anyone see TLC's born w/o a face???

luvmyfam444

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Apr 4, 2005
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I only saw the last 20 mins or so - how old was this little girl? Did they say what they thought caused the severe birth defects? OF course I'm pregnant & cried through the entire part I saw with the surgery....I hate when I watch these interesting shows like this & then don't know the outcome - of course we won't know with her for 20 yrs! BUt I wish this was after ALL surgeries - 20 yrs later!
 
She has severe Treacher Collins Syndrome, which is a genetic disease. In her case it was a VERY severe case.
 
is that something they test for? so the parents knew (& were prepared for) before she was born or did they say?
 
I think they mentioned how when the ultrasound was done, they only thought the baby had a cleft lip and palate. Then they said how the baby moved around a lot and they thought maybe the ultrasound wasn't very clear. I don't think they knew.

I hate having to see the little girl go through all of these surgeries. :guilty:
 

I haven't read the site above that was mentioned, but like most of these craniofacial birth defects, most of them are just random mutations when they happen in a family for the first time. And, the doctors don't know why it happened in most of the cases. Unfortunately, and this is something we have had to discuss with our own daughter who has a variation of Crouzon's, then there is a 50/50 chance of passing it on the subsquent generations.

The geneticists have gotten to point now where they can pinpoint the affected genes now, but they still don't really have a reason that the mutation occurs.:(
As far as testing, some now can be picked up by gene testing, if the doctors know ahead of time that there is a possibility, but unless the nurse or doctor manages to pick it up on a really good ultrasound, most aren't picked up until birth. In our case we definitely had no idea ahead of time even with an earlier ultrasound that anything had happened.
Kim
 
We saw the first five minutes. My kids wanted to see it, but then were too upset by how that poor baby looked. Were they able to make her look somewhat normal in the end?
 
She was getting a bit better toward the end, but as a parent of a child with a birth defect, that is probably not what most parents of health children would consider better.:) That child is going to have numerous surgeries over the years and it will be a slow process for her. The doctors in the kind of case will take it little by little allowing for her natural growth to work for her and to catch her up. Our own daughter has been through about five main surgeries for her head and face (not including the orthopedic, neurological, and others) over the years. As a matter of fact in her last facial surgery two years ago, we managed to make her breathing a bit better, but we didn't get full distraction of her face. She was wearing the RED system that that child was wearing in the last show surgery, and like her has some problems which necessitated early removal. It did help her breathe better, which was our main goal for her for that surgery. However, she will have to have a final surgery after she is finished with her teen growth. At that time they will probably do the rebuild of her face which may require wiring her mouth shut, but should not only improve on her breathing, but her biting, looks, and overall breathing related problems.
In the case of each child the doctors have to decide just what each surgery should accomplish, and for most people that would actually seem like little. However, in a lot of cases, the little by little method works best for them.
Fortunately for us, our child's face is no where near as bad as that little girl's, and we realize that overall we've been fortunate in her facial surgeries.
Faith's story, up until age 8, she is 16 now, is found at Crouzon.org or Crouzons. org. I never can remember which it is.:)
Kim

Here is the actual page for Faith's story.:) Of course since this was written, her age has doubled and her surgeries as well!

http://www.crouzonsupport.org/faith.html
 


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