April, among other things, is Primary Immunodeficiency (PI) Awareness Month.
Although often represented by the blue ribbon, the PIDD community is also one of the “zebra” disorders. Doctors usually learn in their first year of medical school that when they hear hoof beats, they should think horses, not zebras. Zebra disorder is a slang reference to disorders that are uncommon or rare, but share symptoms with a more common disease. With so few doctors thinking about Primary Immunodeficiency disorders, patients often go undiagnosed for years. Even after diagnosis, treatment and medical continuity can be difficult with even fewer specialists, emergency room doctors, and general physicians knowing anything about or how to treat primary immunodeficiencies.
The World Health Organization recognizes around 185 primary immune deficiency diseases (by primary I mean the person was born with an absent or improperly functioning immune system). While these disorders vary in their symptoms and severity, the one consistency is that with a weakened or absent immune system, the body is susceptible to infection. Without the immune system as back up, the patient requires longer courses of stronger antibiotics to fight frequent infections with many infections requiring IV antibiotics. Symptoms may be obvious from birth or they may show up later in an individual’s adult life. Frequency and intensity, as well as type of infection, varies from individual to individual.
Often times you will hear PI patients referring to their immunoglobulin levels. Immunoglobulins are where our body’s antibodies (defense system) are located and lower numbers mean increased susceptibility to infection. The major immunoglobulins are IgG, IgA, IgM, and IgD, and each class protects a different part of the body. IgE is another major class of immunoglobulins you may have come across in the media, but this one works a bit differently in that higher levels of IgE tend to indicate allergies or asthma. Things could get a lot more complicated here, but I’ll get to the point fairly quickly. It isn’t possible to just replace or transplant immunoglobulins in a one-time process.
This leads us to treatment options. Depending on their deficiency (or deficiencies), a patient could be prescribed Immunoglobulin replacement therapy, which is available as a month (or bi-monthly) IV infusion that is run at a rate that depends on the individual’s tolerance to the product and its side effects, or a week subcutaneous infusion that injects the replacement product under the skin as opposed to directly in a vein. Side effects, premedications, infusion rates/times, preference and response to treatment vary widely from patient to patient. The replacement therapy is typically done for life though. Replacement therapy isn’t always an option; for example IgA cannot be replaced but yet the patient is at an increased likelihood of infections so these patients may be treated with daily antibiotics to lessen the severity of the infections that they do encounter. Then there are medications for the individual body parts affected by all of the wear and tear from infections, constant medications, and so on.
In upcoming posts, I will share with you my children’s personal stories with PI and offer tips on how you can support those living with PI.
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