Curveball

 So...as if this situation hasn't been confusing enough, it just got even more so.

It turns out that at least one other person in the known universe DOES have Mason's exact deletion of 14 genes. We were kind of hoping that if someone else had ever had it, it would give us some insight to how to treat Mason better.

BUT. Not exactly the scenario we were looking for has transpired. It turns out that this one other person (at least that we know of right now) is...you guessed it. 

ME. Myself. And I. 

That's right. His own mommy has it. The FISH blood work we had showed the least likely scenario of all--the one the geneticist said they totally did not expect at all. But of course if we've learned anything on this journey so far, it's to expect the unexpected. The geneticist expected the test to show that this deletion was brand new in Mason, in which case it was probably the reason for all his issues. Or, he expected it to show that Brian or I had all the genes Mason is missing, just possibly rearranged (called a balanced translocation - anyone can have translocations and not show symptoms or a syndrome of any type, but when they pass it on to a baby it can become a deletion). Well the test showed that I am missing the very same chunk of genes he is. ??? is all we can think. I always knew he was a mama's boy. But ... a little more of mama than is good for him I guess. But what does it all mean?

We have no idea. The geneticist's best guess is that, since I have the deletion and have no huge health issues like Mason, then another mutation somewhere (another un-tested-for-yet syndrome) is behind Mason's issues. Obviously this brings up a lot of questions we will have to talk through with the doctor before we have any idea what the next step is. For example, he's a boy...I'm not. Things may play out differently based on that fact with the very same deletion. But right now it basically means we are back to square one, trying to find what is actually causing all these problems. It may be a really long time until we have answers, if ever. Obviously if we have Micah tested and he has this deletion too and he is "generally okay" (although we know Micah has never been exactly the picture of health) then it means that probably this deletion causes SOME problems but by itself shouldn't cause the degree of problems Mason is having and they will need to test for other things as he has other symptoms growing up and a clearer "syndrome" emerges. (He hasn't had any genes for specific syndromes tested at all yet--he's only had a test looking for missing chunks of genes, which they found. But for example if they think he has a particular known syndrome instead, something known to be caused by a change on a certain gene, they can look at that gene. Right now they have no clue where to begin looking at the genes since his set of symptoms is so unique. But we do have some theories and ideas for them on where to start and will be talking to them more about this later in the week we hope.

In the meantime, the ball is rolling to seeing the light at the end of the NICU tunnel. Wednesday is the day scheduled for Mason's G-tube surgery, with Nissen wrap (see previous post for the why's and what's of this). It's scheduled for 10:30 am. Please pray with us that they are able to control his pain much better this time than after his malrotation surgery and that he doesn't have any withdrawal issues or more seizures and fevers in the recovery period (which will be longer and more painful than if he was getting the G-tube alone).

Today he had a repeat heart echo to be sure the final heart defect, a VSD, is gone (they have a hard time believing it would close up on its own in only 10 days but we have a big God so I don't doubt it!!). He also had a repeat kidney study today to make sure his swelling is gone that he had when he was born. He has a few other consults and tests to be done before he can go home ... a skeletal survey x-ray, developmental pediatrician, another MRI probably, etc. But if his recovery goes well that's the plan...to get us trained in all his home care needs and to go home!! He's still growing like a weed...check out the meat on his bones!! Last night he crossed the 12 pound mark! :)

 

It's Monday again...so here's what I've been trying to tell myself to get through another long week:

I gotta keep my eyes on Jesus
Through the weak days;
In a world where we really don't belong,
I've discovered if I keep my eyes on Jesus
Through the weak days,
Then even on the weak days
He'll make me strong.

- Steven Curtis Chapman