In the current issue of the Journal of Clinical Immunology, researchers estimate, based on a random telephone survey, that another group of immune disorders called primary immune deficiency diseases may afflict as many as one in 1,200. In these diseases, caused by an inborn genetic defect, the body can't mount an effective immune response to infection.My immunologist says that her typical primary immune deficiency patient is a mother in her early thirties. She says that immune function decreases with age in everyone and people don't notice anything is wrong until their immune response drops below a critical threshold. People are born with high or low immune function and most people with the gene defect hit the critical point in their early thirties.
"We know from surveys there's a really unacceptable time from onset of symptoms to diagnosis of primary immune deficiency, as high as nine years," says pediatric immunologist Jordan Orange of the University of Pennsylvania and Children's Hospital of Philadelphia.
When the first child goes to school or daycare the mother becomes continuously ill. In our society, we accept that mothers will be ill for the first year that their child enters school or daycare. Fathers are also more ill during this period, but less so because they get more sleep than mothers. Also, mothers tend to be primary caretakers of sick children and thus, more susceptible to picking up diseases from their children. Because of human variability, medical practitioners are not alarmed until after the mother has been ill for two years continuously.
The problem is further compounded by the fact that the sufferers don't look ill. Most signs of illness are actually signs of immune response. Take away the immune response and the world sees a whiny malingerer. (I fired one internist after she told me to go home, she had actual sick people she needs to attend to in her waiting room.)
Immune system disorders often cluster in families and within an individual, says Virginia Ladd, president of the American Autoimmune Related Diseases Association. "Once you have one, you have others. Some patients say if you live long enough, you can collect them."We live in a crazy society when, at my sickest, people kept telling me how great I looked. I was so thin! What kind of diet was I on?
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