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.

Wednesday, June 11, 2014


Life has gone on since our genome sequencing results.  We've been back into our outdoor routines, walks in the parks, annual fishing derbies, and waiting for the next call.

Today we had our three month gi check up.  Honestly, it couldn't have gone better.  Cole continues to remain in remission from his Crohns, so the remicade is doing its job.  He has been able to keep his weight stable and on the growth charts while his height keep exploding.  With any luck, he may be taller than me before he turns five!

In terms of his blood work from a gi standpoint, it was once again, the best they have seen it.  Cole truly is thriving.  For now, all of his gi treatments will remain as they have been, since the combination is working for him.

Just like our last sit down with immunology, we have been reminded that Cole is quite rare.  Not just the genetic abnormalities, just the various diagnoses he has been given are not handed out like candy on Halloween.  Even with such great progress, it seems we always have to remember what else Cole is facing, not that we would ever forget, we live our lives around his well being.  Still, I think of his rare as a gift, for that is what he has been to this family, a gift of light in so many ways, one with a glimmer few others are lucky enough to see.

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.