PROSPECT — A local family is hoping 5 kilometers will go a long way to help raising awareness about and funds to research a rare chromosome disorder.
Susan Regalado of Prospect is organizing Jayden’s Journey to Research, a 5K run and walk. The event will be held Aug. 10 at Hotchkiss Park on Route 69.
Regalado is putting on the event to raise money for Chromosome Disorder Outreach, Inc., a nonprofit organization based out of Boca Raton, Fla. But, more importantly, the event is a way to honor her son, Jayden.
Jayden, 5, was born with a rare chromosome disorder known as Ring 21 deletion, which causes delayed motor functions, delayed growth, mental impairment and physical traits similar to Down Syndrome.
Regalado said when Jayden was born he was misdiagnosed as having Down Syndrome, which is a duplication of the 21st chromosome.
“He [was born] a little earlier. He was 3 pounds 8 ounces. Nobody thought he had anything wrong, they just thought he was small,” she said. “Then they noticed symptoms that were identical to Down Syndrome.”
However, Jayden did not show the typical progressions of a child with Down Syndrome. Regalado began to question the diagnosis and looked into what else could be wrong with her son.
“I kind of diagnosed him myself. They sent his chromosomes for a microarray test. They came back and I was right. He had the deletion in the 21st chromosome,” Regalado said.
Regalado said some chromosome disorders, such as Down Syndrome, are inherited and can run in the parents’ genetics. However, this was not the case for Jayden.
“It was a fluke. When the cells divided, they dived the wrong way,” Regalado said. “I did all the normal testing you could do. It never showed something was wrong.”
Although he is 5, Jayden currently functions on the same level as a 1-year-old, Regalado said. He is unable to walk, has some hearing loss, low muscle tone and is just beginning to gain motor control in his hands.
“There’s nothing serious he will die from. He’s pretty healthy. He’s just slow. He’s really delayed,” Regalado said.
Jayden, who was born and raised in Beacon Falls before the family moved to Prospect a year ago, may not be able to keep up with children his own age. But, that doesn’t stop him from enjoying life.
“His favorite thing is being outside. He loves being in the pool. He loves going swimming. He loves taking bus rides to school and back,” Regalado said. “He has a rocking horse he likes and rocks on like a mad man.”
Regalado hopes Jayden’s Journey to Research helps to raise awareness about a disorder that is often unheard of because of how few people have it.
Chromosome disorders are extremely rare, she said. While there are multiple children around the country that have chromosome disorders, Jayden is the only child she knows of who has Ring 21.
So far the event has generated more interest than Regalado anticipated. Her original goal was to raise $3,000 for Chromosome Disorder Outreach. As of mid-July, she had raised over $1,000 so she bumped up her goal to $5,000.
Jayden’s Journey to Research will be a family-friendly event, with two magicians, a face painter, a bounce house, a DJ and food from Frankies Hot Dogs. Parents from New York and New Jersey whose children also have a chromosome disorder are planning on attending the event as well, Regalado said.
Jayden’s Journey to Research begins at 9 a.m. and runs until 12:30 p.m. The registration fee is $15. Registration can be done online at www.firstgiving.com/fundraiser/susanregalado/jaydensjourney. Donations are also being accepted through the website.
Regalado hopes the money raised can go towards research that will lead to a better understanding of Ring 21, and Jayden’s unique disorder can help scientists in the future.
However, Jayden is first and foremost her son, and the event is his day.
“He’s so adorable. He’s the cutest thing,” Regalado said.
