Jamee Emens, the mother of triplets, remembers the sleepless nights all too well. For years, her son Jack battled a vicious cycle of respiratory issues while his sisters, Cameron and Peyton, faced other health issues. Jack was just 2 years old when he was diagnosed with reactive airway disorder, a condition that escalated into severe asthma. By the time he turned 5, Jack was trapped in a routine of dry coughs, difficulty breathing and emergency hospital visits.
“I’d sit with him in the bathroom, steam filling the room, just hoping his breathing would ease up,” Jamee said. “We’d use a nebulizer every few hours, but nothing seemed to work for long. Eventually, we’d rush him to the ER, where he’d spend days recovering on oxygen and steroids, only for the cycle to start all over again a week later.”
For eight long years, Jack endured the same painful pattern. Everything changed in 2013, when Jamee’s father met Fayez K. Ghishan, MD, the PANDA endowed director of the University of Arizona Steele Children’s Research Center and Alan and Janice Levin Family endowed professor and head of the Department of Pediatrics at the U of A College of Medicine – Tucson. A few days later, Jamee found herself sitting across from Ghishan, who would alter the course of her son’s life forever.
“He listened carefully, examined Jack and said, ‘I think he has eosinophilic esophagitis, but I’ll need to do an endoscopy to be sure,’” Jamee recalled.
The diagnosis of eosinophilic esophagitis, an allergic condition that occurs when the esophagus becomes inflamed and does not contract properly, was confirmed. With a few simple dietary changes prescribed by Ghishan, Jack’s unbreakable cycle of respiratory distress came to an end.
Jack’s story is far from unique. Autoimmune diseases affect millions of people worldwide, and their prevalence is increasing. To help families like the Emenses, the Steele Children’s Research Center and the U of A Health Sciences Center for Advanced Molecular and Immunological Therapies are leading novel research to advance the diagnosis, prevention and treatment of autoimmune diseases.
Understanding autoimmune diseases
In the United States alone, more than 40 million people suffer from over 100 different autoimmune diseases. These conditions occur when the body’s immune system mistakenly attacks healthy cells, leading to inflammation and damage in various organs and tissues.
“There are two types of inflammation: infectious, where you have bacteria or viruses causing an immune response, and sterile, where the immune system attacks the body’s own tissues for no apparent reason. This latter type is what we see in autoimmune diseases,” Ghishan said.
Autoimmune diseases vary widely in their effects. Rheumatoid arthritis causes joint pain; Crohn’s disease and ulcerative colitis impact the digestive system; Conditions such as asthma and atopic dermatitis affect the lungs and skin.
“Asthma, for example, is an autoimmune disease,” Ghishan said. “People don’t often think of it that way, but it’s the immune system that’s causing the inflammation in the airways.”
A key component in the development of autoimmune diseases is the interaction between genetics and environmental factors, also known as epigenetics.
“Epigenetics means environmental factors drive changes in the function of the gene rather than the structure of the gene,” Ghishan explained. “The genes are the genes. They are not changing. You have 23,000 genes in your body, and they are stable; however, their function can be changed by the environment.”
In 2022, the Steele Children’s Research Center became the first academic entity in Arizona to obtain a machine that allows for cost-effective, large-scale whole-genome sequencing. The Phoenix Women’s Board of the Steele Children’s Research Center, affectionately known as PANDA (People Acting Now Discover Answers), raised the funds to purchase the new sequencer.
That same year, a $10 million gift from the Steele Foundation was made to establish the Daniel Cracchiolo Institute for Pediatric Autoimmune Disease Research and provide financial support for graduate students, postdoctoral researchers and faculty members. Of the gift, $2 million was designated for the Center for Advanced Molecular and Immunological Therapies.
For the Emens family and others, these advancements in research and technology mean a future filled with hope that precision medicine will bring better, faster and personalized diagnoses and treatments for all autoimmune conditions.
“Knowing that other families might not have to endure what we did is comforting,” Jamee said.
