Primary immunodeficiency (PI) refers to a group of conditions where the immune system is unable to effectively protect the body from infections, and putting a person at risk for other diseases, like certain cancers.
PI is caused by genetic mutations. These mutations can be inherited, passed on through the genetics of a person's biological parents. Most cases are sporadic, meaning a genetic change occurs on its own, occurring due to genetic mutations that are not fully understood. There are many different types of PI—over 450. New types are still being discovered.
In most cases, treatment for PI will focus on managing the condition. Immunoglobulin infusions are a mainstay of treatment, as are medications to address infections and the risk of infections (such as antiviral, antibiotic, and antifungal medications).
The challenges of living with a rare condition
While it's not known how many people have PI, these conditions are considered rare. Living with any ongoing health condition makes life more difficult, but rare conditions often come with additional challenges:
Patient education
Patient education—learning about a condition and how it is managed—is an important aspect of treatment. With rare conditions, there is generally less information available, and information can sometimes be technical and contain unfamiliar medical terms.
Healthcare
Healthcare can be another challenge. Treating PI should involve specialized healthcare providers who are experienced in diagnosing and treating these conditions. Treatment requires regular appointments for infusions of immunoglobulin, as well as additional medications. People with any chronic health condition—common or rare—will also have higher healthcare spending.
Social challenges and family
Rare conditions also come with social challenges. It can be difficult to explain an uncommon condition that has a complex genetic cause that is not fully understood. It can take a lot of emotional energy talking about this to family members, friends, and colleagues.
Because of the genetic origins of PI, family can be another area of stress—there is the concern of what your diagnosis means for the health of your family members, and if anyone else in your family may be at risk.
Strategies for seeking support when living with PI
For all the reasons named above (and likely many others), having a good support system can make a difference in your life if you've been diagnosed with PI. Here are some ideas on where to get started building your support system:
How is PI impacting your life?
Make a habit of writing things down—questions you have about your diagnosis, questions you want to ask your healthcare team, concerns about your health, notes on any research that you do. Also, write down how you are feeling—do you feel upset, under a lot of stress, are there difficult thoughts weighing on your mind, what is your mood like during the average hour of the average day?
Write these things down. Find a system that is easy to stay consistent with. The goal here is to identify the ways that the diagnosis is affecting your life and the type of support you need.
Who is in your support network?
- Your healthcare providers. Your healthcare providers need to know about your questions, concerns, and how you are doing day-to-day. All of these factors can impact your treatment. Be honest—for example, if a treatment isn't working because of the dosing schedule or cost, bring this up.
- Your friends and family. You may need help from friends and family at times. It's also really helpful to have people to talk to, whether it's about something you learned about PI, something that is frustrating you, or those times you need a distraction from life's stressors.
- Organizations for people with PI. Organizations like the Immune Deficiency Foundation or the Primary Immunodeficiency Treatment Consortium provide support for people affected by primary immunodeficiency. Consider contacting one.
Taking care of yourself
Daily habits such as hygiene, taking care of teeth, and reducing exposure to infection causing germs are important to managing PI. Taking care of the basics—good nutrition, staying active, good sleep habits, reducing stress—are important to your health. These are additional topics that should be discussed with your healthcare providers.
Also, make sure to make time for the things you enjoy.
Sources: Immune Deficiency Foundation. What is PI... + 15
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