Friday, February 10, 2012

Genetic counselor update and "Look ma, I can spell."

Henry (19 months old) let me know this morning that today was going to be a good day.  Normally when he wakes up in the morning, he's all business.  He wants his sippy cup of warm milk ("Milk. Hot.").  He'll let you know if he's pooped ("Poop. Diaper.").  Then he wants to go downstairs for breakfast ("Oatmeal."  Which sounds remarkably similar to "Elmo" or "elbow" in Henry-speak.).  Today when I walked into his room, he started giggling hysterically from his crib.  I hand him his cup of milk, and he's still giggling.  Plunk him onto the changing table--still laughing.  Not that he's not a happy kid, but this is not his usual mode of operation.  *Then* he wants me to sing his current favorite song--an obscure little song with a lot of doodle-oodles at the end.  To make his request known, he says "Doo?"  He's maybe the only person in the world who actually desires to hear me sing, and rightly so.  But he loves it.  The joy he was getting today from this crazy little song was a great way for me to start the day.

Jonathan and I met at 9:00 for our appointment with the genetic counselor.  We didn't get a lot of new information, but we did have a good discussion about genetic testing.  There's a brand new blood test that the FDA just approved that can check for Trisomy 13, 18, and 21.  This would be a test on *my* blood and wouldn't involve an amniocentesis.  The down side is that it's brand new and it ain't cheap.  Right now, Jonathan and I are waiting for the fetal echocardiogram (a detailed ultrasound of the baby's heart) to figure out how to proceed as far as an amnio.  If the echo shows any kind of heart problem, we'll probably go ahead and do the amnio.  If it looks okay, well, then...I dunno.  We still might do the amnio.  We'll see how we're feeling when the time comes, I guess.  The echo should be scheduled in the next week or two, but we don't have an appointment for that yet.

We also briefly saw Dr. Nuthalapaty, the perinatologist.  I have now learned to both spell *and* pronounce his name, because here's how our conversation went today:

Dr. N:  Hey! How are you guys?  I read your blog!
Me: You...wait, what?  Wow, word travels fast.
Dr. N: Yeah, me and my unpronounceable last name.
Me: <facepalm>
Dr. N:  That's okay. Do you guys have any questions for me today?
Me: I'm so embarrassed.  Oh my word. I am *so* embarrassed.  I'm really sorry.

Lucky for me he's a nice guy with a sense of humor.

We continue to believe that God can heal our little girl.  Whether He chooses to do this or not, we will be okay.  And Bee will be okay.  But we ask that you continue praying (sending positive energy/vibes/good thoughts) for her little body.  We'll get another peak at her when we have the echocardiogram in a week or so.  Please pray that we wouldn't get discouraged or anxious in the wait between now and then.

Also, there are a couple blogs I've found that have been extremely encouraging to me over the past few days.  Please pray for these two little guys who are in the middle of a ferocious battle against CDH.  Jude and Killian.  Keep fighting, guys.


  1. Praying that the ECHO will show a perfectly formed heart. Hearing that heart beat is the best! Glad you have a happy Henry to bring joy and smiles during all this uncertainty and waiting.

  2. I will be praying for you my friend. Bee will be A-O-K :-) I trust in the Lord and i know he can Heal. She is fine in the name of Jesus!!! I love reading your blog. You are a great Blogger!!! :-)