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.







Thursday, November 6, 2014

Monday

Just got word one of our doctors that needs to look at the genetic explanation/information from Cincinnati is out of town until Monday, so no news or plan until at least Monday.

Wednesday, November 5, 2014

Crossed

Still waiting for the update from our doctor.

When you're a parent waiting for news it is frustrating to be told you will hear in two days and be going on a week.  

I know it all takes time, and this situation is complex, but we have now spent years waiting.  In some ways, it is ok because it means for years, our precious boy has been getting through all of this one day at a time.  On the other hand, I am beyond ready for answers so we know if he can go to pre-k next year or not.  He is growing up and some things cannot be put on hold indefinitely.

Fingers crossed we get a call today or tomorrow.  Not that we will have answers, but we will know which tests we are facing.  At least if they decide before his infusion next week we can do all the blood draws then, which is a plus for sure!