Friday, May 16, 2014

Echogenic Intracardiac Focus, Duodenal Atresia, and Bears, Oh My!

Betty's 32 weeks preggers right now.  From our first ultrasound we knew that the baby had what's called an Echogenic Intracardiac Focus, or EIF for short.  This is just a bright spot that appears inside the baby's heart chambers when viewed via ultrasound, which doesn't make it sound too bad.  EIFs are pretty common, but they are a soft sign for Down Syndrome as well as possibly other chromosomal abnormalities.

And for about the past 10 weeks we've known that Betty's been carrying around extra amniotic fluid. This has made her physically uncomfortable, and this along with the EIF had us concerned that something may be wrong with the baby.  Of course, the extra amniotic fluid could have just been the result of gestational diabetes, which Betty has had with all three kids. 

The good thing about the EIF plus the extra amniotic fluid is that Betty has had several ultrasounds so the doctors could continue to check on the baby.  If not for this, we would not have caught a new issue with the baby:  duodenal atresia.

Duodenal atresia, aka intestinal atresia, is where the stomach isn't connected to the intestines.  On the ultrasound it looks like there are two bubbles separated by a wall of tissue, which is known as the "Double Bubble."  Duodenal atresia occurs in about 1 out of every 10K births.  I like to think that we're 1 of 1K that actually caught it before the baby was born, so we have a chance to meet with the doctors, get mentally prepared, etc.

I consider us very lucky that we were able to catch this before the baby is born.  Even better, there's a procedure that will fix this.  A day or two after the baby is born, a pediatric surgeon will do a procedure to connect the stomach to the intestines, and then the baby will need to stay in the hospital for 3-4 weeks.  We're disappointed that the baby will be in the hospital for a month after being born, but are happy that we live literally 3 minutes from the hospital and that I work about 5 minutes away so we can see the baby often.

We also knew from consulting with our doctor that our baby had at least a 1% chance of having Down Syndrome due to the EIF.  The duodenal atresia raised this risk to be 33%.  We were on the fence about whether we should test for Down Syndrome, but we decided to take a non-invasive test called MaterniT21 a few weeks ago.  Older tests would have to actually puncture the mother's womb and then take a sample of the baby's blood by pricking the baby, but the MaterniT21 test was able to detect and sample the baby's chromosomes in Betty's bloodstream, so all that was needed was for Betty to have some blood drawn.

Our MaterniT21 test came back negative, meaning the baby doesn't appear to have Down Syndrome.  The test is estimated to have a detection rate of 99.1% for Down Syndrome, so there still is a chance that our baby could have Down Syndrome, but we'll take our odds.

Waiting for the MaterniT21 test was an emotional experience.  Betty and I know that we would love our child regardless of if it had Down Syndrome or any abnormality, but as a parent you always want the best possible life for your child.  I thought of how to make sure I accomplished this goal, and also how to make sure that he or she didn't miss anything.  I thought about school, girlfriends, prom, driving, hobbies, baseball games, video games, on and on.  I thought of the other health risks associated with Down Syndrome.  I also thought of how I would react if another kid made fun of my child.  My thoughts ranged from beating that kid and/or his parents up, to inviting that family over for dinner to let the kids play and learn from each other.  That experience really made me do some soul-searching, and I hope I'm a better person for it.  (Note that if you make fun of my children, I probably still will physically attack you although I'll feel bad about it later.)

In the midst of all of this, our family and friends have been wonderful.  Betty's friends in particular have been amazing.  They knew that she is extremely uncomfortable with all the extra amniotic fluid, so they've set up a food calendar and have been taking turns bringing us food.  I can't thank them enough - not only has the food been such a huge help, but they've also taught me a lot about how to be a good friend when someone is in need.  Betty's friends are also all apparently really good cooks!

I'd also like to thank everyone who has been praying for us, as well as those who have been putting us on prayer lines throughout the country.  I honestly didn't know that prayer lines existed before now.  All I can say is:  your prayers are working!

In some ways I feel guilty about us receiving those prayers.  I feel like there are so many people out there with much bigger problems.  But we're thankful for people thinking about us and for taking the time to pray for us or to go out of their way to bring us food.  We're also more aware of other people out their who need help, and have been sending our thoughts their way.  We hope that people are as kind and loving to you as our family and friends have been to us.

One thing we can say about Baby Tanory already:  he or she is bringing people together.  Thank you again for everyone's support - we very much appreciate you!

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