Mystery Illness – We Have to Start at The Beginning

I’ve started writing this several times, but since the doctors who examine her always ask about when she was born, I guess I should start there too. Some dates will be exact and others approximate. It’s hard to remember everything from ten years. It’s also crazy long. I’m sorry for that, but I wanted to make sure not to miss anything. I’m not sure what’s important and what’s not, so I put in anything I felt might be relevant. If you think I’ve missed something, please ask me about it. Thanks for reading and for your willingness to help solve our mystery. If you have specific suggestions for tests we should have run or doctors that she should see, we’ll be thrilled to see them.

7/21/04 Ella was born at 36 weeks 4 days and weighed 6 lbs 4 oz. She was small but mighty and went home in 24 hours

7/24/04 She ran a 101 fever. I took her to the ER where they performed a spinal tap to culture for infection. She spent the next three days inpatient at Children’s Hospital in Oklahoma City on antibiotics just in case.

7/27/04 The culture was negative. There was no explanation for her fever. We were sent home.

In the year that followed, she received all shots on time except the varicella which we decline. She crawled at 7 months, talked at 9, and walked at 10. She was potty trained by 2 1/2. She was a happy, healthy little girl.

12/06 She developed an infection in her outer ear canal. Her ear swelled up until the normal folds were no longer visible and the ear canal was swollen tightly closed. It looked like an inflated balloon. There was a purplish circle around the ear approx 4 inches in diameter. She was taken to the ER and put on IV antibiotics. This was followed by a 10 day course of antibiotics at home.

2/07 She got the first of what was to be many episodes of boils. The first episode had 5 on her lower trunk, each from nickel to quarter size. Her Ped prescribed antibiotics.

In the next two years, she had 13 recurrences of boils. Never fewer than two or more than six. They appeared on mainly on her trunk, with two on her legs and one on her face. (I know because she still has faint scars from each one.) Each episode was treated with antibiotics.

11/07 She began having what I would call flash fevers. They were high temp, short in duration, and appeared randomly. (No discernible pattern.) She would be playing normally, then start to whine or when she was older would say, “Mommy, I don’t feel good.” Her temperature at that moment would be 103 or above. The fever would last around 15-30 minutes, never longer than an hour, and then return to normal even without any medication. Once the fever had disappeared, she would return to normal with no sign that she’d ever been sick. This pattern continued from age 3 until age 7.

During the same time period as the flash fevers, Ella had disappearing rashes. As with the fevers, they were short in duration and followed no discernible pattern. Either I would notice that she had a rash on part of her body, or she would start furiously itching. The rashes would last the same 15-30 minutes as the fevers. Rarely they would stick around for an hour or longer, but that was only a handful of times. The fevers and rashes only coincided twice. (Thank you to my friend Kara who made me keep a journal of them.)

When she was not flash fevering or rashy, Ella was well known among our friends for running low grade 100.5-101.0 temperatures. She would have at least one a month, and often two or three. It was so commonplace to us, and she felt so normal during them, that our friends thought nothing of still having play dates despite her elevated temps. Not a single one of her friends ever got sick from playing with her during these times. Our Ped tested for everything he could think of and found no reason for any of these symptoms.

While she didn’t pass stuff along, she caught everything that came along. Her symptoms would be many times worse than any other child we knew, and were likely to be the less common ones. Her doctor would refer to her as the “asterisk child.” If there was a symptom at the bottom of the page that said “possible symptoms” but not a for sure one, she’d be certain to have that weird symptom.

In spite of all of this, she wasn’t a sickly child most of the time. She was rough and tumble, and ran around as hard as any of the kids in our social circle. 

As she turned seven, the flash fevers and disappearing rashes became less frequent. By Fall of 2011, they seemed a thing of the past.

4/2011 She had a bladder infection. She was put on antibiotics. Three days later, the pain from it was severe enough to send us to the ER on a Saturday night. It took two rounds of abx to clear it up.

12/2011 She had a particularly nasty bout of strep. As it was her 2nd in 4 months, and our GP wondered whether she might be a carrier.

1/ 2012, the second toe on her right foot swelled up and turned purple overnight.

2/2012 Her left knee swelled up and was warm to the touch. We went to the ER at Children’s. They drained her knee and cultured the fluid. Nothing grew.

2/29/2012 She was officially diagnosed with JRA and put on methotrexate and ibuprofen.

4/2012 She now had five joints in flare. The toe, both knees, her left ankle, and left foot. Enbrel was added to her drug cocktail.

9/2012 The last of the flared joints stopped swelling. We continued methotrexate and Enbrel until 6/20/13

5/23/13 Ella was in an horrific scooter accident. She hit a bump in the sidewalk on her way home from a friend’s house. The handlebars whipped around, knocking out her top front permanent teeth, breaking her upper jaw in two places, and knocking her immediately unconscious. She went face first into the concrete and sustained numerous skin abrasions and a concussion which left her in an altered mental state for just over 24 hours. Due to her injuries she wasn’t allowed narcotic painkillers, and drug interactions meant she couldn’t take anything more than the ibuprofen she already took daily for her arthritis. She recuperated with a bag of ice as her main pain killer. 

6/20/13 At a routine quarterly rheumatology appointment, it was decided that she was in remission and that we could stop all medications.

1/25/14 Strep again. It loves her in Dec/Jan. Abx

2/8/2014 Ella woke up to her left knee flared. In the next two weeks, it would spread to 13 joints in her legs and feet.

2/20/2014 The rheumatologist put her back on methotrexate (although this time pills instead of injections) and a higher dose of Enbrel.

3/21/2014 She and her younger brother both had strep throat.

4/1/2014 She complained that her thighs “felt tired.”

4/2/2014 She said that her legs felt “heavy” and was limping.

 

4/3/2014 She would walk across the room from object to object, just a few steps at a time. Complained about feeling cold, but no fever.

4/4/2014 Slightly elevated temp 99.6. That night her knees buckled under her as she walked across the living room.

4/5/2014 Temp still in the 99s. She spent most of the day dozing on the couch because she didn’t feel well. When she walked, she used her cane for balance and support.

4/6/2014 Could only walk when using walls or furniture for support. Could stand for brief times unsupported.

4/7/2014 Visit to the GP. Blood tests were normal. Strength testing showed noticeable weakness in both thighs, particularly in her quads.

 

4/8/2014 Unable to stand unsupported.

4/9/2014 I took her to the ER at Children’s Dallas. She was examined by two neurologists. They did strength testing, but ran no other tests. Our GP sent over the results of the blood tests he had performed two days previous. No blood tests were done in the ER. After some time, and a disagreement as to which department would assume responsibility for her, one of the neuros stated that the muscle weakness in both of her thighs made no sense, and that she was clearly acting.  

Over the next few days, her legs gradually got stronger until she didn’t need the crutches for anything but balance, but didn’t need to lean on them unless she was tired.

4/16/2014 She saw the chiropractor. He noted the beginnings of muscle atrophy in both of her thighs. After an adjustment and electrical muscle stimulation, she was able to walk out of the office without crutches. She was wobbly but felt better.

4/17/2014 She complained about a sore throat and general feeling of malaise. Her temp was 99.7.

4/19/2014 She woke up with legs that were noticably weaker. She couldn’t stand unsupported by the crutches, and was unable to maintain a contraction in her quad muscles. They would rapidly tense and release – almost a quiver more than a contraction.

4/21/2014 Still complaining about sore throat. We saw our GP. Her throat was red and raw, lymph nodes were swollen. Strep test and culture were negative. He suggests taking her off of sugar, dairy, and all grains to see if there is a dietary component to what is happening.

4/28/14 Elevated temp 99.5 with a stomach ache and general malaise.

4/30/14 Knees buckle with every step. Relies heavily on crutches to stay upright.

5/5/2014 Appt with GP to get referral to a neurologist. He notices that weakness has now spread to lower legs. Her calves are doing the same rapid contract/release as her thighs.

5/10/2014 Neurologist appointment. He can find no explanation for her obvious weakness in both legs or the muscle wasting in her thighs. He theorizes that it may be related to infection and suggests that we wait a week to see if she improves on her own. 

5/15/2014 After a period of slowly regaining her strength, she has an elevated temp of 99.8 and complains of feeling tired all over.

5/17/2014 Her legs are weaker than on 4/30. She puts more weight on the crutches than her legs, because her legs buckle if she tries to bear too much weight on them.

5/23/2014 Elevated temp 100.1, achy all over, tired, stomach ache

5/25/2014 She can only raise her toes off the ground with concentration and effort. She says that they “just aren’t listening.”

5/28/2014 Quarterly rheumatology appointment with new rheumatologist. (Hers is on vacation.) The rheumy checks her joints and misdiagnoses elbows sore from the crutches as in flare. She remarks on how cold to the touch her legs are, then says that she has seen the original ER report from Children’s (when they said that she was acting). After a very brief strength test she says that she agrees with the ER’s assessment that this is Conversion Disorder and that she can find nothing organic as a cause. Routine blood tests from this day disagree with her as her CK levels are 3153 and aldolase 27.7 (we won’t know this for nine days) 

6/2/2014 Elevated temp 99.5 and she says that she feels achy all over.

6/3/2014 Elevated temp 99.8, still achy and her stomach hurts. She sleeps for most of the day.

6/5/2014 Awakes with legs too weak to use the crutches any longer. Our GP calls in a prescription for a wheelchair.

6/6/2014 Receive frantic call from rheumatologist’s office about elevated CK and aldolase levels. We are told to go to the Children’s Dallas ER immediately, which we do. They repeat the blood tests of 9 days previous, and CK and aldolase are back to normal levels. She is examined by three different ER doctors none of whom can find reflexes in her knees or ankles despite several attempts. Two nurse will try as well, and one finds minimal response in her left ankle if she hits it forcefully. One of the doctors also points out that she has foot drop in both feet. She is admitted as a rheumatology patient with a request for a neuro consult.

6/7/2014 6:30 am one neurologist stops by to check on Ella. She does strength testing and checks her reflexes. She finds very faint responses in both knees and ankles. Mentions that her legs are really cold.

2:30 pm A group of five neurologist stop by on rounds. They repeat the strength testing and reflex check. After one of them struggles to find reflexes, the attending steps forward and whacks Ella’s knees and ankles hard enough to get a response. Ella complains that it hurts, and later has bruising where she was hit on her left knee.  After a brief conference, they reference the earlier ER findings from our initial visit in April. While they don’t believe that she is acting, they decide that it must be Conversion Disorder. We are sent home with a recommendation for a psychiatric evaluation.

6/9/2014 New neurologist. The previous one wouldn’t see us after finding out that she is a Children’s patient (we should be going to them), and Children’s neurology asked our GP’s nurse point blank why she was wasting their time with a psych patient. We decided to go with a fresh opinion. She does strength testing, notices the coldness of her feet, and checks reflexes which are present. She orders an MRI of her lower and middle back.

6/13/2014 Elevated temp of 99.9, lethargic, achy, stomach ache

6/15/2014 Says that her legs feel funny “like they have something wrapped around them” which muffles sensation. That night I test her feeling by putting ice on her legs and feet. She frowns and moves away from me as best she can.

6/22/2014 Elevated temp goes from 99.2 up to 100.0. She falls asleep in the car on the way to 5:00 pm Mass. She leaves in the middle of Mass because she feels as if she’s going to throw up. I follow her to the bathroom and ask her how often she throws up. She replies a couple of times a week, but her stomach hurts most of the time. 

6/24/2014 Her right foot is floppy and she says that she can barely feel her legs. I repeat the ice test that night and she doesn’t react at all.

6/26/2014 10:00 am Follow up with the neurologist. The MRI was normal except for scoliosis in her lower spine. After repeating the strength testing, she says that she is unsure what else she can do for us. She has received the file from Children’s with Conversion Disorder listed as the diagnosis. She states flat out that she doesn’t know what is going on with her, and so will agree with Children’s that it must be Conversion. When I point out that other than the back MRI no one has actually tested anything, she agrees to an EMG and nerve study. She says that doesn’t expect it to show anything, but will do it to appease me.