Thursday, March 13, 2014

The Wait is Over....Sort Of

When you're waiting so long for news, you're always anticipating the call.  Yet, in waiting so long, we've almost been lulled by our routine that everything is starting to get back to some semblance of normal.

Last week we had a reminder that for now, that still isn't the case.

After developing a pretty high fever, in addition to vomiting, immunology told us they wanted to see Cole.  When we went in on Thursday it seemed Cole was over whatever he had  been fighting on Tuesday night.  His doctor was happy to see he was doing better and was ready to share Cole's exome sequencing results.

As long as we'd been waiting for this day, I was just as nervous as I was excited.  Whatever our doctor was about to share could change, even shatter, the cushion of comfort we've finally wrapped around our family.

Ultimlately, Cole has an autosomal recessive genetic mutation which indicates the possibility he will develop hemophagocytic lymphohistiocytosis, or HLH.  According to Cincinnati Children's, "HLH is a disorder of the immune system in which too many infection-fighting cells are produced and activated, causing damage to organs."

As most children affected by HLH are diagnosed after they have been ill, it is hard for doctors to predict what will happen with Cole, or whether he will ever develop HLH.  For now, they know having the mutation could explain the underlying cause of Cole's nk cell dysfunction as well as help them diagnose HLH in a timely manner if he were to develop it.  Time is essential in diagnosing HLH, as without treatment it is 100% fatal according to Cincinnati Children's.  Treatment is a bone marrow transplant.

For now, the plan with our doctors is to continue to be vigilant regarding exposures to any contagious illnesses with Cole.  In addition, at the development of any high fevers, immunology will be contacted so together we can monitor and track how the fever progresses as a warning sign of HLH is a persistent high fever.  After a certain pattern, Cole will be sent for blood work to determine if HLH has developed.  Doctors in Houston will also be looking at his current nk cell function with a new sample.  The hope is that with his Crohns in remission we might see some slight improvement with nk cell function.  If this is the case, based on what they know, we might be able to rule out the likelihood HLH will develop.  Since Cole has been sick, we have to wait a bit to send the new sample.  Locally, Cole's immunologist will be looking at his blood to see if he has developed any antibodies towards the various viruses we have been told his body cannot fight.  If we have had an unknown exposure and Cole has fought it, his doctor may reevaluate his current diagnosis.  So much new information, yet even more questions, not just by us, but Cole's physicians.

After hearing this news, my head was spinning.  Sure, Cole hasn't been diagnosed with this disease at this point but the possibility is frightening.

After falling asleep early Thursday night, Cole woke up crying and heaving.  It seemed he needed  to be sick, but couldn't.  When he finally was, he threw up blood.  We were sent to Children's Hospital.  Despite seeing liquid around his stomach in an ultrasound, the ct was clear so we were sent home.

Cole was pretty lethargic on Friday, but we chalked it up to being poked and prodded all night long, after all we were tired too.  By Saturday evening, he was throwing up or coughing up gobs of blood.  The increase in the amount coming up was alarming.  We went back to the hospital.  After being admitted, our gi doctors went back through the various tests and told us that Cole had pneumonia, which was present on the tests from Thursday.  After some antibiotics and fluids we were able to come home for Cole to recover.

As a whole, a pretty eventful week.  In terms of the news, we are taking it one day at a time, none of this could be expected, and none of it is in our control.  Like the rest of this journey, we have to believe God has a reason and trust in His plan.

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