After facing medical mysteries with her son, a Slippery Rock mother is hoping to connect with the family, friends or doctors of the few others who share his rare condition.

Kasey Schnur hadn’t publicly told her son, Rowen Ellenberger’s story until recently when she posted to Facebook with a call for help, detailing how Rowen was diagnosed with UNC79-related neurodevelopmental disorder — a rare, nonhereditary genetic disorder.

“We have decided to put our son’s story out in hopes maybe it reaches one of the rare people going through something similar or a doctor who may have seen something similar,” Schnur said in the April post. “Please be kind, this isn’t easy, and yes, we do many appointments but he stumps the doctors at this point.”

She took the opportunity to explain her family’s experience trying to diagnose and treat her Rowen.

“At about 3, we began noticing him shaking and had blood work done,” she said.

He’d later become the seventh person in the world to be diagnosed with the UNC79-related neurodevelopmental disorder.

Schnur said before Rowen was born, she was failing nonstress tests. But when he “came out perfectly healthy,” they only found themselves concerned about his development again when he was a year-and-a-half old.

“He wasn’t speaking at all. Like, he really didn’t make any noises. So we started speech, OT (occupational therapy) and he actually needed physical therapy because he never crawled,” she said.

When Rowen was 3, she and her fiancé, Justin Ellenberger, took him to the doctor because he was shaking. After blood work was done, the doctors immediately thought it was a thyroid issue.

Rowen was tested with an endocrinologist before being recommended for genetic testing. While the first round yielded nothing, Rowen was diagnosed after a second round of testing.

Schnur said they learned five of the six others also experience epilepsy. While Rowen doesn’t seem to experience seizures, she said he would undergo a 24- or 48-hour electroencephalogram over the summer to be certain.

“We do not believe we are seeing them, but there are times that we call him and he doesn’t respond. So (doctors) were like, ‘could he be having absent seizures, or is he just not answering?’ We do not know,” she said.

Furthermore, on two different occasions, she said Rowen started screaming while outside in the cold. When they got home, they found large, red lumps on his legs.

Doctors in the emergency room suggested he could be allergic to the cold, which was confirmed by an allergist. She was advised to keep an EpiPen handy in case the cold affects his breathing.

They also noticed he would get lethargic in the heat. While there is no test to determine a heat allergy, she said other tests revealed he can’t sweat.

“He becomes fire engine red, so we just tried not to be at the pool on the hot days,” Schnur said on Facebook.

She said when the family gets sick, he gets it the worst. Testing determined his immune system has an abnormal response and that he gained no immunity from any vaccines he received.

After years of testing and research, Schnur said they didn’t really feel like they got closer to understanding Rowen’s symptoms.

“We don’t even know if anything’s related,” she said. “That’s one of my biggest reasons for wanting to get ahold of these other people. Like, do you guys have thyroid problems?”

While Schnur said she was willing to go to any lengths to help her son, she admitted that the process of getting information from doctors has been frustrating.

“When you go to a specialist, you’re even like, ‘OK, we only have to wait three months to get to this next specialist.’ You go, and they’re like ‘go and try this other doctor.’ We just waited three months to get to you and thinking you were going to give us something,” she said.

She said people also told her that she might be able to find better, more specialized care in Philadelphia.

“We are decently close compared to a lot of people, but it’s still a seven hour drive,” she said. “Are we coming out to do one or two doctors and they’ll order tests and now we’ll have to come back. What are we looking at that point?”

On top of it all, she said she feels Rowen doesn’t deserve to put up with what he does.

“At this point, we go to a doctor and he is just normalized to getting blood work. That’s not even fair to him. My oldest will be like ‘mom, I don’t want to do any more testing for Rowen,’” she said.

Justin Ellenberger added that all the appointments take a lot of work, but they’ve become normalized to it.

“As far as the doctor trips and the therapies, this is the only way that it’s been,” he said.

Schnur said doctors have told her that they consult each other and even discuss Rowen’s case in board meetings, but no answers have been given.

“That doesn’t make us feel any better because there’s still no answers,” she said. “No one has the info that we’re looking for, and that’s scary. We have no idea if any of it is going to affect his life. We don’t know that answer.”

After enough frustration with doctors, she decided to make the post to see if it could connect her with someone who knows more.

Schnur said she was surprised and overwhelmed at how much traction her Facebook post got. The post received over 120 shares in the span of a week.

“Even that, I was just like … what? How did that happen? And it was quick,” she said.

The post connected her with supportive voices and even a woman from Ukraine who claims to be the mother of another person affected by the disorder.

However, complications, such as a language and timezone barrier have made communicating hard.

“It’s so difficult because Facebook is automatically translating, so now you’re trying to decipher what she was trying to say that Facebook translated,” she said.

Schnur said she is trying to keep her hopes in check in case it doesn’t end up helping.

“You’re kind of just keeping your distance, trying not to get too excited, like, do you have answers? And she doesn’t. She’s like, ‘no, we know the same thing as you,’” she said.

She said she is trying to take everything at face value, but knows social media generally doesn’t work that way. She said a lot of the advice they’ve received is just not available or applicable to Rowen’s situation.

“We’re trying to find the next step that’s correct for us,” she said.

Schnur said she tries to make the best out of the numerous appointments for the entire family.

“Our normal is like, we get to go to a Pittsburgh appointment, let’s go to the zoo after and make it somewhat fun to do that,” she said.

She said it’s a constant balancing act of making sure her children are having their needs met without feeling left out.

At the end of the day, Schnur and Justin Ellenberger are just happy that he smiles and laughs often.

“Our thing we are so thankful for is he is usually extremely happy. Running outside would just be like, that’s his happy place,” she said.

She said anyone who has any information on the disorder or can connect her with someone who does can reach out by emailing rowensuniquejourney@gmail.com.