Lacey Roche’s deteriorating health, with frequent vomiting, intense episodes of pain and severe emaciation, posed quite the mystery. No one could figure out what was causing her symptoms until a determined team of pediatric subspecialists at Children’s Hospital Central California pieced together clues from a series of tests and uncovered the diagnosis. Lacey had a rare genetic metabolic disorder with only about 100 cases reported worldwide. Her case was even more unique in that it was the earliest ever diagnosed.
“She was eating more than what any newborn should have been eating, but she wasn’t gaining any weight,” said Lacey’s mother, Lisa Roche. “I thought she was going to die, she was that frail looking. It was absolutely horrible.”
Born 7 pounds, 6 ounces in September 2008 with no complications, Lacey’s life quickly took a turn for the worse. When the infant was about a week old, she began vomiting frequently. She started breaking out in horrendous episodes of pain – arching her back and screaming throughout the night.
Several trips to Lacey’s pediatrician and a local hospital yielded little results. Within her first 16 days of life, Lacey’s formula was switched more than five times with no improvement noted. The infant required intravenous resuscitation and doctors ran a gamut of tests. The tests were inconclusive. Nothing was helping; she was vomiting after every meal. Lacey had actually dropped below her birth weight to 7 pounds, 2 ounces.
Lacey’s condition worsened. At about 7 weeks of age, she was hospitalized again following a bout with diarrhea. Her symptoms did not improve with persistent vomiting, episodes of pain and severe growth failure.
The infant’s primary care physician sought the specialized care of pediatric subspecialists at the region’s only pediatric facility and referred her to Children’s Hospital Central California. Lacey was initially seen by Dr. Susan Winter, medical director of genetics and metabolism, and the medical team at the Hospital’s Medical Genetics and Metabolism Clinic. “Lacey presented with severe growth failure, despite a vigorous appetite and a happy disposition when free of pain,” said Dr. Winter.
Dr. Winter initially thought Lacey’s failure to thrive was due to a rare malignant pediatric brain tumor causing diencephalic syndrome, a disorder resulting in extreme weight loss. She ordered brain X-rays and was surprised when the tumor was not identified. The mystery diagnosis remained.
Dr. Winter witnessed the severity of Lacey’s condition firsthand during an appointment at the clinic when the infant experienced a sudden episode of pain. Dr. Winter immediately admitted Lacey to the Hospital, where the youngster spent five weeks on Starship Discovery – one of the Hospital’s inpatient units – under the watchful eye of Dr. Aaron Reitman and the multidisciplinary care team at Children’s.
“It was extremely hard, I was at my breaking point,” said Roche. “It was like she was trying to escape from something in her body.”
By the time Lacey was admitted at 5 months old, she weighed only 9 pounds. Too weak to feed on her own, Children’s pharmacy and clinical dietitians worked side-by-side with her physicians to provide pharmaceutical and nutritional care at her bedside. Pharmacists utilized a total parenteral nutrition (TPN) compounder to create a complex, specialized nutritional solution administered through an IV to sustain her while the medical team worked on her diagnosis.
Determined to get to the root of the problem, Dr. Winter, her colleague Children’s clinical geneticist Dr. Berkley Powell, and the medical team ordered a series of diagnostic procedures for Lacey, beginning with a chromosome test. Children’s pediatric gastroenterologist Dr. Syed Hamid did a gastroenterology (GI) workup including a liver biopsy, which showed signs that her small bowel was not absorbing fat. A peripheral blood smear revealed approximately 30 percent of her red blood cells showed acanthocytosis – irregular shaped red blood cells seen in disorders with fat malabsorption. Vitamin A, D, E and K are fats as well and testing of these vitamin levels confirmed that deficiencies were present. A stool analysis showed abnormal levels of fat.
The tests helped in determining Lacey’s diagnosis. Drs. Winter and Powell independently pieced together the clues: Lacey’s irregular shaped red blood cells, vitamin E deficiency and inability to absorb and metabolize fat reflected a rare recessive genetic disorder. It’s the kind of condition most physicians rarely see in their career, and only read about in medical textbooks or journals. But not the pediatric experts at Children’s Hospital, they are among the most experienced pediatric specialists in the country.
“When Dr. Reitman told me he thought Drs. Winter and Powell found the answer I was excited, I was so happy, someone’s listening to me, someone’s found something,” said Roche.
Lacey’s diagnosis, Abetalipoproteinemia (ABL), a rare congenital metabolic disorder that affects less than 1 in 100,000. It’s a condition in which the body has difficulty absorbing fat during digestion. In Lacey’s case, she was not absorbing long-chain fats, including vitamin E and the other fat soluble vitamins A, D and K. A lack of these essential vitamins and fat resulted in her severe clinical state. Without treatment with vitamin E, ABL will result in neurological complications later in life and lead to death. Other potential vitamin deficiencies could also cause blindness, rickets and severe clotting problems.
“It was the first case of this I had seen in my career,” said Dr. Winter. “It was the earliest presentation anyone had seen.”
Meanwhile, Children’s clinical geneticist Dr. Joseph Shen and clinical dietitian Ann-Marie Roberts, RD, CSP, collaborated to create a specialized formula tailored to Lacey’s needs. After a couple days, Lacey began putting on weight.
The team also worked closely with Children’s Medical Director of Pediatric Surgery and Trauma Dr. Michael Allshouse, who surgically inserted a G-tube in Lacey, enabling pumping of formula and vitamins during the night, ensuring the toddler received the necessary nutrients to catch up with her growth. Children’s pediatric surgeons have a level of experience unmatched in the region, performing 3,300 of the Hospital’s 11,000 surgeries annually, using minimally invasive surgical and blood-loss techniques whenever medically indicated. “It was a good feeling to see her start gaining weight and provide relief for her mother,” said Dr. Reitman.
Following her stay at Children’s, Lacey started physical therapy once a week at the Hospital’s Rehabilitation Center to improve her development. Children’s Rehabilitation Center is the only independent pediatric facility in California accredited by the Commission on Accreditation of Rehabilitation Facilities (CARF). “Lacey was so malnourished, she wasn’t meeting developmental milestones,” said Roberts.
Within a few months, Lacey made up for lost time. “She has really blossomed,” said Dr. Winter of Lacey, who at 19 months, loves to play outside on the family’s farm in Modesto. She doesn’t use her G-tube as much anymore and has caught up developmentally very quickly.
Lacey isn’t out of the woods just yet. The real battle is to see if she can gain weight when she’s taken off formula completely. Lacey will be on a low-fat diet – including fresh fruits and vegetables and no processed foods – and seen at Children’s Genetic Medicine and Metabolic Clinic into adulthood.
Life is much better now for Lacey and her family thanks to Children’s super sleuth medical team who cracked her case. “If she hadn’t been admitted to Children’s, she would have died,” said Roche. “I love the Hospital, everyone there was great.”
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