22Q11.21

We just celebrated Calvin's seven month birthday! Hooray! 

And we're celebrating another milestone for our sweet boy: Calvin is starting to sit up on his own! He hasn't totally mastered this new skill, but his dad and I are still pretty excited that he can do it even for a few seconds! 

See? He stayed there long enough for me to get a picture... but just barely :)

I realize that there are babies much younger than Calvin who have got the sitting thing nailed. His "girlfriend" Autumn, who is 5 months old has been able to do it for weeks. And I have seen other 7 month old babies who can crawl and push themselves up into a seated position all on their own. And this is sometimes hard for me to see as a mother. I'm sure it's not a unique tendency to compare my son to other kids and to want him to be just as advanced and more. But I remind myself that Calvin will do things in his own way and in his own time and it's just my job to keep him in an environment where he can learn and grow safely and happily. And I remind myself that for Calvin, reaching those developmental milestones calls for a little extra celebration.

There were a lot of unexpected things about Calvin that we learned in the first few months of his life. The first in this list was actually discovered at my 20 week ultrasound when the technician typed "2VC" into my ultrasound summary. She also told us Calvin was a girl. We later learned that 2VC meant that my/Calvin's umbilical cord had two blood vessels instead of the usual three. This is sometimes associated with other developmental problems, so they sent us to a second ultrasound. At the second ultrasound they assured us that everything else was fine and that Calvin was not a girl, but in fact a boy! 

After Calvin's very unexpected early and fast entrance into the world, there were the usual new baby things to worry about... breastfeeding, swaddling, jaundice... We were having lots of trouble feeding him so we often had to feed him using something called a Supplementary Nursing System which is basically a bottle with tiny tubes that can be taped to a mother's nipple, or a fingertip to feed the baby extra milk. 

James is "finger feeding" our tiny hungry boy with the SNS.

Then, starting a few days after he was born, Calvin basically had a string of doctor appointments where they kept finding things wrong and then telling us that they would be ok... He had to have an ultrasound to check his kidneys because kidney defects are common in babies that had 2VC, and of course we thought they wouldn't find anything, but sure enough his kidneys were slightly enlarged. His pediatrician found a heart murmur and an inguinal hernia. The cardiologist who checked his heart murmur found something called a diaphragm eventration which is where the diaphragm has some extra fibrous tissue that makes it shaped like a dome instead of a flat plane. We were assured that all these things were minor cases and didn't require surgery - except for the hernia. That had to be repaired so Calvin had surgery for his hernia when he was 4 months old.

But the sheer number of unexpected "issues," however minor, raised a red flag for Calvin's pediatrician. So his doc sent us to yet another specialist. This time, genetics. 

We had done the usual genetic screens while I was pregnant and nothing had come up. We were at very low risk for having a baby with genetic defects given our family histories and age. We were sure that the genetics department wouldn't find anything and it would turn out that all of Calvin's minor problems were just coincidental. 

And then came the most unexpected news of all. A genetic micro-array revealed that Calvin actually has something called 22Q11.21 deletion syndrome. In the past, this has been called DiGeorge Syndrome, Velo Cranio Facial Syndrome, and a number of other syndromes until the development of genetic screening revealed these were all different presentations of the same type of chromosome deletion. Basically, some of the genes from Calvin's 22nd chromosome didn't get copied during his early development in the womb. He went on developing without them. It's something that usually happens spontaneously and it didn't matter that James and I have "normal" genetics.

The genetics doctors went on to explain that this deletion is commonly associated with birth defects including heart and kidney defects and cleft lips or palate. Turns out Calvin was lucky to only have very very mild effects on his heart and kidneys. And with this new information about Calvin's genes they were able to diagnose him with something called a "sub-mucosal cleft" based on his feeding problems. Again, a very mild version of a problem commonly associated with 22Q (The sub-mucosal cleft is why we eventually had to switch to bottle feeding).

There are a wide range of other developmental differences associated with 22Q...  immunological problems, endocrine system problems, feeding problems, delayed speech, and delayed motor development. But the thing is that there is also a very wide spectrum of severity of those problems. We were and are optimistic based on how lucky Calvin was to escape serious birth defects. But we had to see more specialists to be sure. The immunologist told us to be cautious, but gave us the thumbs up. Tests from the endocrinologist came back normal. The cranio-facial team (whose job it was to help us with Calvin's palate) said we'd have to wait and see whether it is something that will need surgery later on. 

As for speech and motor development, those are more "wait and sees." With his genetic deletion, Calvin is expected to be a little behind and to need a little extra help. So when we see him learn new things - babble new sounds, move in new ways, sit up even for just 10 seconds! - it's not just exciting because of the milestones themselves, but because it assures us that our little guy is going to be ok! It relieves just a tiny bit more of the worry. It lets us know that missing those genes isn't going to ruin Calvin's life! It reminds us to be thankful for how well Calvin is doing now, and to be optimistic for his future.