Mount Pleasant Magazine Sept/Oct 2021

98 www.MountPl easantPodcas t . com | www. ReadMPM. com | www. I LoveMountPl easant . com C J Knighten, a devoted stay-at-home mother of two young boys, put her children down for bed and sat on her living room couch to relax after a long day. However, it was hard to do so with looming thoughts of her newborn son’s inhibited hearing, a matter that had puzzled every doctor she had come across so far. On a whim, she decided a quick Google search of his symptoms couldn’t hurt. That “quick” search turned into a diagnosis and a lifelong research process no one could have foretold. “We didn’t know that there were any concerns before, and now we have an entire list we need to worry about,” Knighten said. “I didn’t know my anxieties were real.” She diagnosed her own son, Hunter, with Treacher Collins Syndrome; a rare genetic disorder which affects the cheekbones, jaw, chin and ears. It occurs in about one in 50,000 people, and it can hinder hearing, eyesight and even breathing. Hunter’s pediatrician explained to Knighten how doctors often go their entire careers without ever seeing this condition. Knighten and her husband, Drew, are thankful that Hunter’s condition is mild, because if he had a severe case, the lack of a proper diagnosis could have put his life in danger. Crawling became a struggle for Hunter later because he didn’t have sounds to motivate him. What took Knighten five minutes on her phone could have saved Hunter two and a half months of missed crucial developmental milestones. “I raised flags,” Knighten said. “I raised so many red flags. Testing did too. I know my job is to be the parent and advocate for my child.” When Hunter was born, the Knighten parents immediately noticed he didn’t resemble his older brother, Jackson. As they peered down at the baby boy, they saw his ears appeared to be a little bit different and his eyes seemed slanted. Knighten recalled a moment during the night when nurses came in to check up on her baby. Exhausted, she held Hunter as they put headgear on him to check his hearing. “It was a little traumatic for me,” Knighten said. “I had to hold him while he had these things on his ears, and I just watched him for 30 minutes, failing his test.” The nurses said it happens to a lot of babies, and it might be water behind the ear from labor. But Hunter’s failed hearing tests began to raise concerns as they continued in every followup. After several ENT referrals and a ABR auditory brainstem response test, Knighten received a call from the doctor’s office and a receptionist, explaining they didn’t think they’d have answers for her and wishing her good luck. “I thought, ‘Well, where should I go,’” Knighten recalled. “‘Is there a problem? Why don’t you have answers?’ I [was] kind of shocked, like, I don’t know what to do.” When her research brought her to the conclusion that BY REAG I N LYNN The Extraordinary “Hunt ” How One Mother’s Instinct Led to a Diagnosis Photo by We l l Kept Des i gn .