My Patient Story
Congressional District: CT05
Issues and Challenges
Pat has encountered: Insurance, Invisible Illness, Rare / Underserved Disease
In 2010, a month after being diagnosed with severe degenerative spinal disease, I caught H1N1 influenza in March. I was very sick for a week and ended up with pneumonia (which was not an uncommon complication). My primary physician prescribed antibiotics based on a culture that revealed a staph infection. Within a week, I felt much better, my cough cleared, and I got on with life…for about six weeks. Then, I was sick again. Cultures showed a return of the staph lung infection; I went back on antibiotics and felt better…for about five weeks. By the third round, we decided it was time for me to check in with a pulmonary specialist I had known for years. (I started my professional career as a respiratory therapist before I went to nursing school.)
Much to our surprise, my lung function overall had deteriorated significantly. The specialist put me on pulmonary meds and continuous antibiotics. By the holidays, I was having trouble lying flat to do my back exercises, and I was short of breath climbing the stairs. After being sick through the winter and into spring, I finally gave in and had a CT Scan of my chest (nurses are the worst patients). It showed permanent damage — bronchiectasis.
Now I was scared. I was about a year into this, and things were not getting better. The pulmonologist said it was time to work up my immune system. I pointed out that I had been an ER nurse and people coughed in my face my whole career. How could I possibly have an immune deficiency and not know it? He did baseline bloodwork and gave me the pneumonia vaccine. I went back eight weeks later to see how I responded to the vaccine.
There were 21 different proteins my immune system should have recognized and made antibodies to fight. I recognized three. But all of the measurements of the components of my immune system were normal. I was totally confused. It turns out I have what’s called a functional immune deficiency. I have the elements, but instead of fighting bacteria, they pretty much sit around and watch.
I was way out of my comfort zone at this point. First, I didn’t know that immune deficiencies could appear in adulthood. (I have had one sinus infection in my entire life and never got sick from all the exposures I had in the ER.) Second, I had never heard of this concept of having normal laboratory values but a non-functioning immune system. I felt vulnerable (would I ever be healthy again?) and scared.
My lung specialist walked me down the hall to the allergy/immunology specialist. The two of them explained I would need to start infusions of immunoglobulins to replace mine that had stopped doing their job. I asked how long this process would be — thinking it was like IV antibiotics. I was stunned to learn that this was my new life — that I would need infusions for the rest of my life.
My first infusion was in October — 18 months from my first pneumonia. I later learned how lucky I was; on average, it takes between 7 and 9 years from the first infections to a diagnosis of primary immune deficiency.
In early spring, I developed an odd rash on my legs. When it didn’t go away, I had a biopsy and learned I had vasculitis. Now I needed a rheumatologist. However, because I had been receiving plasma infusions for nine months, the local rheumatologist could not evaluate the blood tests they usually use to diagnose autoimmune disease. Anything that the lab measured in a blood sample from my arm would reflect my donors’ factors, not my own.
By the following spring, my joint pain was so bad that I required high doses of Prednisone to get out of bed in the morning. So, I went to Boston to see the leading vasculitis specialist in the nation. He confirmed I did not have primary vasculitis. My vasculitis was secondary to an autoimmune disease. Since he, too, was unable to do traditional blood tests, I relied on his superb diagnostic skills. He took an exceptionally detailed history, and we determined I had Sjogren’s syndrome.
In the years since I had a seven-level lumbar spinal fusion and found myself pain-free for the first time in 20 years. I had surgery on Election Day and made Thanksgiving dinner (except for putting the turkey in the oven). The following spring, the day after my PT said I no longer needed my cane, I fell in my driveway and shattered my collarbone — 3 plates and eight screws fixed that.
Five years later, my life was settling down and almost boring. I worked late into the evening in my home office on November 1, got up from my desk, and found myself in a heap on the floor. When I pulled my foot out from under me, my years of experience as an ER nurse told me that a foot isn’t supposed to point off to the side the way mine was. (Of course, I’m kidding — the minute my husband walked in, he said, “Dislocated, huh?”)
That was Friday night. I saw the foot and ankle specialist who works on the athletes Tuesday, and she wanted to wait ten days to let the swelling go down before she rebuilt my ankle. I sailed through surgery but couldn’t bear weight on that leg for weeks. I finally started PT when the pandemic hit.
And, now it is mask roulette. Never a dull moment!
My Motivation and Inspiration
Without a doubt, my greatest motivation and inspiration is my husband, Bob. We were the grand marshals of Donald Duck’s 50th birthday parade at Disney World on our honeymoon. I promised him that we might not be rich, we may have challenges in our life together, but I would guarantee he would never be bored. And here we are 38 years later, and it’s true — our life has never been boring.
Five years ago, I became a volunteer with the Immune Deficiency Foundation. I lead the Get Connected Group for Connecticut. And Bob is my right hand. I couldn’t do it without him.
Everyone has challenges in their lives. I got primary immune deficiency and an autoimmune disease. I feel blessed that I can use my medical background as I support my group members. I can’t have a clinical practice any longer, but I can (and do) look out for my fellow zebras!
I took pride in my patient-centric approach to my patients throughout my career. But these diagnoses have humbled me greatly. I had no idea what it was like to get a letter in the mail, knowing it meant a fight with the insurance company. Or how it felt when the infusion company changed my infusion appointment at the last minute after I planned my week around it. Or wondering where I would find the money to pay for therapy that starts at about $8000/month. Once the pandemic is under control, I look forward to sharing my experiences with physicians and nurses who care for people living with chronic, rare diseases that require life-sustaining therapy.