For 11 of Lacey Conners's 12 years of life, she's had to visit a hospital every three weeks for an antibody replacement therapy to treat her primary immunodeficiency (PI). On top of being diagnosed with Crohn's disease and heart disease, Lacey's immune system is unable to adequately produce the specific antibodies needed to fight off infection. With the establishment of the Jeffrey Modell Diagnostic Center for Primary Immunodeficiencies, the Emory Children's Center joins children like Lacey on the front line of the fight against PI disorder.
The new Jeffrey Modell Diagnostic Center for Primary Immunodeficiencies at the Emory Children's Center was made possible by a donation from the Jeffrey Modell Foundation (JMF). The center is the only of its kind in Georgia dedicated to the diagnosis and treatment of patients with PI. Emory was designated as a location for one of 23 Jeffrey Modell Diagnostic Centers worldwide because of its excellence in patient care and research into the complex disorders of PI. To date, physicians at Emory have diagnosed and treated over 250 children living with the disorder.
PI includes more than 120 genetic defects that cause a reduced or absent ability for the immune system to produce specific antibodies to fight off infection. It is often misdiagnosed as common chronic childhood illnesses such as sinus and ear infections, pneumonia, fever, and bronchitis. PI illnesses can range from chronic sinusitis to "bubble boy disease," the common term used to describe sever combined immune deficiency.
"Without proper diagnosis and treatment, most of these disorders are fatal in childhood," says Lisa Kobrynski, MD, MPH, assistant professor of pediatrics, Emory University School of Medicine and the new director of the Jeffrey Modell Diagnostic Center. "Early recognition and diagnosis of PI can save lives and improve the health outcomes for these patients."
Although Lacey is able to receive her antibody replacement therapy (IVIG) in Columbus, Georgia, where she currently lives with her parents Brian and Alicia, and her sister, Falyn, she still must travel to Atlanta every three months to see Dr. Kobrynski. In the last two years, Lacey has missed 38 days of school.
The IVIG treatments Lacey receives every three weeks at The Medical Center in Columbus help prevent recurring infections and long-term damage, improving her quality of life. It works by replacing the antibodies that the body isn't able to make on its own. The treatment is administered intravenously through a port in Lacey's chest. She received her first port at the age of nine months and recently replaced it one year ago. In addition, antibiotic treatments for infections are also needed.
"When Lacey was first born everything was guesswork," says her mother, Alicia. The Connors family was living in Orlando, Florida at the time. "She turned blue four hours after she was born and we found out she had heart disease. She was in the hospital six weeks before we started seeing specialists. We were basically guinea pigs. She was finally diagnosed with PI at seven months old."
The educational and diagnostic programs available through the center will increase the awareness of the disorders among physicians and parents, Dr. Kobrynski says. It will also serve as a model for the evaluation of patients with suspected PI.
"Experts have estimated that as many as 500,000 cases of PI remain undiagnosed in the United States," said Fred Modell, co-founder of JMF, whose son, Jeffrey, died from P.I. when he was 15-years-old. "Our goal is to give every child a chance to lead a healthy, normal life. We're thrilled to form this partnership with Emory."