In his first year of life, Zachariah Summers has spent his share of time in emergency rooms, because of a rare food-allergy disease that is becoming more wellknown among doctors.
His mother, Carrie Summers, believes her family is fortunate Zachariah’s diagnosis of food protein-induced enterocolitis syndrome - while not fast or trauma-free - came much earlier than most they’ve heard of since.
But the mystery of theculprit food that taints her breast milk remains.
“We’ve had trial - and error,” said Summers, 35, while watching her sons play in the living room of her Madison County farmhouse Tuesday.
Her youngest, happy and sweet-tempered Zachariah, who just turned 1, bounds cheerfully about the room as Mary Poppins plays on the television. One wouldn’t guess he’s been sick so much of his young life.
The syndrome’s symptoms are severe, including throwing up profusely, lethargy, bouts of diarrhea, blood or mucous in the stools, and anemia.
The syndrome, known by its acronym FPIES, recently took a step toward becoming a disease recognized by the Centers for Disease Control and Prevention, according to the syndrome’s advocacy group.
The International Association for Food Protein Enterocolitis announced Monday that it had persuaded the centers’ National Center for Health Statistics to give thesyndrome an international diagnostic code, which doctors and scientists need to know if the disease is rare or simply goes largely undiagnosed.
The code, to be implemented in 2015, will allow the disease to be tracked separately from other food-allergy diseases, said Fallon Schultz, founder and chairman of the 2-year-old international association.
“This code is huge,” she said of the international classification system that indexes disease-specific codes for needs such as statistical tracking, billing, insurance and medical records.
If a disease doesn’t “exist,” Schultz said, research dollars won’t flow and insurance companies won’t reimburse families for expensive prescription formulas, which run $40-$50 a can.
Summers said her family “barely qualified” for the federal Women, Infants and Children nutrition program to pay for formula as she bustled around her kitchen, keeping an eye on Zachariah and 2-year-old Jedidiah.
Zachariah’s doctors put him on an “elemental” formula for a while, but eventually he had allergic reactions to that, too, and was returned to breast-feeding.
She is a flight attendant who hopes to return to work after taking a year or so off, and her husband is a computer systems analyst at the University of Arkansas at Fayetteville.
THE DIAGNOSIS
Food protein-induced enterocolitis syndrome doesn’t announce itself like many other food allergies.
More common allergies present with symptoms such as immediate swelling, hives or anaphylactic shock. Trigger foods tend to be milk, soy, eggs, peanuts, wheat, seafood, shellfish and tree nuts.
But with this syndrome, any food could be the trigger.
While milk and soy are its most common culprits, even so-called hypoallergenic foods like rice and oats also commonly cause a reaction in patients, according to the international association, based in Howell, N.J.
Standard food allergies’ skin tests and blood testsdon’t detect the syndrome - only gradual experiments as the parents introduce, or withdraw, new foods to the child or to the breast-feeding mother. Symptoms appear often within hours after ingestion of a trigger food.
Schultz said the disease can prove dangerous for small bodies.
“These symptoms cause these kids not to thrive and to go into hypovolemic shock,” she said.
“Failure to thrive” is a medical term indicating the children can’t get the nutrition needed for proper growth, Schultz said. Hypovolemic shock is fluid and blood loss severe enough to render the heart unable to pump enough blood and can cause organ failure.
“Oftentimes, these babies look septic, toxic, lethargic,” said Dr. Amy Scurlock, a pediatric allergist and immunologist who estimates she’s treated about 20 patients with the syndrome in her 10 years at Arkansas Children’s Hospital in Little Rock. She estimates Children’s doctors do about 10 “food challenges” a year, where they introduce new foods to children who’ve been diagnosed to see if a reaction occurs.
In some children, the syndrome resolves on its own by age 3, but older children and even adults can have it.
LIVING WITH THE SYNDROME
The symptoms and the disease’s low profile make it easy for doctors to confuse it with common illnesses.
“Often, these babies get diagnosed with a [gastrointestinal] bug,” Scurlock said. “Sometimes it takes several rounds of illness before everybody puts the story together.”
Schultz is mother to a 4-year-old son, Landon, who has the disease.
“The most frustrating thing was the first two years of not having a diagnosis,” she said Wednesday. “Going from doctor to doctor looking for answers on why my son was so sick.”
Doctors told Schultz and her husband that Landon had a virus, but the parents recognized the illness was too acute to be a virus, which would have lingered and then tapered off.Landon got suddenly and severely ill only after trying a new food.
“In our hearts, we knew something was really wrong,” Schultz said.
Today, Landon Schultz can eat only nine foods: turkey, potatoes, green peas, strawberries, blueberries, bananas, watermelon, avocados and peppers. There is a list of 34 foods he can’t eat, Schultz said.
The Summers family doesn’t yet have a list of problem foods, Carrie Summers said Tuesday.
Zachariah’s first taste of solid food came only the night before, when he ate quinoa, so far without incident.
Summers had already stripped her diet of dairy, soy, nuts, wheat, seafood and other top allergens because Jedidiah has three of the more common food allergies.
Scurlock said, “We definitely see that there’s often an allergic family history with these cases,” meaning the patient’s relatives have some kind of food allergy.
A ‘STOMACH BUG’
The Summers family’s journey began when Zachariah first showed symptoms at 3 weeks old. The nurse answering her pediatrician’s on-call line suggested he probably had a “stomach bug,” Summers said.
When he was a little more than 7 weeks old, and he had symptoms that included labored breathing, Summers took him to the emergency room at Washington Regional Medical Center in Fayetteville. A doctor told Carrie Summers and her husband, Darrell, Zachariah had pneumonia,she recalled.
Zachariah was sent to Arkansas Children’s Hospital for treatment and further tests. Six days after the ER visit, Children’s Hospital doctors told the Summerses their son had food allergies in addition to the pneumonia.
Two weeks later, Carrie Summers took Zachariah for a checkup with a Little Rock pediatric gastroenterologist who travels to the Centers for Children in Lowell.
The doctor looked at the chart and saw that the team in Little Rock had diagnosed Zachariah with food protein-induced enterocolitis syndrome two weeks earlier. He mentioned symptoms he had that were common to that disease.
“I didn’t even know enough about FPIES to ask the doctor questions,” Summers said.
RAISING AWARENESS
Dr. Anna Nowak-Wegrzyn is a pediatric allergist and immunologist and an associate professor with the Mount Sinai School of Medicine in New York. Asa clinical researcher at its Jaffe Food Allergy Institute, she is one of the top experts in the world on food protein-induced enterocolitis syndrome.
It is possible the syndrome may prove to be not so rare, she said.
The syndrome’s prevalence may be underestimated because of a lack of reliable diagnostic tests and the absence of typical allergy symptoms, she said. Delayed, severe gastrointestinal symptoms “may mimic infections or surgical emergencies,” she said.
Two common triggers are rice and oats, which are considered to be unlikely allergens, “thus flying under the radar,” Nowak-Wegrzyn said.
“Last but not least [is the] lack of the diagnostic code that could be used by medical providers,” she said.
Schultz said Nowak-Wegrzyn and other global experts who sit on the association’s medical advisory board have written the bulk of the 30 to 40 articles that exist on the syndrome. Other diseases generate thousands upon thousands of papers, she said.
Doctors have plugged the syndrome’s data into diagnostic codes reserved for the allergy disease that sounded closest and not always consistently, Schultz said. That leaves the association estimating thus far the cases are in the hundreds.
The CDC’s decision to move forward with a diagnostic code in 2015 will give scientists a better picture.
“A diagnostic code can be used as a surrogate marker for epidemiological studies to estimate prevalence and incidence, and to determine how physicians treat FPIES,” Nowak-Wegrzyn said.
That decision, she said, “is truly a milestone for the FPIES community.”
Northwest Arkansas, Pages 15 on 06/09/2013