Tucson Region

New disease threatens kids

As they dug into the heaping plates of pasta smothered in melted cheese and spicy tomato sauce, the small boy watched, his dark eyes wide and wondering. He reached out, put his finger gently on the food, then in his mouth. He wanted to eat. But 3-year-old Anthony Bianchi has not eaten any food for four months. No one knows if he will ever again be able to take food through his mouth. The boy is the Tucson face and an extreme case of what many doctors believe is a new disease striking rising numbers of children - one that leaves them vomiting, in severe pain, unable to tolerate food, often unable to grow. By one estimate, some 22,000 American children may be affected. They fail to thrive - and many doctors don't know why. Some don't even know this disease exists, much less how to treat it. "In Tucson, I had the very best and kindest doctors, and still no one could tell me what was wrong with Anthony," said Denise Bianchi, 35. "It was just not on the doctors' radar screen. We were blindsided by this, and we had nowhere to go for help. Our child was so miserably sick and we were desperate." Though it took nearly two years to figure out, what Anthony Bianchi has is a disease called eosinophilic gastroenteritis, or EG. It is an especially severe form of what is known as the eosinophilic disorders - inflammation of the digestive tract caused by huge numbers of allergy-related white blood cells, known as eosinophils. Tucson "hot spot" for disease?

Linked to severe allergies to multiple foods, EG may be triggered or worsened by airborne allergies, experts say. That is why Tucson - with its epidemic rates of pollen allergies - may be becoming a "hot spot" for the disease, which some doctors insist did not exist before the 1990s and remained unrecognized until the last five years. "In certain areas of the country where there is cross-sensitivity with aero-allergens - as in Tucson - the numbers may be higher. That's my gut feeling," said Dr. Fayez Ghishan, a pediatric gastroenterologist who heads the Steele Children's Research Center at the University of Arizona. One of the first physicians in Tucson to recognize and confirm eosinophilic disease - including Anthony's case - Ghishan has seen five to seven new cases a week in recent years - at least 250 a year. In Anthony's case, the eosinophils are attacking his entire digestive tract. In the more common, less severe, but still disabling cases, eosinophils strike only the lower end of the esophagus, causing eosinophilic esophagitis, or "EE." Only one U.S. city, Cincinnati, has tracked eosinophil esophagitis rates. Doctors there estimate it affects one in 10,000 children. If that rate holds nationally, some 22,000 U.S. children are battling the disease each year. That would mean EE outranks some better-known childhood digestive ailments, such as Crohn's disease and ulcerative colitis, according to a study published last year in the New England Journal of Medicine. The debate is stirring nationally over why this disease is appearing now, and why it is on the rise. No one yet knows, though some are linking it to the skyrocketing rates of childhood asthma. "Very quickly, Sam went from a normal 5-year-old - playing, active, happy - to chronic stomach pain, vomiting, pale, winded and weak," said Michelle Racioppo, whose 7-year-old son has EE. "Every week I had to take him home from school, he was so sick. "He was tested over and over, but everything came back normal. None of the drugs they tried worked for him - they only caused him more pain." Symptoms similar to reflux

What confounds and confuses so many doctors is that the symptoms of EE and EG - nausea, vomiting, stomach pain, choking, cramping, diarrhea, weight loss - almost exactly mimic a much more well-known problem - acid reflux disease, or chronic heartburn. Fairly common in children and adults, reflux occurs when stomach acid backs up to the esophagus, causing burning and irritation. That's what Anthony's and Sam's doctors thought the children had. They treated them for it, with zero success. "We could not figure out why he was failing, why he wasn't growing, and why nothing we did could help him," said Dr. Eve Shapiro, a Tucson pediatrician, with nearly 30 years' experience. Finally, she referred the boy to Ghishan, who immediately suspected an eosinophilic disorder after preliminary tests suggested Anthony was hypersensitive to nearly a dozen foods. "I had never seen a patient with this before," Shapiro said, noting that one Tucson allergist "pooh-poohed" the whole idea, and another specialist still insisted the child had acid reflux. Though Anthony finally was getting back on the right track, his mother, Denise - who by now had taken a two-month leave of absence from her job to research her son's illness - knew he needed more help than Tucson could offer. "He needs a team of doctors on this - a gastrointestinal specialist, an allergist, a nutritionist, and they all need to be in the same room, working together with him," she said. "That is not happening in Tucson, not yet." Nor is Tucson performing the highly specialized skin-patch testing needed to pinpoint what foods are poisoning the children. Although milk, eggs, nuts, beef, wheat, shellfish, corn and soy are the most common culprits, each child reacts uniquely, with varying sensitivities and degrees of illness. Help in Cincinnati, Philadelphia

At this point, only two U.S. medical centers offer the specialized testing and team treatment, and have significant experience with the eosinophilic disorders: Cincinnati Children's Hospital and The Children's Hospital of Philadelphia. In the past year, Denise Bianchi has flown Anthony to Cincinnati, and Michelle Racioppo has taken Sam to Philadelphia. "My husband and I just said we're going," said Racioppo, a mother of two. "We had to. This is our son's life." However, the family's insurance denied coverage for out-of-state treatment. It was not until that decision was overturned in a rare move by the Arizona Department of Insurance that they could afford to go. A letter of support from their Tucson allergist helped swing the case. "I just told them that, in Tucson, we can't do anything with this right now," Dr. Uwe Manthei said. "I feel I have to be an advocate for these patients, to get them where they need to be." Left undiagnosed and untreated, EE eventually will scar and thicken the esophagus, making it painful and difficult to swallow. "The food pipe stiffens and narrows, the way the little airways constrict when you have asthma," Ghishan said. Even the test needed to confirm an eosinophilic diagnosis - a lab count of eosinophils in tissue biopsies taken during an endoscopy of the upper gastrointestinal tract - is rarely done in most cities. In Cincinnati and Philadelphia, doctors found very high levels of eosinophils in Anthony and Sam. Their food poisons were identified and special diets designed. Elimination of the allergenic foods is the key to treatment for EE and EG, along with steroids and asthma drugs. For Anthony, with his entire gut inflamed, that meant an extreme elimination diet - no food at all for at least eight months. He is nourished only by a pure amino acid liquid formula via a tube in his stomach. If further tests show his eosinophils dropping, he will begin to eat again - but only one food at a time, to see what, if any, he can tolerate. "Food is his enemy," said his mother, Denise. She and her husband have three other children. "But it's so hard. He wants food. It's heartbreaking when we sit down to dinner and he sees all of us eating - he wants to be part of that. So he climbs in my lap and tries to feed me." She's had to put locks on their kitchen cabinets, because Anthony will sneak in and steal food - and get sick every time. Things are not quite as tough for Sam, with his less severe EE. He can eat some things, but no gluten, potatoes, apples, pears, peas or lamb. No broccoli, no pizza, no chocolate, no sugars, no processed foods. The bottom line is, it's working. Both children are at full weight and growing again. Their stomach pains are gone. They don't throw up everything. They are active, full of energy. They have strength. Their mothers think of their boys as "pioneers" whose stories will help those sure to follow. "We are in a whole different world than we were a year ago," Michelle Racioppo said. "And I know there are parents in this town this minute, seeing these things happen to their children, who are desperate for answers."