Kartangener Syndrome

Several people have asked us lately to explain what A.J.’s “special need” is, so I thought I would post the answer here.

The reports that we have received about A.J. do not specifically say that he has Kartagener Syndrome, but they do report that he has situs inversus and that he has a history of very frequent respiratory infections. Because testing for this type of very rare disorder is not available in his country, an “official” diagnosis has never been made, but based on his medical history we are fairly sure this is what he suffers from.

The combination of situs inversus, chronic sinusitis and bronchiectasis was first described in 1904. Manes Kartagener described the syndrome in detail in 1933, and it bears his name. KS is estimated to occur in 1 in 32,000 births. Kartagener Syndrome is a combination of two different problems – situs inversus (reversal of the organs, for example the heart is on the right side of the body rather than the left) and primary ciliary dyskinesia (dyskinesia = abnormal movement).

Cilia are small, hair like projections that occur in the lungs, respiratory tract, reproductive system and in the ventricles of the brain. These cilia continually move to “sweep” bacteria, viruses, and foreign debris such as dust and smoke out of the respiratory tract. When they do not function properly it causes frequent problems such as pneumonia, ear infections, and sinus infections. Because cilia also have important functions in the reproductive system and brain people with KS may also be infertile and suffer from frequent headaches.

Kartagener syndrome is recognized by the three main symptoms of chronic sinusitis or other respiratory infections, bronchiectasis (lung damage from frequent infections), and situs inversus. Treatment focuses on prevention of respiratory infections and can include inhaled medications, tubes in the ears and long term oral antibiotics. Typically the frequency of infections starts to diminish in the 20’s and people with KS lead normal adult lives. In the worst case scenario, they may suffer from permanent hearing loss due to untreated ear infections and in extreme cases may require lung transplant due to severe bronchiectasis.

A.J. also had bleeding in his brain at birth and has lived his entire life in an orphanage, so we anticipate that he may also have some developmental delays because of these factors. But with a loving family, good health care, and educational support we have every reason to believe that he will grow up to be a “normal” young man. But even if he is never “normal” according to society’s definition he is loved and cherished by God and by our family. We cannot wait to get him home!