My kids look just like my sister Cami. No complaints here!
As you can see, this little darling has started smiling (as of Monday morning). But she’s a little stingy. When I asked her to smile for the camera, she gave me these faces:
But then she said, “Jokes, Mom! Loosen up already.”
After a dramatic beginning to the week, we were overjoyed to get Lily’s test results back. I tried to hold her and Amelia as much as possible, and was completely emotional.
Lily still sleeps all day – waking only to eat.
One day while Amelia was taking her nap, I staged a photo shoot of Lily. I loved her faces in the pictures, I just wish I had a nicer camera.
What a gorgeous baby!
Thank you for all the kind comments and phone calls and e-mails – I really (truly) appreciated it over the last couple days.
We got Lily’s results today, and her sweat test was negative. This means (according to the genetic counselor with whom we spoke afterward) there is a “99.99999 etc.” chance that our baby doesn’t have cystic fibrosis. Those are odds I can live with. She is carrier for the genetic disease, which means that her kids could have the disease if she marries somebody who is also a carrier.
I am, as you will imagine, enormously relieved (to say the least). I did manage to wait until after we left the sweat lab to burst into relieved tears. Tim and I are undergoing more extensive genetic testing in case we decide to have more children, but we are pretty sure he is a carrier and that I’m not since I was tested for the most common CF mutations when I was pregnant the first time. Lily has the most common (delta F508) mutation.
There was another couple at the hospital with a newborn who was to undergo a sweat test as well. Judging by the huge bags under their eyes and their looks of intense sorrow, we think they were coming to the sweat test lab with two mutations - to confirm that their baby has CF. My heart aches for them, and for any family who has to deal with a devastating illness or disability of any kind. We were lucky, but there are many who aren’t.
We are lucky – we know that. Our luck could change at any second. I’m left with a bit of a scar – I guess it can go along with the stretch marks that formed while I was carrying Lily. Maybe the fibrous scars of pregnancy and childbirth are just there to give us some kind of physical proof of all the emotional hits we take when we decide to procreate.
I enjoyed all of my statistics courses; I understand what statistics mean, and what they don’t mean. I enjoy talking about them, discussing various approaches and interpretations of statistics.
And, normally, I take comfort in statistics. For example, I am terrified of heights, but I love amusement parks and go on every scary roller coaster possible because there is only a 1 in 300,000,000 chance of dying in a roller coaster accident. Those are good odds, really.
But what I discovered almost immediately upon becoming a parent was that the margin of error I am comfortable with decreased by about 50 logs when it comes to my children.
Today I got one of the worst phone calls of my life – it was from our pediatrician. She said one of the newborn screens came back positive for Lily. One of the bad ones – cystic fibrosis. This doesn’t mean that she has cystic fibrosis, necessarily.
Lily’s IRT levels were elevated, which is a risk factor for CF. Because this screen came up positive, they did a DNA test, and found that she has at least one mutation in the CF gene. If they had found two mutations, she would very likely have CF. Usually (here is where statistics play an ugly and terrifying game) babies with elevated IRT levels and one known mutation are healthy carriers of the gene. In this case, Lily would not develop CF, but her children would have a chance of developing CF if she married somebody who was also a carrier.
But … she could have CF. The screens are designed to test for only the most common CF mutations, and there are thousands. The “odds” of her testing positive for CF at this point are approximately 1 in 30. Lower than 5%. These are good odds, says my pediatrician. But 5% is, statistically speaking, an impossibly enormous number if you are a mother waiting to find out if your child’s life could be characterized by pain and suffering and hospitals and loneliness.
Wednesday we will have a sweat test done – to see if there is too much salt in her sweat (apparently one of the first symptoms is salty-tasting sweat). It might be too early to tell, just to warn you. All these medical and scientific advancements, and the diagnosis of one of the world’s most devastating illnesses comes down to salty sweat. Huh.
Lily “probably” doesn’t have cystic fibrosis: http://www.bcwomens.ca/NR/rdonlyres/776E6BBA-747A-4D9C-8447-15603FE49955/42627/CysticFibrosis1mutation3.pdf
This morning when I woke up, I was worried about whether I was going to get the laundry done. The laundry, for the love. How could that possibly have mattered?
When it comes down to it, the statistical prognostic seems meaningless. She either has CF or she doesn’t. It’s 50/50 from where I stand, and where I stand feels like the unstable edge of the highest, pointiest precipice on earth, with a blizzard on the horizon with a 1:30 chance of heading my way.
……………..
After I spoke with the pediatrician and a doctor in the pulmonary center at Children’s Hospital about her sweat test, I fed Lily, and begged her not to test positive. Instead of answering, she fell asleep. I put her down for a nap, but then decided the laundry could wait. I picked her up and lay her on my chest while I watched her sleep, happy that she was blissfully unaware that little tear drops kept falling on her head.
Lily’s first week at home went great. We all fell madly in love with her right away. She is such a sweet little girl.
Lily has been able to turn on to her belly since birth. We were hoping she’d grow out of it (because it’s safer for her to sleep on her back), but she is very opinionated and MUST sleep on her side. Luckily, she doesn’t like to be on her belly, so when she rolls onto it, she cries and I wake up and put her back on her back. And then she immediately rolls onto her side. Naughty baby.
One of the first things we noticed about Lily is that she makes some hilarious faces. She often looks at us as though she’s suspicious of something. I haven’t been able to get many pictures of her faces, but I’ll keep trying.
One of our favorite things about Lily is that she makes funny noises when she sleeps. She NEVER sleeps quietly – always sighing, giggling (or something that sounds like giggling) or making this funny whimpering noise. She smiles a lot in her sleep – it’s so fun to just watch and listen to her sleeping.
I know she’s ready to eat when she starts making suckling noises and trying to suck on her fingers or hands. If I wait to long, she goes from peacefully sleeping to full blown screaming in a matter of seconds. This girl is opinionated!
She usually naps in her carseat or on my bed. At night she sleeps on a bassinet by our bed – I can’t stand not having her right next to me. Oh, we love this little baby girl!
