"O" BABY
I really didn't plan to start a blog about my pregnancy with our baby UNO, nicknamed that because he/she was originally one of two when we first found out we were pregnant. We are currently 13 weeks along, and this pregnancy has taken some twists and turns, so we will do our best to keep our friends and family updated on what is going on with little UNO.
UNO has an abdominal wall defect; the radiologists think it is an omphalocele. This is a pretty serious thing to find on ultrasound. I, personally, have only seen two cases, and 2 cases of another wall defect called gastroschisis, in seven years. Omphaloceles are where the baby's abdominal contents are herniated into the base of the umbilical cord through an opening that failed to close in the abdominal wall before 12 weeks. It CAN be an isolated finding, but it is associated with chromosomal abnormalities in 30-50% of cases, and other congenital defects in 50% of cases (cardiac defects are the most common, but the list goes on).
The BEST case scenario for us at this point is that UNO will be delivered a little early and whisked away to surgery at delivery to try to close the defect, and will have just a two week stay in NICU. Sometimes hospital stays are much longer. They can do this if it is small enough, which so far UNOs is fairly small (bowel only), and no other more major surgeries need to be taken care of first (ie, heart). If there are other more major complications present (ie heart defects) or if the omphalocele gets too big (containing more than bowel, like stomach and liver), then we may have to "paint and wait" the omphalocele so that it can be surgically repaired at a later time, giving the skin and abdominal muscles time to grow big enough to cover the area. Most babies who have isolated omphaloceles that are surgically repaired grow up to be normal, healthy, happy babies with tummy scars. We are hoping that is UNO.
Worse case scenarios are many and can be complex. There are many associated syndromes, but we are just taking it one step at a time. I had a new blood test done today that has a 99% accuracy rate for detecting T21 (Down's Syndrome), T18 (most of these babies have a score of abnormalities, including severe mental disability, and often die in utero; there is a 10% survival rate up to 1 year; overall, it is often a fatal abnormality), and T13 (severe fatal abnormality; babies die in utero or within hours of birth). I am hoping to have the results back by next Friday, but that would be the earliest. We might be in for a long week.
There is also something called Beckwith Wiedemann that is associated with omphaloceles, but it is very rare (10%), usually not lethal, but has a number of associated abnormalities ranging from mild to severe. There is a test we can have done for that, but it is only 80% accurate. Some markers can show up on ultrasound later, but most times the diagnosis is made after a child is born.
Between 16-18 weeks, we will have an amniocentesis to confirm the diagnosis of T21, 18, or 13, or to pick up whatever extra information we can if my blood test from today comes back negative. If these tests are all negative, then we will just have to wait until the anatomy scan around 18-22 weeks and a fetal echocardiogram (not sure when) to see if we can pick up on any other abnormalities of the heart or other. We are hoping so hard that it is just an isolated omphalocele. There is a possiblity that UNO has something called gastroschesis instead, which is where the intestines are not covered by the memberane around the base of the umbilical cord, but floating outside of the body through a hole adjacent to the cord. Right now, it is a little difficult to tell, because UNO is so small, but multiple radiologists I work with think it is most likely the omphalocele. If it is gastroschesis, it is usually an isolated abnormality without chromosomal abnormalities, and if babies make it to birth without the bowel being damaged too much, survival is in the 90th percentile. It is just a matter of how much bowel is exposed to the amniotic fluid and if there is too much twisting/kinking of it. If it's not much, babies can have surgery the same day as delivery and may only spend a couple weeks to a few months in NICU. Sometimes the surgery has to be postponed a while. These babies also grow to be overall happy, healthy kids, but can have some long term digestive tract issues, as you can imagine.
WARNING, please do not just google omphalocele or gastroschesis and read the stats and look at the pictures!!! It will freak you out. The best thing to do is google "omphalocele blog" and look at the stories of other families having "O" babies and recorded their them on individual blogs. There are stories from diagnosis to delivery to surgery to life after. Pics are still scary but very encouraging when you see the "after" pics and see how amazing these kids and their families are doing. There are the bad stories out there too, but we have to just hope for the best and deal with one thing at a time. What will be, will be. We are grieving not having a "normal" and "healthy" baby, early parenting process, etc, but we'll be okay. We are talking it out together and being really honest with our feelings, so don't worry about us. We will keep you posted on what we know when we know it.
So that's what I know. We're sad, but we're okay.
