Raye of Light
You could say that life has thrown us some curve balls over the last year. And while from the outside, through photos on cell phone screens and social media apps, it may appear that life has been fairly uneventful for us, it has in fact been anything but.
I started this blog with intention of regularly adding interesting, even humorous content. I was excited to have a place to put all my musings on the wine and spirit industry, while sprinkling in a fair amount of family stuff. So where have I been, you ask?
Well…over the last nine months or so, it has taken all of my energy just to keep up with all the information being thrown my way. Much less reflect on it. And writing about anything other that what was happening just didn’t seem important or significant enough. Everything else seemed…pointless.
And now, the fog has not quite lifted, but somehow I’ve found a way to stick my head far enough above to the clouds to find some mental quiet. Enough at least to organize some thoughts and reflect before the next chapter begins.
As most of you know, on November 23, we had our 3% baby girl, Raye. What some of you might not know is that things didn’t quite unfold the way we expected them to during the pregnancy. It was quite a journey, bringing this little one here.
Let me start by saying that we are immeasurably in love, in gratitude and over the moon happy. And after already spending more time in a hospital with an infant than I would ever wish on anyone, Andrew and I know how blessed we truly are.
Raye DeProto LaRochelle came into this world a screaming, 7 pound 5 ounce love bug. As her name implies, she is a bright ray of light in our lives. In the first early moments, we took extra care to examine all of her bits and pieces in the dim late night lighting of the hospital room. Everyone was in agreement that she is one cute kid. And upon first glance, you would think a perfectly average, healthy baby, if not for a few differing features.
We were so happy to bring her home to meet her big sister, Sawyer. But as fate and the evil god of toddler germs would have it, Sawyer had caught a horrible respiratory virus. It was the most sick she had EVER been. So of course our homecoming was a recipe for disaster by bringing in a newborn without a fully functioning immune system. RSV hit the LaRochelle house HARD.
Nothing gives you a full dose of perspective on life like watching a twelve day old infant get a spinal tap or get hooked up to an IV. At once I was both devastated and feeling like a complete failure as parent. But we were also beyond fortunate for our access to modern medicine. It was in those 36 hours in the children’s hospital, holding her little hands, comforting her through the worst parts of her coughing fits and mostly, just watching her sleep, that I realized that our family journey was going to be different than I had originally thought. It was there that I felt more love and compassion than I have ever felt before and realized that we were so so lucky to have this baby.
One crisis squarely in our rear view mirror, we have now settled into our new family routine. And we also continue to await the results of tests that were planned months before her birth.
In the coming months, we will be hearing back from a geneticist that will be relaying information about a possible condition that Raye may have. At this point, we can only hypothesize. I opted out of an invasive amniocentesis in my third trimester, because at that point it wouldn’t have changed anything except providing us answers a little sooner than later.
To catch you up to speed as briefly as I can, the last time I posted about our pregnancy I shared the struggles we faced and the long odds of even having another child and the joy we felt to have suddenly have the odds work in our favor. Soon after that, however, we learned it was not going to be any ordinary pregnancy. It started early on with some pretty debilitating first trimester side effects.
By the time we got to the 20th week ultrasound appointment, I was ecstatic that I would finally be able to focus on something other than nausea and exhaustion. We couldn’t wait to see the baby and find out the gender- something we had not done the first time around with Sawyer. Because of my “advanced maternal age” of 36, (which is a hilarious term they use for women over 35) the OBs setup a much more detailed and comprehensive ultrasound evaluation.
And there she was, cute as a button and squirming around so much that the tech had a hard time getting readings and measurements. But also in that ultrasound we saw the first sign of something amiss. Excess fluid on the brain. Something you never want to hear a doctor say because of all the negative implications. From then on it was a series of up and down moments with different results. At one moment we were told everything looks fine. And the next, hmm…..maybe we spoke too soon. At three quarters the way through my pregnancy I had sat through a Fetal MRI and more ultrasounds than I ever thought possible. Not that I minded getting to see her over and over again, it was just very unsettling not to know what was going on from one minute to the next.
I am a firm believer that nothing is truer than a mother’s intuition. Nothing. And it was through this intuition that I had a sense that something required further investigation. I even caught things before the doctors. Right at the beginning of my third trimester scan, the doctor was measuring Raye’s different body parts and mentioned there were a few things that were a little smaller than they should be.
“Like little person small or just small person small?” I asked the doctor.
No, no, no. She assured me. Just small.
But there was something off about that scan. And suddenly at my next appointment, there it was. The more obvious truth. Raye’s head and torso were growing at an above average rate- at about 97 percentile- right on the line of what can be considered normal, but her arms and legs were weeks behind in growth- at about 2 percentile.
I’ll never forget the doctors face when she made the connection too.
“Hmm. So I think you were right. Right now it appears that the baby has some form of skeletal dysplasia.”
Skeletal dysplasia. Quite a terrifying word for something that covers such a vast amount of disorders. Currently, there are over 300 forms of dysplasia, the most common being Achondroplasia- or dwarfism. Right now, skeletal dysplasia occurs in about one in every 25,000 births, for a total of about 180,000 people. Sometimes it is a hereditary gene, passed on from parents or family, but now in more and more cases happening around the world, it is a spontaneous mutation that occurs in the fertilized egg.
As Andrew and I like to joke, its kind of like having an X-men mutant baby. We would just have to wait and see what her super powers would be. Right now, my money is on the ability to disarm anyone with extreme cuteness.
But in all seriousness…
I’m not going to lie and tell you that there wasn’t a millisecond of sadness in this hypothetical diagnosis. This sadness, however, was mostly borne out of uncertainty for the future and ignorance when it comes to disorders like dwarfism. But Andrew and I both allowed ourselves to feel it- even if for a short while, then we began to ask ourselves questions about where that feeling was coming from. We began to unpack all the possibilities for our life with this child and however different it may be than what we expected. And after a little while, a great thing happened. We realized that in no way would our life be different and it would be virtually impossible for her to not be amazing. Of all the possible things that we worried were going wrong throughout my pregnancy, this was actually a complete relief. Could there be challenges? Sure. But knowing how much love, fun and adventure lay within the walls of our home and life, we knew this kid was hitting the jackpot.
So fast forward to now, about a month out from Raye’s birth, and we get the results of the first blood test via phone call from the geneticist. He’s a fairly serious and soft spoken guy, but the tone of his voice had a lift and air of surprise. Negative for Achondroplasia. Wait, what? I can’t say I was relieved because I had already put so much energy into expecting the alternative outcome and accepting it as our new reality. It was more like surprise.
Back to square one. Two more genetic tests via mouth swab to determine if she has an even more rare genetic disorder that is similar to Achondroplasia, but in a more mild form called Hypochondroplasia.
Now here is the part where you ask why are we continuing to do all these tests, when Raye is seemingly a happy, healthy baby? Would we have even noticed the differences if not for all the extra scans and poking around during pregnancy?
Aside from the fact that her head size is currently way above average in the 98th percentile and her limbs are still on the smaller side, she seems to have no issues on the surface.
But when you spend the better part of a year being led down a path telling you that something isn’t quite right, it would seem fruitless to just abandon that path without first finding the cause of it all in the first place. It’s all just information at this point. And now that we’re here, we don’t want to be caught off guard if she does in fact have any sort of disorder that will present itself down the road. After all, isnt that what being a parent is all about? Doing your best to give your kids the best chance at life possible?
The fact that she is even here today is a miracle all its own. Perhaps she just inherited my ability to attract the strangest oddities and maladies? It will certainly make life’s interesting, that’s for sure.
Like I said, it’s been quite the rollercoaster. And now as I spend my maternity leave hanging at home with my rambunctious toddler and nursing my newest little one, I gaze into their eyes and daydream of all the things that can be in the coming years. Things have slowed down to a snails pace and I am ever grateful for these moments that linger like fluffy clouds. Because right now, and always, my girls are perfect.