Hello Enoch! Goodbye expectations!

I am so excited to get started on this blog! I will try to keep it brief but informative. We wanted to create a blog to keep people updated on Enoch’s condition(s) without overloading Facebook. So quickly (because it is late) here is our brief history of Enoch’s life.

May 22

At our 19 week ultrasound everything started out great, but our poor technician went from being very talkative and excited to very quiet. She forgot to tell us the gender until we asked after she said she was finished. She then told us the doctor would need to see us in one of their consultation rooms. We have found that meeting in consultation rooms are not a good sign for us. The doctor told us that there was something wrong with out baby’s brain. It appeared that the ventricles in his brain were bigger then they should be. The doctor said there was a “non 0% chance it was nothing” and, we left with the idea that if there was something wrong it could be fixed with a surgery after our baby boy was born. We were upset about it, and honestly we were nervous that it would mean some developmental delays or handicaps. It is so funny how your worst case scenario can become your best case scenario in a week.  We scheduled an MRI for the next week and looked up treatments for different things.

May 28

The MRI was uneventful and the tech said she was able to get a couple of good pictures. My sister went with me and even though I ended up crying in the lobby it wasn’t so bad. We had a meeting with out genetic counselor set up for the next day and were told he would go over the results with us.

May 29

This was a bad day. A really bad day. When we got the news that not only was Enoch never going to get better, but his diagnosis was fatal I was in shock. Honestly I think anyone would be because how often are you told that there is nothing anyone can do to save your child. I don’t remember much else, but I do remember our genetic counselor (Eric, who is great by the way) being very sympathetic and honest. We really appreciated that he didn’t try to sugar coat outcomes to us. Eric said that holoprosencephaly is a rare enough problem that no one could tell us what we could expect beyond severe mental and physical handicaps and a shortened life span and possibly stillbirth.  He strongly recommended we do an amniocentesis to make sure his condition wasn’t related to any chromosomal abnormalities. To say we were devastated would be an understatement.

June 2

We had the amnio. It wasn’t as bad as I thought it would be and Sam’s Mom came out to be with us (which was much appreciated) and we went on with life.

June 4

We got a call from our OB and the tests for Trisomy 13, 18, and 21 all came back negative! It didn’t change the fact that the diagnosis is fatal, but it did mean that he has a better chance of making it to term and living for a little while.

June 16

We got the news that the results were back and all of his chromosomes look great! We are moving onto the microarray to look at his DNA. The microarray will check to see if there are any duplications or deletions in his DNA that caused the holoprosencephaly. The test will also tell us if one of us carry the mutation, and so there would be a chance (25-50%) any future children would also develop holoprosencephaly.

Now you are totally up to date on our life! We have another ultrasound scheduled for this week. They want to monitor Enoch’s development at least every four weeks from now on to see how his brain and organs develop.

We’ll let you know how it goes!