It’s been a long time since I’ve written and I appreciate all who have taken the time to reach out to me in one form or another over the past year. In a future post, I plan to elaborate on what exactly I’ve done with myself since April 2011 and maybe even start kicking around ideas again, but that’s far less important than what follows, which is the story of a cool young man with cat eye syndrome in honor of Cat Eye Syndrome Awareness Day. Don’t know what that is? Visit here to learn more.
Begin Joey’s story:
Joey is four-years-old and is a preschooler at Blix Elementary School in Tacoma, WA (USA). He loves to do puzzles, play games, read, sing and hopes to be a teacher, heart surgeon or baseball player some day.
When Joey was born he was quickly transported to Tacoma General Hospital’s Neonatal Intensive Care Unit (NICU) and underwent surgery the next day to repair his imperforate anus. While he was recovering it seemed like he was checked out by almost every specialty in the hospital and was diagnosed with bilateral colaboma, ear tags and ear pits, moderate hearing loss on one side, Total Anomalous Pulmonary Venous Return (TAPVR), a tethered spinal cord, vesicoureteral reflux and one kidney that was multicystic dysplastic and had no function. All of these features and symptoms lead the doctors to believe he had Cat Eye Syndrome, a diagnosis that was confirmed by genetic testing a few weeks later. Joey had his second surgery on this three-week birthday to place a g-tube in his stomach because he was not allowed to eat by mouth. When he was four weeks old he was able to go home with a strict regimen of medication for his heart and round-the-clock feeds.
Joey still needed open heart surgery to save his life, and had frequent visits to his cardiologist to monitor his congestive heart failure. There is risk of organ failure with open heart surgery, and with his existing kidney problems the likelihood of him needing dialysis after his surgery was high. Together, his cardiologist and nephrologist determined it best that he go to Seattle Children’s Hospital for the surgery. The date was set and when he was 2-1/2 months old he was once again on the operating table, this time for approximately six hours. During the operation a tube was placed to prep him for dialysis if it would become necessary. As with his previous surgeries, Joey did extremely well and within a few days was moved from the Cardiac ICU. His kidneys did not fail and he did not need dialysis. His first smiles came a few days later, and after a week he was sent home with his incredibly relieved and thankful parents.
Since Joey’s heart surgery he has had five more minor operations for things like placing ear tubes, taking off his ear tags, closing his g-tube site after her learned to take a bottle and most recently to repair his kidney reflux. He never ended up needing the spinal surgery that had been expected; an MRI done when he was five months old showed that the problem had fixed itself. He was also diagnosed with bilateral vocal cord paralysis and laryngomalacia, as well as other malformations of his airway. He participated in birth-three services and physical therapy, and still attends weekly sessions with his speech therapist at Mary Bridge Children’s Hospital focusing on aural rehabilitation.
Joey continues to see most of the specialists he was introduced to as a baby regularly, though less frequently. He wears a hearing aid in one ear, and while his vision is very limited on one side, the other eye is in the normal range and he manages with that just fine. He loves to tell stories, and thanks to the help of his hearing aid and speech therapy most of the time he doesn’t stop talking. Sometimes when Joey gets a cold or flu he needs extra help with his breathing and has been hospitalized three times with various bugs. He is always well taken care of at Mary Bridge Children’s Hospital, and bounces back each time.
Joey has a whole team of amazing doctors, nurses, teachers, therapists and family members who have fought with him and celebrated his accomplishments. In turn, Joey is a bright, loving boy who brings joy to many.
If nothing else was gained from Joey’s story, I hope that you were able to take away some level of awareness and at least a smile.