Lisa's Diagnosis Story - Making My Own Way Out

Lisa Shares Her Journey to a Primary Immunodeficiency Diagnosis

Since I know everyone has a different journey with CVID, I thought it might be helpful to share a bit of mine, so you can understand a little more about where I’m coming from…

I grew up in a rural area outside a small town, the third of four children to hard-working, blue collar parents. I had big dreams of opportunities where it didn’t matter who my parents were or that they grew up on the wrong side of the tracks. I dreamed of making my own way out. That was the singular focus of my goals. Get out of town, do something great.

In 8th grade, I contracted my first pneumonia. My family doctor decided to keep me outpatient by giving me IM antibiotic injections. I recovered fully, or so I thought, but in the last x-ray I had for that pneumonia, my doctor noticed a shadow on part of my lung that he suggested needed follow-up. He retired. That follow-up was lost.

Fast forward to my freshman year of college. I had this lingering crud that I attributed to dorm life, as everyone around me was sick. I found myself in and out of the doctor’s office most of that year. Just before the school year ended, I got a round of antibiotics to try and clear things up. I felt significantly better and went off to my summer internship, as scheduled.

That internship was at a remote camp in Kentucky. The first week was great. I loved working with the kids and being in community with the counselors. Then, I started feeling fatigued. During week 2, I started feeling much worse and took advantage of my half day off. At dinner time, my colleagues became concerned that I didn’t show up. I was still in my bunk with a very high fever. They got the camp nurse, a seasoned critical care nurse in her “day job.” She knew I had to go to the hospital immediately, as my fever had reached a crisis point and I was showing signs of labored breathing.

We took the 45 minute car trip to the nearest community hospital. Nurse Jeannie insisted on staying with me and insisted that the ER doctor do an x-ray. That x-ray revealed a significant infection in the right, upper lobe of my lung. I was admitted. That’s when the nightmare began. Fortunately, Nurse Jeannie stayed with me that first night. I would have died without her there. She iced me down and tried to keep my fever in check because the nurses were spread so thin, they weren’t prepared to care for me. My parents were called and they rushed to Kentucky to find that the healthy daughter they’d dropped off was now critically ill.

The pulmonology rotation was only every Tuesday and Thursday, if my memory of the details is correct. He missed me on Tuesday, so didn’t see me until I’d been in the hospital a couple of days. Things are pretty fuzzy, but he was very concerned with my condition and actually had recommended I be transferred to the University of Kentucky for further evaluation/more aggressive treatment. The hospitalist in charge of my care blocked the transfer over that weekend and resisted until the infection spread over all lobes of both lungs. The next week, I was transferred into the ICU at the University of Kentucky. I narrowly missed intubation during a bronchoscopy and lung biopsy. I was given morphine and my parents were told that they were doing all they could to get me better - but they couldn’t figure out what pathogen was making me so sick.

Eventually, I began to recover and worked very hard to get myself out of the hospital without oxygen. I started to see a pulmonologist closer to home and he did several procedures - bronchoscopy, thoracentesis, needle biopsy of the lung - in part because he noticed a part of my right upper lobe was not resolving. If you guessed that it was the same spot my family doctor noticed when I was in 8th grade, you get a gold star. The needle biopsy revealed it was an abscess. The doctor was flummoxed and didn’t know what else to do for me. He had been treating me for a year and I was still getting pneumonia whenever I wasn’t on antibiotics. He then presented my case at grand rounds, which is a gathering of doctors across specialties. A physician there suggested my doctor check my immunoglobulin levels.

Bingo! We had the beginnings of our answer. My immunoglobulins were nearly absent. The pulmonologist had never had a patient like me before, so he didn’t recognize the signs. I am very fortunate that it only took a year of recurring illness for him to dig deeper. I’ve rarely found a medical professional so willing to keep looking for answers. He referred me to my first immunologist and I received my first dose of IVIG almost a year to the day after my release from the University of Kentucky.

It’s been almost 14 years since my diagnosis. No part of this journey has been easy, but I’m so grateful to have had so many caring professionals set along my path to help guide and teach me. It’s been a long road, but I now can impersonate a healthy person on most days and that means the world to me.