The Mystery Case and the Diagnosis

The following was written May 2010 in honor of Arthritis Awareness Month.

After 6 weeks of being ill with a “mystery case”, including a week long stay in the hospital, I was diagnosed with Systemic Onset Juvenile Rheumatoid Arthritis, an auto-immune disease that is characterized by high fevers that only appear in the afternoon, evanescent rash, and joint pain. The biggest risk from this chronic auto-immune disease is permanent joint damage and disability. Juvenile Rheumatoid Arthritis affects 300,000 kids in the U.S., of which 30,000 are cases of SOJRA. The following is a detailed account of our journey to this diagnosis in hopes of increasing awareness of juvenile arthritis so that we can find a cure, and to share our experience with this disease for people seeking information about it.

It all started with a 102.6 fever on the afternoon of Thursday, September 10. When my temperatures hit 104 the next day, the doctors ordered lab work done, but believed that it was a virus that would go away in a few days since I had no other obvious symptoms. However, I woke up Saturday night so feverish that my bed was soaked from head sweat. All I could do was moan softly, “Mommy. I – want – Mom – my” continuously. I was completely immobilized.

When I returned to my pediatrician on Monday, my fever was still over 102. She said I didn’t look like a septic child, and still believed it would be a virus that would go away. The lab results were not impressive. Could it be roseola? Let’s all wait and cross our fingers. So we went home hoping that the fever would break in the next day or so, and the telltale roseola red cheeks would appear. In the meantime, I was not moving, let alone walking, and needed to be carried around everywhere. Isabella commented that I was not moving my left leg at all… At the time Mom thought it was because I was feeling weak due to my high fever. I was eating little.

On Tuesday, 5 days after my fever first appeared, a red rash popped up on my face. Hallelujah!, thought my family, it is roseola, and I’ll be back to my normal self soon.

But I wasn’t. The rash went away as quickly as it appeared. By the next morning, the rash was gone, but my >102 fevers were still soaking the bed with my head sweat. The fever was barely being controlled by medicines. My dad had to put a towel under my head and change it out in the middle of the night because I was sweating so much. I was moaning from feeling awful, not moving, and wasn’t improving at all.

After a week of 102 fevers, the doctor sent us to the ER. My Mom pointed out that my left leg was stiff and I was not walking properly. My pediatrician said I needed to be checked in to the hospital so they can really spend time to get to the bottom of this. Mom tearfully took me to the ER… she has gone one too many times and really hates that place. ER wondered if I might have Kawasaki disease, which can potentially damage the heart if not treated quickly. But I only showed 2 out of 4 symptoms of the classic Kawasaki disease, so they debated whether I had Incomplete Kawasaki disease where you didn’t need to exhibit all symptoms. (???!!) Either way, the doctors had to decide ASAP because the disease required treatment within 10 days of the first onset of symptoms, and it was the 8th day. They decided to punt because they didn’t have enough experience diagnosing Kawasaki, so they brought in two great specialists from infectious diseases… Dr. Lee and Dr. Dubray. They seemed doubtful that it was Kawasaki Disease but they ordered an echocardiogram to evaluate my heart. It was clear. They thought the source of my problem was my non-moving leg, possibly a bone infection, and ordered x-rays. That’s when they broke the news to my Mom that I needed to stay in the hospital at least a week so they could have more time on me to figure this out. Boy, was my Mom bummed out! But the x-rays showed nothing, which the doctors brushed off as saying that x-rays are not very good at showing bone infection but it was a cheap test just in case it might. So they decided they needed to do an MRI of my leg instead, because it was much better at identifying joint and bone problems.

The MRI became a panacea to uncovering my illness, but there was a challenge. Unfortunately, I checked into the hospital on a Friday night. Now, the MRI is on all the time so that is not the problem. The issue was that the support staff was gone for the weekend. I had to be knocked out for the exam. (no doubt about this one…I am already screaming bloody murder when the doctor just walked into the room). So an anesthesiologist, recovery room nurse, etc. were all necessary, and they only came in on weekends for real emergencies. Did they need the MRI to help them decide whether it was Kawasaki Disease and therefore sufficiently urgent??

Dr. Lee ultimately concluded that I didn’t have Kawasaki, so no urgent weekend MRI was to be performed. In the meantime, they started giving me Cefazolin antibiotic to treat me in the most likely chance I had a bone infection. After we started it, my Mom thought that my movements started to improve because I actually bent my leg at one point and didn’t have a fever for the first time in 2 weeks. But that only lasted 24 hours; then the fevers and rash all came back. We’d have to wait for the MRI results, but Dr. Lee was not pleased at all by this. It still didn’t make sense to him.

Then came the nightmare leading up to the MRI. No food after 12 midnight because you need to be “NPO”, i.e. nothing consumed in the mouth for 8 hours, so you won’t barf when they give you the anesthesia. We were told “First thing Monday morning”. But once hospitals decide that you are not urgent, you drop off on the priority list. Then it became, “we’ll squeeze you in, after all the urgent cancer cases that were waiting around all weekend.” Then, “you need to get bumped to later because an urgent trauma case came in”. In other words, we have no idea what time your MRI would be, but you have to wait and not eat anything until we get to you! And so we waited and waited. Boy, was I cranky and super miserable and let everyone know it!!!!!!!!!!! My MRI was not until 3:45 in the afternoon!!! I hadn’t eaten anything since about 8pm the previous day!

The next afternoon (Tuesday), the MRI results finally came in. It showed nothing. There was a debate among doctors on how to interpret the findings, with some believing they saw a little fluid in the left leg, right shoulder, etc. but ultimately, they concluded that it was nothing. Infectious Disease was perplexed. Back to square one. I was officially a mystery case.

This was a difficult day for my parents. It was frustrating and scary not knowing what it was, because all of the more common illnesses were slowly being ruled out. More likely, it was rheumatological, which was a diagnosis of elimination and possibly a lifelong disease. But there was also now presented the possibility for the rare and scary stuff. Oncology started conducting tests, and the UCSF rheumatologists were contacted. (Note: no rheum at Children’s due to lack of funding! @#$%&

Oncology’s blood work showed clear, so it was not likely cancerous. Despite this, the UCSF rheumatologists insisted on a bone marrow aspirate to be 100% sure it wasn't leukemia. The reason being that a potential steroid treatment for my joint inflammation would mask any cancer that I might have. The bone marrow was a requirement before moving forward with rheumatology. At this point, my Mom who had been with me at the hospital every day and night for the last week, complained vehemently to the pediatrician about why I had to be put through all of this when it was more likely rheumatological not cancerous, more anesthesia, the lack of definitive scheduling for these procedures, thus the torture of me not eating all day, me not eating or drinking when I was already completely underweight, annoyance that another IV had to be put in because the last one went bad, etc. My pediatrician was a calming, firm voice that pressed upon how critical this procedure was: “This is his life.”

So once again, I was put on NPO Thursday night, but not sure exactly what time on Friday the procedure would be. While all this was going on, I had been put on round the clock Motrin and my fevers were finally coming under control, and I was slowly bending my leg again. The concession my Mom got from the doctor was at least we might be able to leave the hospital after the bone marrow aspirate, which would be “first thing in the morning”. But my Mom couldn’t take another torturous morning of waiting with me while on NPO, so had to have my Dad sit with me while she took a mental break. When noon came along and I still wasn’t called in, she furiously called the doctor that we were still waiting. I don’t know what my pediatrician did, but 5 minutes later, my Mom got a text from my Dad saying that I was being brought in for the aspirate. I think they called in some people from lunch; it all happened very quickly. The doctors called us while in the recovery room to tell us the results showed negative on leukemia. Whew, a big relief.

My team of doctors were now able to deem it probably juvenile rheumatoid arthritis, and discharged us from the hospital while making follow-ups with UCSF rheumatology. I was put on naproxen, a NSAID (commonly known as Aleve, an arthritic med) and a stomach liner (protect the stomach from having this medicine over the long term.) We also had a follow up appointment with a pediatric ophthalmologist. Certain JRA illnesses affect the eyes as well, and can cause blindness. I hadn’t walked in 2 weeks, but once we got home, I was so happy!! I started moving again, ever so slowly. First walking on my knees, 1 or 2 steps, a little at a time, then back to knees or Mommy holding me.

A week later I saw the UCSF rheumatologists - Drs. Milojevic and Lawson. They indicated that my joints were warm and stiff on the left knee, left and right hands, elbows. My Mom also noted that I hated opening my mouth wide to brush my teeth, and as a result, I was having difficulty producing "k" and "g" sounds. But since I had improved slightly and this was the first appointment, at the time, they hoped that my immune system would get itself out of whack and stop attacking itself.

While some of my movements improved over time, my blood work showed different, with ESR and CRP (both markers for inflammation) both too high. Sure enough, three weeks after I was discharged from the hospital, I had another flare … high fevers in the afternoon that broke through the naproxen, rashes that disappeared as suddenly as they appeared. I was also exhibiting pain and slight swollenness in my hands too. The symptoms now carried on for longer than 6 weeks, the duration before something can be called “chronic”, so the rheumatology doctors officially diagnosed me with Systemic Onset Juvenile Rheumatoid Arthritis (SOJRA).

My next step is 3 ml twice a day of the cortisteroid prenisolone to hopefully control the inflammation, on top of the naproxen and ranitidine that I was already taking. Long term use of prenisolone has many worrying side effects, such as weakening the immune system, osteoporosis, swelling and rapid weight gain. So if prenisolone doesn't work, we'd have to move on to disease modifying antirheumatic drugs (DMARDs), such as methotrexate or biologics. Let's hope we don't get to that point. We hope that the disease can be controlled with prednisolone alone, that the disease will go into remission and not be life long. In the meantime, my Mom is looking into alternative treatments, adjustments to my diet, including lots of Omega 3 (helps decrease inflammation) and probiotics (supposedly good for auto-immune disease sufferers). Thanks to everyone – our family, friends, doctors, nurses, everyone – who have been so supportive through this process.