Tami and Cliff Guthrie, Glen Allen parents of three, quickly noticed something unusual about their son Justin after his birth in 2002: He often vomited several times a day. "He was a healthy-looking child," Tami says. "He just threw up all the time." Doctors diagnosed Justin's condition as a milk allergy, but he continued to get sick, sometimes immediately after eating.
As a last resort, in March of 2004, Justin received an endoscopy. "It came back that he had eosinophilic esophagitis and was allergic to all food," Tami says. "We weren't quite sure what to do. It was scary."
Eosinophilic esophagitis (EE or EoE) is a rare disease that often gets confused with gastroesophageal reflux disease. "It is a form of allergic disease of the esophagus," says Dr. Anne-Marie Irani, chair of pediatric allergy and immunology at VCU Medical Center. "The children typically present with GI symptoms, vomiting and [abdominal pain]."
EE, Irani says, was not recognized for a very long time because of its rarity, but over the past decade the VCU medical staff has begun diagnosing a growing number of patients. In the past five years specifically, they have seen close to 200 cases, Irani adds. "It's a mini-epidemic," she says, adding that doctors are actively researching what causes EE.
Dr. Ted Williams, a pediatric gastroenterologist at VCU Medical Center, biopsied a piece of Justin's esophagus after the endoscopy, looking for eosinophils, cells that are often present in the throat during allergic reactions such as asthma. "In the healthy, normal esophagus, you have no eosinophils," Irani says. "With reflux you can get maybe five or 10 in one high-power field of the microscope." Justin's results included more than 100 eosinophils per high-power field, a clear indicator of EE.
For about a year, the only food Justin consumed was Neocate Junior, an elemental formula in which the proteins are already broken down — so he can easily digest them without eliciting an allergic response.
The Guthries tried introducing foods one at a time during this stage, but their son had adverse reactions to everything. "We were excited for each new food, and then we had to take it away," Tami says. During the next two years, Justin alternated between formula-only and a normal diet while trying a variety of medications, including a steroid he inhaled through a nebulizer, as well as steroids he swallowed each evening.
"Some people have called that disease asthma of the esophagus," Irani says. "Asthma is treated with steroids; there is now an attempt to treat EE with the same concept, where you would put the topical form of a corticosteroid into the esophagus. We have reports that this type of therapy will work."
While there is currently no FDA-approved treatment for EE because it is so rare, Irani says, VCU Medical Center is participating in two pediatric, multicenter clinical trials testing the use of different forms of therapies, including intravenous infusions and oral medications. Last spring, Justin enrolled in a clinical study testing the efficacy of Reslizumab, an antibody that interferes with eosinophils' migration into the esophagus tissue.
In December, Justin was switched to Pulmicort, a corticosteroid medication that kills eosinophils by directly medicating the affected area, coating his esophagus after he swallows it. (This is not an FDA-approved use, but it's prescribed safely by pediatricians.) "It has been a tremendous improvement," Tami says. Justin is now able to eat normally and has been sick only twice in the past few months versus several times daily before Pulmicort. Tami still gives Justin formula about twice a day to maintain his taste for it, in case he needs to go off food again.
Tami is optimistic about the future for her energetic son. "My hope is that they find the absolute cure [for EE]," she says. "They have come a long way since he got it."