Thursday, February 23, 2012

Learning More about 22q

Did you know they have free valet parking at the hospital?
We had another marathon appointment today (doctor, non stress test, meet with genetics, draw blood, rinse, repeat.) All still looks good, Clara is growing (so is her mom) and wiggling and not stressed (her mom might be). Mom came with us and we're so glad to have an additional set of ears and eyes to help ask questions and remember the answers, especially as my brain gets smaller and smaller. Half way through our talk with the geneticist, I couldn't remember if "immunity" was a word or not. Rest easy, it is.
The doctor is officially setting up my induction at this point-I will check in to the University of Utah the night of March 25th. They will induce me the next morning, so Clara Caroline Forbes's birthday will be somewhere between March 26th and maybe the 28th or so, according to our family history :) We also learned that there is a chance that we won't get to spend much or any time with her after delivery until they have run some tests and moved her to ICU at Primary. We were disappointed, but of course are willing to wait as long as is needed to ensure she is safe and taken care of. And in line with my mantra for the last month, at least we know now. Foreknowledge is the super-power I'd pick, that's for sure.
Brent, the geneticist, reviewed with us the potential hurdles Clara has ahead of her, including learning and social delays, possible digestive or feeding problems, and of course her heart. He also believes, looking at Todd and I, that the 22Q deletion was a spontaneous event and not inherited from us. However, I assured him that my dad is certain I'm missing at least one chromosome. So the geneticists at PCMC will possibly (probably?) still conduct blood tests on us to determine if we are at risk of passing this defect on to other children or not.
It was also good to have him confirm that they have, in fact, NOT seen any other issues in any of our ultrasounds that cause concern. I have been harboring a secret fear about what they know and aren't telling me yet, trying to protect me so I don't have a total come apart. Luckily, Todd told Brent straight out what I was worried about and Brent  advised us that, as far as what they can see, there is nothing they haven't told us. And thanks to input from Mom and Jenn, I was able to ask one of the harder questions-what options she will have when she wants to have kids. I knew that she has a 50% chance of passing the deletion on to her babies, but Mom and Jenn (with Brent's confirmation) helped me see that there was potential through IVF and pre-implantation genetic screening for them to pick an embryo that does not have the deletion, if that is what she wants. (Can you imagine, just a few short years ago, me worrying not just about my baby, but my baby's babies? Have I grown up, even though I still don't make my bed, ever?)
Todd, Gir and I are now snuggling in the new blankets Mom made for us-clearly, her way of keeping busy while we wait for Clara is much more productive than mine, which is mostly Pinterest and long baths. We know almost as much as we can know at this point, and we'll just be killing time for the next month. So if you have a puzzle you need figured out or a really long book and book report you need handled, you know where to find me!

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