Primary Immunodeficiency: The Concealed Condition


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Primary Immunodeficiency is the absent function of the immune system.

Esther Kalisz, Journalist

Not all diseases are easily seen. Sometimes the happiest people are the ones who have been through the most and need the most help, either mentally or physically. People living with a hidden disease, such as Primary Immunodeficiency (also known as PI) are one example of this.

In medical school, most doctors are taught the saying, “When you hear hoofbeats, think horses, not zebras,” encouraging them to focus on the most probable diagnosis. But, although this is generally effective, it isn’t always right. There are “zebras” out there that are suffering, in need of treatment; people with PI are some of them.

PI is a genetic condition, meaning people are born with it. Because of this, they get sicker than the average child. Since most doctors are taught to look for “horses” and not “zebras,” these people often suffer for years (or even decades) before receiving treatment.

I have a good friend with one of the many rare variations of PI (medically referred to as Hypogammaglobulonemia), who I recently had the privilege to interview. He showed me what it has been like for him to grow up different from other kids his age; mentally, socially, and physically.

From birth to eleven years old, he was constantly sick, not being diagnosed with PI until the preteen years. Before he began treatments, he was continuously left out of social interactions, either for fear of catching a disease, or simply being too sick to join in the first place. He and his family visited numerous doctors, trying to figure out what was wrong. He says, “Waiting rooms, receptionists, getting blood drawn, and listening to adults talk about me just became a part of my life. I’m not sure if I’m lucky that I’m not scared of needles, or if whatever fear I had got beaten out of me.”

After that, I asked about how his treatments worked, once he got them. These consist of a Blood Plasma Infusion, meaning donated blood is injected into his system (which is “infused” rather than “transfused,” since it is mixed with, rather than replacing, the blood he already has). However, it doesn’t matter what blood type this plasma is; instead, part of the immune system that can be found in blood (in the form of “gammas”) can be separated from the rest of the blood, forming the plasma. These blood products are put into glass containers and shipped to people who need them.

Once they receive the plasma, patients perform an infusion routine once a week (or month, depending on the treatment plan). This routine consists of attaching a product called HY (which is different than the plasma itself) to a pump that injects a product into the tissue around the stomach area, forming a pocket where the actual blood plasma (medically known as Hyqvia or Hyzentra) is put. The reason for the pocket is so that sufficient doses of the infusion don’t cause scar tissue to build up; instead, the body can absorb at its own pace. These two steps collectively can take hours, depending on the size of the dose.

Even with this amazing treatment allowing people with PI to live normally, their lives aren’t completely fixed. With the infusion, they are still at risk of more frequent and serious infections than the average person. My friend explains, “From day to day, I have to be conscientious of what I touch in public places. If I go somewhere with someone who doesn’t know I have this condition, they will figure out very fast that I am a germaphobe just by watching me, since I open doors with my elbow or my shirt, and constantly wash my hands or use hand sanitizer.”

He continues to explain, “I’ve gotten over being scared of what people will think of me, and how they look at me when I do something germaphobic because I realize that I would rather get made fun of as a germaphobe than spend a week in a hospital bed. I always have something sassy to say to my friends when they complain about getting sick!”

I must admit, I am one of these friends. Whenever I catch a nasty cold or flu, I make sure to thank God for my functional immune system that keeps me from the emergency room that PI patients are so familiar with. After having a friend who lives this way, my attitude toward discomfort has completely changed. I feel guilty ever complaining about sickness since I don’t have to worry about being rushed to a hospital, or even dying.

Everyone can help lookout for people with PI and it doesn’t have to be complicated. Simply sending a text or package when you have a cold instead of exposing them to your germs is easy and considerate. We can also help them immensely by raising awareness for this concealed condition, letting doctors know that patients should be checked for this serious disease. If we spread the word enough, medical schools may stop telling their students to look for “horses” and not “zebras.” Because zebras exist and deserve just as much care and attention as any patient.

Lastly, donate blood plasma! I realize this isn’t possible for everyone, but there is a serious shortage of donors in this country and many patients, like my friend, are missing infusions because of it. Every time an infusion is missed, they are much more likely to catch a damaging illness. So please, if you’re over the age of 18, check for a local blood center and donate some much-needed plasma. In fact, a number of centers even pay you for donating.

So even if you feel like there’s nothing you can do, that isn’t true. The easiest (and possibly most effective) thing that helps make these zebra’s lives better is being there for them. It’s important to realize that people with genetic diseases are people like us, who need love and care, just as we do.