One in a million....

After quite a few positive days with lots of good progress, yesterday was a bit of a downer.  Before I get into the specifics, let me provide some background since I haven't written about some of this previously.  Austin was born with a few 'features' that led the doctors to think there may be some underlying genetic issues at play.  In addition to the Pierre Robin and cleft palette, his eyes are slightly wide-set,  his nipples are wide-set (closer to his arms than normal), his penis is angled downwards, and his fingers do not extend fully.  Each of these 'features' on their own are not a big deal, but when combined it led to reason for concern. 

Shortly after he was born, a geneticist on staff at TG examined him and decided to order what is called a CGH test.  In my simple terms, this test takes a more detailed look at his DNA than what was previously done with the amniocentesis Jamie had during pregnancy.   FYI, the amnio came back negative for any of the major genetic defects like Downs Syndrome.  So a blood sample was sent up to a lab at Children's in Seattle and it took a little over 2 weeks to get the results back. 

Fast forward to yesterday.  We met with the geneticist in the morning and found out that Austin has a duplication on the long arm of chromosome 1.  The geneticist was only able to find 12 other similar cases in his research.  It is safe to say that Austin's specific situation is very, very rare.  In many of the cases, the patients had congenital heart problems and didn't live long enough to determine what the long term implications are.  Fortunately for Austin, his heart is normal and his abdomenal ultra sounds have been fine.  The most similar case he could find was for a 28 year old woman whose only symptoms were mild cognitive problems. 

There are a great deal of unknowns at this point, but it is likely that Austin will have some cognitive issues.  They could range anywhere from very mild to severe....we just won't know until he gets older.

On a more positive note, Austin is up to 4 lbs, 4 oz. and continues to make great progress on his journey to come home.  He wanted me to tell you all that he appreciates all the love and support.  :)


Until next time,
Pops Yurina