- CASE FILE
In April of 2017, I started feeling general malaise with a fever. Two years and 11 doctors later I still have a fever, joint & chest pain
ABOUT THIS CASE FILE
In April of 2017 I started feeling a general malaise, with swollen lymph nodes and a low grade fever. My daughter had just been diagnosed with strep throat, and I had had a similar presentation a few years earlier, so it was assumed that was what it was. I took a course of Amoxicillin without any relief. Three weeks into my illness, I thought that I must have mono. I was an ER nurse for twelve years, and had just made the switch to same day surgery (thank God for the lovely schedule). The Urgent Care doctor did not do a mono spot, he just diagnosed me with pharyngitis, even though I did not have a sore throat.
I continued on with a fever of 99 to 101 every day, diarrhea, headaches, huge fatigue, chest tightness, and intermittent lymph node swelling for 4 more months and then I saw my PCP. He ran a mono spot and it was negative. I was then referred to infectious disease. I had a huge work up, with nothing coming up. They said that I had mono and it would eventually go away. It did not.
We did have an abdominal CT done, and it showed the nodules in the base of my lungs. I had a bronchoscopy done, even though they knew they could not reach the nodules, and woke up with my lungs in intense pain. The doctor said I had lots of inflammation and the next day when I went to work, I could not speak without being short of breath. I had to leave early and then ended up in the ER. After solumedrol, I felt much better. I was started on prednisone, and have never come off of it since. Unfortunately, three months into my prednisone, I started having vision changes. I went to my eye doctor, and I had increased eye pressure from my prednisone. Shortly after my bronchoscopy I also started experiencing joint pain and swelling. I could not focus, I did not feel safe driving in the evenings. I was experiencing muscle weakness, and had swelling of my extremities.
It was determined that I had low Vitamin D and iron. I had two infusions of iron and I felt more energetic for five days, but then went back to my normal fatigue, having to crawl up my stairs at night because I could not walk, and of course, the ever present fever. I was referred to a rheumatologist and pulmonologist at OHSU. My anti-ccp was positive, so after a lung CT showing nodules throughout the bases of my lungs, it was determined that they were rheumatoid nodules. No one was convinced that all of these symptoms were caused by my rheumatoid arthritis.
My new pulmonologist ran a battery of genetic tests. He discovered that I had a mutation of my nlrc4 gene as well as a new heart murmur. The mutation I have, has not been seen before, but other mutations of this gene cause inflammatory syndromes and periodic fevers. This seemed to fit. Since this discovery last fall, we have been trying to find something that works for both issues. My fevers have never gone away. Every thing has intensified. I am no longer working as a nurse. I still have a farm and young children, but I can hardly get through a day. The first medication we tried, I had an anaphylactic reaction to. The next one was fully ineffective. I am waiting to try another one, but it has a huge co-pay. Who knows if it is going to work. Prior to me becoming ill, I did insanity work outs and squats while I brushed my teeth or folded the laundry. I was an avid equestrian. I am now selling my horses and have to sit on the side of the bathtub while I brush my teeth because I don't have the strength to keep standing. Some days my hands are so bad I can't even open my door to get out of my house. I just want some semblance of my life back! I want to work as a nurse and help others. I want to play with my children and be able to ride and hike with them. I want to walk out to my barn without feeling like I might cry from pain and frustration. I look beautiful on the outside, but on the inside I am falling apart. I am ready for a cure.