May 28, 2022 is Treacher Collins Syndrome Awareness Day in S.C.

May 27, 2022

This week, South Carolina Governor Henry McMaster signed a proclamation marking May 28, 2022 as Treacher Collins Syndrome Awareness Day in South Carolina.

According to the National Organization for Rare Disorders, Treacher Collins Syndrome (TCS) is a rare genetic disorder characterized by distinctive abnormalities of the head and the face. TCS was named after a Longon opthamologist who first described the disorder, Edward Treacher Collins. Physical characteristics and symptoms associated with TCS can vary greatly from one individual to another. Craniofacial abnormalities can include: underdevelopment of the zygomatic complex (which plays a key role in the structure, function, and appearance of the facial skeleton), cheekbones, jaws, palate and mouth, which can lead to breathing or feed difficulties. Malformations of the eyes, including a downward slant at the opening between the upper and lower eyelids, may be present in affected individuals. Hearing loss may also occur due to anomalies of external and middle ear structures. TCS can mildly affect some individuals leading to them going undiagnosed, while others with TC may develop serious, life-threatening complications. 

You can learn more about Treacher Collins Syndrome, including causes, related disorders, and standard therapies for TCS here.

Beginnings SC Family Story: The Knightens

Pictured above: The Knighten family: Andrew, Hunter (1), CJ, and Jackson (3). Hunter is pictured alone on the right.  

Treacher Collins Syndrome Awareness Day in South Caroline was actualized by one of our amazing Beginnings SC moms, CJ Knighten. CJ emailed Gov. McMaster about getting a proclamation for TCS Awareness Day, and she made it happen! Below, CJ shares her family’s story with TCS. 

“In November 2020 I gave birth to the most handsome perfect little baby, Hunter, our family was smitten over him.  We noticed that he had a few facial differences and was struggling to breath at birth.  The doctors dismissed our concerns and said everything was fine.  After his two failed newborn hearing screenings we were referred to an ENT/Audiologist.  For 2.5 months we saw a handful of pediatricians, ENT and audiologists.  All dismissed our concerns and kept saying come back in a week for us to check his hearing again.  They said, "we think he can hear but, we’re not sure." One day they canceled our appointment and said they couldn't help us.  It was really confusing because we were consistently assured that they didn't believe there was a concern.  That night I googled underdeveloped ears and dents below the eyes.  Within ten minutes I found a picture of a little boy that looked identical to my son.  At that very moment I knew Hunter had Treacher Collins Syndrome.  We emailed MUSC and received a response the next day confirming he has features consistent with TCS.  Later his genetic tests confirmed Hunter had TCS. TCS occurs 1 in 50,000 and before Hunter was born we had never heard of it.  We have struggled to find doctors that have experience with TCS or even know what TCS is.  We have also struggled to find other families that have also received a TCS diagnosis. I realized that there needs to be awareness for Treacher Collins Syndrome for so many reasons.  Awareness brings others with TCS together, it helps build the health care understanding of what TCS is, it helps to bring the resources needed to individuals with TCS, and so much more.  I was so excited to receive an email this week after reaching out to Governor McMaster with a proclamation for Treacher Collins Syndrome Awareness Day on May 28, 2022.  This is one step closer to bringing our community goals to life. It has also inspired a couple of the TCS families locally within South Carolina to meet-up for the first time this Saturday, May 28 to celebrate the FIRST Treacher Collins Syndrome Awareness Day.”