What?!

On May 10th we went to our first prenatal doctor's visit.  Our doctor, Dr. Kaelberer, was thrilled for us.  He wasn't able to get a good view of the baby and a definitive measurement so he scheduled a follow up ultrasound for June 10th.  On June 10th we were 14 weeks along.  It should be easy to get a good measurement of the baby.  Plus we were hoping to find out the gender. 

The sonographer spent a lot of time with us.  We heard and saw the heartbeat.  We watched as the baby wiggled and danced.  It was wonderful.  I was completely thrilled to see my little one on the screen.  We went into our room and waited for our doctor to join us.  This would be the first indication of something being not quite right.  After only a couple of questions about my health he asked what the chances were of a recurrence of Campomelic Dysplasia.  I told him 1 in 1000.  Not spectacular odds but certainly not likely.  Besides we already have 2 perfectly healthy children at home.  Dr. Kaelberer explained that there was a thickening on the back of the baby's neck and something might be wrong with the legs.  My elation fell into horror.  Not again!  What Doug hadn't told me was that some of the long bones were already measuring short.  That was the first indication that something was wrong with Elizabeth.  Dr. K looked frightened and wanted us to meet with Maternal-Fetal-Medicine (MFM), the high risk pregnancy unit, as soon as possible.  They scheduled us for the first open appointment -- July 3rd.

Two days later we received a call from MFM.  Dr. K had spoken to the head of MFM, the doctor that had worked with us before Elizabeth's birth, Dr. Nancy Rose.  Dr. Rose was going to come in early the next Monday to squeeze us in!  I was partially thrilled, and very nervous.  Dr. Rose wouldn't be coming in early unless there was something to be concerned about.

On the morning of June 17th we began our incredible journey.  The sonographer spent a large amount of time and even took 4D pictures of the baby.  It was easy for us to see that the baby's femurs (long leg bones) were fragmented and that the legs were twisted.

Dr. Rose came in and lowered the boom.  She showed us how the baby had hydrops, a condition where fluid collects in the body under the skin and other places it shouldn't be.  Hydrops is often an indication of heart defects.  It often accompanies chromosomal abnormalities and diseases like Downs Sydrome, Turner Syndrome and others.  She showed us the thick neck skin.  She showed us the broken bones then told us that she was almost positive that it was Campomelic Dysplasia.  I was too stunned to cry. 

Elizabeth had a mutation on her SOX-9 gene that Johns Hopkins had never seen before.  Our blood was tested to see if were were carriers of that mutation.  We did not have it.  I thought that having another CD baby was virtually impossible.  She informed us that there is a rare thing called gonadal mosaicism.  When this happens the DNA in the individual's blood is different from the blood in the reproductive organs.  Meaning that the DNA Doug or I live with is possibly different from the DNA we give our babies.  What?!

The next step was to get an amniocentesis.  The wrench in the works is that between 14 and 17 weeks is the time that the amniotic sac fuses with the placenta.  An amnio cannot be done until the fusion is complete.  So we scheduled a return visit for June 28th (11 days later).