Our journey through a prenatal Trisomy 21 (Down syndrome) diagnosis and beyond

I wish it were possible to recognize at the beginning of our life’s story what an incredible journey we are truly on. If so, I would have sat down years ago and begun documenting all the ordinary and extraordinary events in this amazing life I have been blessed with. Sometimes, though, it may take just one more thing to open your eyes into the beauty of the life you have led and causes you to pause and truly count the blessings that are now so many they will never be enumerated.

If you are just joining us, please go back to September 2012 to get caught up.

Friday, January 25, 2013

"Who told you that?"

It's been a bit, but things are still going well here. No news is good news, I suppose!

Owen is doing great.  Typical baby stuff-- eat, sleep, poop.  (Not always in that order, though.  He really prefers to poop while eating!)

The issue we are dealing with right now for him is hearing.  He has such tiny little ear canals that they are struggling to get a good hearing screen in.  He has failed the hearing screen 3 times now.  Today we took him to the ENT to determine whether he had some fluid in his ears.  He will get a diagnostic hearing test at the beginning of February, so we are hoping for some answers then.  Praying that it tells us one way or another (not a middle ground of "some" hearing loss).

Anyway, while we were at the ENT he asked what other questions we had and we asked if there was anything special we needed to do because of his absent nasal bone. 

The ENT's answer, as he squished O's little nose around a bit, "Who told you that?"  We explained about the ultrasound and that being the initial marker that led us to his diagnosis. 

Who says I don't have a nasal bone?
He said to forget about that.  He has a nasal bone.

Hilarious!  I thought he and Colton have the same nose, so I wondered the other day if Colton didn't have one either. 

Oy. Vey.

So to sum up our ultrasounds vs. Owen's reality:
  • No nasal bone present in ultrasound ---- He has a nasal bone
  • Dilated kidneys seen at 24 weeks ---- Kidneys are just fine
  • Pericardial effusion (fluid around the heart), which ultimately led to inducing him ---- no fluid seen by cardiologist while performing the echo on O after birth
  •  Thickened heart wall seen on ultrasound ---- heart wall is thickened still

Reminder for mom:
  • Medical science is not perfect.

This also really gets me going more on the topic of termination.  But I don't have the energy to focus on that right now.  All I can say is that SO many people make the decision to terminate based on the T21 diagnosis and a marker or 2 from the ultrasounds.  Clearly, this is not an exact science (as much as we would like it to be) and it makes me incredibly sad that so many babies are aborted, potentially, based on inaccurate tests.  I know this can be a hot-button topic, but walking the path we are, I feel a bit obligated to share my thoughts.  Hey, if it caused one parent to pause about a life-altering decision-it will be worth it.


  1. OMG this brought tears to my eyes! What a great God! So amazing he has has his nasal bone! :) go Owen and go God!


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