Asher’s Story: A Determined Little Boy Faces a Difficult Diagnosis

“We have a diagnosis for your son.”

Those seven words stopped Nate in his tracks. Leading up to that moment, he and his wife had spent more than a year seeking answers for their little boy, Asher. After a multitude of specialists, tests and therapy sessions, someone finally had an explanation for the developmental delays that had affected Asher since his earliest days.  

Asher was barely 3 months old when his mother, Jen, first noticed that something was off.

“I felt like his eyes weren’t tracking properly,” she recalled. By age 4 months, Asher had started missing developmental milestones. As time went by and his delays became more evident, Asher started doing early intervention therapies and was referred to Children’s Hospital Colorado for further evaluation.

From there, Asher was seen by several specialists. At 10 months old, he had an MRI to rule out a brain mass, but everything came back normal. Doctors agreed that something was amiss, but no one could pinpoint a diagnosis. As his parents continued to seek answers, Asher underwent surgery to realign his eyes, and he continued doing physical and occupational therapy. Yet as hard as he worked, Asher struggled to make progress.

“A few months after his eye surgery, I asked his therapist, ‘Shouldn’t he be further along than this?’ And she said yes.”

That’s when Jen and Nate decided to see Dr. Wendy Pierce, a physiatrist at Children’s Colorado who specializes in brain injuries, orthopedics and rehabilitation. She recommended that Asher, who was now 17 months old, undergo genetic testing.  

A devastating diagnosis

A month later, Nate got the call from the genetics specialist at Children’s Colorado. She said that Asher wouldn’t need to undergo any more tests: she had a diagnosis. One of the specialists on her team had reviewed Asher’s brain MRI from several months ago and discovered a uniquely shaped malformation on Asher’s brainstem. It was a telltale sign of Joubert Syndrome.

Nate is a practicing physician who had trained in pediatrics, but he had never heard of Joubert Syndrome, a rare disease affecting brain development.

“My mind went to the worst-case scenario.  I was thinking, ‘Is he going to die? How long do we have?’” recalled Nate.

Jen was at home alone when her husband called her with the news. She said she felt no immediate sense of relief upon learning Asher’s official diagnosis.

“My initial reaction was fear,” said Jen. “I just sat there and cried. It felt so scary.”

Asher’s parents finally had a diagnosis. But the road ahead was daunting, to say the least. Joubert Syndrome can cause cognitive delays, eye abnormalities, respiratory issues and low muscle tone, but the prognosis varies considerably for each patient.

“We had a name for his condition, but we still had no idea how it would affect his life,” said Jen. “Joubert Syndrome is so rare that there’s not a lot of information out there. Some kids never walk or talk.  Some die in the first year. There was such a huge spectrum of possibilities.”

Finding hope

Jen and Nate devoted themselves to learning everything they could about Joubert Syndrome. They spoke to specialists at Children’s Colorado, attended conferences and connected with other parents whose children had Joubert Syndrome across the country. Slowly, they began to piece together a picture of what the future could look like for Asher. In doing so, they found something that had been lacking for months: hope.

Asher’s parents also found an incredible community of support in the Children’s Hospital Colorado Therapy Care Clinic in Colorado Springs.

“We sought out every therapy we could find for him,” said Jen. “It’s the biggest part of our lives. Not only does the team help Asher, but their emotional support is huge for me.”

Asher does about 20 hours of therapy every week at Children’s Colorado and other clinics – everything from occupational and physical therapy to speech and hippotherapy with horses. 

“His therapists rejoice in Asher’s victories as much as I do. I can’t imagine our lives without them,” Jen said.

In recent years, there have been more and more victories to celebrate as Asher progressed from using a wheelchair to a walker to crutches to now walking independently most of the time.  He also went from using signs to finding his voice and learning how to talk.

“The other day at the clinic, he learned how to say one of his therapist’s names, and they basically threw a party. Every time he learns how to do something new, you can just see him light up,” Jen said.    

‘He’s a fighter’

Now 6 years old, Asher continues to work hard every day to reach new milestones. He loves books, music and playing with his cats, and he started kindergarten this year with kids his same age.

Asher’s parents say that their son’s tenacious and joyful spirit has been a huge blessing throughout his journey.

“He works so hard,” said Jen. “I’ve never seen a hint of a broken spirit.  He’s a fighter. No matter what he faces, those qualities will take him anywhere.”

Adds Nate: “He brings people so much joy, everywhere we go.”

These days, Jen and Nate don’t spend as much time worrying about what comes next. Instead, they just take things one day at a time and try to enjoy the everyday, mundane moments when Asher gets to just be a kid.

“The therapies can be a grind, and some days are hard. But when I look at Asher and see who he is and how far he’s come, I just know that he’s going to leave his mark on the world,” said Jen.