Come What May

There are times I wish I had more to update, and there are times I wish I knew just where to start.  For now, it will just be where I left off.

Earlier this summer we agreed to have some further genetic testing completed.  While it was expensive and considered elective, doctors still felt it would give us a clearer picture of the stxbp2 mutation sites and its relation to the likelihood of Cole developing HLH.  Sadly, once the lab received the blood and initial results from the exome sequencing completed at Baylor they realized they could not run the test at all.  Basically, Cole's mutations are found in the silent region of the code, which their test can not detect.  While our physicians still believe further testing is necessary, they are currently discussing the possibilities with leading doctors at Cincinnati Children's to determine what testing they are able to offer.  At the same time, Baylor is repeating exome sequencing and comparing results to this year's genome database.  Bottom line for us, more waiting.

In the meantime, we've continued to stay busy.  Lots of hikes and swimming this summer. The kids have found a love of geocaching, and have been lucky to be with friends who have tools to treasure hunt.  It's nice to have a new spin to our favorite hikes once on a while! We were also lucky enough to be able to go camping in the mountains, which was a much needed change of scenery for all of us.  There is nothing like being disconnected by choice  surrounded by water, trees, and wildlife to soothe my soul and reconnect with each other.  Beautiful week together as a family, sprinkled with visits from some family and friends.

After a night of very little sleep we decided to come home.  Cole had an ear infection that quickly developed into a double ear infection, pink eye, and terrible cough and cold.  We just got his ears under control, medication finished when the oozing started all over again this morning.  In addition, even with his chest xray coming back clear for pneumonia last week we have been told he has reactive airway, possibly asthma.  He received a nebulizer treatment today and I hope it means he is not up coughing half of the night. While I don't want yet another issue for my Bean, it would be nice to have a better explanation for the few times we've been sent to the hospital for his coughing up blood.  They have talked about reactive airway a few times already, but have been watching to see if anything changed.  We will see what the new specialist has to say when we see him later this month.

Besides a sick visit we also spend a few hours with Cole's gi doctors today.  The good news is that they are generally happy with his progress.  While he has had signs of flaring close to infusion time, for the most part they feel he has been staying in remission.  There is concern once again about his weight.  He has not been gaining at a rate they expect.  This could indicate his body is not absorbing all his nutrients.  We have until his next visit to get him gaining with just diet before they start supplements again.  The problem is, he hates the different drinks they had us try in the past, so I'm hoping by pushing Greek yogurt dips, and other high protein snacks we can help him put a little bit more meat on his bones.  Personally I think this kid just runs so much he can't keep it on - he ate two Turkey sandwiches, an apple, and cheese cubes for lunch yesterday! I don't see why he isn't gaining more.  But we will keep trying.

We also have to get him scheduled for a colonoscopy.  While I knew it was coming, I'm dreading this. I hate the prep for myself, and the last time Cole needed one he was just over a year old.  Logically explaining to a three year old that they must drink this terrible liquid and that they can't eat what they want is not going to be a picnic.  Distracting him by going for a walk isn't an option either because he will need a bathroom.  I think we may need the big guns, maybe even Spiderman.  This is something I wish I could do for him, breaks my heart to know he has to do it, but the only way to see the progression of his disease is to scope him, so the sooner the better.

In a nutshell, so much ahead, and so much waiting at the same time.  For now, we are back to one day at a time, and one night at a time.  Some days we have a blast playing outside others he just wants to snuggle in the chair.  I'll take my cues from him each day. We're both loving our at home mini lessons on letters, shapes, and the neighborhood, so for now we will focus on the fun and let the rest of this come as it may.