In the rare disease world, getting a correct diagnosis can be akin to playing the lottery.
Symptoms often mimic other conditions, and many healthcare professionals have never seen a patient with whatever the rare disease is.
Wendy Bickel of Geneva, Illinois, was one of those patients. Long plagued with sinus infections, her doctor treated her with one antibiotic after the other–still, nothing helped.
Bickle finally consulted an immunologist, and while being diagnosed with primary immunodeficiency isn’t something to celebrate, she finally had an answer as to why she was constantly sick.
And even better, she now has a treatment protocol that is actually helping her. According to the Immune Deficiency Foundation (IDF), there are more than 300 primary immune deficiency disorders, and they can affect almost anyone.
What they have in common however, is they are rooted in a genetic deficiency that affects the immune system. The end result is people with PIs are more prone to infections, and in many cases, the infections are incredibly hard to treat.
In Bickel’s case, she infuses with Immunoglobulin G twice a week, and takes great precautions to avoid being exposed to germs.
The IDF recommends parents have their newborns screened for PIDs, which makes sense. Even if there is no history of immunodeficiencies, genes can mutate during the gestation period.
And, it makes sense for another reason: The sooner a problem is caught, the earlier treatment can begin. And the earlier treatment begins, the more health problems can be avoided down the road.
