Test Results: The geneticist said Auggie's tests showed an insertion in his DNA profile. That means there's an extra base pair added into the DNA sequence. In a gene there are certain regions that code for development of features and some areas that are filler. In Auggie's case, an extra base pair caused a shift in the function of the proteins that help in the development of Auggie's features. This lead to the abnormal growth of his cheek. The insertion of the extra base pair occurred in exon 23 of TCOF1 gene which is located on the 5th chromosome. Currently there are 50 known mutations and Auggie's is one that has been previously documented. There's no link between type of mutation and the physical characteristics of the person affected. They don't know why it is sometimes worse from parents to children when it is inherited even when the mutation is in the same location.
We also talked about what our options are when we're ready to have more children. Tim & I can both be tested to see if we're carriers of TCS. If one of us is a carrier, then we'll have a 50% chance of passing TCS onto another child. If neither of us are carriers, then our chances are just a little over 2% of passing it on since we already have a child with TCS. Before we talked with the geneticist, we were sure we were going to get tested. The geneticist said she would be surprised if one of us had TCS because of our features. She pointed out Tim's asymmetry of his face (neither one of us know what she's talking about *shrugs*) so she suggested if we do the test then have Tim get tested before I get tested. Since the geneticist was confident about neither one of us having the test done, we decided not to do the test for right now. If we don't get tested, we have a few options for when we want to get pregnant again.
- Amniocentesis/ Chorionic Villus sampling (CVS): Analysis of DNA extracted from fetal cells performed at 15-18 weeks' gestation or 10-12 weeks' gestation, respectively. This won't tell the severity of TCS the child will but only identify the TCOF1 gene. This option would just prepare us for the birth of the baby and not leave us wondering for 9 months.
- Selective in vitro fertilization- Once an egg is fertilized in a lab, it can be tested for the TCOF1 gene. If the test comes back negative, we can choose to implant it. This option is really expensive, though.
- Testing sex cells- Apparently, they can test the egg and sperm individually to see if they are positive for the TCOF1 gene. The geneticist said sometimes there are bad batches of sex cells that can have mutations but the rest can be fine.
So there are a few options for us when we decide we want another child. We do know we'll be waiting a lot longer to have another one so we can deal with everything Auggie needs. We originally planned to have kids close together but things do change! I want to be there for Auggie when he goes through certain stages and it'd be a lot easier if my attention didn't have to be divided.
That's about all we learned from the geneticist appointment. Our opinion of her changed significantly with this visit. Maybe it was because she was sick that we didn't think too highly of her during the first consult... or maybe it was the $660 we were charged for a 20 minute visit where we were given the same exact information we looked up on the internet... thank goodness for Tim's insurance!
Auggie has been doing great this week... He rolled over twice Tuesday morning before we left for Austin! He had rolled over for me once but he got his arm trapped under his body so it wasn't a complete roll. Tuesday morning he rolled over in front of Tim and got both arms out! We are so proud of our little Auggie Bear! He's been getting better at cooing at us and keeping his head up and in control more and more. Some times he sounds like he's crying but if you look, he's just making noise. I am so glad he's found his voice.
|Aussie & Charley snoozing on their mats in the living room|
Wednesday, Auggie & I stayed warm in the house. It was pretty cold outside! We let Aussie & Charley in Tuesday night since it was supposed to be 0 degrees through the night. When Tim left for work in the morning, he let them out. I woke up to Aussie rolling around their water dish. It was still full of water- frozen water! What a lovely introduction to February!
Here are a few pictures I took Wednesday afternoon. The ladies at ECI recommended letting Auggie get used to having things on his head since he'll be wearing his hearing aid head band in a few months. We let him wear a hat most of the evening Tuesday through last night.
And I'll leave you with some good news- Auggie is 12 weeks old today! I'm sure you're looking forward to his 3 month pictures next week! ;) Tomorrow on my 52 Fridays- I'll have a few scapbook layouts to show you, maybe. I'm still debating what I'll be showing you!