Lacey Roche

The case of the vanishing baby

When Lacey Roche first came to Children's Hospital she brought along an unsolved case of “Who Done It?” The culprit arrived on the scene with no clues to its identity.

Born 7 pounds, 6 ounces in September 2008, Lacey presented no evidence of her health problems until about a week after her birth. “She was eating more than what any newborn should have been eating,” says Lacey’s mother, Lisa Roche. “But she wasn’t gaining any weight.” Soon Lacey was vomiting after every feeding. Under the direction of the Roche’s primary care physician in their hometown of Modesto, Lisa switched her daughter’s formula more than five times within her first 16 days of life, but Lacey showed no improvement.

Lacey also experienced such horrendous episodes of pain she would arch her back and scream throughout the night. “I thought she was going to die, she was that frail looking,” says Lisa. “It was absolutely horrible.” Lisa desperately sought answers, but even inpatient stays at a local hospital yielded little results. The cause of Lacey’s severe emaciation and growth failure remained unknown.

The Roches’ primary care physician referred her to Children’s Hospital Central California, where a multidisciplinary team perfectly suited to solve the mystery took on the case.

Subspecialists at Children’s Hospital investigate

Lacey was initially seen by Dr. Susan Winter, medical director of genetics and metabolism at Children’s Hospital. “Lacey presented with severe growth failure, despite a vigorous appetite and a happy disposition when free of pain,” says Dr. Winter, who immediately admitted Lacey to the Hospital after witnessing one of the infant’s intense pain episodes.

“It was extremely hard, I was at my breaking point,” says Lisa. “It was like she was trying to escape from something in her body.” At 5 months of age Lacey weighed only 9 pounds and was too weak to feed on her own.

Clinical dietitians and pharmacists worked with Lacey’s physicians to provide pharmaceutical and nutritional care through an IV to sustain her while the medical team began investigating her diagnosis.

Dr. Winter initially suspected diencephalic syndrome, a rare malignant pediatric brain tumor that causes extreme weight loss. She ordered brain X-rays and was surprised when the tumor was not identified.

Several pediatric subspecialists at Children’s joined Dr. Winter on the mysterious case. Dr. Berkley Powell, clinical geneticist at Children’s Hospital, came alongside Dr. Winter to order a series of diagnostic procedures for Lacey, beginning with a chromosome test.

Dr. Syed Hamid, pediatric gastroenterologist at Children’s, performed a liver biopsy, which showed signs her small bowel was not absorbing fat. Laboratory tests also offered clues that Lacey’s health problems might involve fat absorption. A peripheral blood smear revealed approximately 30 percent of her red blood cells showed acanthocytosis – irregular shaped red blood cells associated with fat malabsorption disorders. Lacey’s low Vitamin A, D, E and K levels also demonstrated deficiencies with fat absorption. And finally, a stool analysis showed abnormal levels of fat.

Several clues point to unsuspected culprit

Together these findings uncovered Lacey’s diagnosis: Abetalipoproteinemia (ABL), a rare genetic metabolic disorder with only about 100 cases reported worldwide. “It was the first case of this I had seen in my career,” says Dr. Winter. The fact ABL attacked at such a young age made Lacey’s case even more unusual. “It was the earliest presentation anyone had seen.”

As Dr. Winter treated Lacey with Vitamin E, fellow Children’s colleagues, Dr. Joseph Shen, clinical geneticist, and Ann-Marie Roberts, clinical dietitian, collaborated to create a specialized formula tailored to Lacey’s needs. After a couple days, Lacey began gaining weight to her mother’s relief and joy.

Now an active 3 year old, Lacey loves to play outside on the family’s farm in Modesto. “She has really blossomed,” says Dr. Winter. She eats a natural low-fat diet and visits Children’s genetic medicine and metabolism clinic regularly.

The super sleuth medical team at Children's Hospital Central California cracked Lacey’s elusive case. “If she hadn’t been admitted to Children’s, she would have died,” says Lisa. “I love the Hospital, everyone there was great.”