Wednesday, February 15, 2012

Updates - Good and Bad News and Some Hope!

I should have been updating more often, but I just haven't had the time.

On February 6th, my husband and I went back to Dr. Rodriguez, the perinatologist and she did another ultrasound. Dr. Trimmer, her associate also took a look at everything. He said he didn't see anything new other than perhaps a tad of scoliosis (which at this point is like telling me she has a paper cut!) and that he was pretty convinced the kidneys were not working. There seems to be limited blood flow around the kidneys and he couldn't find the bladder. Thankfully, at the last two or three ultrasounds I know for sure they were seeing the bladder, so I'm hoping that little Lucy had just recently emptied hers and that's why he couldn't see it. He looked at the heart for a while and told us it looked fine, just displaced. Also, the stomach is still the only organ they can see in the chest cavity. We were able to see diaphragm on the right side for sure! So, at least we know there is tissue there for them to work with.

On February 9th, I went to Dallas. to see Dr. Kao, the pediatric cardiologist. Her tech looked at the heart for a long time and then I met with Dr. Kao. After getting such a positive outlook from Dr. Trimmer, I was really hoping for the best, but she said Lucy has Tetralogy of Fallot, which involved four different problems with the heart, the main being a hole between two of the chambers which allows non-oxygenated blood to mix with oxygenated blood. She said that sometime soon after birth she could require a shunt to send more oxygenated blood to the lungs, or she might be ok without it, but that a full repair would be done at 6 months. Wow, another major issue.

The next morning I had a call from Dr. Rodriguez asking me to come in the same day at 1:00. I left school early and headed over. Since it was such short notice I had to go alone, but sometimes it seems easier to get bad news that way. I definitely cry less when people aren't being overly nice to me, so I figured it would be fine to go. I could have waited until Monday, but facing a weekend of wondering what the amnio results were was unthinkable. So, I headed in. Dr. Rodriguez told me we definitely had a little girl!!! Then she said she had to get out textbooks and go online and research because she couldn't remember all of what was involved with my baby girl's diagnosis. She has Mosaic Trisomy 16, which is extremely rare. Full Trisomy 16 is the number 1 cause of 1st trimester miscarriages and is very incompatible with life. The Mosaic form, on the other hand, can produce children with little or no major problems. Lucy, unfortunately, has most of the major problems that can come with this Mosaic. Dr. Rodriguez said it was like Lucy read the chapter because she has all of the symptoms: IUGR, thick placenta, CDH, tetralogy of fallot, and kidney abnormalities. She may also have an imperforate anus, which we won't find out about until birth (please pray that she doesn't!). She doesn't seem to have club feet at this point, which is another symptom.

So, in short, Lucy has several major issues that we are going to face at birth. Also, we will most likely be delivery mid- to late May instead of June 23rd because of the abnormal placenta. I also have a 1 in 4 chance of developing pre-eclampsia. Despite all of this, I really couldn't have been happier to have heard her diagnosis of Mosaic Trisomy 16. It means there is still hope for our little Lucy. If they had told us Trisomy 18 or 13, we would have known that we could for sure expect her death sometime soon before or after birth, but with this diagnosis, we will just have to wait and see, keep praying and keep hoping!

I will start to go in to get growth scans every two weeks, which I wish there wasn't a reason for, but since I have to do it, I must say it will be nice to see my little one so often. Please keep us in your prayers!

Here's my verse for this post:

Romans 5:3-5
"Not only so, but we also glory in our sufferings, because we know that suffering produces perseverance; perseverance, character; and character, hope. And hope does not put us to shame, because God's love has been poured out into our hearts through the Holy Spirit, who has been given to us."

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