[Faline]

Treacher-Collins syndrome (TCS), also known as Treacher-Collins–Franceschetti syndrome, or mandibulofacial dysostosis is a rare autosomal dominant congenital disorder characterized by craniofacial deformities, such as absent cheekbones. Treacher Collins syndrome is found in about 1 in 10,000 births. In a number of cases a genetic origin is described. The typical physical features include downward slanting eyes, micrognathia (a small lower jaw), conductive hearing loss, underdeveloped zygoma, drooping part of the lateral lower eyelids, and malformed or absent ears.


Told By the girls mother:

Juliana was born in March of 2003. Her pregnancy was "normal" in the beginning. At our first ultrasound, her stomach could not be found. We were brought back two weeks later for another one, when she was a little larger. Still her stomach was not seen.

We were sent to a larger hospital, where at about 24 weeks, during another ultrasound, the doctor came in to have a look and told us that he was going to do an amniocentesis. But he did not feel that whatever was happening with Juliana would show on it. He then told us that we needed to make a decision as to whether or not we were going to continue the pregnancy. Thom and I looked at each other, then quickly back at the doctor. We both said there was no decision to be made. This is our child no matter what.

The next several months were filled with many prayers, many unknown answers, and many sleepless nights. We were able to see Juliana grow and continue to develop by way of weekly ultrasounds, starting at about 30 weeks. At 38 weeks she was finally ready to meet the world. The hospital staff did a fantastic job preparing for the unknown. During her delivery the operating room where she was born was full of nurses, obstetricians, neonatologists, respiratory therapists, anesthesiologists, and many more.

Juliana's birth was a very traumatic delivery and I was hemorrhaging afterward. While one team worked to save my life, another team worked to save Juliana's. I was briefly able to get a glimpse of her as they rushed her past to the NICU, where she spent the first 16 days of her life.

She had her first surgery when she five days old, to insert a trach tube and a feeding tube. Through much research on Thom's part, while I was recovering in the hospital, we found Dr. Wolfe in Miami. He is a world renowned craniofacial surgeon and came highly recommended from different surgeons around the country. We traveled to Miami in late March and Juliana began her craniofacial surgeries with Dr. Wolfe on April 1.

The first 18 months of her life were very difficult on all of us. She had many respiratory infections (RSV and pneumonia). We also continued to push ahead with her surgeries. With most of the surgeries came complications during recovery. As parents we heard some of the scariest words of our lives: "She may not survive this." We heard these words more than one time. And each time we went to our knees and prayed. Each time God had a bigger plan for Juliana.

Juliana has endured 21 trips to the operating room. She has had everything from simple procedures, like inserting a Port-A-Cath, to major intracranial operations.

Juliana will eventually make her own decisions about continuing on with surgeries. At this point we are not doing cosmetic surgery. We are doing surgeries which will enable her to function without a trach or feeding tube.

Our ultimate goal for Juliana is for her to be happy with who she is. She will be able to achieve any goal which she sets for herself or any obstacles put before her. We have no doubt that she can achieve this because she is so incredibly intelligent.

When she was born:




Through the years:





Most recent picture:

[mart_knip]

I was exactly watching this clip this morning about this young girl!!!!
Crazy stuff but she is strong 30 something surgery!!!

Great post Kel...

[collaredgirl65]

Awesome post and awesome little girl.

[Viking64]

I just read every word and was quite moved. Some people may say she is ugly. While it's true she does not have a nice face, she has the most precious gift ever given to mankind.

Great story, Kel!!!

[lilbuzzkill]

Saw this on tv .. made me cry a little and appreciate my healthy kids more.

[Airbornemama]

WOW......amazing how the human spirit can endure!!prop's to baby girl!!She is a true fighter!!!nice post Kelly!!!

[XZER0]

i feel sorry for the girl

[smkgreen]

if i saw that in public i would fucking scream an run

[freakydeeky]

Wow. wow.

[Karma]

Good post Kelly. I watched the documentary on Julianna several years ago. It's interesting to see what she looks like in that most recent photo. I think the parents are amazing. I am honestly not sure that I would have had their courage and strength to keep that baby.
I might have, but I don't know for sure.