World PI Week is a global campaign which aims to raise awareness and improve diagnosis and treatment of primary immunodeficiencies (PI). To celebrate, you can check out the website to see our Luka The Lion highlighted as a patient story, and so many other important patient stories. On the website, you can also learn PI facts, sign the awareness petition, browse events or download resources.
Our Undiagnosed PI Story
Although Luka's rare disease doesn't have it's own name (yet), his undiagnosed disease is under an umbrella of 250+ conditions called "primary immunodeficiency diseases," or PI, which means that part(s) of the immune system is missing and/or does not function properly. Some patients have low B cells and need monthly infusions of immunoglobulins to fight common infections. But, in Luka's case, and for patients born with Severe Combined Immunodeficiency Disease (SCID), these are the most extreme examples of a PI disease. Without the hope of a bone marrow transplant or experimental gene therapy, kids born with SCID or rare SCID-like diseases usually have a life span of one year. Click here to read more about SCID, sometimes known as the "bubble boy" disease in honor of David Vetter.
PI diseases aren't always straightforward and are often difficult to diagnose. According to World PI Week, 70-90% of patients who have a PI are undiagnosed, meaning either (1) their symptoms do not fit into a classic diagnosis, (2) doctors are not able to identify a diagnosis, and/or (3) the patient/family isn't aware of the condition yet. Unfortunately, when you are undiagnosed it's easy to fall through gaps in the healthcare system and feel alienated not only from society, but even the medical community. Kids and families who face these rare, undiagnosed PI diseases are in even more need for someone -- a doctor, nurse, social worker, therapist, volunteer -- to hold their hands, ask questions, and listen so that they never feel alone.
From our friends at the Immune Deficiency Foundation (IDF), the PI community often identifies with zebras. This is based on an old saying. In medical school, many doctors learn the saying, "when you hear hoof beats, think horses, not zebras" and are taught to focus on the likeliest possibilities when making a diagnosis, not the unusual ones. However, sometimes physicians need to look for a zebra. Patients with PI are the zebras of the medical world. So IDF says #THINKZEBRA!