Our Miracle Baby!

Well, we have finally arrived at the end of a loooong road. We made the trip to Madison yesterday to see Dr. Pauli. Two things were immediately obvious to me: first, the city of Madison must have physically moved further away from Green Bay since I last went there, because it took waaaaaay longer to get there this time. (Although a screaming baby might have something to do with this. Apparently 6 hours in a car is not a popular activity with the 4 week old crowd). Second, the children's hospital is AMAZING! Seriously, I wanted to stay and play in the waiting room myself because the toys were so cool and there were bright happy pictures and everyone there was so nice and accommodating to our every need. Why aren't hospitals for adults that fantastic??! But anyway, I digress!

Matt and I were both really impressed with Dr. Pauli. The first thing he did was explain exactly what was going to happen during the appointment and ask if we had any questions. Throughout everything, he told us what he was doing and why, and encouraged us to come closer and watch and made sure we knew exactly what was going on. He looked at all of Owen's x-rays first and examined the shape and size of the bones, which all looked completely normal. Then he did a physical examination of Owen, checking his overall appearance, range of motion, resistance, and generally used lots of fancy medical terms that sounded interesting, but I had no idea what he was really talking about. Last, he did limb measurements of Matt and I, and this is where things got interesting. Apparently a person's arm span and legs should be a similar length, but lo and behold, Matt is not actually proportionate himself - he has really long arms, and short legs. So his gene contribution is partially responsible for Owen's odd measurements. Of course, I can't look at Matt now without staring him down and wondering how on earth I never noticed his freakishly long arms!! How did this slip by us all?? Had we noticed this months ago, it could have spared us a lot of worry and heartache!

So while genetics play a role in Owen's odd growth measurements, Dr. Pauli also explained that when doing limb measurements prenatally, the bones are measured in millimeters, which leaves a very very small margin of error. If the measurement is even slightly off, it can move a measurement from the 3rd percentile to the 40th - which is pretty significant.

After looking over everything, Owen is really, truly, officially declared....completely healthy!!!!!! I've never heard better news in my life, and couldn't stop smiling (after I finished crying....). One of the genetic counselors sat in on our appointment and was taking notes the whole time, and at the end of the appointment, Dr. Pauli asked if she had everything she needed. She said, "What do I put for a diagnosis?" There was a team of doctors in the room, and everyone was silent for a minute until Matt suggested, "Short parents??!" They laughed, because that's pretty much it. I think Owen's official diagnosis is, "Familial history of short stature."

Before we left, Matt asked if bone dysplasias are commonly misdiagnosed in babies. We were told that it is actually very rare - if a baby's limbs are measuring behind even prenatally, they almost always born with some form of dysplasia. (So there's those one-in-a-million odds working for us again!) Although Owen's growth was somewhat unusual, he was also monitored much more carefully and frequently that most babies, simply because I am diabetic. So it's hard to tell exactly what had the most impact on his strange growth charts: genetics, technology, or something else. A lot of people ask if we are angry with the perinatologist for causing so much concern, but honestly, I don't think he did anything wrong. The only thing that bothers us a little bit is how certain he was with this diagnosis - we weren't given the slightest bit of hope that everything would be ok until the very end of the pregnancy, when Owen had grown quite a bit.
Looking back, it's hard to believe we actually survived the past few months. Not only did we deal with a diabetic pregnancy during which we believed our child would be born with a disability, but Matt's mom had a stroke, our roof was leaking and needed to be replaced, a snowstorm knocked out our power lines, I'm finishing my master's program....it has been absolutely insane!!!! But somehow we made it through, and miraculously, we are all doing ok. And of course, as proof (and because I am a proud mama), here are some more pictures of our fabulous little guy:



At the risk of making this story so incredibly long that no one actually finishes reading it, I have one last thing I have to say!! (And it really shouldn't have been left for last). I need to say thank you to everyone who has supported us over the past few months. Whether it was a card, phone call, email, delivered meal, or prayers, it was so wonderful to know how many people were thinking of us and cared about us. Thank you, thank you, thank you. We are a truly blessed family.

There's no place like home....

We made it home yesterday and survived our first night....although just barely! As we were packing to come home yesterday, we got to take so much from the hospital - bottles, clothes, the bath mat, etc. Yet somehow when we got here, I suddenly realized we did NOT get to take home one of those wonderful nurses. Which to tell the truth, really sucks.

Apparently last night was New Parent Initiation. Matt and I thought we were doing so well, changing Owen's diaper and getting him all ready for bed. Matt's been the diaper guru the past few days and has had no problems, until Owen decided to pee on him last night. Matt didn't immediately figure out what was going on, so he ran from the changing table in bewilderment, nearly tripping over a footstool, yelling loudly, and letting poor Owen pee all over his face....and the floor....and the changing pad....etc. etc. I cleaned things up, and then asked Matt to take the cover off the changing pad so I could clean up the baby, and he whips the whole pad off, leaving me a bare table. He looked a little confused, but was really trying hard to help! We were laughing so hard by now I was crying, and we were trying to dress Owen, who is screaming bloody murder and not finding our comedy routine nearly as funny as we did. I had almost gotten his clean onsie on, when Matt tried to help by taking it OFF, thinking it was the dirty one.....ok, maybe you just had to be there, but it was hilarious to see how very incompetent we are. The stitches from my c-section were killing me by the time I was done laughing.
Anyway, what you probably really WANT to know is an update on Owen's skeletal dysplasia. After such a difficult pregnancy, we got nothing but good news this week. The neonatologist was in the room when Owen was delivered, and he looked him over really carefully, as did our pediatrician later that day. Both of them agreed that if they didn't know the history, they wouldn't have any reason to think there was anything wrong with Owen. They took x-rays as well, because apparently the ends of long bones look different in kids with skeletal dysplasias, and everything looked very normal there too. I am just so stunned to learn about all this. After months of being told, "Yes, this is definitely what this is," to be told otherwise is just amazing. I know that so often babies are misdiagnosed prenatally, but after seeing Owen's growth charts, even I had a hard time thinking positive.
I guess I don't really understand how there can be such a huge discrepancy between the ultrasounds and reality, and the doctors don't seem to have a very good explanation either. At this point though, I'm not interested in figuring out why this all happened, I'm just thrilled to have a healthy baby. We still have an appointment in Madison on March 24; I just want the peace of mind of having a specialist look him over and give a final decision, and maybe explain why Owen would have had such unusual growth patterns. For now though, Matt and I are very happy that all we have to worry about is getting peed on!
Of course, I have to show more pictures of our adorable little guy. Here are some of my favorites:He already loves to suck on his hands and is working on finding his thumb. No nuks for this guy!

Having his first bath at the hospital. What a cute little butt!!

Owen is here!!! He arrived at 7:34 this morning at 6 lbs 6 oz. Just like his dad! His length is 19 in which is perfect. The neonatologist and the pediatrician said that he has no signs of skeletal dysplasia. He has brown eyes, I think but I was surprised that he opened his eyes only a few minutes after he was born. The C-section was not as bad as we thought but will take some recovery time. Mom and baby are relaxing right now, trying to avoid the bad cable TV at the hospital. Feast your eyes on the cutest baby in the world. No really, we knew he would be cute, but not this cute.

Just for fun...

...I thought I'd add some incriminating pictures. During our lamaze class, Matt had the pleasure of trying on what they call the "empathy belly." I think the actual purpose was to make the men in the class realize how awkward and crappy their wives feel, but I think most of the men were just secretly thrilled to have their own set of boobs for a little while!! So here's Matt and his lovely new body (notice the big grin!), and the two of us comparing our bellies:

It is a little shocking to realize that this picture is only about three weeks old, and I think my belly is about three times bigger now than it was then! Sigh. Someday I will carry this watermelon on the outside instead!!!

One in a million....

So Matt and I got more news this week that I just have to laugh at, because it seems the odds are just stacked against us. Here is my current life situation in statistics:

Odds of developing type 1 diabetes: 1 in 600
Odds of having a child with skeletal dysplasia: 1 in 10,000
Odds of having a breech baby: 3 out of 100

Yup, Owen decided to do somersaults and now is stuck in a nice, tight cannonball position. Because I am 36 weeks now, we were given two choices: attempt an external version, in which the doctor forces the baby to turn, or schedule a c-section. Everyone I talked to who had tried a version said it was extremely unpleasant; I believe the word "excruciating" was even used! The success rate of a version is apparently not that high, and even if it works, there is still a chance the baby will turn again on it's own. So after debating back and forth for a few days, I finally decided to just go for the c-section. I figure if I am going to have to be scared and uncomfortable, I might as well have a baby when it's over!!

So while the idea of a c-section is really not all that appealing to me, it's set and scheduled for February 19. Only two weeks left!! It's both exciting and terrifying, depending on my mood! Although at this point, I am SO ready to be done being pregnant, obsessing over blood sugars, and living at the doctor's office. I am currently doing non-stress tests twice a week - apparently, the placenta is more likely to deteriorate early in diabetics, so Owen is monitored closely to make sure he is doing ok. This is in addition to seeing my OB, endocrinologist, and the perinatologist. It is ridiculous how many times I have to pee in a cup every week!!! Arugh! Did I mention I am also finishing up my masters program this year? Yes, this has most definitely been an easy, relaxing pregnancy!!

So you can see why Matt and I just had to laugh when we found out Owen is breech. Of course he is. That is just our luck! At least I can remind Matt how fortunate he is to have Owen and me - we are truly one in a million!

PS -- My lovely, mathematically inclined husband just read this and pointed out that more accurately, we are one in 200 million. I'll take it. I know I'm awesome. =)

A wonderful birthday gift!

Today is Matt's birthday, and he got the best gift possible - some fantastic news about Owen! We had another ultrasound, and we were both pretty nervous going into it. We hadn't even made any real birthday plans for the evening, because every other time we've had an ultrasound, we've left upset and not wanting to see anyone. Tonight, however, we are both feeling a little giddy and ready to celebrate!

Each time we've gone in, the doctor measures all of Owen's bones and plots their growth. It was obvious from early on that Owen's bone measurements were significantly small - like, not even on the charts small. At our last visit, that was even more obvious, because there was very little growth at all. Although the doctor didn't say anything at the time, he shared with us today that he was concerned his growth was going to plateau - which would cause significant health problems, because his chest cavity wouldn't be big enough for his organs, specifically his heart and lungs, to grow properly.

Today, however, it was clear that Owen has had a bit of a growth spurt!! Although his limbs are still measuring three weeks behind where they should be, he is actually ON the chart with some of his measurements! Now, granted, it's the very bottom of the chart, or sometimes just barely approaching it, but still! We'll take it. Even more encouraging, Dr. Jazyari used the word "if." As in, "IF he has skeletal dysplasia, it will be very mild." He also made an offhand comment that maybe Owen will only be 5'7". Matt and I just stared at each other in amazement, because we couldn't believe what we were hearing. 5'7" is a good two feet taller than we were preparing for.

I asked over and over (and several different people) if I was understanding correctly, because I am so afraid of getting my hopes up, and not being prepared for reality. But I have been reassured that Owen looks very, very healthy, although he will be short. We just don't know yet if he is short because of achondroplasia, or short because he is a SaborHeuvel and comes from short families.

We also met with a neonatologist today, and he was very encouraging as well. As of now, there doesn't seem to be any glaring reason why Owen would need to be in the NICU, but someone will be in the delivery room to evaluate him right away and make sure he's doing well. He took us for a tour of the NICU and brought us to see a baby that was born 6 weeks premature, at about 5 pounds - the same age and size Owen is right now. I just stared, because he was this tiny little PERSON! I just can't believe something like that is actually growing inside me right now. Typically I imagine Owen as being orange and transparent, much like a weird looking shrimp. It was kind of a relief to see how cute this little baby was.

So....again, I am long winded. I just can't express how relieved we are, and how excited we are for him to finally be here!!

Good Things Come in Small Packages

Our little guy is not even here yet, but already he has quite a story to tell. I thought this might be a good place to share our experiences and keep friends and family up to date on all that is going on.

So...where to begin??

I guess I should say that Owen's birth was planned long in advance. I have been a type 1 diabetic for sixteen years, so having a baby required super tight blood sugar control even before conception. Matt and I worked hard to get my blood sugars where they needed to be, and were thrilled when we found out our little guy was on the way! From early on, I had a lot of concerns about this pregnancy, but all were diabetes-related: birth defects, heart problems, and other scary stories are easy to find. Luckily, I have an excellent health-care team, and although I felt like I was constantly at the doctor, things were going well.

When I was 18 weeks, we went in for our first ultrasound. This was done at the hospital with a perinatologist (basically a high-risk OB) and a 3-D ultrasound, so we got to see very detailed pictures of the baby! I was a little nervous, hoping that Baby Sabor would be nice and healthy, but my doctors had assured me that my blood sugars were great and I had nothing to worry about. Mostly we were excited to find out the baby's gender! The doctor saw right away we were expecting a little boy, and he looked very healthy. He briefly mentioned that the arms were measuring a little short and the word "dwarf" was used, but honestly, I thought that he was being a bit of an alarmist and because he really didn't say too much, I didn't think much about it.

Because of the diabetes, we had another ultrasound at 25 weeks to do a fetal echocardiogram and make sure that there were no heart problems. Again, everything looked very healthy and normal - except for his limb measurements. All the bones in his arms and legs were measuring about 3-4 weeks behind what they should be, indicating a form of skeletal dysplasia. Of course, I had no idea what that meant! The sympathy we got from the doctor and nurses was my biggest clue that this was not typical, and not good news. Matt and I asked lots and lots of questions, although by the time we got home I couldn't remember the answers to most of them. All we knew was that our baby was going to be a dwarf, and it sounded like there were many potential health problems associated with this.

The next few days were awful. I wanted to know as much as possible about skeletal dysplasias, but the internet can be a pretty scary place, and Matt soon banned me from more research (rightfully so!!). We waited for a genetic counselor from the hospital to contact us to set up a meeting time and hopefully answer a lot of our questions, and although we only waited a day or two, it seemed endless. All I could think was that there was something wrong with our baby and I didn't fully understand what it was.

Finally we met with the genetic counselor. She explained that skeletal dysplasia is basically abnormal bone growth, and that there are over 300 different forms. The doctor was leaning towards a form called achondroplasia, simply because it is the most common form. She assured us that my diabetes had nothing to do with this; it is typically caused by a random genetic mutation. In fact, it is unlikely that other children of ours will have the same diagnosis, although we will need genetic testing to verify this for sure. We had the option of having an amniocentisis done to try and determine which form Owen has, but because they could only test for 3 or 4 of the most common kinds, the tests could come back negative, but Owen could simply have a different form they hadn't tested for. It was an easy decision for Matt and I to make - it didn't sound like this would give us the answers we were looking for anyway.

Three weeks later we were back for yet another ultrasound, this time to monitor Owen's own rate of growth, which we now knew would be different than that of other babies, and to screen for other "markers" that might indicate what kind of skeletal dysplasia he could have. I was so amazed by what could be seen on the 3-D ultrasound!! The doctor zoomed in on his little hands and feet to make sure all the bones were there and formed properly; he checked his spine, the calcification of his skull, even counted his ribs! (And I must say, all this made me realize how incredibly lacking I am in the whole human-anatomy area; the doctor would name the bones he was measuring, and Matt and I would sit and guess what body part he was referring to. I'm pretty sure our ignorance annoyed him! At one point, he was counting the ribs, and I was trying to figure our how many ribs a person is supposed to have. For some reason, I settled on seven, so I was pretty panicked when the doctor calmly hit 9,10,11.....I quickly realized there was nothing wrong, I am just dumb!! Ha!) We met with the genetic counselor immediately after the ultrasound to go over all the measurements and results. She helped us realize that we really had received the best news possible; although Owen's limbs were obviously still small, everything else looked very, very healthy. No fluid on the brain, no club feet, no bone fractures, no irregular chest measurements that could limit his breathing and thus give him a fatal diagnosis. Honestly, although this was all a relief, it was a little scary at the same time, just to realize all the potential problems I didn't even know I should worry about (ok, that's probably a very good thing....!) Basically, they can start narrowing down the type of dysplasia based on the markers he doesn't have, and at this point, all of the scariest-sounding ones (at least to me!) have been ruled out.

So basically at this point....we wait. There's not much more we can do until this little guy is born. We have another ultrasound January 18, and we will meet with a neonatologist at that point to discuss Owen's delivery. Apparently there are very few clinics in the country that specialize in skeletal dysplasias, but one is located in Madison. Everything I've read speaks very highly of Dr. Pauli, and he is at the clinic in Madison. Our genetic counselor has already been talking with the doctors there and working to set up an appointment for us as soon as Owen is born, either to help make a diagnosis, or to support one that has already been made. It makes me feel a little more at ease knowing that there is such great support so nearby.

So Owen's birth is still two months out, but he has already caused quite a stir! I do realize that our diagnosis could be much worse, and that people go through much more difficult situations. Ours will just take some getting used to. I am grateful that Matt and I both come from teaching backgrounds, so working with special needs kids and making adaptations is nothing new. My school houses severe needs students, and I know when the time comes, my coworkers will be a wealth of knowledge in terms of early childhood programs, OT/PT services, and anything else we might have questions about. Still, it's hard to know that Owen's not even born yet, and he already has obstacles he will have to deal with for the rest of his life. As a parent, that's a hard thing to accept. Luckily, I am married to the most amazing guy ever!! Matt has been so accepting of everything, and is so incredibly excited to have this baby that it is impossible to get too upset for too long. He's like a little kid waiting for Christmas. Of course, being a scientist, he also likes to point out that height has nothing to do with Owen's ability to win a Nobel, which is all he wants for him anyway (No pressure there, Owen!).

I realize this is the world's longest update, so if you've stuck it out this far, thank you for your interest and support! I will be sure to keep everyone posted on future developments!