The following was written by my wife, Lisa, on May 20. Thought it would be good to share with anyone who might be willing to pray along with us. June 14th can't get here quickly enough!
Thank you so much for all of your encouraging words and prayers. We did get a miracle today, although isn't exactly what I was praying for. Regardless, it is a miracle and I am so thankful! Here's what we found out...The baby has Cystic Hygroma with skin edema. This is not a good diagnosis, but it is better than it could be. The skin edema may or may not turn into the hydrops I mentioned earlier and that is when things get worse. Right now the baby has 5mm of fluid all located right below the skin level all over its body. There is no fluid near organs, which is very good. Baby had a great heartbeat at 167 beats per minute and was very active! YAY!This diagnosis points us toward 4 possible causes.
1) There is a 50% chance it is chromosome related. If we find out that this is the case, the genetic counselor is mainly concerned about it being Turner Syndrome, which is exclusive to baby girls. Turner Syndrome symptoms are that they are very small in stature, they do not ever go through puberty (although this can be hormonally induced) and will not be able to have children. There is some chance of learning disability, but they do have normal IQs so they are very capable of carrying on a normal life. That said, 99% of these babies do not make it to term. Good news… Most don’t even make it to 13 weeks so if this is determined to be the cause, THAT IS OUR MIRACLE!! The next thing on her list is Down Syndrome. Most of us are at least a little bit familiar with that one I think.
2) It could be caused by a structural defect. She would mainly be concerned about heart or kidney issues.
3) It could just be sporadic, with an unknown cause. I asked if the Cystic Hygroma size would be categorized as minimal or a lot and they said it was medium, but it is not too large to hope that it may resolve on its own as the baby grows. Sometimes there can be a blockage somewhere that is causing the fluid to be trapped instead of going where it needs to and there is a chance it could resolve.
4) The last cause could be a “syndrome” like a single gene condition. Because of our clean genetic history they have no idea where to start with this one. There are thousands and thousands of gene issues, but these can’t be explored until the baby is born.
Okay, I know that is a ton of information, but with all of that said here’s what we need to pray for: Any of these conditions are treatable if we can carry the baby to term and deliver. Right now my little goal is to make it to 18 weeks where we can get another good ultrasound and I am considering doing an amnio to see if we can get some kind of direction on what we might truly be looking at. I also ask you to pray that the edema and Cystic Hygroma do not grow. We are looking for it to stay the same or minimize.Don’t get me wrong, things are bad.. but we have HOPE and that is something I was afraid I would walk out without today! This sweet baby has a long road ahead, but we have a fighter and we also have a GOD who can handle all of this!
My next appointment is on June 14th. Praying for a MIRACLE!
