24 December 2012

Baby Luke: 48 Hours Old

Baby Luke is 48 hours old.

He seems to be gaining some comfort with nursing, although his NG tube is still in since he seems too tired to eat sometimes. 

Baby Luke with his NG Tube
Cardiology was in for him this morning and it was really awesome to witness 3 cardiologists in one of the best heart hospitals pushed up around his isolette completing and discussing the results of today's Echocardiogram.  Apparently the PDA hasn't closed yet, although its getting smaller... As of now, this will be our barrier to getting out of here as how it closes will give us some real definition around how the heart will need repaired and exactly when we expect the surgery to take place.

Also, we had a disappointing result with his hearing screening... he didn't pass his hearing test for either ear  and will be referred to an audiologist for a comprehensive follow up exam following his discharge to verify his hearing.

Genetics was also in this morning. Our geneticist seems to be hopeful that Luke might have the mosaic form of Trisomy 21 as he doesn't have all of the physical features you'd expect to see in a baby with down syndrome.  Mosaic Trisomy 21 is the rarest form of DS, only occurring in 2%-4% of individuals with the anomaly.  Research has shown that children with mosaicism reach certain motor milestones earlier than children with typical DS, such as crawling and walking alone. However, the speech development was equally delayed in both groups. On average their IQ has been found to be between 10 and 30 points higher than individuals with typical DS.  We won't know the actual results until the karyotype test comes back in 7 to 10 days. (**Update** The karyotype results did come back and Luke doesn't have Mosaic T21, he has full strength T21, although we still don't know if it's nondisjunction or translocation - we should find that out at our next appointment with the genetics team.)

We got a special approval today from the NICU director to allow Matthew in the unit tomorrow for 30 minutes to meet baby brother Luke for the first time on Christmas day.

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