Monday, April 9, 2012

Cute Chromosomes and Other News

In happier news we met with the geneticist. He happens to be wonderful and funny and all the things a parent would want, including totally attentive.

"So, you have a list of questions for me?", he asked after wrapping his gigantic hand in a warm and extremely reassuring way around mine. We did have some questions, mostly about her little idiosyncrasies that in any other baby we would ignore and know to be normal, but because of The Downs*, we wonder about them. What about the sleep twitching, the breathing variations, the reflux and the leaky tear duct? Pretty much normal newborn stuff. Stuff than might turn into A Diagnosis, but for now is stuff, like in most babies.

I've gotten bored with Down syndrome. I can't help it. The doctor confirmed what we had gathered on our own, there is a spectrum. We know she doesn't fall into the heart defect/bowel obstruction/severe hypotonia categories. We can't know about her level of mental retardation, if there is any at all. As the doctor explained, there are Down syndrome people who have IQs above 100, which is the general population average. In other words, there is no "They", just Mariana.

I asked him, in a way that could be taken badly by a prideful man, what we are seeing him for exactly. Basically to keep vigil for possible problems. Hypothyroidism is common, and in young ones can affect brain development. There are other possible complications that may (or not) present as she grows up. We are to be on the look out for many things, and yet we are also meant to raise her as we have been raising the other four, to be disciplined, happy, healthy and loving. He talked about treating her like a baby, playing with her, singing to her, giving her the right balance of stimulation and rest. "Don't leave a book about Down syndrome near her or she'll find out that she can get away with doing less!" But he is there for us. The end. Our Down syndrome resource, without any pride and encouraging us to find our own answers online or in books. "You come to me when what you are reading isn't jiving with what you are seeing."

It was a comfort, knowing our doctor has seen thousands of patients with Down syndrome, seeing how unimpressed he was with our family dynamic. His dropping a comment about the likelihood of DS in our next child**, as though it was a given there would be a next. We asked about if there was an increased chance for our offspring to have Down syndrome children. He made a joke about how it's only genetic in the 8th child, if she's a girl and "cute". (Mama did her make-up that day, FTW!***)

The best part of the whole meeting, and I think Scott agrees, was the photo of her chromosomes. Now, I know it's the mama in me talking, but my girl has the cutest little chromosomes ever. They are all lined up and numbered so we could see, yes, there are three 21st chromosomes. There are also two over the letter X and none over the letter Y. Even though we are clearly aware of the fact she is a female, it's cool to see it on an official report on her chromosomes. I mean, really.

Again and again I find myself asking what is so special about this stuff. Of course Mariana is special. Of course I adore her so much I feel like I could accidentally set her on fire with my love. I love her so much that a photo of her chromosomes gives me a warm-fuzzy feeling. What I find is that I'm better about not borrowing trouble from this diagnosis. She may or may not do or be a million combinations of trouble. Isn't that true for all of us? She also may or may not be a million combinations of wonderful, which is way more fun to anticipate. Yes, I'll anticipate the wonderful, and accept the trouble when it comes. It makes for a much more fun existence, I think.

*The Downs is how I refer to Mariana's condition when I am I little tired of running into a particular Chicken Little type reaction. I know I need to be more charitable, but I'm not afraid and can not really understand the fear in others.

**I am not making a prediction, just relaying what the doctor said, unprompted, about our chances of having another DS child. The chances, by-the-way, are the same had we not had a DS child.

***FTW, for those not in the know, means For The Win. It's a declaration of victory, usually over something that was never a competition in the first place.

No comments:

Post a Comment