G-Tube/Fundo Surgery Update

A little TV goes a long way during recovery...

We sure have been appreciating all the prayers coming our way ... Mason has had a kind of rough recovery, not so much from pain (they are giving him Fentanyl really often, every 1-3 hrs as needed), just because his intubation was so hard (they had to try 3 times and kind of traumatic on his throat/lungs to do that...so he is real swollen in there and has quite a case of stridor from it (sounds wheezy/barky/loud every time he breathes, kind of similar to croup). He's had 2 treatments for it but so far they haven't done much except prevent him from sleeping (they are adrenaline aerosol "vapo" treatments). He had a very hard time sleeping afterward the entire 24 hours, even when his pain was controlled the first night--they had to keep suctioning his vent because he had a really huge and unexpected amount of secretions/saliva down in it. Of course the constant suctioning drove him nuts. He didn't sleep hardly any from when he woke up from surgery Wednesday (around 2 pm) until after I left (around 2 pm Thursday) so I was really relieved to hear he zonked out after my mom got there and slept well most of the afternoon since. He has been wearing some kind of humidity helmet/hood for the stridor but they took it off this morning b/c he wasn't a fan. Pray his stridor gets better on its own (today so far is going MUCH better both pain-wise and stridor-wise)...and that he can slowly wean off the Fentanyl without a lot of pain or withdrawal. Also, pray LOTS of protection over his IV...it is looking like it might be giving out and if it does he has to get a new one for Fentanyl and fluids since he's not up to full feeds (just on a slow drip of Pedialyte through his G-tube, but that will change to formula this evening, Lord willing). He's already had some dirty diapers so that part is great :) But if his IV dies that will be bad because he is SUCH a hard stick and there won't be much of a way to sedate him for that if his IV gives out. Thank you for praying that it holds out as long as they need it!! :)

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

Pressing On...

Well, it's been a long time since an update...I keep trying to wait to update until I have actual new information, but right now it's still a waiting game everyday. Here is where things stand with Mason right now.

1. He was seizure free since the 12th of Oct. on his increased dose of Keppra, and no phenobarbital. Last night he had another seizure. He's had some slight seizure activity during the day today too. No med changes yet, unless the seizures continue. If that's the case, my preference will be to make a SLOW increase in his meds over the course of a few weeks so that hopefully the side effects will be less severe. (His main side effects so far seem to be insomnia in the daytime and increase in reflux/vomiting).

2. We have made a decision to go forward on the G-tube for now because he is so up and down on his ability to eat. We had hoped to be able to do a simpler procedure called PEG (basically just like ear tube surgery -where you're just sedated with gas and they poke the tube in and you're done, hardly any recovery to it other than maybe a little Tylenol.) But due to his intestinal malrotation and previous scar the surgeon says it's too risky - they might accidentally puncture his colon that way and can't take that chance. This means he'll have to have an open incision gastronomy put in, which is a much bigger deal and much more post op pain and therefore the need for narcotics. I was really disappointed about this since we're not sure how he'll handle more pain med withdrawal; I asked if they could do the On-Q style anesthesia (where they leave a novacaine pump in the incision to avoid the need for narcotics) but sadly they said this is supposedly only for adults and they don't offer it at our hospital. So I need to talk to anesthesia about which drug we should use. I did talk to the lady who did the mouse research on beta-arrestin2 knockout mice (see previous post). She said that morphine may be a better choice for him than Fentanyl, because at least in mice, they had less severe withdrawal from morphine than from Fentanyl and needed less of it for effectiveness, but it's hard to say what's going to happen with Mason. She offered to talk through it with his docs, and she wanted more details about the other genes missing to get a better picture of what was going on. Some of the genes he is missing are things for like glycolipid transport and if this affects the metabolism of certain substances, it could cause an underlying nervous system/neurological disorder hasn't been identified yet, which could have a lot of the same symptoms as withdrawal on the surface, but not actually BE withdrawal; or he could have both - a more severe withdrawal from certain drugs due to missing proteins, and/or also a brain disease that has symptoms very similar to drug withdrawal in general. Whatever the case, it's definitely confusing.

3. Another factor involved in the G-tube surgery is whether it will be JUST a g-tube surgery, or if it will include a procedure to help treat his reflux/vomiting issues. He had an upper GI barium swallow study today to determine if he's having reflux and how much, but we don't have the results yet. Basically, if the results show a significant amount of reflux or some structural problem that isn't going away, Mason will need what is called a Nissen wrap or fundoplication procedure, where they wrap part of his stomach around his throat to keep him from being physically able to throw up. If he clearly needs this, we'd rather do it now with his G-tube surgery than have to subject him to more surgery/pain meds later. But we need prayers for clear direction one way or the other as neither option sounds all that great to us. If he DOESN'T get the "fundo" surgery now, the surgeon is afraid his reflux will get worse from the G-tube, because they have to "tent up" his stomach for the G-tube, making the angle more likely for the stomach to reflux; ongoing reflux can damage his insides, make him hate eating, and cause issues with the g-tube. If he DOES get the wrap, it brings more possible complications - the size of his stomach will be reduced by about 50%, meaning he'll have to eat tiny meals all through the day, most likely, and for a while after the surgery, will need to be suctioned often because he may not be able to swallow his own saliva. Plus, it could make it hard for him to eat solids later if he is able to by mouth, and also, the sensation of having his stomach wrapped around his throat will be more distressing to him than the reflux he had before (according to his surgeon), since he's used to the feeling of reflux, so they really really don't want him to have it unless he really needs it. And we really really only want to have to do one surgery, not 2 ... so please pray for extremely clear direction on this decision, which I suppose we'll need to make tomorrow after the surgeon gives us his recommendation after seeing the upper GI results.

3. Mason's left eye had glaucoma when he was born - they have gotten that under control with eye drops, and now the drops have been stopped to see if it stays under control by itself. If not he will go back on the drops as needed.

4. Our parental FISH test results (the ones telling us whether this deletion in Mason was inherited, or a one-time random event) are still not back.

5. If we can get Mason through his surgery (hopefully next week), and we have a good plan for seizure control, hopefully within the next couple weeks we can start thinking about home!!

And since I need it, here is another song for today (No Matter What, by Kerrie Roberts):

http://www.youtube.com/watch_popup?v=OA3MSqufJP4&vq=medium#t=13

I Know God is In This!!

Yesterday I heard this song on the radio and it was so the cry of my heart right now, trying to figure out what is going on with Mason and his seizures and other symptoms that seem so inter-related with his meds/withdrawal stuff, and whether we need the G-tube or whether we need to wait it out and see if things get better on their own...a "REVELATION" is exactly what I feel like I stumbled upon through God's prompting tonight, (as you'll see below); please pray that the docs are really responsive to the information I want to discuss with them tomorrow as it sounds extremely relevant to Mason's case.

REVELATION 

My life has led me down the road that’s so uncertain
And now I am left alone and I am broken,
Trying to find my way...

I know that you are holding all the answers
I’m tired of losing hope and taking chances,
On roads that never seem,
To be the ones that bring me home
Give me a revelation,
Show me what to do
Cause I’ve been trying to find my way,
I haven’t got a clue
Tell me should I stay here,
Or do I need to move
Give me a revelation
I’ve got nothing without You
I’ve got nothing without You

I don’t know where I can turn
Tell me when will I learn
Won’t You show me where I need to go
Oh oh
Let me follow Your lead,
I know that it’s the only way that I can get back home

Give me a revelation,
Show me what to do
Cause I’ve been trying to find my way,
I haven’t got a clue...

                     --Third Day

Well I sure didn't have a clue and may not completely still on the G-tube question, but today, after looking up one of the genes Mason is missing, may have come across just that - a tiny clue to a piece of the Mason puzzle right now. I found out that one of his missing genes, ARRB2, is for a protein called Beta-Arrestin 2; the first time I looked it up in the medical lit I didn't find a lot of info about it or what it does, at least not that seemed completely relevant at the time, but for some I reason felt compelled to look it up again tonight. What I found this time was a host of articles about how mice who have had this gene deleted so they are deficient in Beta-Arrestin 2, REACT IN A COMPLETELY UNIQUE WAY TO OPOID DRUGS (IE, Fentanyl and phenobarbitol!) than other mice... their whole response of drug tolerance/withdrawal is fundamentally altered!!! They have an extremely LOW tolerance to these drugs yet still become physically dependent on them. You can read all about it in PubMed searching Beta-Arrestin 2 and opioids (if you are interested in medspeak) but here is the main info of interest to me, excerpted:

Beta-arrestins, a family of regulatory and scaffold proteins, are well-known negative regulators of G-protein-coupled receptors (GPCRs) including opioid receptors...We have previously reported that mice lacking the G protein-coupled receptor regulatory protein, beta-arrestin 2, display profoundly altered morphine responses. beta-Arrestin 2 knockout mice have enhanced and prolonged morphine analgesia with very little morphine tolerance. Here we show that in mice lacking beta-arrestin-2, desensitization of the mu-opioid receptor does not occur after chronic morphine treatment, and that these animals fail to develop antinociceptive tolerance.  However, the deletion of beta-arrestin-2 does not prevent the chronic morphine-induced up-regulation of adenylyl cyclase activity, a cellular marker of dependence, and the mutant mice still become physically dependent on the drug. 

(Jen's translation - the mice with the missing gene don't need much of the drug at all for it to give them a buzz/relief of pain--they are very sensitive to its effects). At the same time they still become addicted to the drug and if they don't get the drug they will have withdrawal.

Another article says, "inhibition of beta-arrestin 2 function might lead to .... potential new avenues for the study and treatment of pain, narcotic tolerance, and dependence."

Anyway the point is Mason doesn't have the gene either and this fact is probably playing a HUGE role in why he is having withdrawal symptoms that make absolutely no sense to the docs (since he was not on big enough doses of anything to cause these problems in other babies who do have Beta-Arrestin 2). The neurologist today acknowledged Mason was still having withdrawal symptoms from Fentanyl which he took 8 weeks ago, but could not explain why or if the seizures were from the withdrawal or not. Pray for me tomorrow as I talk with the neonatalogist about this, that they would realize the significance in his treatment (they are really pushing the phenobarbital but we do not want to do something that they are not going to be able to understand or manage its effect on him, if it is going to make him sicker or less himself or less able to feed due to its strong effects). Pray this info leads to really good things for his treatment and helps the docs get a better handle on what may be going on!! This is a teaching hospital, so pray they are eager to research and learn, to help Mason and potentially lots of other people!

EEG and We Need Your Prayers

Mason's seizures are a continuing mystery. After building up on phenobarbital, realizing the med was making feeding difficulties worse, and then weaning off it over 9 days, the seizures have gotten much worse and much more frequent. What's making things confusing is we don't know if these seizures are narcotic withdrawal symptoms in general (from being on Fentanyl and phenobarbitol - the symptoms of narcotic withdrawal include seizures, stuffy nose, temp issues, GI issues, sneezing, irritability, uncoordinated feeding/swallowing, tremors, etc - all of which he's had in the weaning phase - or if all his symptoms are due to his own underlying disorder. One thing that is pretty unique about his seizures is that his temp shoots up fast right before them - he gets very red in the face, and his temp rises over an entire degree to 99.5 or 100 within moments. So keeping him cool in the past had seemed to help prevent them, but right now we are unable to really prevent these temp spikes; even being on Tylenol or almost undressed does not always avert them. We need to know the origin of the seizures so we can know what to do for Mason on feeding, and what med to use, etc... if Mason's feeding issues are due to withdrawal they might get better soon, as might the seizures (his feeding initially improved going off phenobarbitol, so we were optimistic it was a large part of his eating problem, but then the other symptoms hit and more seizures and his eating has declined again dramatically). If not from withdrawal, and they are due to his own inability to eat because of hypotonia or other issues, we should probably get a G-tube and go home...but that would mean more surgery and probably Fentanyl (it's the drug he gets for pain relief post op) and thus more withdrawal and possible seizures. Also there is the possibility that his seizures are metabolic in nature (from a missing enzyme or vitamin deficiency due to deleted genes, etc) but there are so many possible tests to run that they don't even know where they would begin.

An overnight EEG to capture seizure activity is going on now. Already one seizure has been recorded on it tonight, and another one earlier today before the EEG started. These are scarier seizures than I have seen from him yet (from a mom's perspective), because they start out by his heart stopping (asystole/flatline). It is also a very, very rare thing with seizures in general. Please, please pray his brain is not being damaged from these episodes and that his heart won't continue to stop with the seizures, and that they can be controlled soon and that God would grant wisdom on what to do re: the G tube and seizure meds.

In light of all this, here's what my head and heart knows and I'm trying to keep in mind for tonight...

GOD IS GOD (AND I AM NOT...)

And the pain falls like a curtain
On the things I once called certain
And I have to say the words I fear the most
I just don’t know

And the questions without answers
Come and paralyze the dancer
So I stand here on the stage afraid to move
Afraid to fall, oh, but fall I must
On this truth that my life has been formed from the dust

God is God and I am not
I can only see a part of the picture He’s painting 

God is God and I am man
So I’ll never understand it all
For only God is God

And the sky begins to thunder
And I’m filled with awe and wonder
‘Til the only burning question that remains
Is who am I

Can I form a single mountain
Take the stars in hand and count them
Can I even take a breath without God giving it to me
He is first and last before all that has been
Beyond all that will pass

Oh, how great are the riches of His wisdom and knowledge
How unsearchable for to Him and through
Him and from Him are all things

So let us worship before the throne
Of the One who is worthy of worship alone
                     - Steven Curtis Chapman