29 weeks and DHREAMS

Just 11 weeks left and it has been nice to not have any appointments this week.  Through all my research on CDH I've discovered a group that is doing their own genetic research:  http://www.cdhgenetics.com/  DHREAMS stands for Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science.  Their goal is to find the genetic cause of CDH.  In Isaac's case, we already know the cause, he has a micro-deletion on the 8th chromosome that has been shown to cause CDH.  However, I called them up anyway to see if they would still be interested and they are!  We will be donating Isaac's cord blood for their testing.  They will want to get updates on his progress as well.  Interestingly, Brian and I were tested and neither of us has that micro-deletion, which means it happened "de novo". 

One thing I've been worried about is every time I read about the "worse" prognosis for CDH, it includes something about having a genetic problem.  However, when I asked the geneticist and DHREAMS about this, she said that since the group of babies with any genetic problem is so small, they tend to lump them all together.  Having this micro-deletion is in no way as bad as having a trisomy (like down syndrome, trisomy 21, or Edward's syndrome, trisomy 18), sadly their outcomes are much worse.  However, there just isn't enough testing done yet to really know if this micro-deletion has any real effect on him besides the CDH.  We only discovered it by doing the full micro-array.  If we had stopped at the karyotyping, we would have never known about it.  So it was good to know that just because he has this teeny tiny deletion, he isn't necessarily at a lower survival rate.  We're just still stuck in the, "we have no idea what will happen" zone.  They've only just started doing micro-arrays in the past few years, so there's no way to know how many CDH survivors have the same micro-deletion.  I'm excited to be part of this research and I hope they go on to help babies with CDH and find a way to prevent it. 

I've also been watching some of this series:  http://www.childrensforhope.com/  The write up says:

"This moving six-part docu-series takes you behind hospital doors to share inspiring stories of the doctors, nurses, patients and families at the nationally acclaimed St. Louis Children's Hospital in St. Louis, Missouri.
Embark on six incredible journeys with patients from St. Louis and around the world. Follow them into the operating rooms, waiting rooms and rehabilitation rooms as Washington University Physicians push the frontline forward as much as humanity, science and courage allow."

Some of the episodes show the treatment of a baby with CDH.  Another one shows a teenager that was in a car accident and it was only discovered after a chest x-ray that she had CDH and never knew about it.  It makes you wonder how many people out there have CDH and don't know about it!