We're Back!... With Some News...

So I figured I might as well get back into updating Auggie's blog. He's FOUR! I still can't believe how big and smart he is. He's ever so observant and constantly talks. As long as he's not eating (which is still a struggle) or drinking, he's asking questions, commenting about something around him or asking us to play with him.

Drake and Auggie December 2014

"I cut it Mommy"

 Auggie's been enjoying school and day care. We don't hear much about specific kids in his class but he's getting better at telling us what happened throughout the day. For instance, for a while he and his friend were not best friends any more. He was pretty upset about it but then one day, they were best friends again. I wish I could be a fly on the wall while he plays with his friends.

He's still tired on some days when he comes home. I'd be tired, too! He's always moving around and I'm sure since he's with a bunch of his kids his age, he moves even faster. Some days he'll tell me fell asleep on the bus. Thursday he was happy to tell me he didn't fall asleep.

Bowling with Daddy at a birthday party

Happy about bowling

 So onto the news I said I had to get you to click over. (Click Bait, anyone??)

In December, Tim and I finally went to see the geneticist. Well, it was more like the genetic counselor (G.C.). She asked if we needed counseling about Treacher-Collins Syndrome... meaning, she was wondering if we needed to know more information about TCS. HAH! I think we're good. We're well connected through our Facebook groups and we have an excellent support system. I think Tim and I are over Auggie having TCS... and that's been a long time since we've gotten over it! We went through our medical histories again and updated the G.C. on the new additions to the families. Then we had our blood drawn. Well, it took the nurse a few sticks for Tim but we were on our way home after that.

On January 2, I was surprised with a phone call from the G.C.

Our results were in.

It had only taken a couple weeks versus the 4-6 weeks we were told. Tim and I were both negative.... BOTH NEGATIVE!

Meaning Auggie's case of TCS was a random mutation. A RANDOM event.

Of course, I called Tim and told him the news. He was on his way out of town so we talked long enough for me to say "We're negative! We'll talk when you get home. Have fun!"

And cue all the worries, insecurities, "why me's?," how does this happen, what next's, more kids or just leave it with one.... and on and on. at least that was what was going on inside my head. I thought I'd have felt different after hearing the negative results... like felt happy or relieved but I didn't. and I mean, I still don't but I feel better than I did after those first few weeks of thinking about the test results. I keep telling myself under 5% (the odds of having another random mutation of any sort) is better than a 50/50 chance (the odds of passing on TCS if you're a carrier) but it's not really helping.

So yea, that's our big news. I know some people already know- thanks to those that I've vented to... I still have mixed feelings over it hence the reason why I'm waiting almost 2 months after we got the results. I don't want to go into too much detail since this is a public site and all.. but if you have any questions or anything, feel free to contact me. I'm up for discussing things even if I do talk myself into circles every time I talk about this subject.

I'll leave you with some happy pictures of our super happy Little Bear. And, remember, if you want to see any pictures larger, just click them.

Hanging out at rugby practice

Playing with his new toy from Great Grandma and Great Grandpa

Super excited about the race car at Mommy's work

Fell down at Chick-Fil-A (and sporting a new haircut)

Running with Daddy after his rugby game

Showing off his Number 4

Wanted to write it in the pebbles

"Look Mommy! I drew a broken heart!"

Are you frozen yet?

Tuesday morning we headed to Austin... yep- that's right... we drove as the front came through central Texas. Luckily, we left just as the rain was leaving the area but the wind was crazy! We had to be in Austin at 8 am for Auggie's genetics appointment. We left College Station with plenty of time but we ended up being 10 minutes late because of traffic.

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.

1. 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.
2. 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.
3. 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!

Genetic Test Results

The geneticist's office called Wednesday to say Auggie's test results came in and they confirmed Auggie's original diagnosis- He has Treacher-Collins Syndrome. The morning after he was born (hardly 10 hours later), the neonatal nurse spoke with us about what she thought he had. She had worked at Texas Children's Hospital in Houston for 20 years and only saw 3 cases of Treacher-Collins- and all of them were worst case scenarios. From her experience and from his looks, Auggie had a mild case. We have her to thank because she referred us to Dell Children's Hospital in Austin. She contacted them and set up the transfer. We learned so much because of her.

Treacher-Collins Syndrome (TCS) affects the ears, nose and throat areas. In most cases, people with TCS have underdeveloped (or missing) cheekbones, an underdeveloped jaw that could lead to airway constriction, malformed ears, eye problems and cleft palates. In Auggie's case, his ears and jaw were the tale tell sign something was wrong. The 3 cases the neonatal nurse saw at Texas Children's needed to have a tracheotomy at birth because the underdeveloped jaw prevented them from breathing. From what we have heard, about 70% of TCS cases need to have a tracheotomy.

The neonatal nurse in College Station along with the craniofacial surgeon and pediatric ENT doctor in Austin were surprised to see Auggie didn't need a tracheotomy. Not having a tracheotomy now doesn't mean Auggie won't ever need one, though; we're just blessed to not need one now.

There is a lot more detail in what TCS is and how it happens but I know most of our "audience" isn't into the scientific terms so I've tried to explain it how I have understood it. For those of you who would like to read more about TCS, Tim & I recommend these sites:

CCA Kids Fact Sheet
GeneReview- TCS

The news of Auggie having TCS hit us hard, at least I can speak for myself on that note. I still have a hard time talking about it but I'm getting better. Tim has been great with asking all the right questions.. I don't know what I would have done without his great support. I think the reason why it has been so hard is that for ~39 weeks, we were told everything looks great, or your little boy sounds and looks healthy... and even seeing 5 ultrasounds. I remember my OB kind of laughing after one of my visits, saying I wouldn't have a memorable pregnancy because I didn't have anything particular to complain about... Auggie sure did have a memorable first few weeks of life!

I love Auggie with all my heart and I wouldn't ask for anything to be different because I know if it was different, I wouldn't have my perfect little boy.

We'll be scheduling a follow up with the geneticist soon to discuss the test results further. After looking into TCS more, there are several variations of the Syndrome. After we discuss Auggie's test results, Tim & I will be tested to see if it runs in either of our families. We have both discussed TCS with our families and there are no relatives with signs of it- not even any other type of syndrome or birth defects. If one of us is a carrier then we'll have some tough decisions our future regarding more children- the TCS gene is dominant and carriers of it have a 50% chance of passing it onto their children and their children are more likely to clinically have a more severe case than their parents. There are a few options but I guess we'll go through those when we need to.

Auggie in his 1st Christmas outfit

One month old

One month old

All that being said, let us know if you have any questions.

We'd like to thank everyone for all the prayers, good thoughts and well wishes sent our way while we were in the hospital and thank you for continuing to send them. It has been very comforting knowing we have so many people supporting us.