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.

But

Never has there been a contradictory word that drives me crazy like the word 'but'.  It's a nails on the chalkboard kind of crazy or like my apostrophes gone wild pet peeve with my middle school students who sprinkle their writing with them as if they are topping an ice cream sundae.

So when our immunologist started off with a positive, I waited for the other shoe to drop after she uttered the word 'but'.

To begin, we were told the good things Cole has going for him, that most of his immune system was wonderful, but there was a key part of it that does not function.  This means that there are a particular class of viruses that could be life-threatening to him if he were to have exposure to them either directly or by the rest of the family having contact with them and bringing the shedded germs home.

However, due to the rarity of this nk cell dysfunction, the relative new nature of studying this disorder, as well as the limited amount of research in kids Cole's age, the actual diagnosis may not be solidified for another year. Before they will confirm this disorder with any kids, they usually have a least a year of poor nk cell tests, or at least six tests.  At this point, Cole has only had two.  Doctors also want to rule out the possibility that these results could stem from his g.i. disorder or class of drugs they are treating him with since there is a study that links the two with decreased nk cell function.  Once again, our physician is unclear since there is only an old study dealing with adults and the information regarding kids like Cole and their nk cell studies just are not available so it is tough to truly tell us if their is a link or if he can just be diagnosed.  For now, they are just classifying Cole as having an immunologic disorder. 

With the information we have, we also need to make some decisions about the level of risk we are willing to take with Cole's immunizations.  The majority of them are will be safe for him as they are killed vaccines, but any live vaccines can have life threatening complications for our little guy.  For example, if we do go ahead with the chicken pox vaccine and see one little dot, we need to take action immediately without waiting to see what happens because things could go downhill quickly.  At the same time, the benefit of the shot could outweigh the risk. Ultimately, we are gambling whether we get the shot or not.

Yet again, our immunologist has consulted another researcher.  This doctor is in the process of leaving the east coast for another position in the southwest.  If Cole's blood work next week shows he has not started to form and antibodies against the herpes class of viruses like chicken pox, Epstein Barr, etcetera we may need to meet with this doctor as we move forward.

In the meantime we are to do what we've been doing, keep up the limited exposure to everything, monitor what our older kids are exposed to, and wait.  At least the weather is incredible so we pace a different perimeter.

While we continue in the holding pattern, we are desperately trying anything to bulk up this boy.  In the past week he has continued to lose weight.  Not much, but it is still a loss despite the various high calorie/ high fat foods we have been offering him.  There's about a week and a half until his next weigh in at g.i.  At that point, without a significant gain we may be discussing other measures to get him moving in the right direction.

Overall, despite the long appointment and time our doctor spent with us, the news was about what she had already told us.  On the flip side, there wasn't anything new or worse, so we are pretty thankful today.

Once again, I cannot explain the gratitude I have for family and friends who are there when we need you yet also understand when we have just needed breathing room.  Your messages and phone calls have often come at times when I've doubted my strength or patience in all this waiting and while I know all our changes and sacrifices are for the right reasons, when I'm frustrated at them you've reminded me this is where I need to be now.  Please know, in my heart I know this and I am absolutely sure we are doing the best we can for Cole, and if faced with these choices again, I would make them all.  Everything happens for a reason, and your love, kindness, and prayers are appreciated so much more than I can say.

Love to all.

Anniversary

Funny how you can remember when certain things happen as if they were time stamped in your mind. The last weeks of February bring Valentine's Day and Nick's birthday. Somewhere in between the two is when all of this began with Cole just over a year ago.

It is difficult to believe a year has passed and we are still searching for answers.

On Monday we learned from our immunologist that Cole does not have CGD, however his nk cell function still came back in the low single digits, slightly lower than the test in the fall. From a medical standpoint, she explained the importance in understanding why Cole's nk cells are barely functioning. Once again, our doctor has reached out to a leading expert from Cincinnati Children's Hospital because at this point she has run all the "normal" tests they would in this situation and is not certain how to proceed. Since the physician in Ohio is the nk cell guru, she should be able to give us a further recommendation or know of a research study that is looking at this type of cell dysfunction with his other symptoms. She may be able to validate a connection between the nk cells, granuloma, and Crohn's Disease, which, as progression is documented over the next few months, may finally be officially diagnosed. Right now there is still the question if all the inflammation is Crohn's or a symptom of something else as many of the different primary immunodeficiency diseases wreck havoc on various organ systems, including the digestive system. Funny how at this point in this journey we are praying it is only Crohn's. There are still many obstacles having this so young, but looking at the other possibilities, this is the lesser of all evils. If this is the case, not only will he continue on his course of current antibiotics, but there is a possibility Cole will be placed on prophylactic antiviral medications to help ward off infections before they can start.

The watched pot never boils, the same is true with the phone. It seems when I am given a time to expect a call it never comes, so instead of anxiously sitting by the phone Thursday morning, I stepped out for an hour with some friends for coffee. Of course the call came, however our physician assured us she would call back at 12:30. Around five I gave up on hearing from her for the day.

So, today should be the day for news. I've got my pen and paper ready for notes, my questions prepped, just need my source. After a year, I am not only ready, but almost desperate for definitive answers, even if it means another turn on this path, anything that brings the doctors closer to the information they need to help Cole.

Once again, thank you all for the message and prayers, your support and love help us stay strong. We love you all.