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 newborn was about a week old, she began vomiting frequently. She started breaking out in horrible 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 (IV) 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.
“She acted like she was on fire, that’s how severe the pain was,” said Roche. “It was an everyday battle for her.”
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 completely 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 in February 2009, 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 multi-disciplinary 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) work-up 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 vitamins and fat resulted in her severe clinical state. These fats are essential to maintaining growth and health. Without treatment with vitamin E, ABL will result in neurological complications later in life and lead to death. Vitamin A deficiency can cause blindness; vitamin D deficiency will cause rickets, a softening and weakening of the bones; and vitamin K deficiency can lead to severe clotting problems.
“It was the first case of this I had ever 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, worked together to create a specialized formula, tailored to Lacey’s needs. They explored several infant formulas and oils, calculating the essential fatty acids, to give Lacey adequate amounts of long-chain fats and vitamins to correct the deficiencies and prevent their recurrence. The duo created a formula consisting of Monogen (a special infant formula lower in fat than standard formulas), walnut oil and flax seed oil, along with vitamin supplementation.
“The standard formula Lacey was originally consuming was not appropriate for her body,” said Roberts. “It contained too much fat that she was unable to absorb, resulting in the loss of half her daily calorie needs.”
The new formula contained low levels of long-chain fats and provided fats that her intestines could use and restore fat calories for growth and development. The formula was also supplemented with fat soluble vitamins A, D, E and K, keeping her blood levels at a normal range and replenishing her losses. Dr. Shen and Roberts fine-tuned Lacey’s diet by monitoring the amount of fecal fat in her stool to get the right ratio. After a couple of 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 got 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. “You don’t really know what an impact you make on a family until you’ve made an impact. I was doing what I enjoy to do, it’s very humbling.”
Following her stay at Children’s, Lacey started physical therapy once a week at the Hospital’s Rehabilitation Center to help her reach her developmental milestones. 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. “She wasn’t doing what a normal baby would do.”
Within a few months, Lacey made up for all of the lost time thanks to the team of specialists that diagnosed her and corrected her diet and nutritional needs.
“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, walking at 13 months. Lacey sees Dr. Winter and Roberts every three to four months at the Hospital’s Genetic Medicine and Metabolism Clinic.
“Ann-Marie was a lifesaver, too,” said Lacey’s mother of Roberts, who taught her how to read labels on the back of food products to determine the amount of fat in foods, as Lacey began eating some solid food. “There were times when I would call her and ask if it was OK for her to eat this or that.”
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 when she’s about 2 years old. Less than 30 percent of her total calories can come from fat. Lacey will need to consume enough volume of protein and carbohydrates to maintain her caloric input and avoid weight loss. Since fat has 9 calories per gram, versus 4 calories per gram for carbohydrates or protein, she will need to consume a greater amount of food than the normal 2-year-old.
“It’s basically a waiting game right now,” said Roche. “They’re hoping that when she gets older, she’ll be able to tell them what she can and cannot eat.”
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.
“If she hadn’t been admitted to Children’s, she would have died,” said Roche. “She was so weak and frail. I love the Hospital, everyone there was so great.”
Life is much better now for Lacey and her family thanks to Children’s super sleuth medical team, who drew upon their pediatric expertise in cracking the case on Lacey’s mysterious condition.
Story sponsored by: Wawona Frozen Foods, Inc.