Primary immunodeficiency, or PI, is a genetic defect that can compromise a child's immune system, leading to an increased susceptibility to certain infectious illnesses. There are more than 100 types of PI; each has somewhat different symptoms, depending on which parts of the immune system are affected. Some deficiencies are deadly, while others are mild.
In children with PI, usual childhood illnesses occur frequently and can drag on and become chronic despite the use of antibiotics. If a child suffers from eight or more ear infections or two or more serious sinus infections within a year, he or she could have a serious form of PI. Other warning signs are failure to gain weight or grow normally and a proven family history of PI.
While there are more than
1 million children and young adults in the United States 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.
Parents should know that a simple and inexpensive blood test could 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, a cure.
The Jeffrey Modell Foundation, a nonprofit research foundation devoted to the study of PI, is making a profound difference in many lives by raising awareness of the disease.
Since beginning a national public awareness and physician education campaign last year, 32 Jeffrey Modell Diagnostic and Referral Centers throughout the United States have reported promising figures. They calculated increases of 85 percent in the number of patients diagnosed; 31 percent in the number of patient referrals; and 67 percent in the number of patients receiving treatment.
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