Genetic Jargon

Yesterday was a day of peace for us.  Dr. Bialer, our Geneticist, called with the results on the "Lee Family genes."  Dr. Bialer was able to confirm that Rachel did in fact have Uni-parental Disomy, paternal, 14 (pat UPD 14).  What does this mean?  It means that Rachel received 2 #14 chromosomes for Ping and none from me.  Research suggests that what initially happens is that a trisomy occurs (2 chromosomes of Ping's and one of mine), the embryo tries to correct itself, but ends up getting rid of the wrong chromosome, thus ending up with both of Ping's and none of mine.  Pat UPD 14 is extremely rare, there are only about a dozen recorded cases in the world.  Most of these cases are translocation or mosaic UPD14.  This means that the broken chromosome has reattached to another chromosome such as #13 or #15.  We know that Rachel did not have translocation or mosaic as her chromosome count was normal.  This makes her case even more rare.  We were told that UPD14 does have a high miscarriage rate. However, Dr. Bialer cannot confirm that this was the cause of my preterm labor.  We have to take into account that her heart muscles were week and her kidneys stopped working.  Why?  We will never know the answer to that.  The good news....the recurrence rate for UPD 14 is extremely low.  Our chances of conceiving another child with this genetic disorder is slim to none.  This statistic doesn't put my heart at ease though.  The rare happened to us, and that makes the rare a reality.

More Photos

Just to let you all know, I added more photos to my album from the race.  The photos are courtesy of Jennifer Chung, Sunny's mom.  Thank you Jennifer!  You can view them by clicking on "view my gallery" to the right.

World Vision 13.1 Race

Yesterday, I took part in the Inaugural 13.1 Marathon and 5K benefiting World Vision.  It took place in Flushing Meadows Corona Park- a nice flat and fast course.  Due to my previous heel injury, I dropped from the half marathon to the 5K  Sunny, who is in middle school from church, and Stan signed up for the 5K as well.  This was Sunny's first race. Sunny just started running and had not trained well.  We walked a majority of the race. Per doctor's orders, I was not allowed to run the race for time, so I stuck with her to keep her company.  Kat, Philip, Tracy and Veronica all ran the half marathon.  This was Philip and Veronica's first attempts at this distance.  The weather was nice and sunny. Audrey, a friend of mine ran the half with my timing chip (I was not able to use it in the 5K) and got me a PR of 1:51!  I really hope I can run that time someday soon.  Audrey wore her shirt in memorial of Liz Duncan.  Liz is a friend of ours who was struck by a car and killed while running in April of 2007.  Liz's memorial race took place yesterday as well in Washington State. Ellen ran the half marathon too.  She finished with a PR of 2:06!  Ellen, her boyfriend Charlie, Ping and I all got together afterward for lunch.  Given it's first year of this race, it was well organized and I would definitely do it again.  Here is a picture of Stan, Veronica, Sunny and Philip before the start.  You can view more pictures here.