Back story

So here is a little back story...

Last year I found out I was pregnant. It was a planned pregnancy with no complications until 20 weeks, when we were told our baby had severe structural abnormalities, including micronathia (small chin), rocker bottomed feet, overlapping fingers, two heart defects, ambiguous genitalia, fluid filled kidneys and a neural tube defect that presented as a Dandy Walker variant.

The baby died.

Before his death I underwent an amniocentesis, which provided the DNA for three rounds of genetic testing - the FISH, the SNP, and a microarray. We also target tested for Smith Lemli Oplitz Syndrome. All tests came back normal.

Given our lack of family history, the assumption was that the problem was de novo, or a genetic mutation that was new and unique to that baby. We were told that there was no reason we couldn't have a healthy baby.

We tried again and got pregnant immediately, but it was a blighted ovum.

Without missing a beat (or getting a period) I became pregnant with our second child. Now no strangers to genetic issues, we insisted on targeted ultrasounds and every screening available to us. At the 12 week early anatomy scan, we discovered an increased nuchal translucency of 5 - a soft marker for chromosomal problems. Two weeks later we found that the baby had all the problems as his brother, including a severe diaphragmatic hernia (his stomach was in his chest cavity) and cystic hygroma (a big fluid filled cyst on the brain).

The baby died.

Again, all our testing showed no problems with chromosomes...no deletions, no additions, no trisomies, no translocations...

The mystery baffles us all.

Then, miracle of miracles, our insurance company approved an exome sequencing of the second baby's DNA. The autopsy was performed, the DNA was banked. So now, we wait.

The reason I decided to write this blog is because I can find no valuable information about exactly what exome sequencing actually means for families like mine. Sure, you can find information on autosomal recessive and dominant disorders, on chances based on x-linked problems - but there is nothing out there to guide me through this process of exome sequencing. At the end of the day, WHAT DOES IT ALL MEAN? There are no promises made here. Will we get the answers we so desperately want and if we get those answers, what does it mean for our future?

A few blog keeping notes before I start:

* My babies both have names and graves. I will not refer to them by name here in an effort to maintain some privacy.

* I am under the care of some brilliant genetic counselors who are as baffled by this as their peers. They have no answers for me and they talk in their own science language that leaves me Googling for days.

* I am a female of non-advanced maternal age. I have one child (healthy) from a previous relationship. Before this year, I had not experienced a loss.

* I am a science experiment in fertility. I have become pregnant within one month of trying each time I have tried to get pregnant.

* I am heartbroken. I go through this very scientific process with a lot of sadness and emotion. I know that even if the geneticists find the nasty gene that killed my babies, the knowledge won't do me much good. I sincerely hope this blog helps someone like me who wants answers where there are none in a process used so rarely it hasn't been humanized from the science of it all.