Healthy chromosomes!!

The final results are in and all 23 pairs of Baby Folden's chromosomes are healthy and normal!  Our relief is immense and our resolve even stronger - we will get through this challenge together as a family.  Now we can focus on the gastroschisis diagnosis and put all our effort into learning and preparing for what lies ahead.  We know there will be an extensive stay in the NICU once our baby is born, but this pales in comparison to what could have happened if there was a genetic abnormality found.  Surgery and recovery seem very minor in the big scheme of things.  I begin counting my blessings.  I am so thankful to be going through this experience with my best friend and partner who is my comic relief, my shoulder to cry on, and everything in between.  We will get through this together and have an even stronger bond for it.  I am a naturally positive, optimistic person.  It has been completely foreign to me to feel as depressed and hopeless as I have the last ten days.  It's time to brush myself off and get to work learning as much as I can to help the baby's prognosis.  Taking action is a very welcome thing!

FISH results

I had my cell phone with me at all times today anxiously awaiting the doctor's call regarding our preliminary genetic results.  I finally got the call around 4:30 while I was in a meeting with the President of my company.  Relief washes over me as I hear the technician say the FISH results are normal!!  These results report on chromosomes 13, 18, 21, and the sex chromosomes which account for 95% of all genetic abnormalities.  We are still waiting on the final results of the other 19 chromosome pairs, but we can breathe easier knowing many genetic conditions have been ruled out.  Our first piece of positive news and a huge step forward! 

Amnio day

After receiving the terrible news about our baby's condition 48 hours ago, today I went in for the amniocentesis procedure.  We had a painful hour long wait in the doctor's office during which some other expectant mother, who had obviously just finished smoking a cigarette before coming in the office, tried to make small talk with me about how inconvenient it was for her to get regular progesterone shots to help prevent preterm birth.  You want to know what will help prevent preterm birth - stop smoking cigarettes you disgusting, selfish woman!  As I have done so many times in the last few days, I wonder why my child developed this condition when I have been as healthy as possible.  I know I will never have a concrete answer, but the question still nags at me.  The cause of gastroschisis is not known, although many cases involve young mothers and women who smoke cigarettes or use cocaine (these are thought to interfere with blood supply to the developing tissue).  None of these apply to me.  I have to remember that billions of things have to take place in perfect sequence to produce a healthy child, it is literally a miracle that the vast majority of the time things go as planned.  Only 1 in 10,000 babies develop gastroschisis and unfortunately we are in the tiny minority.  I am finally called back to have an obnoxiously long needle jabbed in my uterus and 20 mL of amniotic fluid withdrawn.  We have to wait an excruciating five days to receive the preliminary results (FISH results) and ten days to receive the complete analysis.  So the incredibly difficult wait begins...

News no parent wants to hear

We received devastating news at our 18 week ultrasound today.  David and I were so upbeat and eagerly anticipating news of the baby's gender, unfortunately the news it is a boy was completely overshadowed by the unfortunate diagnosis we received.  Our son has a relatively rare condition called gastroschisis.  This is a type of abdominal wall defect where the abdomen fails to close leaving a small hole that allows internal organs to be outside the baby's body floating in the amniotic fluid.  There is a range of severity for the condition which cannot be fully known until the baby is born.  The doctor told us he also has multiple choroid plexus cysts which are cysts in the part of the brain responsible for producing cerebrospinal fluid.  I really couldn't take in any more information past the gastroschisis diagnosis so all I remember is that choroid plexus cysts are relatively common (1-2% of all pregnancies) and will most likely resolve on their own before the baby is born.  Because the baby has two structural defects, the doctor is concerned a genetic abnormality is involved and highly recommended I have an amniocentesis to provide us with definitive information about chromosomal integrity.  The phrase the doctor used, "incompatible with life" keeps repeating over and over in my head.  This can't be possible!  Our struggle was about getting pregnant, I assumed that once we got past that challenge everything was going to be fine.  Smiles and laughter have been replaced with tears and silence in our household.  The helplessness and despair we feel is indescribable.