When Eliza and her husband found out they were expecting their first child, they were over the moon. Their joy wouldn’t last, however, because when their precious baby girl was born, there was something wrong. Their little bundle of joy had a condition called Treacher Collins Syndrome. This is their story.
Our Journey With Treacher Collins Syndrome
Eliza describes her pregnancy as “amazing and easy”. At first, her pregnancy was considered high risk because her doctors thought she had a heart-shaped uterus, but they later realized that wasn’t the case. She was 35 and had monthly ultrasounds. Everything was progressing well. (1)
The delivery, however, was challenging. She labored for 12 hours before with many specialists in the room helping. Finally, little Bella was born. Rather than filling the room with congratulations, however, everyone was silent. Eliza knew that something was wrong.
“I was smiling and anxiously waiting to hold my baby when I realized something was not right. ‘Why isn’t anyone congratulating me? Why is my husband so confused and scared? Why can’t my mom look at me? Why did my doctor step out? Why are all these other people coming into my room?’ My room was silent. No one said a word. The silence tore me apart, it broke me, shattered my heart. I broke down, shaking, scared, confused, and lost.” she wrote of the experience.
Finally, she got a glimpse of her new baby – immediately, she realized her sweet little girl looked “different”. She was terrified, confused, and had a lot of questions. Her parents were doing their best to assuage her nerves, but it wasn’t working. The doctors whisked their baby off to the NICU, only to later confirm that she had what is called Treacher Collins Syndrome.
What Is Treacher Collins Syndrome?
Treacher Collins Syndrome is a condition that affects the development of the bones and other tissues of the face. The signs and symptoms vary greatly. It can be nearly unnoticeable to quite severe. It is extremely difficult to identify in ultrasound and therefore doctors usually diagnose it at birth. (2)
Most often these babies are born with underdeveloped facial bones, usually the cheeks and a very small jaw and chin. Other issues may be (3):
- Cleft palate
- Hearing problems
- Eye abnormalities
- Downward slant of the outer corners of the eyes
- Drooping upper eyelids
- Notches in the lower eyelids with few, if any, lower lid eyelashes
- Small cheekbones
- Smal mandible (lower jaw) causing an overbite (the chin and lower teeth sit back from the upper teeth)
- Fewer teeth than usual; they may be crooked and have patchy coloring
- Hearing loss because sound is poorly transferred by the tiny bones in the middle ear
- Small, unusually shaped ears
- Small or missing ear openings
Because of their underdeveloped facial bones, babies with Treacher Collins can often suffer from what can be life-threatening breathing problems. The condition has no effect on the brain, so people with the syndrome have no issues with cognitive function or general intelligence.
How Does It Happen?
Treacher Collins Syndrome is caused by a mutation of specific genes. With two of the types of genes, children inherit it from their parents. About 60% of cases, however, are not genetic. In some cases, the doctors still do not know what caused the mutation.
Many of these children require several surgeries so that they can breathe and function properly. Many of them have between 20 and 60 surgeries when they are still very young. Unfortunately, there is no way to really detect it in the womb, and currently no cure.
For Eliza and her family, learning to be parents and nurses to their baby girl has been quite the journey. They also know that this journey is only just beginning. They are well aware that life will not be easy for their precious little girl. Teasing, bullying, and discrimination are just some of the things that children with Treacher Collins Syndrome have to put up with.
If you’re wondering why this seems familiar, it may be because you saw the movie Wonder with Owen Wilson and Julia Roberts. The movie is about their son Auggie (played by Jacob Tremblay), who is a very normal boy – except that he has Treacher Collins Syndrome. In the movie, we see how Auggie has to put up with terrible bullying. All children with this syndrome want is for people to be kind and to treat them like everyone else. (4)
“Our journey is different, our normal is different, but I wouldn’t change it for anything. This entire experience has taught me so much as a mother, sister, wife, friend, and acquaintance.” writes Eliza.
Just like the movie (and book) Wonder, their message – along with every person with Treacher Collins Syndrome and their parents, is to be kind.
- “‘Why isn’t anyone congratulating me? Sadly, my daughter’s arrival wasn’t celebrated.’: Woman gives birth to baby with Treacher Collins Syndrome, ‘Our normal is different, but I wouldn’t change it for anything’” LoveWhatMatters. No date.
- “Treacher Collins syndrome” NIH/GARD.
- “Treacher Collins Syndrome” KidsHealth. August 2019.
- “Living the Movie Wonder: How 13-Year-Old Nathaniel Found Freedom, Inspires Kindness” Seattle Childrens Hospital. November 17, 2017.