Education and awareness are the keys to improving the diagnosis and treatment of primary immunodeficiencies — and access to both.
For most people, the occasional infection is a perfectly normal experience. But for some, it’s a different story: They’re dealing with “mystery illnesses” that keep coming back despite being treated, or they’re dealing with the same infections over and over again. Many of these people are among the half million in the United States alone dealing with a primary immunodeficiency (PI).
“Primary immunodeficiencies are conditions that are caused by hereditary or genetic defects,” explained Nicole T. Rochester, M.D., health equity medical advisor for the Immune Deficiency Foundation. “It’s really a blanket term that is used to describe over 450 rare chronic disorders that have in common the fact that the body’s immune system is unable to effectively fight infection. They can affect anyone.”
Many people don’t know they have one of these rare disorders, because diagnosing a primary immunodeficiancy can be challenging. It’s estimated that 70% to 90% of people with a PI have not yet been diagnosed, and it takes an average of 9 to 15 years to land on a diagnosis. Diagnosing a primary immunodeficiency requires detecting a pattern — recurring infections that keep coming back; persistent infections that won’t go away; infections caused by unusual organisms that don’t bother other people; extreme, unusually severe infections; or family members sharing similar symptoms.
Rochester notes that putting these clues together has gotten harder in recent years, however. “With many individuals, particularly for acute illnesses, it’s much more convenient to go to a minute clinic or an urgent care center, as opposed to back in the day when people saw their friendly primary care doctor for everything,” she says. “So your records are scattered.”
However, that scattered healthcare experience is often the result of care inequities. “Patients who are from lower socioeconomic groups and/or belong to racial and ethnic minority groups — Black patients, Hispanic or Latino patients, American Indian, Alaskan Native patients — those groups historically have lower access to healthcare and lower access to quality healthcare,” explains Dr. Rochester. “They are more likely to receive care in this disjointed fashion for a variety of reasons.”
Those reasons include being unable to take time off from work, transportation barriers, and the need to prioritize more immediate needs like housing costs or groceries for their families. And people who get health coverage through Medicaid often struggle to find healthcare providers who will accept it. There may also be challenges with health literacy — people with PIs often do not realize that their experience is not normal, and this lack of literacy is often exacerbated by language barriers.
There’s also ingrained bias among healthcare providers. Many healthcare professionals have been taught that primary immunodeficiencies are primarily seen in white patients, because statistically, the majority of patients diagnosed with a PI are white — in part because of the socioeconomic barriers just described. “If someone from a racial or ethnic minority group presents with classic PI symptoms, it’s very likely that they are not going to be diagnosed, initially,” Dr. Rochester explains.
Dr. Rochester advises you to speak with your primary care doctor or to access a nearby clinic if you think you might have a PI and stresses that education is the key. “I would encourage anyone who has concerns to visit the Immune Deficiency Foundation’s website. There’s a lot of information there, much of it offered in multiple languages. The foundation exists to serve patients and families — and that includes those who have concerns about possible immunodeficiency.”
The ultimate goal is to improve people’s lives. “Their mission is to improve the diagnosis, the treatment, and the quality of life for those that are impacted by primary immunodeficiency,” Dr. Rochester noted.