Tuesday, August 5, 2014

Some test results are in

We had our two week appointment with our pediatrician today. In good news, Sammy has been gaining weight and now weighs 7lb4oz. She's 80% breastfed and 20% supplemented with formula and the pedi is very pleased. I'm pleased too, because there are many days where I'm wondering if she's getting enough and this was a good reassurance that she is.

We were all waiting on the edge of our seats for the following tests to come back for VLCAD: A repeat state screen, a urine test, a first blood panel, and the final genetic test.

Today at our appointment, we found out that the urine sample was lost. Our pediatrician was so mad and apologized profusely to us for it, even though it wasn't her fault. We were frustrated about this too because it's hard to get urine from a tiny baby. They have to tape this little bag around her private parts, shove a cotton ball in her behind, and then wait. Not fun for anyone. But it is what it is.

But we did find out that the results for the first blood test had come back. They were "slightly abnormal." What does this mean? It could mean she has full blown VLCAD, is a carrier for it, or doesn't have it. So it doesn't tell us anything, really, other than cause me to worry. And while we tried to get more urine from Sammy in the pedi office, she ended up peeing all over the table instead of into the bag. That level of frustration nearly sent me over the edge into tears (Zoloft isn't quite working dependably yet.)  The pedi decided to call the geneticist to see if this urine test even mattered, and it turns out it doesn't much so we were able to skip it. The true diagnosis really hinges on that final genetic test that will say whether she has two copies (full blown VLCAD) one copy (a carrier) or none (neither.) So I'm really not sure why we even did the other tests, but we did and that's all in the past now.

But almost directly after we left the appointment, I got a call from the pediatrician saying the newborn screen test actually had come in and it came back normal. This is the same test that flagged us into this situation to begin with. I seem to think I have read somewhere that false negatives are possible the later out in an infant's life it is taken, but I took it as a small glimmer of hope anyway. So long story short, we have some test results in but are still left to wonder until this genetic screen is back in two weeks. More information, but not much we can do with it.

It's going to be a whole other kind of two week wait. I hope we survive with our sanity in tact.


  1. You're doing great! She's gaining weight and growing. Your hard work is paying off.

    The other: praying for normal test results!

  2. I am thinking of you and little Sammy. I hope you'll get some clarity soon and I hope it will be good news. Hang in there. So glad she's gaining weight!

  3. I'm so happy that her blood test came back normal. And very happy she is fattening up!!!

    --Mindy (mm29)