5 Questions and Answers That Show What Living With Primary Immune Deficiency Is Really Like

This year for Primary Immunodeficiency Awareness Month, instead of just sharing my own story, I asked five patients five questions about their experience and thoughts on primary immune deficiency (PI) and related issues.  Here are their responses in their own words.

1. For those who are unfamiliar, what is it like to live with PI?

“Living with PI is a constant balancing and juggling act. How much can I do without over doing it? What places can I go where I am least likely to get ill? Do I take the chance of going to ‘XYZ’ knowing that someone there is fighting a cold (something that could kill me)? How much pain, fear, and always feeling blah, do I hide from those around me? At what point do I stop? How much am I willing to go through? How much do I let this disease control my plans and my actions?” — Tara T.

“That depends on where you are in your healthcare journey. Life can be very challenging before an accurate diagnosis and appropriate interventions. Some patients continue to struggle with symptoms after they have found an immunologist or other healthcare provider who is expert in the treatment of immunodeficiency disorders. And some patients lead very normal lives after finding a treatment that works for them. I am relatively fortunate. I have a specific antibody deficiency. After starting a prophylactic regime of a low-dose antibiotic daily since 1999, I no longer get infections, and subsequently, asthma symptoms have subsided. I am not on IVIG or SubQ, and never have been.” — Linda K.

“Living with PI is a daily battle — planning out your medications for the day and always being wary of the people around you being sick. You never know when an infection can hit and change your plans for weeks or even months.” — Christina B.

“Well I think it’s like everything you do not know at first. What is difficult to explain to another is that it is a primary immunodeficiency, because some people usually associate it with a secondary immunodeficiency.

Obtaining medication that has a high cost is a challenge; it can be difficult to get if you do not have good medical insurance. Since I had a late diagnosis, I must also take care of other problems,  like bronchiectasis and deafness. I require higher protective measures to protect my lungs and take daily Amoxicillin to avoid concentrating bacterial activity and preventing pneumonia. I also do recreational activities such as going to the movies, going out with friends, and even going on a trip to a very cold place to hike a mountain — something unthinkable for me 30 years ago.” — Sebastian D.

“My life has changed since diagnosis, sometimes for the better as I have a course of treatment, but it was a long road to get there. It feels like the cure can be worse than the disease. I was sick a lot as a child and even into adulthood. I often missed school and work because of respiratory or other infections.” — Rick N.

2)How long did it take you to get diagnosed? What conditions led to your diagnosis?

“I was diagnosed in late 2010 through early 2011. I had had a severe allergic reaction, serum sickness, to a sulfa drug and never got better. The serum sickness had knocked out what remaining functioning immune system I had. It took Mayo clinic a year to figure it out. I had frequent illnesses as a child and had a doctor tell me in my 20’s that he thought I had an immune system disorder, but we never followed through.” — Tara T.

“If the internet didn’t exist, I’m not sure I would be here today. I mean that quite literally. I don’t think I would have found the Immune Deficiency Foundation (IDF) and I’m not sure what my state of health would be without this powerful information tool. Eight years ago, after being ill for years and losing hope that I would find answers, I had the good fortune to meet a man who changed my life. I was back at the revolving door of my urgent care clinic and telling the physician assistant my medical history. At that time, my symptoms were getting worse. I didn’t just have sinus infections anymore. I had eye and ear infections and asthma. I was plagued with mysterious appearing, disappearing and reappearing scalp outbreaks and lower gastrointestinal discomfort.

My childhood had been a series of bouts of infections and the symptoms were coming back in my mid-life. I was ready to seek an herbal remedy, some magical cure, anything. I was just plain weary of medical doctors and their gazes of perplexity. Bottom line, I was frustrated and angry. After listening to me, this physician assistant said: “There might be something wrong with your immune system.” That day, I came home with a prescription for another round of high-dose antibiotics and the words “immune system” running through my head.

I went straight for my computer, and my searches on the internet were fruitful. I found information about primary immune deficiency. I was ecstatic, yet skeptical. I had already seen a chain of specialists and nobody had ever mentioned anything like “primary immune deficiency.” However, this comment by the physician assistant inspired me. Along the way, I found the IDF and eventually found an immunologist in my home town. I now have a diagnosis and a long-term treatment plan. I feel great now, have been infection-free for years, and continue to learn by going online daily.

We really are at the cutting-edge of a technology revolution. As healthcare consumers, we have easy access to more information and we are being forced to re-examine our roles in the healthcare process. In no way am I saying that the internet should replace medical professionals, or that we should be disrespectful to highly trained and dedicated doctors and nurses. However, we are in a powerful position to help inspire collaborative relationships, with patients taking more responsibility for managing their chronic illnesses and healthcare professionals listening and learning from their patients.” — Linda K.

“It took me a little over a year to get diagnosed. I had multiple sinus infections, bouts of bronchitis, UTIs, ear infections, and tonsilitis. The biggest thing was that I would take antibiotics to make them go away, but then the same infection would come back.” — Christina B.

“My diagnosis took around five years. I began to get sick at 2 years old; from there it was like living an adventure. I had repeated relapses with recurrent infections in different hospitals. The first was a meningitis. Luckily I did not have any neurological sequelae. Bouts of pneumonias meant frequent hospitalizations, but doctors only cured the infection. None of them decided to study the subject in-depth.

When I was 5 years old, I had a relapse and my parents took me to Garrahan Pediatrics Hospital in Buenos Aires, Argentina. Finally, under the right circumstances, I met Dr. Matias Oleastro who saw the signs of this disease, including the absence of B-lymphocytes, and ordered the immediate administration of immunoglobulin therapy.” — Sebastian D.

“Two diagnoses were prolonged for five years until I found my doctor who finally looked for the cause of my chronic infections, which were mostly respiratory and intestinal infections.” — Rick N.

3)What are the biggest challenges you face? 

“I still get frequent infections and am unable to work. I have been hospitalized an average of over a month each year due to infections and comorbitities. I have struggled with depression, anxiety, and medical PTSD. Then there is the guilt of how this has impacted my family, my husband, my kids, and my friends. I know it has to be hard to watch. I also worry about not being here for them so I fight every day.” — Tara T.

“Initially, getting a diagnosis was a long, hard-fought journey, and getting back to an infection-free life was a slow process. But I made it! What helped greatly for me was finding an immunologist who was caring and knowledgeable, as well as connecting with the Immune Deficiency Foundation (IDF). Internet chatrooms that are friendly and safe for PI patients are a wonderful way to stay connected to a community of survivors. In short, I think our symptoms and the difficulty of living with a rare disease force us to sometimes move out of our comfort zone to advocate for ourselves and others. But that’s OK! We face challenges, but we can endure.” – Linda K.

“The biggest challenges I face are: 1. Trying to be like the healthy people of my age. It seems like my friends from high school are going out and doing things, but I’m stuck at home sometimes. 2. Finishing school. I had to withdraw from college because my infections kept me from being able to go to classes and labs. I was a biochemistry major so I couldn’t miss more than one lab per semester, but with PI you sometimes get sick for a long time and/or multiple times a semester. I was also told by my diagnosing immunologist to stay away from the medical field (even though I was pre-med and my dream was to become a doctor). It’s been really hard trying to find a new dream, because I’ve wanted to be a doctor my entire life. 3. Working with kids. I love children so much, but they can carry a lot of germs. I have to be really careful when I’m around them, but because of my current job, that’s all the time. 4. Insurance. The healthcare system in America is ridiculous. The costs are outrageous, especially for those with chronic health problems. It’s harder for us to work enough to get insurance through work in the first place, but then even once you get insurance, premiums and co-pays for specialty medications can be extremely expensive.” — Christina B.

“I would like more of society to understand PI, and realize that it is not something contagious. It has been difficult looking for a formal job because of this as well. This is something that happens all over the world — when a person has an illness that has no cure, you simply close the doors, sometimes because it will bring greater costs to the employer and to the insurance. I am continuing to improve my quality of life, avoid hospitalizations, and graduate soon as a lawyer.” — Sebastian D.

“Challenges I now face are loss of productivity and quality time with my wife and family.” — Rick N.

4) What is your opinion of the 21st Century Cures aAt? Are you or anyone else you know effected by it?
“A lot of me agrees that certain treatments should be fast-tracked, especially those that help those with life-threatening illnesses. The only thing I worry about is ‘big pharma’ abusing the act to push non-life-saving treatments that give false hope to patients and their families while they make big money.” — Tara T.

“There appear to be many complexities with health research in the public and private sectors, and I don’t claim to be an expert on the Act. I am confident the Immune Deficiency Foundation (IDF) is watching for outcomes of the Act, particularly for PI Patients. Having served as a volunteer for the IDF and traveling to Washington D.C. on several occasions to advocate for PI patients, I encourage all patients, who are willing and able, to become involved in the public policy debate, and to reach out to the IDF with questions, insights and suggestions.” — Linda K.

“I personally am totally for the 21st Century Cures Act. People with chronic illness especially need treatments and need them fast. By being able to push urgent medications through the approval process faster, people can get better treatments and enjoy a better quality of life. It also leads to ‘real-world evidence’ that the drug will work. Don’t get me wrong, clinical trials are great, but they don’t always give an accurate picture of a drug’s efficacy. Especially because drug companies often look for ‘ideal participants’ to test their drugs on (no other health problems, not on other medications, etc.). It’s important to remember the FDA can still regulate a drug once it has been approved. If it turns out to not be working/causing bad side effects once it’s released, it can always be changed or taken off the market.” – Christina B.

5) Do you feel you are getting the care and support you need to fight your disease?

“I get a lot of support from my husband, family, friends, and an amazing network of friends I have met online and at the Immune Deficiency Foundation (IDF) functions. I have also finally put together a great team of physicians, nurses, and members of the palliative care team. It has taken years for all of these people to be brought together.” — Tara T.

“Yes, I think I am getting quality care now for my PI diagnosis, and I have continued to stay connected with the PI patient community. My effort to tell my story and stay connected is a major factor in my sense of well-being. I encourage everyone to find a way to tell his or her story.” — Linda K.

“I get amazing support from the people I have; the thing is I’ve just lost a lot of people throughout this journey. From having to miss different events and family things due to illness, to people who are close to me not understanding PI and thinking it’s not real, I now have a limited support system. Chronic illness is incredibly difficult, which is probably why I’ve stumbled a lot the past few years since my diagnosis. I went into college my freshman year being in the marching band and doing so well that I was invited to the top five percent sophomore honor society at my school, Helvetia. During the middle of my sophomore year, my symptoms began and it turned my life around. No longer did I have my marching band friends, school friends, or even a lot of my family, because I was sick all the time. Even after my diagnosis, some of the people closest to me didn’t believe PI was real (partially because they had never heard of it) so not only were they not part of my support system, they made things worse.” — Christina B.

“Yes, because I receive my medication and the corresponding medical attention finally. I also form support networks through Facebook, mostly with moms of children who want to know how their child’s quality of life will be when they grow up. It is rewarding to guide someone newly diagnosed or who has suffered a loss.” — Sebastian D.

“Yes, the medical team I have now are the most incredible group of well-respected and knowledgeable professionals I could hope for. The support from my pharmacy team could be better, but it’s OK. The support from the pharmaceutical company has been wonderful as well. The support and information from the IDF has also been wonderful and eye-opening for me.” — Rick N.