The Extraordinary Hunt- Treacher Collins Syndrome
On November 1, 2020 Hunter was born as perfect as can be! We were surprised to see that he was born with brown hair and weighed more than Jackson did! That’s not the only surprising features he had! He was born with different shaped ears, a small chin and what looked like dents next to his eyes! We were honestly so smitten to have our little boy here with us that we didn’t notice these were features to be concerned about, that maybe he just looked very different from his brother. 
The next evening a nurse came into our hospital room sometime in the middle of the night when I could barely keep an eye open. She stood next to me telling me that Hunter needed to do his newborn hearing test. She explained he needed to reach a certain level to pass. For 30 minutes I watched these numbers not meeting the passing score. He failed the test but the screener said it happens often and it was nothing to be concerned of. We left the hospital the next day only knowing that he failed this test and had an appointment a month later with an Audiologist. 
A few days later I expressed my concerns about his eyes, chin, hearing and ears to our pediatrician. She told us to try to have our appointment moved up with the ENT to check the physical features of the ears and a hearing screen! 
Long story short we saw 2 ENTS and three audiologists each on multiple occasions passing us back and forth over the course of two months. We had five failed hearing screens and one AEP screen with little explanation on the results. At the AEP screen we were told that they think he can hear in his left ear, maybe not so much in his right ear but his canals are so small maybe the sound isn’t even getting to the inner ear at all. All the maybes concerned me that they didn't have confidence in what they were saying. We were told to come back at age 5 months to see if the canals open up and as soon as I left the office they changed their mind and I was passed back and forth to different ENTs to do another appointment. On January 12th we had an appointment scheduled for Wednesday and the ENT called and said “Maybe you shouldn’t come in I probably don’t have answers for you.” I was furious, who in the world should I see that can tell me if my son can hear or not! (At this moment this was all that I thought was “wrong” and even so the audiologists and ENTs gave the impression everything was okay and he just needed to grow more.) 
My pediatrician decided to refer us to a geneticists but still didn’t raise any flags that we should be concerned.
On the night of January 12th I decided I needed to find answers myself! I went into a deep rabbit hole of information on Google and then BAM there it was! I saw a picture of a little boy that looked just like Hunter! He had every feature that I mentioned to all our specialists that we have seen so far. The little boy was diagnosed with Treacher Collins Syndrome (TCS)! So I immediately started googling TCS for 3 hours! I was alone on my couch at 2 am diagnosing my own son with a rare syndrome! I found a Facebook TCS support page and saw that one of the admins lived in Charlotte, NC so I messaged her! She just so happened to be up or maybe I woke her up, I don’t know. She messaged back saying she did see mild TCS in Hunter and answered all my initial questions!
I ran into our bedroom and woke Drew up at 2 am to show him what I had discovered. We sat on the bed crying, talking and hugging. trying to process all the information.
Treacher Collins Syndrome is a rare syndrome that occurs 1 in 50,000 babies. It can be genetically passed down from a family or the mutation can occur out of the blue. TCS affects the development of tissues and bones in the face. Although TCS causes a difference in physical features, these features can cause difficulties to function and development as well. A person with TCS can have difficulties in hearing, speech, sight, breathing and feeding due to the lack of development in tissues and bones within the face. We are sharing only our personal experience with TCS, one that will be continuously changing as Hunter grows! TCS has a very broad spectrum where every person with TCS has different characteristics and needs! I encourage you to do a little bit of research to understand people with Treacher Collins Syndrome!
The next day we called and emailed every single doctor in town, researched as much as we could and started making appointments. I found direct emails to doctors that have seen patients with TCS and shared our story!
Then, there it was, we received an email back on Wednesday, January 13 from the craniofacial team at MUSC confirming Hunter has traits that correlate with Treacher Collins Syndrome and that they wanted to make an appointment with us immediately! The craniofacial team at MUSC set everything up and even got our genetics appointment that was scheduled for the end of February moved up to Wednesday, January 20th!
That weekend we met the admin of the FB support page in Charlotte! Her and her daughter both have TCS and shared their stories with us! We feel like they are already a part of our family and made us feel like everything is going to be okay!
There is absolutely nothing like not knowing what is “wrong” with your sweet baby and discovering that he has a very rare syndrome (1 in 50,000) by yourself on a couch at 2 am at 2 months old. I pray no parent has to experience this. I wish we would have been prepared and I wish the doctors knew what TCS was! We lost 9 months of being prepared and 2 months of being able to advocate for our son to get him the necessary resources. 
After meeting with the MUSC craniofacial team they confirmed TCS. We met with a pediatric ENT, Audiologists, Speech Therapist and team coordinator. The ENT diagnosed Hunter with Microtia and atresia, underdevelopment of outer and middle ear. Basically his ears look different and the canals aren’t fully open to allow sound through! Hunter's third AEP test confirmed he has conductive hearing loss! He can hear but has no way to get the sound to the cochlear! He will need a hearing aid until he is 5 years old. At 5 years old the ENTs and Audiologist will re-evaluate and determine if he needs a different kind of hearing aid, surgery or both. Hunter also, has a submucous cleft palate and a missing uvula. Both of which are not a concern at the moment because he’s feeding wonderfully. This could change though! If he begins to have trouble breathing or eating in the future he will need surgery on these! This will be checked again at 8-12 months old. We will be seeing an ophthalmologist soon to have his eyes looked at. There are concerns of eye support because of the missing/underdeveloped bone as well as him being able to close his eyes while he sleeps. His jaw at the moment is not a concern and we will not need to address this until he is between 5-10 years old. This is however, a likely surgery that he will need a few times throughout his life and one of the major surgeries he will undergo, it is called jaw displacement! This is just a few of the things we learned at his first appointment with the craniofacial team, it was honestly incredibly overwhelming to meet so many specialists and process all the information. The next day the geneticist also confirmed Treacher Collins Syndrome and sent off a genetic panel to pinpoint the exact mutation. 
So with that we have a long journey ahead of us! We keep playing the song “He said” by Group 1 Crew (one of my favorites). “He said I won’t give you more, more than you can take and I might let you bend but I won’t let you break.” We sure have bent but, we know God has got us and we will figure this all out for our kids! We are incredibly blessed with the world’s best friends and amazing family. We know without a doubt that our friends and family will love Hunter so much and not treat him any differently than any other kid. Because this is such a rare syndrome we also know that this journey might be confusing for our loved ones and we want to make it easy for everyone to know how to approach us with questions and understand TCS. We have created a Facebook page (The Extraordinary Hunt: Treacher Collins Syndrome) and an Instagram (The_Extraordinary_Hunt) so that you can follow along with us, learn about TCS, understand how to be involved, and help support the TCS community by sharing the information we learn! There are leading scientists out there that are working hard to find answers and we are determined to do our part in sharing awareness!
It is so important to us that Hunter grows up not being treated any differently than any other kid. Drew and I have had days where we are weak, relying solely on God and each other in that moment. Then there are days we are strong and have grace in knowing that Hunter will be loved and provided with everything he needs! However we are feeling when we talk to you we still want to talk about Hunter! He’s incredible, his story needs to be heard and with the help of our friends and family everyone will know it!
We don’t like asking for help. Insurance won’t cover everything and our journey will possibly be financially burdening on our family however necessary for Hunter's future! We appreciate any donation to our family to help with Hunter’s surgical expenses, specialists visits, travel to see specialists/surgeries or travel to learn about TCS. We don’t have a clear picture of how much it will cost for Hunter’s needs but our doctors advised with wide eyes that it will be a lot. Donations will only go towards assisting in finances for Hunter’s Treacher Collins Syndrome. To skip this platforms fees of 3% Venmo: Cj-Knighten with a subject Hunter-TCS Donation. We know with Covid we are all going through difficult financial times and that’s okay if you can’t help financially. Please please please share our story so that the world can learn more about TCS! What I want more than anything is that every parent after me that has a child with TCS has a doctor that can identify TCS and give immediate assistance to a diagnosis! No parent should have to diagnose their own son or even leave the hospital not knowing their child has TCS.
Side Note: Treacher Collins Syndrome was featured in the movie Wonder with Julia Roberts! It's a must watch! :) 