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Not long after Holly Begley learned she was pregnant with her second child, she began to worry that something wasn't right.
Remembering the frequent morning sickness and tiredness throughout her first pregnancy with son Andy, Begley said she just didn't feel pregnant this time.
In the later stages of her pregnancy, doctors also became concerned when the baby's abdomen circumference measured too small and, just one month before Begley's due date, it was discovered the baby had a heart defect and would need to be placed in a neonatal intensive care unit immediately after birth.
At 3:55 a.m. on May 24, 2011, Colt Eric Begley was born at Norton Hospital in Louisville. He stayed three weeks in Kosair Children's Hospital and was diagnosed with left ventricular non-compaction, a genetic heart disease that causes irregular heart rhythms and weakness of the heart muscle.
"I was really nervous, but I was like, these people know what they're doing, I'm sure they've seen a lot of this," Begley said. "And really, they hadn't."
Sent home with four heart medications and no clear answers, it was four months - and several seizures later - before Colt was finally diagnosed with 1p36 Deletion Syndrome.
According to www.1p36dsa.org, 1p36 Deletion Syndrome is a chromosome disorder characterized by moderate to severe intellectual disability, delayed growth, limited speech ability and distinct facial features. It occurs in one in every 5,000 to 10,000 births.
"When we got the 1p36 Deletion Syndrome diagnosis, we were so thrilled to finally have an answer," Begley said. "We finally knew that's what caused the heart defect, that's what caused the seizures and everything else that he's got going on."
Although Colt's deletion is fairly small, Begley said she and her husband, Eric, quickly learned the missing genetic information, not the size of the deletion, is what matters.
The Begleys were also told the majority of 1p36 Deletion Syndrome cases aren't hereditary.
"The doctors told us it's a fluke that couldn't have been prevented, and there's nothing [we] could have done that caused it," Begley said.
Already parents to 3-year old Andy, Begley said life was going great and they were so excited when she learned she was pregnant again.
Just 17 when she had her first child, Begley said a lot of people asked why she would want to have another child so young. But Begley said she wanted her children to be born close together and she and her husband adjusted well to parenthood.
"When we had Andy so young, we were forced to grow up and we learned from our experience with that," Begley said.
And according to Begley, Andy, now 5, is a big help with two-year-old Colt.
"He loves Andy. I've heard a lot of people say that God knows who he's giving these babies to parent-wise, and I get that," Begley said. "But I also think he takes into consideration the siblings, because I couldn't imagine a better bigger sibling than Andy."
At a very young age, Begley said, Andy understood his little brother needed special attention, and he doesn't get angry or jealous because of it. But when Colt was first born, Begley said she had a lot of guilt about being away from Andy while they stayed at Ronald McDonald House to stay close to Colt.
"The hardest part was leaving Andy because he was at that age where he didn't understand," Begley said. "He had no idea why we were gone so long. My mom would bring him up there to us and he'd been with her so long that he really didn't want anything to do with me and Eric."
But after his second visit, Begley said Andy realized his brother was sick, and since then, has been very protective of Colt.
"I'd be lying if I said it wasn't hard seeing kids that are Colt's age and seeing what they do and seeing what he's missing out on," Begley said. "And I feel bad for Andy, too, because he's not getting that traditional bond with his little brother. They're not getting to run and play together."
But Begley said she is hopeful that might change someday.
"The majority of them do walk, it just takes them longer, like around 4 or 5," Begley said.
Although because of deafness, many children with 1p36 deletion syndrome are nonverbal, Begley said Colt is learning sign language.
He knows the sign for "more" and Begley said they have made their own signs he mimics when he wants to be picked up or wants a particular person to hold him.
Begley said Colt's deafness stems from a problem between the cochlea and brain, and can't be fixed with hearing aids. And because getting cochlear implants would require major surgery, Begley said they have decided against that for now.
"If later on in his life he isn't progressing with hearing and not communicating well through signing, we can always revisit the implants," Begley said.
Because of his low muscle tone, Colt is unable to sit in regular chairs and must be strapped to his seat.
Through First Steps, a statewide early intervention system that provides services to children with developmental disabilities from birth to age 3, Colt has occupational therapy once a week, physical therapy three times a month and speech therapy twice a month. After he graduates from the program next year, Colt will start school.
Begley said Colt's occupational therapy has progressed a lot since they began focusing on his sensory sensitivity. Speech therapy for Colt centers around feeding skills and not so much on talking.
"That's another characteristic, feeding difficulties. It's not that he can't swallow or can't chew, it's basically a sensory issue," Begley said.
According to Begley, a lot of children with 1p36 Deletion Syndrome can't swallow, chew or even suck a bottle. For now, all of Colt's meals are through a bottle.
"The majority of them have a feeding tube. We've escaped it so far, but if he doesn't gain weight appropriately, then we'll have to visit that," Begley said.
Because illnesses that usually aren't serious in typical children can quickly lead to hospitalization because of Colt's weak immune system, Begley said she shelters him and tries to keep him away from everything.
"I've turned into a germaphobe with him," she said.
Begley said that they have accepted Colt's diagnosis. It can be especially rough when they think back to their much different experience with Andy in his first two years.
"Andy was very advanced in everything. He walked, gave up his bottle and was potty trained very fast," Begley said. "So I have two kids on two completely different ends of the spectrum in every way possible just about."
When Colt rolled over for the first time, he was nearly 7 months old. However, for the Begleys, not knowing when Colt will reach developmental milestones has taught them to appreciate the smaller steps more.
"Eric was the first to get a laugh out of Colt," Begley said.
Although Begley readily acknowledges that Colt is not the average 2-year-old, he enjoys some of the same activities they do. He likes to swing, prefers toys that light up and loves his therapy dog, Willie.
Begley said Colt also has good eyesight and is very curious about his surroundings.
"If I lay him in the floor, he'll break his neck to get in the curtains and pull on them," Begley said. "Even though he can't move in traditional ways, he knows how to get where he wants to go."
Colt has not started crawling yet, but thanks to his therapy stander, Begley said he is learning to bear weight on his shoulders and arms.
She said she worries sometimes about what will happen to Colt when she and Eric get older and are no longer able to care for him. But she said they stay sane by taking it one day at a time.
"Sometimes I do have moments where I'm like, why can't he be typical?" Begley said. "But then I start to worry that if I didn't get him, I think about who else could have gotten him and what if he wasn't loved? So I mean really, I can't imagine life without him."