New Normal, the horizon compass

Before last week I had never heard of 22q11 deletion syndrome. Before you click on the link, like I did when I was first told my baby son has it, let me say that he does not have the worst of it.

Ever since he was born I have been at odds with our family doctor who sent us on to specialists and more specialists. None of them could see anything wrong with baby Zap other than that he is little and was gaining weight slow. We had a latch problem that a local lactation consultant found and we corrected with work. His soft spot closed, but the CAT scan showed that it wasn't fused and ok. The first round of tests came back all normal. He's deaf in one ear, but so was Chad as a baby so I don't see this as a big deal. Other than that, he was passing all the development tests and yet, the neurologist wanted to double check something so he ordered a series of blood tests.

Then. Then the doctor calls me himself. I was used to hearing good news from his nurse. I missed the call and spent two frantic days playing phone tag. We got him on the phone and he said 22q11. It's not even a name, it is a description.

It explains his deafness. It explains his soft spot closing early. It explains his slow growth. There might be motor skill delays. There might be speech issues. His heart seems fine, but they may run tests to make sure. His kidneys seem fine, but they may run tests to be sure. His immune system fared a bout of Influenza B better than his sisters even, so that seems ok too. His palate seems normal too. Heart and palate problems are the recognizable symptoms for kids with 22q11 and yet, he doesn't seem to have those issues.

We don't know what to expect. Our family physician had never heard of this before, or never had a patient with it, so he's researching it just like we are. I'm coordinating care between him and the two specialists and making sure overapping orders for vitamins or medicines are ok'd. We see a geneticist later this year. My head is still wrapping around this mostly because, well, because Zap is still a healthy little bright eyed baby boy. He's chatty and robust and funny. He's eating well and gaining well and loves to pet the kitty and have his sisters hug and kiss him. He's totally normal.

And yet, this genetic thing, this deletion answers so many questions. This answer has eased those doctors off pressuring me to feed him formula or vaccinate with live virus (22q's have different response to vaccinations so we need to learn more about that before we go that route). Getting this scary sounding diagnosis has let my mind ease up from defensive mode and just enjoy my sweet little baby.

We'll let this unfold as it does and we'll help him whenever something comes up. Next up is a visit to the ENT docs to see abut his ears. Just like his father, the deafness can likely be mostly corrected by surgery.

So how am I feeling about all of this? Looking from the pictures of kids with 22q11 and then back at my little boy, there is hope. There's a decent online network. I have friends who have kids that have different needs too and they have been a huge support this past week. Teary phone calls and medical glossaries have dominated my days. I wonder if I can handle this much medical professional interaction. I hate hospitals and blood draws and the knee jerk reactions to medicate instead of change lifestyle and suddenly I am right there on the front line with my baby to offer up. I don't like it, but it is where we are.

Also, a thought on comments. Why? In telling friends and family I have heard a range of responses three of which make me want to punch someone in the face: "I'm so sorry" and "I don't know what to say" and the one that was not to my face, "you just told me that to make me feel bad." So let's be clear, this diagnoses is not a death sentence. It's like having red hair or an extra toe, it is a genetic set of programing that may involve a few extra doctor's visits. It is not something we are sorry about. Second, I told people because they asked before we were ready to really put this out there. I don't know what they were expecting. Hey, did you get the results back? Um, yes, this. !!!!! Really? And the last, well, that person is just like that and we love her anyway, difficult as that may be.  I just do not want more of that here. I don't go around saying, "Gee I'm sorry your kid is a pain in the butt." or, "I'm sorry your kid has pretty hair." You get the idea? Please. I hope. Everyone I have spoken to has been well meaning and full of love, but those words still hurt. The best response was, "Thanks for sharing that. We've been worried. Lots of love to you." Yes. Better.

One more thought. This past week has been tremendous in my thoughts, the way my mind has explored and researched and I keep coming back to the imagery of rural Colorado as a kid. Always to the west we saw the Rocky Mountain Range. Where we lived was dessert like, but we could always see the mountains in the distance. As a kid I was convinced I could walk there, run away to there, that it was just  beyond but still a real possibility and a longing. Motherhood was like this. I could always see normal, see what I was striving for. But, the reality of it is the same. Those mountains are unattainable in a days hike. When I moved to the Midwest as a preteen, first Illinois and then Iowa, I lost that anchoring compass. I searched for replacement and always felt a little lost and disoriented. Since all horizons looked the same I had to be present in the place to feel grounded and solid. Being present, everyday appreciating the green and life and wonder and specialness of each place and moment, is hard. It's easier to daydream about that distant mountain range. Way easier. The thing is though, that time spent daydreaming is time lost that could be filled with laughter and cuddles and fresh picked strawberries. 

This diagnosis is not a death sentence. Oh, did I already say that? I meant it. It's doesn't even really change who we are and how we will live. A few extra road trips, a closer relationship with our local doctor and nurses, and a little more time feeling utterly blessed by God for the life we live. Even if that time is spent on the road driving to distant cities to see specialists, it's time we'll spend together. 

This diagnosis is just a label. It doesn't suddenly change who my son is, it simply gives the worried doctors a label to slap on the file and a reference to turn to if results seem off. Normal for everyone else isn't normal for Zap. That's kind of who we are anyway. I mean, if you've ever met us in real life or have been reading here for any amount of time, that's no surprise. So the test result was actually a relief in a way in that now he gets to just be. 

If something goes wrong, we'll let you know. Prayers are always welcome. Right now we're good to go. 

Ps. If anyone stumbles across this and knows more about 22q11, please feel free to comment, link, offer resources, ect. We're new to this.