How to Scare a Patient to Death: CGD Edition

“Fatal granulomatous disease of childhood.”

How’s that for a stunner?

In a November 2012 overview article published in the medical journal Hematology/Oncology Clinics of North America (which can be found—with free access—here), the author Stephen M. Holland, M.D., points out that that’s what chronic granulomatous disease (CGD) was initially called.

I hate the word “fatal”—and I can’t even imagine it being connected to my son (the disease was originally thought to affect only males, but it’s since been shown to also affect females, though less frequently). Maybe I’m delusional, but I prefer to believe there’s always hope. On the other hand, LIFE is fatal. We’re all gonna go, sometime…

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It’s a lot to think about. Source:

Thankfully, we’ve come a long way from 1959 medicine, baby! Today, CGD is treatable and manageable.

So what is CGD?

According to the article, “CGD is a paradigm for non-lymphoid primary immune defects, and has guided elucidation of oxygen metabolism in the phagocyte, the vasculature, and the brain.”


Let’s see if we can break it down into understandable chunks:

  • A paradigm” means it serves as a model for, or example of, other similar diseases
  • “[H]as guided elucidation of oxygen metabolism…” essentially means learning more about CGD has helped scientists learn more about how oxygen is used in:
    • Cells, called phagocytes, that protect the body by eating harmful foreign particles, bacteria, and dead or dying cells. One of the ways phagocytes do this is by making hydrogen peroxide, bleach, and other chemicals that are necessary to kill certain bacteria and molds. In CGD, because the phagocytes don’t do this, people with the disease are highly susceptible to infection caused by those particular bacteria and fungi, but not to other types of infections. It’s weird…and it makes CGD hard to diagnose!
    • Blood vessels (that’s what “vasculature” refers to)
    • The brain
  • CGD is an example of abnormal functioning in the part of our immune system that kind of runs on autopilot (called the innate immune system); when functioning properly, it kicks in automatically to quickly and reliably respond to infections

Now, if you’ve clicked on the link to the article, you know it is obviously intended to be read by people specifically trained in medicine and the sciences. But if you have a taste for that kind of intense, in-depth explanation, go for it! If nothing else, it’s good to know how doctors learn about the disease your child, partner, friend, neighbor—or you—have.

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Thankfully, there are plenty of other sources that everyday non-medical/science geeks can use to understand CGD, such as The American Academy of Allergy Asthma and Immunology and, because CGD is a genetic disease, the United States’ National Institute of Health’ Genetics Home Reference website.

From my perspective, the most important thing to know is this: CGD doesn’t have to be the fatal diagnosis it once was. With proper diagnosis and treatment—and careful, cooperative management—people with CGD are living longer and healthier than ever.



EmpatheticBadass is a young-at-heart writer from Ohio (Go, Bobcats & The Marching 110!)) who is passionate about being a voice for the patient perspective.

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