Write a commentWhile standing in line at The Coffee Connection, I watched young mother Gina Vaughn-Wilson and her two and a half year old daughter Emmie come through the door.
As Mom unloaded her bags, the little girl began to explore the shop as most toddlers would. Gina said, "You'd never know from the way she acts that she is actually in heart failure, would you?" Indeed, you wouldn't - Emmie seemed energetic and curious as her mother kept a close eye on her in the busy coffee shop.
Emmie Wilson's first years haven't been easy, I learned, as Gina began to tell Emmie's story while she settled the little one on her lap with a cup of juice and a glazed donut.
"As Emmie got to around a year old, she wasn't really reaching many of the developmental milestones she should have been," Gina said. "She was small for her age, and also she was unusually quiet. When she did talk her speech seemed muffled. At first, I thought she might be deaf."
Gina said they took Emmie for a hearing test that came out normal, but that she still wasn't progressing as well as she should have been. A second hearing test later revealed that there was thick mucus in her ear canals, and after drainage tubes were put in, Emmie's speech improved significantly.
During this testing phase, Emmie's doctor had her checked for an esophageal cleft to see what might've been causing some swallowing difficulties she was also having that had caused her to choke several times. "The test showed that Emmie's adenoids were enlarged, and had been causing her to micro-aspirate - she was inhaling tiny particles into her airway causing the choking issues," Gina said. "We noticed a big improvement once they trimmed them down to normal size."
In the meantime, Emmie's development was still well below her age range, Gina continued. Emmie's pediatrician, Dr. Joseph Nemeh at ConnextCare in Oswego, recommended she get genetic testing to see if something in her DNA might give a clue as to what might be causing the developmental issues Emmie was experiencing. A visit to Rochester Neurological Geneticist revealed that Emmie has an extremely rare condition called Congenital Contractural Arachnodactyly, in which a couple of chromosomes are present in the wrong order within Emmie's genes.
Gina said that the condition affects fewer than one in a hundred thousand children, and there's only been one scientific study on the condition so far. "Emmie was not involved in that study. The disease is so rare, there were only 28 subjects worldwide" she said. "Two of the subjects had the same 'misspelling' of the chromosomes that Emmie has. The doctors are not yet sure what that means, though."
Emmie also deals with scoliosis, a curvature of the spine. Gina continued, "[One of the] study subjects has scoliosis as well. That's another mystery."
After a difficult beginning to 2023, Emmie began to thrive in the summertime. "Her development improved significantly," Gina said. "We even decided to go on a family vacation to Gatlinburg, Tennessee before her sister Liberty started back to school."
It was during a hike in the Tennessee mountains that Emmie began to develop some shortness of breath when she exerted herself. "We brought her to her doctor's office as soon as we got home. They put her on a heart monitor and discovered that she was in heart failure."
Emmie was transferred to Syracuse's Golisano Pediatric Hospital emergency room, where a pulmonologist ordered an echocardiogram which found that Emmie had an enlarged heart, called dilated cardiomyopathy. The pulmonologist also heard a murmur in Emmie's heart, and determined that she has a hole in the wall between two chambers which likely will not heal on its own. She stayed in the Pediatric Intensive Care Unit at Golisano for eight days following this incident.
Gina said the doctors told her that they normally won't operate to close the hole in patients under five years of age, but Emmie might need to get hers fixed this year. "Fortunately, she doesn't have many outward symptoms other than an elevated heart rate," Gina told us. "Emmie sleeps a lot, but her doctors say her body needs to rest."
As if reading her mother's mind, Emmie crawled up onto Gina's lap and fell asleep while we were completing this interview.
Gina said that as Emmie's journey has progressed, she has been posting some of the news about Emmie's condition on her Facebook page. One day she received a message from a friend who recommended that she get in touch with the American Heart Association. One of the results was that Emmie has been named as an Inspirational Honoree for the Syracuse area Heart Walk which will be held on April 14 at the SRC Arena on the campus of Onondaga Community College. Emmie's story will be used in articles publicizing the event, in a public service announcement, and in newscast segments leading up to the event. She will also be honored on the day of the event.
Closer to home, the Wilson's family friend Mitch Labouef will be doing a Pull-Up Challenge to benefit the Children's Cardiomyopathy Association this coming Sunday, February 17, at Gibby's Irish Pub in Oswego. Family and friends are welcome to join the Wilsons, and can donate for each pull-up that Mitch is able to complete.
The Oswego Firefighters Association recently sold commemorative tee shirts to its members and retirees to help support Emmie's cause as well. Emmie's grandfather, Ray 'Buddy' Wilson is a retired firefighter.
Another fundraising event by the Wilson family is in the planning stages. A spaghetti and meatball dinner is planned for May 5 at the Moose Lodge in Oswego. Stay tuned to iHeart Oswego for more information on this event as it becomes available.
Emmie's older sister Liberty has been making friendship bracelets every time Emmie goes to a doctor's appointment, and has decided to make more bracelets to sell at the fundraiser. The family is also planning to have "Emmie's Village" tee shirts available prior to the event.
Little Emmie seems to have the cards stacked against her, but she has proven to be resilient so far, her mother said. "She's a happy little girl, and she just rolls with the punches. I think she's going to turn out just fine. With the support of our loved ones, we'll get through this and hopefully she'll grow up strong and happy."
