.”
Spina bifida and folic acid
SB is the most frequently occurring permanently disabling birth defect to affect the nervous system. It results from the spine’s failure to close properly during the first month of pregnancy. The cause of SB is not fully understood, but it is thought to be associated with both genetic and environmental factors. The most important environmental factor is maternal intake of dietary FA, a B vitamin that is critically important in development and has long been known to reduce the risk of neural tube defects (NTDs), such as SB.
Nutritional shortage of FA in women of childbearing age is the most important contributor to SB prevalence worldwide. Many women supplement FA in their diet by taking 400 micrograms of FA while pregnant. But, in some cases, that’s not soon enough. “This problem of spina bifida occurs so early on in development that it has already occurred before most women even realize they’re pregnant,” Blount said. “So, it’s not like they can realize they’re pregnant, change their nutritional strategy and put up an effective barrier for this problem. Once they realize they’re pregnant, if they have the problem, it’s already occurred.” Fortifying widely consumed foods such as corn, grain or rice is more effective, which is why GAPSBiF works so hard to promote this strategy.
Evidence that fortification helps
In the U.S., mandatory fortification of enriched cereal grain products with FA was authorized in 1996 and fully implemented in 1998. Here, NTDs, including SB, affect approximately seven out of every 10,000 births. The rates in other regions that fortify are similar. In regions that don’t fortify, NTDs affect up to 150 births per 10,000.
But some countries—even advanced Western European nations—still are not practicing fortification, and, in many cases, are focused more on detection. But that approach can be problematic, Blount says. “Some places are very aggressive at terminating those pregnancies, which of course is a very difficult, very challenging, whole approach to problems. But it’s surprisingly widespread.”
GAPSBiF’s approach is centered around prevention. “Let’s keep these little children from getting this terribly difficult disease,” Blount said, “because it’s lifelong.”
The role of GAPSBiF
When Blount and his colleagues were forming GAPSBiF, they spoke with neurosurgeons from around the world. Even in North America, where fortification is already commonplace, SB takes an exhausting toll on patients, families, the health care system and the neurosurgical infrastructure. In many other countries, it’s much worse—due not only to the lack of fortification, but also because there are far fewer neurosurgeons per person. “A big part of their life and their world is taken up caring for these children,” Blount said. “And it prevents them from being able to do other things, such as taking care of people with strokes, taking care of people with trauma, things like that. So, it overloads an already challenged workforce.
“We saw this, we came together as a group, and we said, ‘Neurosurgery sees this. Neurosurgery knows this disease. We have a front-row seat to all these problems. So, why don’t we try to organize in such a way that we work with other agencies to try and attain this goal of universal fortification?’ ” Blount said.
“We know that if we can get folic acid into population food supplies, that up to 90% [of the SB cases worldwide] can be profoundly reduced,” Blount said. “Right now, the best studies suggest that we are collectively preventing less than one quarter of the global burden of SB.”
Fortification is not perfect, though. Blount emphasizes that while it can markedly reduce the prevalence rate of SB, it cannot completely eliminate the disease. That’s why he says that women and families who live in regions that fortify should not blame themselves for their child’s SB due to insufficient FA intake. “No woman should ever say to herself, ‘If only I had taken more folic acid, my child would not be affected,’ ” he said. Regulations for mandatory fortification of wheat flour with FA are currently in place in 60 countries, although in many cases, these regulations have not been implemented. Moving forward, Blount and his colleagues with GAPSBiF will remain active and invested in monitoring the resolution’s progress and working one-on-one with countries, guiding them in their national and regional implementation plans.