It was the morning after Thanksgiving.
Julie and Rick Cincotta woke up to a dolphin-like sound on their baby monitor. They immediately ran into their 3-month-old son Joey’s room to find him having a seizure, his first of many after that. This was the beginning of their medical journey.
When Joey was a year old, he became a patient of The Feingold Center for Children. It was with the help of Dr. Catherine Nowak and the genetics team that they discovered Joey has a gene mutation on his Far 1 480 gene: a diagnosis so rare that only a handful of others in the world share this mutation, meaning there was very little information about it at the time. Despite this, having a diagnosis for Joey meant Julie and Rick could finally stop researching for answers on their own every time they heard something it might be, expecting to go years or even a lifetime before they finally knew what was wrong. Dr. Nowak was also able to diagnose Joey with cataracts in his eyes, and connect the family with the appropriate doctors so he could receive the necessary treatment right away. Today, Joey has since endured hundreds of therapy sessions, been to countless doctors’ appointments, undergone several surgeries and procedures, and The Feingold Service and Genesis Foundation for Children have been a consistent resource for him along the way. Recently, Dr. Nowak and her team connected the Cincotta family with GeneDx and the National Institute of Health, and they had the privilege of going to the facility in Maryland to participate in the ongoing research for the newly discovered gene mutation.
Joey has now developed bilateral cataracts and spastic diplegia with dystonia, and has faced many challenges, specifically with equipment. Julie recalls the hours that have been put into trying to obtain items like an appropriate seat and toilet seat for Joey at school or battles with insurance for a stroller that Joey could fit in to go out into the community. She says, “There have been so many instances when I need someone to help—to provide some experience or offer a resource or an idea…and I know I can rely on [Dr. Nowak] for an answer or count on her to find one.” That is why Dr. Nowak and The Genesis Foundation came to mind when Julie and Rick were faced with the cost of providing something for Joey that would allow him to truly be a kid—a bike. They felt it was a rite of passage for any child, and thanks to funds from The Genesis Foundation, and the collaboration between Boston Abilities (where Joey does his PT) and Freedom Concepts, he was able to receive one that allows him to ride independently.
“A positive mindset can help a person; a good outlook paired with opportunity can enable a person to be unstoppable.” – Julie Cincotta
Julie and Rick want Joey to continue to have opportunities to build up his strength and get exercise, but more than that, they want him to be able to have fun and laugh with others, which according to those around him, is something he is very good at doing. Joey’s one-to-one assistant says that one of his strengths is his ability to find humor in every situation and maintain a positive attitude. Joey’s mom shared, “In the more recent years, Joey has had several, major hip surgeries and each time he approached them as if we were taking a vacation [in Boston]. During the weeks in the hospital, he was eager to assist the medical staff with his care. Several times he said to us ‘Teamwork makes the dream work’. At the end of the day, with IV’s and leads attached, he would say ‘this was the best day ever’.”
It was Joey’s physical therapy team that said no matter how hard he is asked to work, no matter how many obstacles are in his path, or how tired he is, Joey still manages to have fun and never gets hung up on the tough things for long. At school, Joey’s assistant often found herself concerned about an activity that would be difficult or impossible to modify in order for him to participate, and yet Joey managed to still make the best of whatever situation was given to him. Like the day when there was an obstacle course at school, and instead of being angry or upset that he couldn’t run the course, Joey directed a teacher through the course with her eyes closed, first shouting “turn left, jump, turn right”, and then he said, ” stop and wag your tail.” This made every child laugh, which sent Joey into a fit of giggles himself.
One of the many things that make Joey special, according to his mom, is that he handles all his challenges with such grace, and does not see them as walls to hold him back but as mere speed bumps that he will be able to overcome, even if with a little help. She says, “I consider myself to be extremely blessed to be Joe’s mom. Every day I feel so proud of who he is and for the actions he takes. Joey is truly an individual who has been recognized for his beautiful soul, determined mind, and compassionate heart.”
2022 Latham Award Recipient
In June, Joey received the Latham Award on behalf of Dr. Nowak (pictured left) and The Genesis Foundation for Children at their “On the Field at Fenway Park” event where he and his family were VIP guests. Julie said during her welcome speech, “Events such as today’s give kids like Joey a chance to build a positive mindset by providing opportunities they may not have had otherwise; allowing them to have fun, mobility, meet new people, and go on adventures.” She continued, “The work, the care, and the giving from Dr. Nowak, the Feingold Center, and the Genesis Foundation allow so many individuals the resources to access the world. Thank you to all of those contributing here today and for recognizing the value in what the Genesis Foundation does for so many individuals with complex medical needs.”
Your donation to The Genesis Foundation for Children can allow us to support more children and their families living with a rare disease or genetic disorder. Please make a gift today so that we can continue to help children reach their full potential.
Pictured: Rick, Julie and Joey Cincotta, with Joey’s service dog