Fear of the Unknown: Medical Mystery

My daughter, Bella, has been labeled a "medical mystery". Back in February of 2007, when Bella was just 10 months old, she woke up a couple hours after we put her to bed with a high fever. I knew as soon as I picked her up that something was wrong. She had a weak cry, she was shaking and her pupils were so small they almost were non-existent. I quickly called for Marc to help me and we took her temperature. We watched as the reading went to 104.6 degrees. Bella had never so much as had a cold up to this point in her young life and we were shocked. I called our pediatrician's after hours service and they told me to give her some Tylenol and call back if she started seizing. What!?! So, we gave her Tylenol but after a half hour she was only getting hotter and shaking more. Marc and I once again took her temp and watched in horror as the reading went to 106.8. This time I called our old pediatrician who was almost 3 hours away. He instructed us to rush Bella to the nearest children's hospital. That was an hour drive for us. We called my parents who came down immediately. My Dad stayed with Kyle and my Mom hopped in the car with us and we headed off. After the nurses and doctors got done running blood work, taking a catheter and drawing a urine sample they diagnosed her with a urinary tract infection. There was no indication from the urine sample that she had a UTI- but that was "the only thing that could explain a fever so high". She had no other symptoms besides the fever. They administered antibiotics via shot and gave us a prescription to fill the next day. We drove back home exhausted and worried. Neither one of us slept at all that night. We were alternating between Tylenol and Motrin every few hours but nothing would bring the fever down past 106 degrees. We were at the hospital emergency room three more times in the next four days and then all at once the fever stopped. March rolled around and once again Bella woke up in the middle of the night with another high fever and we went through the same routine. April and May both brought more of the same and every time they diagnosed Bella with another UTI even with no true symptoms or proof.
In late May 2007 we moved back to where we are currently living. Back to the pediatricians that we knew and trusted. June came and once again, so did the fever. Again- with no other symptoms besides a fever. I took Bella in to see the pediatrician that we loved and he referred us to the doctor that was owner of the practice as he felt Dr "K" would be better for Bella's case. I didn't care for Dr. K at first as I thought he was rude and full of himself but I quickly realized that I had misjudged. He was intrigued with Bella's case and amazed at how much I had documented over the course of the last few months. Keeping track on a calender the days- and even times- that Bella's fevers started, the temps throughout the day, and the day they stopped. I had journals of what she did every day, what she ate, how she slept, clothes she wore, places we went, people we were around, how she acted, etc. From my notes we realized that there was, in fact, a pattern to Bella's fevers. She was having fevers on a cyclic timeline- every 26-28 days- and they would last for 4-6 days. We decided to start running tests to see if we could find out what was causing her fevers. I had no idea what a whirlwind journey we were headed on.
Over the next several months I would meet with our pediatrician once a week, and during Bella's fevers I would take her to see him the day they started, about the middle, and then the day after they stopped. I took her to see many top specialists including: Infectious Disease Specialist, Rheumatologists, Cardiologists, Hematologists, etc. They all ran their own batch of tests and made referrals to yet another specialist and another. Bella had several tests done including: ultrasounds of almost every part of her body, every organ, a VCUG of her bladder, an echo cardiogram, x-rays, blood work, urine cultures, hearing and vision tests, CT, etc etc etc.
We were getting in to the best pediatric doctors in the country.........and instead of the 2-4 month wait that is typical, we were only having to wait 2 weeks at the most. With every specialist we went to we would hear "We wanted Bella in here quickly because her case is so intriguing." As a mother I wasn't sure if that was a good thing or not. I remember, however, that we had to wait almost 6 weeks to get in to see the rheumatologist. I dropped off copies of Bella's file weeks in advance for her to review. The day of our appointment we saw another doctor who sat in the room with Bella and I and asking a ton of questions. When I rattled off one answer he looked at me puzzled and said "What is that?" HUH?!? I explained it to him and he said "Oh." I was NOT thrilled when I found out he was a medical student trying to buy time for the doctor who was arriving late for my appointment. When she arrived she sat down and started asking the same questions that the student doctor had just asked. When I told her I had just answered all of these questions and he had written them down, and that all the information was in Bella's files she told me she had not "taken the time " to go through Bella's file and that we would need to make another appointment for a month from then to come back to see her. I was furious!
I, as kindly but firmly as I could, said "Dr. X, I respect the fact that you are probably an extremely busy physician which is indicative of the six week wait that I had before being able to get an appointment with you, however, I am here now. I do not plan on walking out of this room, making another appointment with your receptionist, wasting a $25 co-pay, and driving back home in the snow storm like I did to get here to waste thirty minutes of my day speaking to a medical student who never introduced himself as such. I waited six weeks, drove through a snow storm and paid my $25 co-pay to see you. My daughter has a condition that causes her to have cyclic fevers that come once every 26-28 days and I don't know why. I want to know why and the last specialist I went to referred me to you which leads me to believe you might have some answers. I dropped my daughter's file off almost three weeks ago- as you requested- so that you would have time to review it. IF it is still here I would like for you to go get it, bring it back in this room, and we can review it together." The doctor looked at me shocked. She asked me "What is your main purpose for being here?" I told her "I love my daughter and I want answers. I want answers sooner than later and if you don't provide them for me I will find someone else that can." The doctor left the room with a slam of the door and I hung my head and cried thinking I just ticked off the "best" pediatric rheumatologist.........someone who might have been able to help my daughter. Imagine my surprise when the doctor walked back in the room- with Bella's file. She sat down and we spent the next hour discussing everything we could think of. She ordered a few tests and recommended me to a hematologist. She said that he would be the next logical step in our process and depending on what his findings were we would know if we had to come back to her or not.


After seeing the hematologist we had to go for a 6 week course of blood work in which we would see our pediatrician in his office three times a week for 6 weeks. They were checking for cyclic neutropenia among other things. Every time we went to his office he would draw two viles of blood to do a full work-up/CBC to see if and how Bella's blood work would change during the course of a fever cycle. The only thing the blood work showed was that Bella was anemic, and severely anemic at that. I could not understand how she could be anemic with the diet she was accustomed to. It didn't make sense to me or the doctors. But for some reason her body was not taking iron from what she was eating and absorbing it as she should.

The doctor's put Bella on an Iron supplement which we had to give her three times a day and then have a follow-up appointment with the Hematologist after three months. In February 2008 we went back to see the hematologist and he was thrilled that Bella had not had a fever since starting the iron supplement. He admitted that even though he could not make sense of a cyclic fever due to an iron shortage it was the only thing that made sense. He asked us to keep him informed if the fevers started back up.

February and March came and went with no fever. Then in April and May the fever came back on the same day it would have been due on had she continued with them the whole time. This fever was not as high as previous fevers and it did not last as long. The highest it reached was 103 degrees and it only lasted for 68 hours.

On top of the fever issues I was having concerns with Bella's language development. She was no where close to where she should be developmentally and I feared that this was an effect of her high fevers. At two years old she was only saying six words- and even those were not clear.

So in June we went to see an Ear, Nose and Throat specialist. They performed hearing tests on Bella and found that she had so much fluid behind her eardrums it was almost as if she were deaf. The doctor told me that it would compare to you laying down in a bathtub or swimming pool while someone tried to talk to you above the water- you would have a hard time hearing them but an even harder time making out what they were saying. The way Bella was speaking is how she was hearing the words- mumbled and jumbled- like you would if you were surrounded by water. Given Marc's family history with hearing problems and hearing loss the ENT recommended that we put tubes in Bella's ears- and soon. "Soon" ended up being very soon and less than two weeks later we were watching the ENT carry Bella through the operating room doors.

Marc and I were hopeful that maybe this was somehow related to the fevers and that once the tubes were in the fevers would stop. With July came another fever..........and another one in August. September went by quickly but every day I watched as the date, for when Bella should get her fever, get closer and closer...............and then passed by. YEAH!

Since the fevers had gotten lower and shorter in the last few months I was excited and even more hopeful than ever that maybe this was it. Maybe the fevers are gone!?!

There were so many days where I would look at Bella going through these tests and think that we were putting her through torture for nothing...........but then there were other days where I felt we weren't doing enough. I would be online every day and every night searching high and low for some kind of clue, some answer that would bring us a break-through. It got to the point where I could actually carry on an intelligent medical conversation with the doctors and not feel like an "outsider" in the medical "club". I would read something that would fit or make sense and the doctor would test for it. In fact, I was throwing around so much medical lingo that family and friends were encouraging me to go to nursing school. It wasn't that I had a love for medicine................I have a love for my daughter. There were so many nights that I would research online until I fell asleep with the computer on my lap.....or watch the sun come up and realize I hadn't been to bed........or go to bed and cry myself to sleep. I would walk down the hall and peak in Bella's room only to find Marc sitting at the foot of her bed watching her sleep- with fear, concern and love in his eyes. I remember one night watching him watch her sleep and I had to walk away as my eyes filled with tears. I didn't want him to know I saw him. I imagined what he was thinking and it broke my heart. Marc is a fixer........in profession and in personality. I imagined that he was staring at his little girl and wondering why he couldn't "fix" her.

I know that Bella's fevers are not God's fault........but there have been many moments where I have questioned Him, been angry with Him, doubted Him, and blamed Him for not providing an answer or a cure for us. There were also many times when I asked Him to give it to me- whatever was causing Bella these fevers, give it to me, make me suffer.........not her.

Dr. K asked me once how far I was willing to go and when I was going to stop looking for an answer. I told him that my biggest fear was quitting without knowing. I didn't want to have something happen a few years down the road and hear a doctor say "If we would have caught this/found this earlier we could have......" I told him I wanted to go all the way............I want an answer........and I am not going to stop until I get it.

Now I am not saying that I want a doctor to find something terribly wrong with my daughter. That's not it at all. In fact I don't want Bella to have these fevers anymore or to have ever had them in the first place. But there is a terrible fear in the unknown. My pediatrician has been amazing and his wife and staff had told me he is perplexed, and has also spent many nights researching online, contacting colleagues, and been frustrated as he runs out of ideas. I feel that we are almost the same person sometimes, on the same mission, after the same goal.

I have been told numerous times that Bella is a "medical mystery" and that some things in medicine "just don't have answers". That's not good enough for me.

Bella is a healthy, happy, active toddler. She does not get colds, flus, or any other kind of illness. That alone makes me curious. How could a child never get sick with even the most common of illnesses but yet, like clock work, come down with a fever every month with no explanation? A fever that leaves as abruptly and without warning as it came?

Bella has been through so many tests and gone to so many doctor's. Even throughout her blood work she never once cried. She would sit on my lap and hold out her arm for the doctor and say "Here go!" every time she saw the needle. She is probably the bravest person I have ever met. Most children hate going to the pediatrician but Bella loves to go, and she loves her doctor. So when is enough enough? Should I be content that my daughter is a medical mystery and put an end to the testing?

We feel like we have run out of options. We have taken all the roads and gone down the path less traveled and still come to a dead end. We feel that we have done every test and seen every specialist that we possibly could but are still left with the same questions. Why does she have these fevers? Where do they come from? What are we forgetting? What are we overlooking? Will we ever have our answers?

My hope is that someone, somewhere reading this might have gone through the same thing or know someone that has gone through the same thing. Not that I wish this on anyone but I am hoping that there may be some ground we have not covered.

A stone we have not overturned.

Today Bella was happy-go-lucky one minute and giving me hugs and kisses. Ten minutes later she laid on the floor and was sucking her thumb and moaning. When I bent down to kiss her she was burning up. I got the thermometer out and just that quick her temperature was up to 104 degrees. Ten minutes! So not only are the fevers back again at their regular intervals but they are getting higher again. I am desperate for answers. Answers to questions that no one seems to be able to answer for me. Answers that I think- that I KNOW- my daughter deserves.

~Heather :)