The immune disorder present in most individuals with MECP2 Duplication Syndrome is a major challenge to health. The exact nature of the disorder is not well understood, although there has been considerable progress in understanding the nature of the disorder that has resulted in improved prevention and treatment of respiratory infections.
Three approaches to the use of antibiotics have been taken. Each one may suitable for some individuals depending on the degree of vulnerability to infection.
The first approach is to swab secretions, culture them, and treat with an appropriate antibiotic only if a treatable bacterial infection is present. This method would be normal practice with individuals who do not have this syndrome, other immunocompromise, or other respiratory challenges that require more aggressive treatment. This may also be suitable for some individuals with MECP2 Duplication, but for others there can be two problems with this approach. First, respiratory infections may progress quickly and the delay waiting for culture results may lead to much more serious or even life-threatening illness. Second, in many cases bacterial infections appear to be secondary to viral infections. As a result, the first cultures are negative for bacteria, but the individual gets sicker and several days later bacterial infections are present.
The second approach is to use prophylactic antibiotics on a regular basis to prevent infections. This approach is used with some patients with other conditions such as post-transplant immunosuppression or cystic fibrosis. It has been used with some patients with MECP2 Duplication Syndrome and there appears to be some benefit to those with extreme vulnerability to infection.
The third approach takes a middle path. Antibiotics are not prescribed all the time, but they are prescribed whenever a respiratory infection begins regardless of X-ray or lab culture. Swabs are still taken for culture, and depending on the results, the patient may be switched to an antibiotic better suited to the specific bacteria cultured.
Each approach has advantages and disadvantages, and each works well for some individuals. Families can discuss the benefits of each of these approaches with their child’s physician.