Friday, August 14, 2015

Just Is

I often wonder if the doctor can feel the energy drain from the conversation when she delivers news and if that's the reason she says she is sorry.

There isn't anything to be sorry about, none of it is anyone's fault, it just is.

When it is, you learn.  You learn to accept, learn to cope, learn to adapt, learn to let go.

Today we received an email to call Cole's immunologist as soon as we were able, she had our news from Texas.

Nothing has changed.

The nk cells are still not working.  The hope was that maybe that would change, not so.  Researchers still are not clear on what the underlying cause is, so they have decided to rerun all of the genetic tests, not just on Cole, but the rest of the family as well.

There were markers on cd16 that the doctors are curious about, so they are exploring the possibility of further genetic tests for this particular strand, much like the stxbp2 tests that were run last winter.  First step with that is seeing if the insurance company will allow the test.  Since cd16 has a direct correlation with Crohns Disease and after the amount of tests that have been run on Cole to this point, our doctor feels there is a good possibility this test will be allowed.  Of course like all genetic tests, it will take more time.  Like before, we will wait.

Sadly, school cannot change its start date or wait for long.  As of right now, Cole will not be going to school.  Which also means the likelihood I can return to full time work outside of home is slim.

His doctor is running a few additional labs next week at infusion to see if there are any antibodies to the different viruses he is susceptible to with his nk cell dysfunction.  If there are any antibodies in his labs, it would indicate an exposure and a possible ability to tolerate that particular virus.  If this is the case and only if this is the case, we can discuss school, if not, he is home with me.

I am grateful for all his doctors are working on, as well as all the support from family and friends.  I know we are fortunate to have our healthy girls and for Cole to be doing as well as he is right now.   At the same time, I struggle with the feelings of sadness because there are so many milestones we are approaching that will be unfulfilled.

When we were young, Nick and I would sit and talk for hours about the dreams we had, the life we were building for our kids, how much fun it was going to be to watch them grow and find their passions.  Recitals, scouts, field trips, sleepovers, sports, family trips, you name it, we brainstormed all the possibilities.  What they might love, the things we were going to do.

 Never, never did we picture holding down our child as he screamed "no needles" or thought the tight knit friendships we had built would unravel because our new situation was uncomfortable for others.  We never pictured after years of tests, doctors still would not have key pieces of this puzzle to be able to focus on putting it all together.  Never did we think our other kids would have to face such harsh realities of life when they should be playing with dolls.

Yet, here we are.


Stuck in a place we surely thought was temporary.  I'm still hopeful that it's possible the next test will miraculously tell us something else, something that means we can stop taking turns on the sidelines, instead guiding Cole into the game too.

In the past four years, I'm not so sure I've learned to accept any of this, not sure I've been able to let go of all the dreams I have for my kids or myself for that matter.  I'm not even sure if I'm coping well or not, or if I'm merely treading quicksand.  I do know I'm trying hard to adapt to every curveball thrown at us, all of which I never could have pictured taking a swing at in the first place.

Wednesday, July 8, 2015


So Cole's Facebook page has kind of taken over for short posts.  I really have so much to update here, and will be a bit more diligent in doing so.  I have to thank you all for being so loyal as followers and really commenting a ton on Cole's Facebook page. :)

Yesterday we ran a few errands because the weather was miserable here again.  I'm a sucker for a clearance, and happened to see some Cars sneakers on the rack.  Cole was so excited...they are the perfect size for fall, just a little bigger than he is now.  He put them on, saw they lit up and exclaimed, "Yeah!!! My sneakers for school!"

School.  School is something we still don't know if he will be able to do.  School is something he asks to do each time we drop the girls off or pick them up.  This fall is supposed to be preschool.  I'm not opposed to having to homeschool, but as a former educator, there is a big part of me that would like him to have the school experience, academically and socially.

At his infusion two weeks ago, more blood was sent down to Houston.  Doctors are once again evaluating his nk cell function and hoping there might be a change.  For now, preschool is off limits, which makes me a little sad.  My girls both had incredible experiences in their programs, thus one of my big reasons for wanting the same for Cole.

Cole does have teachers that come to him.  Luckily, we have been assigned an amazing speech teacher and will be working with her again in the fall as well as an occupational therapist.  He loves to see his teacher and is not only excited about his time with her but demonstrating what he practiced with her once she leaves.  Far cry from the worry I had whether or not he would want to work with her, this summer he has been missing her!

Until then, as we start gathering supplies for the fall, I will keep my fingers crossed for Cole.  Even if he can't go to "school" he will have school, and I will do my best to create as much excitement as I can, even down to his new sneakers and his very own backpack only for school, not the hospital, just as he asked.

Saturday, December 13, 2014

er waiting

In er...waiting.  Cole had a few episodes with blood so doctors felt it be best for him to come in, even though everything else is fine.

Friday, December 12, 2014

What is HLH?

I posted this to Facebook, but this is the big bad wolf so to speak.....

Thursday, December 11, 2014

Fast and Raw

Sometimes a reaction is fast and raw to news..this is it, it's all I have in me tonight, since my head is reeling and my heart aches thinking about all of this.  Take it as you will, unedited and in its full nakedness of emotion.

While we've been on an upswing from one magical weekend, from Laurie Berkner to birthday cake and Christmas crafts, it was time for the pendulum to swing back into reality.

It's funny, there are so many days I sit with Cole, play with him, snuggle with him that it baffles me to think there is anything wrong with him.  Seriously, I believe it is all some kind of a fluke, a mix up of some way.

This afternoon it all came down  at once.  Persistent beeps from the other line had to wait as I tried to help Nick with his truck issue even though the source of those tones was that of our albatross, the call about our invisible chains, the invisible disease possibly polluting my precious boy.

Once the truck was taken care of, we had to wait until later in the evening for the call to come back.

Here's the thing.  While it is news, it isn't.  While it is breaking my heart tonight, it honestly isn't anything we haven't been told before.  Yet, that being said, hearing it all over again has ripped the bandage off a still festering wound.  I just want my son to be healthy and normal.  I would give everything for that.  To be told you may have some very difficult decisions ahead of you regarding your beautiful almost four year old just isn't right, it isn't fair on so many levels.  Truthfully, what breaks my heart the most is that he doesn't know any differently and watching him so full of life, innocence, just makes all that might come that much harder to accept.

And there it is, the word might.  It is still all such a crap shoot.  With genetics it is all about the possibility and probability.  IT is likely, but it may never happen at all.  If it does, it is often fatal, then again, it may never be an issue.

Here is what we know.  Cole has this mutation in the STXBP2 gene.  The information from the whole exome sequencing tests is contradictory.  One way of looking at it indicates the mutation falls in a silent region of coding, one that really doesn't really affect the body and is very hard to detect.  Not that it can't be something to worry about, but the likelihood is slim.  The second way of looking at the results indicates hlh markers, the higher probability Cole would be impacted by hlh with the right triggers.

Our immunologist and genetic counselor here in Buffalo have talked with geneticists in two different labs. Both labs agree that the data we have was contradictory and belives we need to move ahead with more tests. They said the recommendations are at extreme ends of the spectrum.  One felt we should look at every single gene that could be an hlh marker,almost like a witch hunt as we have had this run before with the whole exome sequencing and the only hlh gene that was indicated was STXBP2.  Then again, it would also rule every last question out regarding hlh risk for Cole.

The other lab felt they could target two specific exons within the STXBP2, exon 3 and exon 5 as these are the areas where the mutation lies.  If looking closer again they found anything that would indicate an hlh marker, we immediately head to Cincinnati Children's and start discussions about treatments and transplantation.  Which, I was reminded again tonight, is not without its own risks.  I'm sorry, and maybe I'm rambling, but why do I have to think about risks with my perfect little boy?  Why can't we just get excited about preschool and trains like every other four year old?

There was also an in between, we could just resequence STXBP2 for a closer look.  But really, in the end, the two exons are what our doctors say are the area of the problem and exactly what needs to be looked at to confirm or dispute the other findings.

In the end, we have to decide, the doctors do not feel there is one right path, we have to choose, just like we may have to weigh tough options in just a few months.  We have a recommendation from our physicians here, but still need to decide.  Of course all of these options are not covered by insurance, being genetic tests they are harder to get covered.

Right now we need to make some decisions.  Obviously the smaller the area to be coded and analyzed, the faster the turnaround time.  Holiday time is not the best for shipping samples, so while we want to have this started immediately, it looks like they will wait until his next infusion date.  In addition, our immunoligst is going to run the regular panel to see if Cole has had any exposures to chicken pox, mono, or any of the other viruses he may struggle with due to his nk cell dysfunction. If he has been exposed and has begun to build antibodies, we maybe looking at something completely different.

Like I said, all of this is information we have known, yet tonight, it is tearing my heart apart.  I'm not sure if it is just getting closer, if it is realizing no matter how normal we get to be for just a moment, Cole is still sick, or the mention of the difficult decisions ahead that got me tonight.  Maybe it was a combination.  I'm praying for a miracle. Praying somewhere, somehow, this is not right, that my little boy will not have to endure more than he already has, that the Crohns is the only cross he will have to bear.  Please help me with my Christmas wish.  Share his story, please help us get more prayers for answers and maybe even a miracle.

That is all I want this Christmas.  That and maybe a trip to med school so I can start searching for the answers myself and fix all of this for my beautiful boy.