Health experts now understand that some illnesses, which previously could not be explained, are actually the result of genetic defects in the immune system, known as primary immunodeficiency, or PI. It's an umbrella term for more than 140 genetic defects characterized by illnesses that are persistent, debilitating and chronic.
In children with PI, typical childhood illnesses occur frequently and can become chronic despite the use of antibiotics. Children who suffer from eight or more ear infections or two or more serious sinus infections within a year could have a serious form of PI. Other warning signs are failure to gain weight or grow normally and a family history of PI.
While more than 1 million children and young adults in the United States are affected by PI, experts estimate that 70 percent to 90 percent of those with the disease go undiagnosed. Without diagnosis and treatment, constant infections can significantly weaken your child's immune system.
A simple and inexpensive blood test can identify the disorder in more than 95 percent of cases. Once diagnosed, there are several treatment options that can provide a better quality of life or, in some cases, even a cure.
The nonprofit Jeffrey Modell Foundation is devoted to research, physician education, patient support and public awareness of the disease. A national public awareness campaign was launched in the past year. Since that initiative began, reports from 118 Jeffrey Modell Diagnostic and Referral Centers worldwide have shown increases of 79 percent in the number of patients diagnosed; 57 percent in the number of patient referrals; and 58 percent in the number of patients receiving treatment.
