(May 3, 2021)

McKenna is the daughter of Robin, you may remember reading about Robin–our 22q nurse– and McKenna in earlier feature stories. McKenna is now a thriving 4-year-old, but it was a rough start for her. McKenna was born April 2017 in Cincinnati, Ohio via a c-section at 39 weeks. Just as they were about to release McKenna from the hospital, the doctor making rounds told her parents that he did not like the sound of her heart murmur.   At this point, they sent McKenna to Cincinnati Children’s Hospital for an echo, where they discovered she had Truncus Arteriosus, an interrupted aortic arch, type B. Shortly thereafter, McKenna had a seizure, which was due to very low levels of calcium.

The medical professionals decided to do genetic testing and a few months later she was diagnosed with 2 chromosome deletions, 10q and 22q, with the 10q having no significant health issues and 22q being the source of her heart condition, as well as others. After this diagnosis, the geneticist counselor suggested her mom and dad be tested. After having to work with the insurance company several times, the genetic testing was approved and completed. The tests concluded that McKenna’s father had 10q and her mother had 22q.

McKenna has overcome so much in her short 4 years of life. She has been through several heart surgeries and will require another in the future. She requires oxygen 24 hours a day due to the compression on her airway caused by her heart, and she has a G-tube. Having the G-tube doesn’t require her to eat a special diet, only extra fluids, and although she eats everything by mouth, most of her fluids and some food, come through the tube. At the beginning of 2020, she was in the hospital for several weeks with the flu, but as she does with everything, she fought through the flu like a champ!

Despite some ongoing health issues, nothing stops her! McKenna will start face-to-face school in the Fall with an IEP and a nurse by her side. Speech has always been a challenge for her, but she knows sign language, and is currently in speech therapy, and can now almost say two complete words. She loves to play with her older sister Madison, baby dolls, and pretend. She also likes to play with the neighborhood kids and on a nice warm day, you can find her drawing with chalk and playing on her playground. As her mom says, “we try to stay healthy and thrive!”

What is her mom Robin’s advice to other parents of children with the deletion or duplication? “The skies the limit, don’t let 22q define you, YOU define 22q! It’s one day at a time… and enjoy the little things.”