Thursday, January 05, 2012

Taking a Quick Breather

As if the holiday season isn't frantic enough, our home was blessed with RSV, bronchiolitis, ear infections, and bloodwork.  All of this just for Little Man. Little Miss had a cold which she insisted we all share in, of course :)

A little info about the bloodwork:  When Little Man was born, he was diagnosed with Primary Carnitine Deficiency courtesy of his newborn screen.   (Don't Google it, you'll be terrified.)  We were set up with a geneticist and genetic counselor and traveled to Baltimore and had enough testing between him and myself that we ought to be prunes now.

 In September 2011, things were still unclear and we took a radical step and took him off his medicine (4x a day) for 3 months and then we'd do more tests.  We had the testing done right before Christmas, and we waited...and waited...and this morning I got the results.

Little Man's liver has normalized and is functioning 100% and we DO NOT have a primary carnitine deficiency after all!!!  There are some minor details to bear in mind during future pregnancies, but he's just a normal boy now.  Praise God from Whom ALL blessings flow!


Additionally, we await the scheduling of an appointment for Little Miss in Baltimore or Philadelphia with a plastic surgeon.  (We don't think she's beautiful enough so she's going in for a few tweaks)  *NOT REALLY!*

See the dark spot on her cheek, back near her ear?  Well, it's been there for a couple months at least and we do not know where it came from or what it is.  It feels like there's something inside it.  We'd love to find out that she somehow got a pencil point jammed in her face, but we do not know how or when that would have happened without her flipping out about a boo-boo, etc.  SO...we have to see a plastic surgeon about having it removed.  Pray that the appointment will get scheduled soon and we can put this all behind us!

As a final note, Little Mitten Man is no more :) Little Man was able to take off his mittens much sooner than anticipated and have a super fun Christmas using his tiny hands. Just a little tender and red.  What a blessing!




2 comments:

hannah singer said...

hooray for no signs of the deficiency in little man!
praying for girl's plastic surgery possibility.
love you ALL!

Marie said...

um...you could let a girl know that you are blogging again!! Just kidding:)

talked to your mum last week...praying that you feel better--especially with the new little one to watch.