Change Is Good!

"When anxiety was great within me, your consolation brought me joy." Ps. 94:19

Mason has had a really good week! :) Granted, he and his mom had to get through some pretty stressful moments at doc appointments (including, if you haven't heard about them already), the Incident with the Frozen Wipes; the Great Big Feeding Tube Spill; and the worst of all, the episode involving "Mom, please never let my G-tube get stuck on the car seat when the nurse wants you to get me out to weigh me, because it bleeds and REALLY hurts and makes us both very miserable!!" But...we lived. And we have some good reports on top of it! Here they are, in random order:

Mason is growing like a WEED! At his weight check yesterday (2 days after turning 4 months old) he was 16 pounds, 5.6 oz!! This growth rate is in fact SO good that we got permission to back off his calories from his new GI doctor yesterday. Woo hoo! He is going to LOVE that, we hope! :) We are going back from 22-24 calories per oz down to 20 (the standard baby formula amount).This means we get to increase the water content, which we heard may also help with retching...Who knew!? We hope so! If not Pedialyte in between feeds could potentially help too. We'll see... regardless, slowing down the weight gain should help him not outgrow his seizure med dose so fast.

He also got to visit with family this week for an early Christmas celebration - and got to meet his brand new cousin for the first time! She is about 4 weeks younger than he is...but they sure both love the new glowing sea horse he got from her!! :) Here is is trying to hug them both at once :D

He also got some good reports from his latest doc visits:

1. His glaucoma is doing better - that is, he does not have high pressure in his eyes, even off the eye drops, and can stay off the drops. The opthamalogist has referred him to a cornea specialist in case he may be a candidate for a cornea transplant (he has a "corneal cloud" over one eye, blurring whatever vision he has over the colobomas, which affect his optic nerves, retinas and irises in both eyes). Even though he can't make eye contact or track consistently, he still does appear to be able to see SOMETHING, including light and fun patterns and moving objects like colorful slinkies...this is a huge PRAISE!

I love looking at these trains mommy!

2. The mild kidney problems he was born with (hydronephrosis/dilated renal pelvis) are all better :) He got to go off the antibiotics for that!

3. His ear infection is better so he is off antibiotics for that! And although he still has fluid in it which makes him prone to reinfection, he has a great new ENT who is on board with putting tubes in ASAP if he has an ongoing ear infection problem. Right now the ENT is scheduled to be present at an operation in the spring (probably to release his tethered spinal cord) if he can hold out that long. If not we can call and have it done sooner.


4. He is getting his Mic-KEY button (flat, skin-level G-tube), Lord willing, tomorrow. This should be a lot easier to care for (we hope) and to "get around" with (nothing long hanging out of his clothes to get caught on!)

The best news of all is, since he has been healthier, he has had ZERO seizures!! As of this writing (Dec. 22) his last one was Dec. 9. Usually I say that, and then he proceeds to have one, but I am still celebrating this amount of time seizure free! Thank You, God! This is so encouraging to us that maybe his seizures really are triggered/vagal related (by pain/stress/heat) and not just "random" as in epilepsy. This would be AWESOME, and as his vagus nerve matures as he grows, we pray it may be less "over-reactive."

He is also getting stronger. He likes to play the "pull up" game by holding onto someone's hands and pulling himself up to sitting. This takes a lot of work for his head control and he is doing really well there on forward extension. He is doing better tolerating tummy time too. We have also discovered that it is sucking that he has the most trouble with in oral eating (not so much swallowing) so we have moved to trying more dropper-style feeding where he can eat and swallow without sucking (which triggers the gagging). So far progress is slow but encouraging...he is taking between 5 and 15 mLs by mouth most days.

Another good change is my attitude toward Mason's "unknown" diagnosis. Though I sometimes struggle with this, I have learned that in many cases it's to a baby's advantage not to be labeled with any particular problem, particularly if it were to relate to any chromosomal abnormalities. Apparently many doctors hear this term and automatically take a "hands off" approach and prefer to withhold important treatment. If we had known in advance of his birth that Mason was sick, especially if it turns out to be anything with a "poor prognosis," the outcome to this point could've been far different when he was born (we may've been encouraged to not intervene with the life-saving surgeries he had, for example) but since they have no idea of his prognosis, they are willing to offer him every help there is available. Thank You God for this unexpected blessing and thank You for those 12 weeks in the NICU because it meant the docs were on his side and even the lack of diagnosis is a form of protection for him right now. Thank You for doctors who recognize this and are giving him every benefit of the doubt. (Please pray for my cousin Jessica who is fighting this very battle right now, as she was just told her unborn baby most likely has some form of Trisomy 13.)

We Love THE JEREMY PROJECT :)

When Mason was born, one thing I was most sad about was we were unable to get any newborn pics in the hospital. I had envisioned a special session soon after we got home...but then we didn't go home. And still didn't. And STILL didn't. Three months later we FINALLY did but we didn't really have a newborn anymore. But what a blessing to find out from Footprints (a Cardinal Glennon program that acts as a "voice for children with complex medical needs) that a wonderful group of photographers had dedicated their time and services to kiddos like Mason and their families. They would be able to come to our home and take pics of our family as a gift. Along with the prints sent to us by our photographer, Martha Lafata, was a note that said something like this: "The holder of this CD has the right to print or reproduce  these photos in any way the holder desires!" WOW. So without further ado we want to share these portraits she took of our sweetie pie, and the rest of us too. Thank you to THE JEREMY PROJECT, so much, for making this mommy's heart smile!! And thank you to Footprints for hooking us up!! :D

 

Go ahead...show some love to THE JEREMY PROJECT on Facebook and read up on the stories of other families and what they are dealing with. What a special ministry this organization has!!

Diary of a Wimpy Mom (with an all-powerful GOD!)

So. It has been WAY too long since an update as usual. It has been a hard hard hard few weeks since Thanksgiving week. I say hard because if any of you know anything about me, it's that I physically cannot deal very well with pain and stress... not my own or anyone else's either. Starting in 3rd grade I had my first "episodes" of passing out - it was while watching some guy's arm catch fire on video for a stop-drop-and-roll first aid class at school. (Leave it to Bri to say "Oh yum, pizza!" at the sight of the third-degree gore lol.) Anytime I was stung by a bee, or stood still for too long, or got a shot, or IVs, or sunburned, or whatever...if pain was involved, I was checking out for a while. Once the stress of repeated IVs was so bad I passed out and had a seizure too. Anyway...it is for that reason that I did not become a pediatric optometrist or any other medical professional (because it is not the actual site of blood that disturbs me - I can look at dead stuff all day, disect, whatever...but LIVING people experiencing pain that I can do nothing to stop?? NO WAY. FORGETTABOUT IT. You will be scraping me off the floor all day long. I have ZERO TOLERANCE for severely hurting people because it rocks everything I am so bad it literally makes me unconscious. Prolonged stress is torture...

All this to say, what a shock that the enemy of our faith (that roaring lion who walks around seeking who he can devour) has decided to go after me exactly where I am the weakest...where day in and day out I have had to watch this tiny person, my own son, who I love more than anyone can  possibly comprehend, hurting in ways I cannot even imagine, and being absolutely powerless to make him feel better. Please continue to pray for me, for physical and mental strength to be the mom I need to be for Mason and Micah, and to stand strong when I am exhausted on every level and do not want to give in to attitudes and fears and spiritual attacks that threaten to crush me sometimes.

In spite of it all, it is so obvious to me that you have been praying...just when we have felt the lowest, people have swooped in to lift us up in ways we cannot even comprehend! Our church family continues to blow us away with their generosity and love. People we've never even met have flooded us with cards. And packages. And encouragement beyond anything we couldn've imagined, and right when we need it most. The timing has been surreal, and we cannot thank you enough... it is so clear to us that God is right here with us, walking through this and showing us His unending love through His people!! I am so thankful He is...otherwise I could not have gotten through these last two weeks.

Thanksgiving week Mason got congested. BAD. He could hardly breathe. The cause of the "goop" could've been anything ... a virus (Micah had one). Allergies (he'd just started a new formula with higher milk content/probiotics). Reflux. (He started retching 2-3 times with every meal, before or after or when his stomach was totally empty, (and by retch I mean, his whole face goes beet red, and he dry heaves so loud the whole house can hear him and he chokes/gags/struggles to breathe through the afternath...we tried to suction him often to keep him clear, but that triggered more retching. It was heartwrenching is the only way I can describe it; the pediatrician gave us more reflux meds but of course that does not stop reflux, it only keeps it from burning. He had 3 seizures. He stopped breathing for one for over 25 seconds. He had another EEG which was "normal" and so they did not change or increase any meds. Sometimes it seemed like his tummy would empty way too fast and he'd scream in pain during a dirty diaper. Other times, it was like his tummy took too long to empty (especially during the continous feeds, which were only 50 mLs (just over an ounce) an hour. We still did not have insight from a GI doc who can't see us til Dec. 21. And he was still getting too hot, too fast. We wondered if he had some kind of mitochondrial issue going on due to his nervous system dysfuntcions and not being able to regulate things well.

So we tried everything we could think of. We read retching stories from other fundo parents online. We didn't find much hope for relief - many are still dealing. His surgeon just apologized, "There are no easy answers for this situation." While there are drugs for potentially helping retching, they have severe withdrawal potential too. Or they say, "do not use this drug if you have seizures." So we asked his dietician and surgeon if we could drop back his calories and speed with which he was eating. (He was getting 110 mLs (not quite 4 oz) in 30 minutes, then a continous drip at night, which he hated, and would grunt in constant discomfort as if begging, "TURN IT OFF" until we couldn't stand it and did -the audio is below);

So anyway, we went down to 95-100 mLs and let it run more over 45 minutes and stopped doing any continous feeding; now he eats every 3 hours, day and night, by feeding tube.) We asked to be switched to Neocate, an amino-acid-only formula to prevent any possibility of allergy. And we prayed that time would heal his throat so that he could swallow better and get over his retch reflex enough to eat without gagging. After about a week he indeed seemed to be slowing down the retching. We found a nifty gadget called the Nose-Frida that allows for less-invasive nasal suctioning (beats the bulb by a million!) and got us through some tough times. He could finally change positions without his eyes filling with tears and getting a case of the hiccups. And the nose/throat congestion began to ease. Yayyy!! If his throat his clear he doesn't retch as much, doesn't seize as much, doesn't stop breathing as much!

 Things started looking up. I was optimistic that maybe the docs had over-reacted on his seizure problem - that maybe he didn't need to be on anti-epileptic drugs after all (which themselves can contribute to more seizures and developmental delay and only should be used in cases of true epileptiform seizures). If he has the same deletion as me, and IF that deletion is contributing to his problem, it made me hope that maybe his seizures were vagal in nature (caused by misfiring of vagus nerve, due to pain (like reflux), stress, sickness/fever/heat/obstructed-breathing issues. Vagal seizures like I had do not benefit from anti-epileptic drugs - they benefit from avoiding the triggers. True EEG-proven seizures are not triggered. They just happen. Mason, because of his Dandy Walker variant, is automatically more prone to true seizures than the average Joe. But his seizures so far seem to be triggered by things, with the exception of the ones he had while withdrawing from drugs. I hope so because it is his only hope to get off the AEDs and have more chance for a normal development.

But avoiding triggers, even if it's just vagal seizures, mostly, will be no picnic. Avoid stress and sickness? We found out at Cardinal Glennon Wednesday that he has an ear infection. A bad one.

Between doc visits at the hospital, all geared up with the feeding pump "mobile stroller unit" in action.

He's had 3 seizures since yesterday since he's sick. Today he had a seizure while simply playing "slinky" with his vision therapist. He has surgeries looming - one for probable ear tubes (no way do we want to go through a year of suffering with non-response to antibiotics like his big brother did, and jeopardize his hearing when we already know his vision is severely compromised). He has also been referred to another specialist for a possible cornea transplant to try to salvage whatever vision he may have. He may need his tethered cord released (we'll find out next week when or if). This recipe is not a good one for someone in whom stress plays so big a role in his overall health. If you could see the level of pain and distress he has to go through just to have an eye exam (because of how photosensitive he is), it would make you cry. Not to mention the ordeal of IVs in a boy with microscopic veins. Please pray for us for direction in knowing what to do in each of these situations that have no clear answers. Please pray for his retching to improve. For the congestion to stay gone. For the ears to stay clear now that milk is not in the picture. For the seizures to be controlled much better and for him not to need more drugs. Pray for us all to stay healthy (we all have viruses now). For others in our family whose developing babies could be affected by a similar syndrome, whatever it is, if it is inherited somehow, and for guidance for the docs to figure out what it is, if so.

Pray for Mason's comfort. Pray that his stress and pain is minimal. That he is able to play and laugh and be able to thrive and grow into a fun-loving little boy. That this smile you see here which he manages to summon up even through the worst of his ordeals, will be something that will become second nature..that he will FEEL like smiling more!

Lord, may Mason's precious smile remind me that "our God is bigger than I am! Strongest of all! He is able to make the summer turn into fall! He controls all that happens...His power is plain to see, and I know I can trust Him, for with His power He cares for me!"

PS - I have to remember this even now. I just discovered Mason has a dirty diaper leak. Now normally this would just be one of those "yuck" mommy moments. But with Mason it is not just gross, it is dangerous. The poop completely soaked his dressing for his unhealed G-tube wound. PLEASE pray that the combo of being on antibiotics for ears, a triple antibiotic cream freshly applied and super careful cleaning of his site will be enough to prevent infection. His mommy is not taking this well...

Leaning Hard

The first week home has been so emotional...joy that's hard to explain from having our baby right here with us to love on anytime we want, fear and stress from the usual worries of being a parent all over again, that doubled a few times over, learning the extras of gtube care, dressing changes and pump feedings, oxygen tanks, heart and apnea monitors, etc etc, trying to navigate through the new world of back and forth to his doctors (specialists in opthamalogy, cardiology, neurology, neurosurgery, genetics, urology, surgery, GI (or not - nobody knows who exactly is in charge of helping us with his Gtube and diet changes, pediatrics, plus setting up early intervention programs for occupational and physical therapy for feeding issues and developmental issues, vision therapy, on it goes. It is a lot to swallow ... and a new challenge or adventure every night. Here are some first-week "initations" we've experienced so far:

Tuesday: after carefully mixing up 24 hours worth of the hospital dietician's formula recipe (30 oz of water to 18 scoops of powder to make it 24 calorie/oz instead of the usual 20), and storing it in labeled bottles so we knew he was getting the right amount at the right time, we got ready for our first night home together. It didn't take more than one occasion of forgetting to pinch the Gtube to remember it's a messy mistake. Then it was bedtime. We were amazed at how well Mason slept all through the night, never cried once! But he grunted quite a bit in his sleep, obviously gassy from the inability to burp. We tried venting his tube and that didn't help, but other than not sleeping much from that, the night went well - we thought. Then the next morning we realized that although the feeding pump said it had delivered all 350 mLs of formula (which it was supposed to do), there was at least 85 of that 350 STILL in the pump. So what did we do wrong?? Did we miscount and put too much in the overnight bottles? Or did the pump misread and just not give him all he was supposed to have?? We had no idea whether to try to give him the extra in case he was 3 oz behind or if it would be worse to overfeed or underfeed him?? The home health nurse who came the next day told us to let it slide for the day...if it happened again we would need to see about a pump replacement.

Wednesday: well the formula amount left over was correct this time. And we vented him using his "chimney" syringe all night, so he slept a lot more soundly, less gas. But to our horror when we woke up the next morning, the chimney had come untaped from his gtube, despite 20 minutes worth of "safeproofing" it, and it spilled formula and stomach contents all over the bed. Uggg... what next??

Thursday: We decided not to vent the Gtube tonight since we decided it wasn't worth crying over spilled milk all over again. We ordered some Farrell Valves which some other moms said were "magic wonders" to vent reliably...they cost a ridiculous amount for a month supply and none of our docs have heard of them to let us know if insurance will cover them, so if these work we'll just buy a few and reuse them I guess. Surprise of tonight? At midnight the food pump alarm goes off with an error message. Funny thing to find out in the middle of the night is, there's no manual. If we have a question we are to call the help line and wake someone up to help us at that hour. Um. Really? We opted to dig up the info online from the user manual. Just as we were getting that sorted out, the apnea monitor went off. At 85 decibals. I hope no one else in the neighborhood was trying to sleep. Thankfully, Mason hadn't had apnea. It was just another error message we had to figure out. "Lead loose." Ahh.  Of course.

Friday and Saturday same story...lots of gas, not much sleep.

Sunday we went to church and Mason had his first seizure since coming home, during the middle of the worship service. He'd gone about a week since the last one, in the hospital. We tried to do what the docs had told us - give him oxygen if he turns blue (he did but the oxygen tank got set up wrong so pretty much a big ugly FAIL there and thankfully it was less than 2 minutes or so and he came out ok on his own), call neurology and tell them so they can adjust his seizure med dose (we did, and now he is on MORE than the max allowed dose of Keppra for babies). Any more seizures means another trip to the neurologist and a new med added or total change of approach, meaning another wean. This I DREAD. Sunday night due to the increased Keppra Mason was fitful and insomnia boy all night, and groaned from feeling sick all over. His big brother woke up screaming after going to bed with an ear ache.

Monday we woke up and Micah had a full-blown cold, along with his ear ache. Mason was sick to his stomach from the Keppra increase, and kept trying to vomit but of course could not. We already had an appointment for Mason, to his first follow-up doc visit to meet his pediatrician. He told us Mason's ear had fluid in it too. Sigh. Looks like a week of sickness on horizon. I guess we'll be back to the ped. tomorrow to talk about Micah. Oh, how I love cold weather. :(

Really, I have no idea what tomorrow holds or how we will get through these long days and never ending doctor visits that don't seem to yield much helpful information, but I imagine it will involve a lot of surprises too. I just hope there are more of the happy ones -- like Mason smiling when I put him down on his tummy for the first time since surgery today, or playing with his musical toys all by himself in the video below :) I will just have to remember a poem my grandma sent me a long time ago by Octavius Winslow ...if ever I needed to "lean hard," it's now...

"Child of My Love! Lean hard! Let Me feel the
pressure of your care. I know your burden, child!
...For even as I laid it on, I said I shall be near, and
while she leans on Me, this burden shall be Mine,
not hers. So shall I keep My child within the circling
arms of My own love. Here lay it down! Do not
fear to impose it on a shoulder which upholds the
government of worlds! Yet closer come! You are
not near enough! ... You love Me! I know it.

Doubt not, then. But, loving me, lean hard!"

THERE'S NO PLACE LIKE HOME!! :D

Did somebody say I can go home soon? For REAL??

All dressed up for his big debut outside NICU room 1848, after living here basically his whole life...just shy of 12 weeks. HOORAY FOR HOME TIME!!!

Ready to ROLL!!

I love my big brother, my basket, and my OWN bed :)

Playtime isn't bad either! :)

It's been one amazing week...details will come in the next blog :) Thanks for all your prayers to get us this far!! God is so good :D

Getting closer to going home! :D

Look Mom, no more tape on my cheeks! Bye, bye, NG tube!! :D

So....the doctors are starting to use the "H" word, along with actual target days now! The plan is, if Mason continues to improve, they are shooting for Tues or Wed. to go HOME!! :D The level of excitement around our house is climbing...we just want it to be for real!!

His follow-up apptmts are mostly all set up, except for his pediatrician and genetics (that doctor doesn't want to see him for 6 mths so it'll be a while until we have a "next step" there).

Neurology said they don't want us to have emergency seizure meds at home but they DO want us to have oxygen to be delivered by cannula if he is blue (no matter how long he is blue). They are not sending us home w a pulse ox monitor, but with a heart and resp monitor to be worn at night because "the fact that his heart drops with seizures is worrisome." and the pulse ox is not very reliable - as we know it doesn't pick up well sometimes and the doc thinks it will keep us up all night with false alarms. (well, if you ask me, if a heart monitor is gonna alarm off every time he bradies....which is when his heart rate drops, which happens A LOT when he is sleeping and doesn't have anything to do with a seizure most times, well sheesh. No sleep that way either. Anyway we'll have to figure that out. I guess we can buy our own pulse ox if we need one and use that if it's more helpful (they aren't too expensive).

The doc is bumping up his feeds again today, not by amount, but going to 110 mls in only 30 minutes (instead of an hour) "because life will be a lot easier for all of us that way" ... according to the doc. I told him that might be too fast since Mason had trouble before surgery with only 90 ml in an hour, and now his stomach is half that size due to surgery...but he said "the stomach is highly stretchable, he should be fine if given a little time. consider Thanksgiving." Anyway...so PRAY for him please because all of them agreed he should move to 30 minutes. They said if he is having issues they will leave it at an hour but they want to at least try. Because if he can't do it in 30 minutes then there's no point in bottle feeding because that will happen over an even shorter period. If it goes well, he can start trying to eat from a bottle again tomorrow. We'll see if his throat has healed enough from the reflux and surgery to go for it. If not I may wait until after he gets his Mickey button (7 weeks from now) to try again, just so he doesn't associate eating with pain. Here will be the schedule at home if he can do it:

On a "chimney feed" to vent (burp) his food through the G-tube. Starting today he is off the chimney and can just vent for a few minutes in the middle of a feed if he needs it, just like a regular burp time.

9 am-9:30 eat

12 pm eat

3 pm eat

6 pm eat

9 pm start continuous feeds through 6 am

They are going to teach me how to draw up his meds before we go. Today the nurse is trying to get his hearing screen set up for this evening. He has to have a car seat test before home which the dr said he imagines he will pass "with flying colors". Also, they are setting up a cardio consult for after home and repeat echo because there was another finding on all his heart tests we haven't heard yet - some kind of "prominent ventricular muscle bundle" to follow, but the doc told his team "well it hasn't caused heart failure yet so I think it's probably not too significant." They just said it was a consistent finding with each of the tests and his PDA is still there a tiny but so we'll see. The opthamology resident is coming by to check his eye pressures to see if he can stay off the glaucoma meds or if he has to go back on.

That's the update for now, he's sleeping well and has had physical therapy this morning, much to his disdain.

 

 Thought for today:

"We stopped relying on ourselves and learned to rely only on God, who raises the dead. And he did rescue us from mortal danger, and he will rescue us again. We have placed our confidence in him, and he will continue to rescue us.  And you are helping us by praying for us. Then many people will give thanks because God has graciously answered so many prayers..."

2 Cor. 1:9-11 NLT

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

Two Good Signs! :)

Two things we know from this video:

Mason can suck like a champ (so it's not a lack of ability preventing him from eating we don't think, but maybe something like heartburn/silent reflux causing him pain and food aversion...we're working on getting to the bottom of this lack of desire to eat, and probably starting an antacid Monday).

Mason can also see - at least light and shadows, for sure. You can tell just in how he responds to his new musical glowing aquarium :D Looks like he might even be trying to track a little...

Thank You, Lord, for these encouraging signs!! :D

Mason's Story

Before He Was Born, God Knew...

 For you created my inmost being; you knit me together in my mother's womb. I praise you because I am fearfully and wonderfully made; your works are wonderful, I KNOW THAT full well. My frame was not hidden from you when I was made in the secret place. When I was woven together in the depths of the earth, your eyes saw my unformed body. All the days ordained for me were written in your book before one of them came to be. How precious to me are your thoughts, O God! How vast is the sum of them!  - Ps. 139:13-17

Finding out we were expecting baby #2 right around Christmas 2009 was an answer to a very specific prayer: because of previous health issues I'd had after my first son's delivery that made future pregnancies at higher risk for miscarriage, I had asked God that if it was His plan for us to have more kids of our own, that it would happen within 6 months of the prayer; if not, we'd wait a few years or pursue other options like adoption. But I also prayed that He would ONLY allow me to get pregnant if He'd protect us from miscarriage; I would rather not get pregnant at all, than have to go through that, especially more than once. So I prayed for strength to just trust Him that if I got pregnant, things would go smoothly and I wouldn't have to wonder if our baby would survive the pregnancy.

For five months nothing happened. It was only in the very last month of our "six month trial" that I got the two pink lines letting us know God had answered! We were so thrilled, and I can't explain the peace I had knowing that God would protect this baby as I carried him...of course we didn't know he was a "he" then, and in fact, if any one word could describe my pregnancy with Mason, it would be "obscure." I had no "gut feeling" one way or the other whether he was a boy or girl. Nothing about his ultrasounds was ever very clear because he was breech most of my pregnancy - it took several sessions to find out his gender. He didn't want to show his face either - he always hid his eyes and showed only part of his smile or covered his face with his hands, on the 4d sessions. We saw his chubby cheeks ...

 and hairline (yes, we knew he would have at least a little!) but never a really clear straight-on clear face picture.

They always had a hard time finding his heartbeat too, because he was hiding behind my placenta, and when they did it was always very slow - close to 100 bpm; they said this was perfectly normal, but just very "rare" - he was only the 2nd baby in 20 years my nurse had seen with such a low resting rate, and the other baby she'd seen like that was fine, just "very laid back." Also, we could not settle on a name...we liked the name Mason because it means "stone worker" and we wanted a name that reflected God's answer to our prayer - basically, a name that meant, every time we looked at our baby, it would remind us, like a living monument or biblical "stone of remembrance", of how God sculpted and protected him. But I agonized to find a full name that really seemed to "fit." When we finally chose "Josias" as his middle name ("God heals" - to remind us how God had allowed me to conceive in spite of health issues), it was well into the third trimester and I was afraid he would be born before we had made up our minds. Anyway, I always got the feeling we would be in for a big surprise when he was born but I wasn't sure what kind of surprise...would there be two babies, not just one? Would he turn out to be a girl instead? Something was going to blow us away about him, but I could never put my finger on what on earth it could be. I just knew there had to be something I didn't know that we were about to find out...

Mason's Birth

About week 37 of my pregnancy, the doc realized baby Mason was no longer head-down (he'd been head down only a little while, after about week 28; up to then he'd always been breech on ultrasound). He said it would be a bad idea to try for a normal delivery, and there wasn't enough amniotic fluid around him to try to manually turn him. When the doc was looking at Mason on the ultrasound, I asked him if it would be okay to try special exercises to get him to turn, like swimming or tilt exercises, or if that could hurt him in some way if there was a medical reason that he was breech (short cord, health problems, etc)..he assured me it would be fine and that Mason had no problems other than being "stuck" in that position. He said that he would need to be delivered by scheduled C-section if he didn't turn - he didn't want me to go into natural labor and need an emergency surgery. He also said he would be out of town for the delivery, so I'd need to plan for a different doc to do it. We waited, and Mason did not turn, except to a more transverse, side-lying (worse) position for delivery. So...the C-section was planned for 10 am, Aug. 19.

I was really disappointed to need the C-section but knew that God must have a reason for keeping Mason breech. And it was wonderful to have both sets of grandparents already in town for the occasion, with no rushing around and last-minute planning! So we headed to the hospital to meet our new son, very excited about the day ahead. Although it was not a fun experience due to endless pokes for IV placement and about 6 attempts on the spinal block (ouch!!) and trouble getting bleeding stopped after the surgery so I could get sewn up, I am so thankful God had the C-section and all the details in place. The first thing the doc said after he delivered Mason - the first surprise of the day, was something to the effect of, "Wow, what a REALLY short umbilical cord he has!" If he had been delivered naturally .. yikes. I was so thrilled to hear Mason let out his little first cries...more like little whimpers, and that did make me nervous when they didn't get any louder. I kept asking, is he okay? is he okay? They assured me he was fine and told me his good Apgar scores of 8 and 9 ... and then my next surprise was seeing him! All that hair!! So thick and curly and brown, not black, but it even had highlights! It was so amazing seeing him in person for the first time--all 7 lbs, 14 oz and 21 inches of him! - I just wanted to snuggle him!! But of course they had to check him out first...and that's when the other surprises started coming. "We've noticed some little things about your baby that we need to take him to the nursery to check out. His ears are a little low set and one of his eyes is a little cloudy, almost like a cataract." Hearing this made me concerned a little, but they didn't sound like big deal issues - still, the way they weren't saying much, I couldn't help wondering if there was something they weren't telling me.

My hubby followed Mason to the nursery, and the nurse went to get my mom now that the C-section was over. Mom said they told her as they walked back to see me, about the "concerns" they had about Mason, but added, "Jen doesn't know everything yet."

Nobody told us really much of anything at first, other than the small abnormalities Mason had could indicate some sort of syndrome underlying it, but nobody mentioned how severe or minor this syndrome might be, or had a name for it. I only started to get really scared when the nurses started coming up to me, hugging me, telling me how sorry they were, how they were praying for us, asking "Didn't you know any of this before now?" etc...all I could think, was, KNOW WHAT?? But no one offered any details about was going on. Finally one of the nurses let it slip that the docs had written a possible diagnosis of "Charge Syndrome" in his charts - a syndrome of multiple congenital anomalies that often had severe breathing symptoms. Then the neonatologist came in and told us Mason had developed some breathing difficulties, and needed to be put on a ventilator and transferred to Cardinal Glennon for further testing and stabilizing. The hardest part in all of this was not being able to even hold him yet...I was allowed to go the nursery once before the transfer team showed up, to visit and sit beside him, and my 3 year old got to meet him briefly. But then they brought him in his transport isolette to my room to kiss good-bye...that was probably one of the hardest days of my life.

Anyway, I was able to get an early discharge from the hospital 2 days later so I could go be with Mason downtown, about 45 minutes from our house. It was hard because my older son, "Biscuit," was used to being with mommy most of the time and now suddenly he was being juggled around with various family caregivers.
After that I dreamed that my 3 year old got on a looping roller coaster without buckling up and I couldn't stop him...this is a pretty accurate description of my emotions (and probably his too!) in those early days.

The first weeks at Cardinal Glennon Children's Hospital

The next few weeks were a blur. First Mason had lots of tests to determine exactly what defects he had. It was determined that Mason probably didn't have CHARGE syndrome because his nasal passages were not underdeveloped and obstructed as first suspected. But he had eye abnormalities called colobomas and the opthamologist couldn't give us much hope for Mason being able to see, after discovering that both his optic nerves were damaged. Mason also had a low resting heart rate (sometimes in the 60s-70s bpm) so they put him on caffeine (his morning Starbucks shot lol!). He did have a pressing issue with his GI tract - an intestinal malrotation and blockage. He had a successful surgery for that when he was 2 days old, and it included an appendectomy.

He had ultrasounds and MRIs that revealed kidney swelling on one side, 3 heart defects (PDA, ASD, VSD), a spine malformation called Tethered Cord syndrome which will likely need surgery later, a brain malformation called Dandy-Walker variant, hypotonia (low muscle tone), and he took shallow breaths sometimes that caused carbon dioxide to build up in his lungs - so he was on cannula oxygen for a while, and then a CPAP machine to help him improve the effectiveness of his breathing. 

Eventually he was able to go off the oxygen altogether, and he was so much more content after that! Then some other issues cropped up...first, he couldn't eat for about 4 days after the surgery to give his intestines time to function normally again. During that time, he was on TPN (nutrition by IV) and there was talk of placing a PICC line or broviac for extra calories, but because of difficulty finding his veins, they opted to let him try to eat when he was about 6 days old. I pumped milk for him and they added formula to bump up the calories. He sometimes ate from an NG tube in his nose, but was given a chance to try to suck his own bottles first. At one point he ate 8 feedings of 70 ml in a row, but he wouldn't gain weight...for about 3 weeks he stayed under his birth weight, right around 7.7 pounds. I was afraid he was going to be labeled "failure to thrive" for not growing after so long. Finally we went to formula only and added rice cereal thickener to help him swallow and add extra calories. Then he really took off on weight. In one day he gained 6 oz!! But about the time he took off in weight, he really went downhill with bottle feeding. They started talking about the need to put in a "G-button" if he couldn't suck his own bottles.

He also started having seizures the first week in the hospital, and was put on phenobarbitol, then Bumex, then Keppra was added when nothing seemed to be helping get them under control. EEGs did not really capture much seizure activity so the docs didn't know a lot about what meds to try...at 5 weeks after his birth this is where we are - trying to figure out the seizures and trying to help him eat by himself - we suspect that maybe his appetite and coordination skills are not great with all the meds, especially Keppra. Neurology is supposed to let us know if we can drop it or substitute it soon, since it's not helping much anyway...

"Diagnosis" Day
 The first month in the hospital was a waiting game - genetics tests had been sent out but would take quite a while to get back. In the meantime docs threw out several syndrome names they were trying to rule out. After CHARGE, it was Smith-Lemli-Opitz and Simpson-Golabi-Behmel. We wondered about Rubenstein-Taybi Syndrome because of all his hair. But nothing really fit him completely. Then came the basic chromosome test to tell us if his karyotype (if the number of his chromosomes) was the normal 46. It was - 46, XY, which we were thrilled to hear! The microarray, a more detailed analysis of the genes on each chromosome, took the longest. Even after the results came back we had to wait until the geneticist researched the results to be able to tell us what they meant. At about 3:20 pm on Sept. 21, a month and 2 days after he was born, the geneticist sat us down and told us what Mason had... a deletion of 14 genes at chromosome 17p13.2. There is a syndrome near this area of genes, at 17p13.3, that has been reported, called Miller-Dieker Syndrome, and although it is the closest known syndrome to what he has, it is NOT what Mason has; and it's a good thing, because it's almost always fatal. In fact, no syndrome on the specific set of genes Mason was missing has ever been described before, to our doctor's knowledge. Mason is the very first case, - a unique "Mason Syndrome" they haven't named yet...they don't even know what the genes are for that he is missing. So they don't have a prognosis to give us...only to take each symptom a day at a time and try to deal with each issue as it arises. Every day will be about the unknown, because we are in new genetic territory. Brian and I will have more testing to see what our chances are of passing on this condition to another baby, or if it was just "random." Well we don't believe in chance strictly speaking - nothing passes God's radar screen "undetected" - He made Mason the way he is...and no matter what the doctors cannot tell us, we are not going to dwell on the unknown...

So here is what we know right now:

• God answered our prayer and protected baby Mason through pregnancy for a reason - to us it is a miracle he was not miscarried since so many other babies with similar problems do not make it even to birth. No wonder there are no other babies with his condition! God really had his hand on him to show us He was already at work!
• God has a plan here and a purpose beyond what we can see, and He will get the glory through it all
• Mason's name means a "LIVING monument to God's faithfulness" and "God heals"...we know these meanings aren't... meaningless! :D We believe he will live up to them in every way :D 
• God has already answered more prayers for his improvement...two of Mason's three heart defects (the PDA and ASD) were no longer evident on the repeat heart echo last week! So, hopefully he will not need heart surgery! His kidneys have also been tested and he does not have reflux of urine so the swelling should go down on its own. And he has grown to 8 lbs, 9 oz!!
• The doctors may think he can't see much, but he can respond to light and focus on colored toys and even grab for them so we are optimistic he can see more than they think!
• God is with us to give us peace and everything else we need for each new day, "our refuge and strength, a very present help in trouble." He is in control and we can trust Him. 
• The journey ahead of us may be long without a lot of answers... but "though down here we may not understand, we won't let go of the Unseen Hand...for it holds the reasons why."

This blog is a celebration of what God has done and is doing through Mason Josias, and is a reminder to us of the places He's brought us along the way. Thank you for coming along for the ride!