Like many parents, my wife Jennifer and I found ourselves completely lost when we learned of our son, Owen’s, medical problems. After the first emotional wringing of coming to terms with our child having special needs, we got to work trying to find out what was wrong so we could make life easier for him. In the beginning we weren’t expecting answers, but guidance. There are so many services available, with sometimes staggering wait-lists involved, that it can seem somewhat of a labyrinth to navigate getting the best care for our child.
Even from the beginning, Owen fed abnormally. He had difficulty latching, rejected the breast early, and later rejected bottles, and after successful introduction of solids, then rejected all foods except oatmeal and apple sauce. On top of that, he couldn’t tell us what was wrong, as he suffered delayed speech. As he kept losing weight, we became desperate. Things started to turn around when we booked an appointment at Quinte Pediatrics.
From the start Dr. Dempsey and the amazing staff did not tell us “Don’t worry.” They took us seriously, providing us with many possible courses of action, including blood and urine screening for metabolic diseases, looking at his motor control issues, consultation with neurology and dietitians, and assessment for autism, all of which was done with Owen’s specific needs in mind, and never once trying to pigeon-hole him into convenient diagnosis. We focused on the most pressing areas at first. Metabolics. Teeth. Adenoids. Neurology.
One by one we took on the things in Owen’s way. We got his painful teeth either repaired or extracted. Then we had his adenoids removed, and he now breathes better, and sleeps somewhat comfortably. Neurology took much longer than we expected, but with the help of Quinte Pediatrics, we were able to get in for genetic testing as well, and it has turned out to be our ‘big break’.
Here’s where it gets complicated. Owen is unique. He has a genetic disorder that is so rare and specific that he is one of only a handful to be documented. He has a triplication on his 11q chromosome, meaning two extra copies on the ‘q’ arm. There have been nine documentations of duplications, meaning one extra copy, only two with two. Where does this leave us? We don’t know. Genetics is a relatively new science, and not fully understood. And while we are left with many larger questions, we’re getting closer to answers in our journey, and thankfully Owen’s life has dramatically improved.
Dr. Dempsey and the staff at Quinte Pediatrics have been instrumental not only in explaining some of the industry specific terms and processes, but for invaluable support when we finish a certain round of testing and find ourselves asking “what next?” Words cannot express how much we appreciate their skills and approachable attitude. We may not have found the cure to Owen’s disorder, but we have had the best guidance and support possible through the process. It’s nice to have someone in our corner.
Owen’s story was submitted by his dad, Jon.