Tuesday, January 26, 2010

A new addition

Forgive me if I've been totally MIA when it comes to my blogging duties lately. I have pregnancy brain.

Yes, Hope will officially become a big sister this spring (note the big smile on her face above; she has no idea what's ahead). I'm five months along now and due in early June, though I'll likely have a C-section in mid-May because of two previous ones.

Now, some of you may be wondering why two people with a known genetic condition in the family would even CONSIDER having another child. As incredibly grateful as I am to be Hope's and Will's mom, I've always longed for a healthy child. And shortly after Hope was born, Joel and I learned that the possibility existed that we could -- through science.

Joel and I were able to do some very, very detailed genetic testing at the embryonic level before I even got pregnant. It's called Preimplantation Genetic Diagnosis. Basically, people way smarter than me -- scientists -- can build tests for families with known genetic conditions to test future pregnancies for that same condition. In an amazing coincidence, we went to a facility in our own backyard, Detroit, and a test was built using my DNA, Joel's, Hope's and Will's (which we banked before his death, hoping that we'd one day be able to have an official CdLS diagnosis). Using that test, we were able to test specifically for Cornelia de Lange Syndrome at the embryonic level. PGD, which has been around for about 13 years, is 97 percent accurate.

It's a lot to get your brain around. To do this testing, we had to go through in vitro fertilization. We went through our first round in September and got the amazing news a week later that I was pregnant. In vitro is not an easy process in and off itself. I gained so much empathy for people with fertility issues because it certainly isn't easy. It's physically, emotionally and financially challenging.

But the amazing news is this: About a week after Christmas, I had an amniocentesis. We had to send everything off to a special lab at the University of Chicago which is the only lab in the country (I think) that tests for the NIPBL gene mutation Hope has and Will had, which causes CdLS.

Our baby does NOT have the NIPBL mutation. I just cried when the genetic counselor called me. I had tried to prepare myself for every possibility. But to hear those words, I can't even describe my relief. For a couple days afterward, I jumped every time the phone rang because I kept worrying the genetic counselor was going to call back and say she got it wrong. It's been two weeks now and I don't think she's calling.

I realize that some people may disagree with our decision. Joel and I could've chosen adoption. But adoption has its own challenges and I just hope that those who don't agree with our approach withhold judgment until they've walked in our shoes. Again, I feel SO blessed to be Hope's and Will's mom. And yet, I've always wanted a healthy biological child -- a child who'll hopefully one day learn to read, play soccer and graduate from college.

I realize there are no guarantees. So for now, I just feel thankful. And I'm keeping my fingers crossed that this pregnancy continues uneventfully. All I'd like in the world is a boring pregnancy. Oh yeah -- and a healthy kid!

One last thing: We're having a BOY! As I said before, Hopesy has no idea what's in store for her. I can't wait.

Sunday, January 10, 2010

The blog lives

Contrary to my lonely heart proclamation in November that we'd do better with the blog, we clearly failed. But it's a new year, a time for grand proclamations and terrific intentions. Hey, anything is possible.

The holidays were lovely as always. Hope survived a nasty one-two punch of seasonal maladies shortly before Christmas. First, she caught a virulent stomach flu that made the rounds of Mo's family faster than the Japanese Bullet Train pulling into Osaka. This holiday will be remembered in the family annals as "Oh Yeah, That Time Everyone Was Barfing."

We feared Hope would have to spend Christmas in the hospital. She lost nearly 2 pounds through dehydration, which is the equivalent of about 20 pounds for a 15-pounder, and generally had the temperament of a damp dish towel. She did spend about three hours in the ER on Christmas Eve Eve, but perked up with the nourishing drops of IV fluid and we were discharged.

But her bout with the Ralph Macchios was only half the problem.

The clues, as they are wont to do, emerged gradually. No. 1: Hope screamed for four hours straight two nights in a row. No. 2: She would only sleep in the darkest, coldest part of the house. No. 3: She liked standing in front of the freezer. No. 4: Her eye began to cake.

Naturally, I read the signs, used my advanced powers of deduction and solved the caper: I think she's hungry. Her wails are those of a famished child confronted with a cruel paradox: She wants to eat, but cannot, because she has the John O'Hurleys.

Fortunately, I'm married to someone who may have married a lummox, but isn't one herself. Mo took Hope to the eye doctor. She had a corneal ulcer. Those are bad. They are formed when an abrasion to the cornea becomes infected. Somehow, Hope must've scratched her eye. Untreated, they can cause permanent loss of sight. If nothing else, we feared Hope might have to take a cue from Jack Sparrow and wear an eyepatch for Christmas.

But doubly fortunate, we caught it in time and, after about a week, the nasty milky spot in her iris has disappeared.

We missed most of the local festivities, quarantining Hope, but she rebounded in time to fly with us to Connecticut for Round Two of the Yuletide Hootenanny: Seven days with my family. Hope regained her weight and her spirits. We ate. We played too many not nearly enough games of Monopoly. We hit all sorts of touristy, geeky yet thoroughly entertaining historical sites in Hartford (who knew?) and generally had a merry, merry time.

Too merry to document, in fact, but not too merry to steal a video from my dear ol' Mom documenting Hope's continued efforts to walk. She's still got a ways to go, but she finds it all tremendously entertaining. And so do we.