Friday, October 17, 2014

Deep Remission

So Cole has had his scope and yesterday we got the news that his biopsies show he is in DEEP REMISSION!

His gi doctors told us that we are doing a great job with him, which was something I needed to hear because there are many days that I have felt almost helpless, not being able to take this away.

While we are still waiting for some kind of news regarding what the next step with his immunodeficiency will be, we are so thankful for where we are right now.  There are still many limitations, but to see him, he is perfect, all of these diagnoses just seem unreal.

Two years ago, when faced with the choice of remicade or surgery for Cole, I feared for his future.  Never did I imagine after his hospitalizations and difficulty to thrive for so long that he would catch up to be right where he should be.  We are so grateful that our prayers have been answered and he is doing so well.

Until we have news from his immunological team we continue the remicade therapy every eight weeks and wait for the next step.  His gi physicians are continuing to reach out to other professionals, sharing Cole's story and discussing the latest research with early onset ibd and the best long term treatments.  So thankful for their diligence and constant support for Cole.  While they applaud us, without them,he would not be doing nearly as well as he is, which is truly all that matters.

Wednesday, September 10, 2014

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.

Saturday, July 19, 2014

New Testing

Another busy one next week.  We have Cole's infusion but are also supposed to see genetics.  

Yesterday we spoke with Cole's immunologist, the genetic counselor felt as we've already discussed the HLH at length with immunology, there wasn't much more to add with a session.  Hopefully this means the sample for the test can be drawn at the same time as his routine labs before his infusion starts.  The less Cole is a pin cushion, the better!

This test should only take around four weeks for results.  Even though we have the first exome sequencing results, this test will provide a better look at the STXBP2 coding, which is the primary gene the physicians are concerned about.  While the test is expensive, it ultimately can change the course of where we are headed.  If it is decided that yes, HLH is a certain risk, we will be immediately referred to Cincinnati Children's to meet with the HLH experts and develop a plan of action.  If it is determined HLH is unlikely, Cole's team of physicians can focus on other roots of his nk cell issues.  If we decided to wait on this test, in the event of an HLH episode, the timeliness of moving forward could be devastating as we waited for a plan to be put in place.

To us the choice was obvious, do the test.  The wheels for this one will be in motion in just a few days.  Not by any means do I want to wish away summer, but my nervous excitement cannot wait for the beginning of September, by then we will have another piece of the puzzle.  That is priceless.

Wednesday, July 16, 2014

Just Get Over It

Sometimes letting go is easier said than done.

People have told us point blank to get over it.

How do you just "get over" the idea that your child has been given various diagnoses that may dictate their very existence? How do you just let go of the adventures and dreams you have for them? How do you abandon all that you've been growing and cultivating before this point?  How do you let go of what you cannot change?

Even now, a few years in, I can't answer these questions nor can I tell you I've been able to "let it go" or "just get over" most of this.  Although, I've certainly overcome and let go because of the past few years.

Fear used to consume me.  I was often afraid of not being good enough, not meeting expectations others set, not reaching the bar, ultimately terrified I was failing.  Was I a successful teacher? What if I wasn't doing well enough for my students?  Did other people have a good opinion of me? Was I raising my kids the right way?

I was constantly worried about so many external variables, I pushed myself to do what others wanted from me.  To meet their expectations, to be what I thought was successful, I often gave more of myself to others than to myself, which I lost.

Cole's journey has taken me beyond this, to a place of release in some ways.  Despite
the deep ache I still feel when I drive by my old school or the sheer sadness when our Bean is accessorizing with wires and ivs, I'm over so much.

I've found the confidence to stop worrying about failure so much, in fact I've even sent some queries and am about to pitch a non-profit idea at a meeting next week.  By saying yes to situations I've been avoiding because I worried about a million questions or what people thought about our choices with Cole I've found so much richness and support in the friendships I'd been missing.  In addition, I've been much more attuned to the little things in life and the true colors of those around us.  Finding those who truly care for us has been just as eye opening and unexpected as learning who suddenly treated us as if we had the plague.  I'm over their issues with our situation, and know now not to take it so personally, it's their problem, not ours.

As time passes, I don't know if I will ever just get over things or let anything else go.   But I can tell you, that I now know, the puzzle pieces I left behind, permanently attached in some cases, are just as important to the pieces I can pick up to carry with me.  Realizing which was which has been liberating, honestly the best lesson continue to learn in all of this.  I'm so grateful to those of you who have shown me this past year what I seemed to be blind to.

Thursday, June 12, 2014


In the midst of our journey, I have had a nagging in the back of my head, a foundation I would like to start, run, and make a difference for parents and caregivers like us.

I know little about beginning a non-profit foundation, nor do I have my own start up funds, but I know about helping people.

While I've had a couple contacts for a while, I finally took a leap, with the faith that my idea wasn't all that insane, and sent out my proposal last night.  I'm looking forward to feedback from these individuals as well as direction to make this thing take flight.