Thursday, December 16, 2010

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.

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