An Emergency Consultation Request

I must apologize to my readership for not posting as often as I was the first few weeks; let me just say that the amount of writing that is involved in obtaining a doctorate is … well … immense.  I just realized after spending 14 hours today immersed in fine tuning my thesis research proposal, I haven’t posted in a few days and I really wanted to share something that happened late yesterday with you all.

I received an email from a Pediatrics Resident that was, essentially, a plea for help.  They have a 10 year old male who is in the PICU that is declining and they have been unable to determine a diagnosis.  In this email the resident includes a laundry list of laboratory tests that they would like to perform but admits that they really do not know if the tests would be helpful at all.  These tests had everything from B12 and an RPR to a Paraneoplastic Panel and much more.  The only additional information is that the child has myositis and they were in desperate need of any help that could be provided.

It was very apparent that before any recommendation could be made I needed to review the chart.  This child’s symptoms began the last day of a hiking trip in a southeastern state and started as leg weakness that progressed to full myositis (extreme muscle pain and inflammation for the muggles), then to heart enlargement, pleural effusion (fluid building up around the lungs), and now respiratory failure.  My first thought was tick-borne illness but that work-up had already been done and was completely negative.  A respiratory PCR panel had also been done that was completely negative.  Autoimmune screening, Epstein Barr Virus, coxsackie virus (A and B), all encephalitis viruses, blood cultures, CT scans, MRI’s … everything was negative; yet this child’s condition was deteriorating.  Every consult had already been brought in from Neurology to Rheumatology to even Psychiatry, but the testing was all the same: negative.  But there were indications that there was something seriously wrong.

This child’s CK (aka creatine kinase or a type of muscle enzyme) was more than 100 times normal and he was in a relatively perpetual state of metabolic alkalosis (pH is too high in his blood) regardless of the treatments administered.  The physicians had even performed a lumbar puncture but those tests were negative as well.

As I was going through all of the different physician notes, the nursing notes, the testing that had been done, what few tests were still pending, and all of the patient’s history and vital signs I kept coming back to that this has to be something infectious but we are missing it.  All of the tests are negative because the right test hasn’t been run yet.  There were two diseases that were sticking out that in my mind that hadn’t already been completed as negative: Echovirus and Chagas.  There was a test for Echovirus on CSF that was still pending.  Unfortunately it is not an in-house test, and with the holiday, the reference lab stated it would not result until Wednesday.  There was nothing ordered looking for Chagas.  I spoke with another colleague in the laboratory about my concerns for Chagas and she mentioned getting a report very recently from the state public health department about recent identified cases in hikers.  That was when we then explained to the Hematology technologists the situation and they began going through all of the slides looking for every one that belonged to this patient.  Given the insane number of specimens, and thus slides, that are made on a daily basis, it was going to take them quite some time to go through to find the slides and then go through each slide to see if the parasite was there (plus keep up with never ending parade of STAT and routine specimens coming in the door).

I then had to go back to the original email and go through each test that was being considered.  As it turned out, 2/3rd’s of the testing had actually already been done and was either negative or well within normal limits; the physician just hadn’t gone through all of the previous testing well enough to identify that.  Some of the other testing, like the RPR, was really a stretch especially given the patient’s age and that he didn’t have any type of rash or lesion on his skin.  There were a couple of tests relating to some very rare metabolic issues, like cartinine deficiency, that could explain most, but not all of the symptoms.  Given the vast majority of the current, and more likely diagnosis, testing was negative, you’ve got to then consider the really funky and rare stuff like cartinine deficiency.

Since I am still a resident and just finished my 1st month of residency, I still have to call the pathology resident on-call to get approval before I contact the physician.  The pathology resident, who just completed his 2nd year, had very little idea about why I wanted to not approve most of the testing, only do a couple of the tests requested, but add on something else.  He finally said, “It looks like you know way more about this than I do so it all sounds good to me.  Can you be sure to CC me on your response email, oh, and send it to Dr <so and so> who is over the path residents, please?”  Sure will.

I called the physician on the original email and explained the entire situation, including that we had contacted the reference lab to get an estimated timeframe on the Echovirus pending test results and that I had already initiated the pulling and scanning of all the patient’s slides for Chagas (yes, I know that this is not the most sensitive way to test for Chagas, but given that FedEx was not going to pick up any specimens for 2 more days because of the holiday, something is better than nothing).  I also went over the other testing that was not medically necessary.  She said they were out of ideas and they were just going to try anything hoping something would show up.  She didn’t know that what they were ordering was approximately $2,000 of unreimburseable lab testing.  She was very, very, very, (did I say very?) appreciative of my assistance on the phone and asked to be included on a response email so she would have my direct contact info in case she needed my help in the future.

Now do I have an answer yet?  No, I do not.  The slide scans for Chagas didn’t show anything.  We should have the Echovirus test results in the morning.  If that is negative we will send out IgM serology for Chagas tomorrow which is more sensitive than the slide scan.

One last thing: I do not want anyone thinking that the only reason the tests that were requested were denied was because of their cost. There is no reason to order testing for a genetic condition that shows up by toddler age or for specific autoimmune antibodies when all of the antibodies that are “screeners” for autoimmune were negative.  These were medically unnecessary tests that by cancelling them happened to save approximately $2,000 in unreimburseable healthcare costs.  I didn’t set out to save money, I set out to make that what was being done was appropriate and justified, as well as think of other things that had not been ordered that would be justified.  Just wanting to put that out there before anyone thinks otherwise.

Happy 4th of July!

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