I met Ashanthi as I was standing in line for a book signing at the RARE Summit. When I asked her why she was attending the summit, she replied that she had been diagnosed with primary immunodeficiency (PI), also known as “Bubble Boy Disease”. PI gets this name because patients with PI have weak immune systems and have difficulty fighting off infections. As a result they must insulate themselves from the outside world – living in a bubble – or risk illness.
Ashanthi’s healthy appearance and radiant smile did not suggest somebody with a terrible disease such as PI. However, I learned that she has been in and out of the hospital throughout her life (4 times that month) and, at the age of 30, had battled potential lung failure, fibromyalgia, and cancer. However, she has lived a full life, accomplished amazing things, and traveled around the world. Moreover, she is now embracing her story and sharing it as an advocate for patients who are suffering in silence as she had through most of her life. Follow her work on her blog, Life With PI.
PI affects 1 in 1,200 people in the United States. However, it is thought that there are over 500,000 cases of undiagnosed PI. Worldwide the problem is even worse. Part of the reason for this underdiagnosis is that there tends to be a focus on treating the symptoms that result from a weakened immune system (ie infections, respiratory problems) rather than treating the immune system itself. However, it is critical that we diagnose PI early in life in order to prevent illnesses from permanently crippling those affected.
Ashanthi has met patients who were diagnosed as children, and others who have had to wait until 70 years of age to receive a diagnosis. Imagine living a life filled with hospital visits, constantly falling ill, and being referred to every type of doctor for that long before you can reach an answer. Yet, these are the journeys some people have taken.
Doctors are often told in medical school, “When you hear hoofbeats, think horses, not zebras,” meaning look for what is most common. The PI and rare disease community often promotes the concept of “think zebra,” encouraging doctors to also consider and look for diagnoses that might be uncommon when other methods or diagnoses aren’t working. Luckily with tools like newborn screening, certain PIs like Severe Combined Immunodeficiency can be diagnosed at birth, and babies can receive treatment within months, before they risk catching their first infection.
Since PI patients have nonfunctioning components of their immune system, they remain at a higher risk for infection. This, paired with the inability to fight illness off on their own, makes receiving immune-boosters like IVIG, absolutely necessary. All doctors, regardless of background, should be educated further on immune deficiencies, so when a patient presents their case, the doctor is able to refer him or her to an immunologist.
With WeHealth, we can work together to find these undiagnosed patients and educate doctors to begin “thinking zebra” more. Getting earlier diagnoses will help them to live happy, healthy lives. We are working with Ashanthi to organize an awareness campaign with WeHealth and will keep you posted when we launch.