Being a father to his 4-year-old son, Cole, makes Sebastian Noecker proud each and every day.

“He is endlessly happy. He is content and happy and smiley. The best description I can give you is happy and joyful,” said Noecker, of Tamaqua.

And yet, Cole is dealing with an extremely rare genetic disorder that impacts his mental and physical development.

It wasn’t long after Cole’s birth that Noecker began to fear that something was wrong.

“He had missed many severe milestones. He was missing milestones consistently,” he explained.

When test after test failed to pinpoint a cause, he, wife Lauren and Cole underwent whole genome testing.

“That’s when we found out he has this rare genetic disorder,” Noecker said.

Called Snyder-Robinson syndrome, the condition is characterized by intellectual disability, muscle and bone abnormalities and other developmental problems. Cole is one of only 120 people around the world diagnosed with it.

He was barely over a year old when the family learned of it.

“There was a lot of denial at first. It was a lot of objective denial where it was kind of like, ‘Well, you know what? It might not be that bad. We don’t know because there’s a lot of unknown with his disorder,’?” he said.

A period of grieving followed. Noecker couldn’t help but think he’d never watch his son run, he’d never see him play sports, and he’d never witness him “just do those regular little kid things.”

“But that also helped me grow into the understanding that I have a whole new experience that I’m going to get to do with him,” Noecker said.

Cole can’t form words, so he communicates with grunts, cries and whimpers. He has low muscle tone throughout his tiny body, which renders him unable to walk. Cole also has a significant seizure disorder and needs constant care.

“We don’t know his life expectancy, and because of his seizure disorder that can be unfortunately any day of the week,” Noecker said.

Each day is special.

When he wakes in the morning, Cole receives his medication. And then it’s time for breakfast with his sisters, Ellie, 10, and Olivia, 2.

“He can feed himself which is great. He makes quite a mess out of it but he can feed himself very happily,” Noecker said.

Playtime follows.

Cole scoots around on the floor, and favors flashing toys and just about anything that makes a crinkly noise, his father noted.

He sees numerous specialists for his condition, and has frequent physical and speech therapy appointments.

One day, Noecker hopes Cole will walk with the aid of a walker.

“I’m really hopeful and confident. He’s been making a lot of great progress. In truth, my expectations were a little low mostly because of all the unknowns. But he has progressed so far between feeding himself and pulling himself up on things. He stands. He loves to pull himself up on the windowsill,” Noecker said. “Hopefully one day he’ll be able to independently stand up.”

Noecker relishes each milestone.

“I’m proud. I’m proud of him and all the progress he makes. I’m proud of myself for being able to maintain something I never thought I’d be able to handle on top of handling two girls,” he said. “Parenting is hard. Period. Everybody deserves credit who can raise children in general. I’m just doing my best with what I have.”