I’m back in the Saddle Again!

No!  I’m not trying to have another baby right now!  Are you crazy!?!  I lost Rachel only 3 months ago!  I’m talking about racing.  Last Saturday, April 17th, I rant he Garden City Race for a Cure 5K.  It was such a different feel from all the other races I’ve done in NYC.  This was my first small town race and non-NYRR race (not counting the World Vision 5K).  It was so nice to wake up at 7am (instead of 5am), get in my car (instead of walk to the subway) and drive for 35 minutes (instead of ride the train for 1-2 hours) to run for under half an hour.  In January, I made a goal for myself to run more non-NYRR races (in NYC that means, races in Long Island).  I was getting tired of the large crowds (2,000-5,000) and wanted to experience a more small town, local feel.  Besides the moments of disorganization from the race directors, I had so much fun, I even stayed to watch the awards ceremony! I’ve never done that with NYRR!  There were just under 300 runners.  The course was flat and fast and I was excited to actually race a race (something I hadn’t done in almost a year).  Mile 1 was great….had a medium to difficult effort.  My split was shouted out by someone on the street with a stopwatch, “7:34!”  Mile 2 was tougher, I was trying to keep my pace and started to feel fatigue set in.  I was doubting if I could keep up this pace, but quickly erased from my mind and kept pushing it harder.  The split times via stopwatch at Mile 2 was, “13:33!”  Could that really be?  I did a 6 minute mile?  That’s got to be off.    I round a few more corners pushing harder to keep my pace up.  I reached the final stretch of the course, could see the finish line in the distance and felt the wind start to blow against me.  I pushed even harder to fight it.  I’m sure glad that the last mile of my training route is uphill against the wind.  That practice paid off!  I crossed the finish line in 20:26.  What that heck!?!  That’s not possible!  I soon found out that the course was changed last minute and ended up being short (2.8 miles instead of 3.1).  When results were posted I was really proud of myself!  I finished 89th overall and 6th in my age group!  I did the math afterward to determine was my time would be at the actual 5K distance: 22:25.  A new PR!  I’m back!

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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.