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!

Sunday, February 19, 2012


Yesterday went by so FAST, it was like I was speeding through all the good parts! ;)
What a wonderful spring-ish day. Todd didn't sleep and I was up early, so we started our day with our all time favorite thing to do-we went out for breakfast. Sadly, it was about 5:30 AM so Denny's was our only option, but it fit the bill this time. And what a perfect hour to test our seat warmers in the new car we bought! (It's a Hyundai Elantra Touring. Clara's first station wagon! And later that day, I got my first speeding ticket in about 10 years, right in front of Gardner Village. Kim and her girls put up a valiant fight against the cop, but he was not so forgiving. The Sharp girls are convinced he lives in his mom's basement with 37 cats and so has no sympathy for real people)
Then there was a wonderful baby shower at Mom's house with the local girls and aunts, cousins, cousins' kids, etc.
Most of you will have seen Kim's email about Welcome to Holland, the darling story about what it feels like when you find out your child may have special needs. The ladies did a great job of decorating with some tulips, and even Wally got in on the action (Thank you again for the beautiful flowers, they meant so much to us!)
Clara was spoiled with some darling outfits, a new stroller and a great bassinet. Everyone at the shower also helped finish a super-cute quilt that I just can't wait to put on the floor with my sweet baby girl and then we can lay there and stare at each other. That's what you do with new babies, right?
Todd and I then spent the evening having dinner with his parents. We got to talk through the information we do have about what will happen when Clara is born, her first surgery, and what to expect the first few weeks. Again we feel so lucky to have all this time to prepare and talk through questions and ideas and concerns. We couldn't do this without the support of all these wonderful family members and we loved having a day spent with so many of them.
(PS-We missed you a lot, long distance families! I'll figure out how to add some photos on here, and we hope to talk to you soon)

Friday, February 17, 2012

Missing Pieces

My (newest) sweetheart sent me a strange Valentine this year. My little family has never been one for strictly following ceremony or tradition, but this message was really odd. She revealed (through super serious science and lab results and scary looking chromosome pictures) that she does indeed have DiGeorge syndrome. I believe she meant it lovingly, in the spirit of the holiday, but perhaps next year we can stick to chocolate.
We got a call from Brent, he's our geneticist and we understand that we'll probably become dear friends with him over the next few years. And I'm glad he's named Brent, because there are few names more comforting to me than Brent, except maybe Mom, which would be a weird name for a geneticist. He reviewed the results with me and confirmed that Clara's chromosomes formed with a piece missing: 22q11.2, to be exact. I quickly ended the call and when Todd joined me in the car, I told him the news. We were driving to Nate and CC's to free a mouse that was stuck in Coke syrup in their garage. A strange activity, but one that I will forever associate with that time. We both cried the whole drive over, and my heart breaks just remembering the sound of Todd's voice saying "my little girl..." The fear and anger and all the unknowns were overwhelming.
We talked to mom briefly and she volunteered to call family for us. It was such a strange night of being sad and still so excited about our baby and not really knowing what to feel. Jenn arrived, and while she was warned not to visit when my house was a mess, we let her in anyway :) We talked about her boy and some of the struggles Tate had that we think are coming our way.
I went to work the next morning, despite my desire to crawl under my blanket or sit and watch reruns of the Real Housewives of Orange County. I'm so glad I did, because my co-workers had planned a surprise baby shower for us. It was such a nice afternoon, and was so kind of them, it almost had me in tears. I was very careful not to look CC or Nate in the eyes during the entire event, I knew that I would fall apart. But it was so much fun to celebrate with friends the joy of this little one coming in to our lives. Stay tuned in for pics.
I also spent the evening with Mom. And just like every proverb and cliche about the comfort of moms, it was HEALING. We looked for a car for Todd and I, we ate soup, we did some crying and laughing and planning and so much of my anxiety was gone. And some day, when Clara faces challenges  and hard days, I know that I will get to be HER mom and help her feel better. And what more could I even want???

PS-Nate and CC, I stole a box of tissues from your garage. Deal with it ;)

Monday, February 13, 2012

It's a Date!

We had another appointment (what, more doctors, you say??) today with the MFM (Maternal Fetal Medicine) group or perinatologist. He's well pleased with my blood glucose levels, so I think I deserve a cupcake :)
We are at 32 weeks now, so we'll have weekly non-stress tests to make sure Clara is doing well, and then we'll step that up to twice a week when we hit 34 weeks. But the best part...Dr. Richards said he'll plan on inducing me at 38 weeks, just 6 weeks from today!!!
Still no news from the geneticist on DiGeorge, but who has time to worry about that, we're having a baby! So much nesting, so little time...

Visiting the PCMC Clubhouse,er, ICU

We had another echo up at PCMC on Friday. After another nerve-wracking 30 minutes of examination, they assured us that there were no new concerns. Clara's heart is looking just as they expected and they have the additional information they need to prepare for her first surgery. Whew.
Kim, the nurse coordinator, took us on a tour of the CICU and surgical units. Within a few hours of Clara being born, the PCMC team will pick her up from the U and admit her to the ICU at Primary. The first few days, they will do some echos and x-rays, as well as a battery of other tests, and prepare for her first OHS (open heart surgery.) She will be allowed visits from mom, dad and grandparents at (mostly) all times, and other older family members accompanied by us. We will be able to hold her and I can probably feed her during this time. Once the fluid is cleared from her lungs and the surgery schedule allows, she will leave the ICU for surgery. That takes most of the day, when you factor in the prep and recovery time. Once she returns to the ICU after surgery, we won't be able to hold her for about 3-7 days, but we can still visit and spend time with her.
Once Clara stabilizes in ICU, she will be transferred to the surgical unit. This is the last step before going home!! We will probably be there for another few days, maybe a week, but she will be in a private room that Todd and I can stay in with her.
While we were visiting the hospital, we got to meet a few of the ladies from the IHH Forum we've connected with. It is CHD Awareness week so they were handing out cupcakes and information, and it was great to meet a few of them in person. I have no doubt they will be another important part of this process, and they've already been such a support.
We also talked to another geneticist and we enrolled in a study of CHDs. They will test Clara, Todd and I and use our blood in future studies to research the causes of heart defects. For other readers of The Immortal Life of Henrietta Lacks, don't worry: we thoroughly read and understood the release forms and what will happen with our 'parts' :)

Tuesday, February 7, 2012

Good News, Part 1

The geneticist called and the non-DiGeorge testing came back normal. We won't know on the DiGeorge (chromosome 22q11, for you Google-happy nerds) for about another week, potentially, but all other chromosomes look good. I've been particularly stressed since Dad told me about Rick Santorum's daughter having some kind of syndrome. He told me that and then just LEFT TOWN, left me to research and panic like that and feel bad for not liking Rick Santorum one little bit. And then I got a terrible toothache last night and can't get in to the dentist for a few days and I can't sleep and can't eat. So I was about to start crying, like I do now, when the geneticist called with the good news. Go Clara!

Keep your fingers crossed that there will be a Good News, Part 2 soon!