Something was different about Eli. He had had a hearty appetite since birth, so when he refused his first tastes of solid food at 4 months his mother wasn’t worried — at first.
Jessica Dizon thought her third son might be a bit slow to expand his horizons beyond breast milk but would soon come around.
When he didn’t, his pediatricians in Charlottesville counseled patience, then recommended an occupational therapist who treats infant feeding problems.
But by his first birthday in December 2021, when Eli still refused to eat solid food or drink formula from a bottle, it was clear something serious was wrong. He was losing weight and regressing developmentally.
“He looked very frail,” recalled Dizon, now 38. Her previously happy baby was listless and cranky and no longer cruised around furniture or babbled enthusiastically.
Dizon would soon learn that her son’s alarming deterioration was not the result of a typical feeding problem. The specialist who treated Eli noted that his disorder can be overlooked in infants but is easily remedied if caught in time. If left untreated, it can cause permanent brain damage.
“Eli taught me a ton and so did his mom,” said Stephen M. Borowitz, a professor of pediatrics and public health at the University of Virginia School of Medicine, who treated him.
“I want people to be more aware [of this] given the huge pressure for women to breastfeed for extended periods of time,” Borowitz said.
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Spurning food
Eli, who was born in December 2020, was an easy baby from the start, his mother said. Like his brothers, who are three and five years older, he began nursing immediately without problems.
At 4 months, Eli was offered baby cereal mixed with breast milk. When that failed, Dizon tried to entice him with the pureed sweet potatoes and other foods his older brothers had gobbled up.
But Eli repeatedly pushed the food out with his tongue and later cried when she tried to spoon-feed him.
At 6 months, he started gagging or choking when offered solid food and later refused formula from a bottle.
At Eli’s six-month checkup, Dizon raised the problem with his pediatrician. “She wasn’t worried and told me he was getting nutrients from breast milk” and was growing normally, Dizon recalled.
“I felt constant worry and stress. I’d had two healthy children.”
— Jessica Dizon
But by 9 months, Eli’s condition had worsened. Although he had been sleeping through the night, he started waking up once or twice to breastfeed. He began vomiting after feedings and developed two small flat sores under his tongue that seemed painful. His mother pointed them out to the doctor.
Dizon, who was then working from home more than 40 hours a week as a mortgage loan officer while simultaneously caring for three children under 5 during a pandemic, said she felt increasingly anxious about Eli. Her husband was working long hours.
“I felt constant worry and stress,” she recalled. “I’d had two healthy children.”
The pediatrician, a different one than the doctor who had seen Eli at 6 months, tried to reassure her. She told Dizon that some babies have an aversion to unfamiliar textures and referred her to an occupational therapist who treats feeding problems.
But weekly sessions with the therapist, who suggested various techniques including the use of different spoons, were a bust.
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‘Failure to thrive’
A month later Dizon took Eli, then 10 months old, to the pediatrician to discuss his eating. The doctor, the third practitioner she had seen in four months, advised continuing occupational therapy and told her Eli would have, as part of his standard 12-month checkup, a pinprick blood test to check his hemoglobin levels and exposure to lead, among other things.
But several days before that December 2021 appointment, Dizon was so worried she took Eli back to the doctor.
The pediatrician discovered he had fallen off the growth chart. At 1 year, he weighed just over 16 pounds, less than he had at 6 months; his height had stalled at 9 months. And he hadn’t come close to tripling his 7-pound birthweight, which is standard for the first year.
Eli was diagnosed with “failure to thrive,” which can be caused by psychological, socioeconomic or physical difficulties.
The doctor ordered a complete blood count, which involves drawing blood from a vein. The experience was traumatic: Two nurses had to hold him down. “It was awful,” Dizon recalled. “He was so little and miserable.”
Dizon said she was told that Eli was severely anemic. His vitamin B12 level was so low it was essentially unmeasurable at less than 50 pg/mL (normal is between 210-815). She was instructed to give him a daily liquid multivitamin containing iron and return in a week for another test.
While low levels of B12 are common in people over 65 whose stomachs have trouble absorbing it, the problem is unusual in babies.
Infants are born with ample stores of the vitamin, which is essential to brain development and the production of red blood cells. B12 levels drop at 4 months, the same time solid foods are introduced.
In babies, B12 deficiency is seen most often in exclusively breastfed infants whose mothers adhere to a vegan or strict vegetarian diet devoid of animal products, which are rich in B12. The problem is not seen in babies who consume breast milk and formula, which is fortified with the vitamin, or in formula-fed babies.
A week later, when Eli showed little improvement, he was referred to Borowitz, a pediatric gastroenterologist. The nurse practitioner “told me to brace myself and that he would most likely be admitted to the hospital,” Dizon recalls.
Borowitz saw him soon afterward. “He was a very miserable little guy — quite skinny and very hypotonic (floppy),” Borowitz said. “His mom was exhausted and frightened,” as well as being “a very good observer and appropriately concerned.”
Borowitz’s first task was to determine the reason for Eli’s B12 deficiency. His mother “ate a very diverse diet” Borowitz noted, and was not vegetarian or vegan.
One possibility was an inborn error of metabolism, an inherited genetic disorder that prevents the conversion of food into energy. But that seemed unlikely because symptoms often appear earlier. Malabsorption can also cause B12 deficiency, but Eli showed no signs of that.
Dizon’s medical history, Borowitz discovered, harbored the essential clue. At 14 she was diagnosed with severe Hashimoto’s disease, an autoimmune disorder that results in an underactive thyroid. People with Hashimoto’s can develop another autoimmune disorder called pernicious anemia, which blocks the absorption of B12. The process can take years to evolve and may not cause symptoms.
Borowitz said he suspected that Dizon had undiagnosed pernicious anemia, and ordered a B12 test. It revealed that she too was deficient but had no overt symptoms. She immediately began taking an over-the-counter B12 supplement, the standard treatment.
Eli had developed B12 deficiency because his mother’s breast milk lacked the vitamin. Because Dizon’s older children had been unaffected, Borowitz speculates that her anemia had not been full-blown during her previous pregnancies.
His plan, he told Dizon, was to give Eli injections of B12 along with oral supplements. If he didn’t improve fairly quickly, he would need to be hospitalized.
The gastroenterologist also ordered a test to check for methylmalonic acidemia, a rare genetic disorder present at birth that impairs the breakdown of fat and protein and can cause feeding problems and irregular B12 levels. (As expected, it was negative.)
“He kept telling me this was not my fault,” Dizon recalled, choking up as she remembers the shock and guilt she felt. “Dr. Borowitz was just really, really kind.”
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A rapid recovery
Within 24 hours of his first B12 shot, Eli began to perk up.
“It was such a relief,” Dizon said. “He wasn’t throwing up and began nursing ferociously, like a little wild animal” every two or three hours.
Several days later when she put a dollop of rice and beans on his tray, he ate it with gusto and quickly scarfed down other foods. He resumed cruising and babbling and began gaining weight; the ulcers in his mouth disappeared. After several B12 injections, Eli was switched to oral supplements, which were discontinued after several months.
“He looked fantastic,” said Borowitz, who last saw him in March 2022, three months after his initial visit. “It was like a different kid.”
Eli’s diagnosis also marked a turning point for his mother’s health. Once she began taking B12 supplements, she started to feel dramatically better.
“I thought the way I’d felt was normal,” she said of the fatigue and lethargy she had long experienced. She has since lost about 40 pounds and runs 15 to 20 miles a week. In April 2023, she gave birth to a girl.
“He looked fantastic. It was like a different kid.”
— Stephen M. Borowitz, pediatric gastroenterologist
Eli, who just turned 4, shows no sign of the problem that marred his first year. Despite Borowitz’s reassurance, Dizon said she feels guilty that she wasn’t a more forceful advocate and hadn’t insisted on a blood test sooner. Her pediatrician and a nurse practitioner apologized for missing the diagnosis and told Dizon they had not seen a similar case.
For Borowitz, treating Eli served as a catalyst. He searched the medical literature and found research suggesting that B12 deficiency in breastfed babies may be missed.
Studies have found that at least 5 percent of women of childbearing age suffer from autoimmune thyroid disease, and up to a third of these women develop pernicious anemia, most of whom are asymptomatic, Borowitz said.
He has written a report on Eli’s case, which was published in the medical journal BMJ Case Reports. He hopes it will alert other doctors.
Since treating Eli, Borowitz and his colleagues have diagnosed four similar cases in babies who were less severely affected than Eli. All recovered after B12 supplementation.
“This refusal to transition to solid food is common,” Borowitz said. “But now when I start hearing a story of profound aversion, I think about this.”
Dizon’s experience, he added, underscores the importance of listening to parents.
“This is an experienced mother and a perfectly normal child who was doing great and [starting] at 4 or 5 months she couldn’t get him to eat solids or drink formula. That’s an unusual story without any clear trigger,” Borowitz said.
“At least three months earlier I would have started asking, ‘What could be going on?’”
Submit your solved medical mystery to sandra.boodman@washpost.com. No unsolved cases, please. Read previous mysteries at wapo.st/medicalmysteries.
