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 ...
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...
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.
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 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...
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."