Omphalocele (diagnosed 3-12-09)

We will do the best we can to explain what we are facing as we know it now.  We will be learning much more about this abnormality in the coming weeks, so our knowledge might change, but we will continue to update as it happens.  Also, each condition is a little different, so Karsie's case will be unique.

An omphalocele is where many of the baby's organs grow outside of the body inside a "sac" created by the umbilical cord stretching.  The biology of this working correctly is amazing!  The organs develop/are created in the umbilical chord.  Around 10-11 weeks they move into the abdomen and grow into the body.  At some point during this process they rotate 270 degrees in the cord and then go into the abdomen.  Crazy!  At some point Karsie's organs did not go through this process and did not make it back into the abdomen.  Therefore they are growing in the cord.  

The good news about this is that the organs are safe in the sac for now and probably will be until, hopefully, the final process which will be putting everything back inside the body.  The bad news about this abnormality is that it is often associated with genetic problems, almost all of which are fatal.  Therefore, the next few weeks we are going to be figuring out what we're dealing with.  We will be doing many tests to determine if this is genetic or just a freak incident.  

If this is not genetic, then this is a 1 in 10,000 abnormality.  If it is genetic, then it is still a 1 in 100 possibility that this happens.  

Karsie's situation:  On the 12th, our appointment with the doctor from UCLA showed us a little more clearly what we are looking at.  While we saw more, there are still many, many unknowns.  It looks as though Karsie's stomach, liver, and intestines are inside the umbilical "sac."  It looked as though her bladder is where it should be and other vitals, such as heart and lungs are where they should be and functioning normally.  As we say that we are very aware that the possibility exists that we are wrong about that, but for now we are staying positive.  All of the limbs are looking good, and there are no obvious signs of genetic abnormalities as of yet, which is a good sign.  

Next Steps:  We are going to UCLA on Thursday, March 19 to check out the heart a little more closely.  They will be looking for the heart to have four chambers as well as other abnormalities that we do not yet know of.  Following that appointment we will be going in on Tuesday, March 24 to get tested for genetic problems and will meet with a genetic counselor to understand what we are looking at if this happens to be bad news (genetic problems).  We know at this point Michelle will be getting a amniosenticis (where they take a sample from inside the uterus to get amniotic fluid).  They will then grow the chromosomes for a couple of weeks to determine whether or not there are problems.  We will not get word from that for about a month from today.  Those results determine everything we will be planning for.  Please pray very hard that this is not genetic as it will be fatal.

Karsie's First Year:  While we are praying very hard that Karsie will make it to birth, afterwards will be very trying as well.  We're fairly certain that Michelle will have to have a C-section so we do not risk damaging the sac that is protecting Karsie's organs.  We then have some options that we will be weighing for the next 5 months with each other and our doctors.  

There are two common ways to deal with an omphalocele (assuming no other genetic problems).  One is a silo, the other is called paint and wait.  A silo option will require surgery immediately after birth.  The doctors will stretch out the skin and create a plastic container to hold the organs until the skin and muscles are ready to hold them (which will require another surgery later).  The paint and wait option will require no surgery immediately assuming there is no damage to the umbilical sac.  If all is good we will be given a burn cream to apply to Karsie's sac to make it extremely tough.  We then will wait for the skin to naturally cover the sac as it grows.  Once Karsie is ready we will go in for surgery to put the organs in.  This can take up to a year if there are no complications.  

Miracle:  There is still a very small chance that Karsie's organs will begin to file into her belly on their own as the pregnancy progresses, leaving little to no organs outside by the time she is ready for birth.  At this point the omphalocele is extremely big and it doesn't look like this will be the case, but we will be praying for a little miracle still.