A quick history: We got pregnant (planned... and happened very quickly) with our second baby in April 2014, with a due date of January 19, 2015. Everything went according to plan until our 20 week ultrasound in early September 2014. We went to this ultrasound with Jane, ready to see our baby, and fully expecting to be told that "everything was perfectly normal". Needless to say, this is not what happened. We were told that our baby's bones were not developing the way that they should be, and were much shorter than normal. We then had a specialist appointment on 9/9/14. This next email was the first update email that i sent....
For whoever reads this (if anyone), I want to say one major thing. God is faithful. He has proven that to us over and over again on what has been the most difficult thing I have ever done. And I know without a doubt He will continue to prove this. Our story is FAR from over... to Him be the glory.
Friends and Family-
I totally intended to have sent out mass text updates today, much sooner that this, but never do these things go as planned... I am just starting to learn this. Also, there just is more information than seemed appropriate for text. Thank you so so much for all the love and thoughts and prayers sent our way today. This was harder than I had imagined and yet I felt the peace and comfort that you have all prayed over Rob and me. Thank you.
Our appointment was at 930 and we walked out of the hospital at 2. That's a long time, and we are both pretty exhausted. We started the appointment off with 1.5 hrs of ultrasound- which is a long time to lay and look at something and still not have any answers about what was going on. The only fun part of this long ultrasound was seeing that..... we have a BABY BOY!! We did not plan on finding this out, but after so much unknown, and some fear from me about bonding with this baby, I really wanted to know the gender. So exciting! And of course Rob had the sonographer talking to him and calling him "Danger" before it was over :)
After the loooooong ultrasound, we went and sat in a room and waited for our doctor, Kim Fortner, who is a Maternal Fetal Medicine doctor to come and talk to us. I knew just from the ultrasound that the limbs were still very small and abnormal. It was sweet for me to see a face and a perfect brain and heart... but I still felt uneasy. The doctor came in and broke down the ultrasound image by image, discussing everything we saw. Just as before, all of the limbs are measuring way behind where they need to be. The head and abdomen are all measuring appropriately, but the limbs are still lagging. She reinforced the the brain, heart, kidneys, etc all seem to be perfect. So with the skeletal abnormalities, this brings us a broad diagnosis of "Skeletal Dysplasia", which can take on 100's of different forms. The most common form is dwarfism, but this isn't exactly what we are dealing with either. The bones of the arm are both very small and the hands are postured in a way that we can't see fingers well... there are questions about how well those fingers are formed. And the femur (upper leg bone) is also way smaller than it should be. However, the lower leg bones and feet both seem to be normal sized. All this to show, that there is no category or specific diagnosis for what we are looking at right now. There is further genetic testing that can be done and is something we are discussing with these doctors. We had a major roller coaster of emotion just during this appointment... we actually had to go back in for more ultrasound pictures, and the head neonatologist came to consult with us. There was significant concern at first about the formation of the baby's ribs, and it seemed that they may be very short. However, after more pictures, it seems that they are okay right now. As you can imagine, this is terrifying. One minute, Rob and I were discussing and feeling the possibility that our baby may have something that can be fatal, and the next they are telling us it doesn't look like that anymore.... We are thankful for the thoroughness of the doctors and that they called in more experts and went back for more pictures.
This is a lot of information... but I just felt that a text could not sum it up appropriately. We are going back in 4 weeks for another ultrasound, to follow up on bone development and growth.
Until then, continue to pray for us and for this precious baby boy. That we will know peace and contentment despite some really scary circumstances... That we will truly be able to take it one day, one step, one minute at a time. That we will be present with our sweet Jane. That we will support and love one another well, as we all cope and grieve differently.
Thanks for loving us and carrying us through this.
Rob and Lara