Hope for Harlin: Cape Girardeau Co. toddler battles rare condition

CAPE GIRARDEAU, Mo. (KFVS) - Two-year-old Harlin Luhring will instantly steal your heart.

With his thick brown hair and his contagious smile, Harlin can make just about anyone melt.

“He, I would say, changed our way of how to love,” said Amanda Luhring, Harlin’s mom.

“He’s the happiest little baby,” said Tarl Luhring, Harlin’s dad.

In fact, it doesn’t take much to make him laugh.

Even the simplest thing, like his father crumpling up a piece of foil makes him giggle.

Harlin has two older siblings

Kylie is 10, and Hudson is 4.

Tarl and Amanda Luhring knew early on that there was something much different about their youngest, Harlin.

“Once he was born, at birth we noticed some struggles with eating,” said Luhring.

Things progressed, and he’s now 100 percent tube fed.

“Once he stopped meeting any milestones, we would get questioned at the doctor, is he holding his head up? Is he smiling? No, he sleeps all the time,” said Amanda Luhring. “He can’t hold his head up, he was never able to sit up. He still can’t sit up.”

After many doctors appointments, genetic testing revealed the results.

At 13-months-old, Harlin was diagnosed with a condition called, KIF1A.

“Harlin is like one of two children with his variant,” said Amanda Luhring,

KIF1A is a neurological disorder that doctors and researchers are still trying to understand.

“Right now, we know around the world of less than 300 people with the condition,” said Dr. Wendy Chung. “I can tell you there are many people who are in disguise who have been called cerebral palsy, but I can tell you they have KIF1A.”

Dr. Wendy Chung is a clinical geneticist.

She works at Columbia University in New York City and studies rare conditions like KIF1A.

“It’s only in the last 3 to 5 years that anyone has been diagnosed with the condition,” said Dr. Chung. “It can be called or recognized by doctors as everything from cerebral palsy, to epilepsy to hereditary spastic paraplegia to optic atrophy. It’s confusing to people because there’s such a wide range of symptoms associated with it.”

Harlin has suffered from several devastating symptoms.

“Cerebral palsy, hypotonia, optic nerve atrophy, seizures...a lot of the kids have many seizure disorders,” said Amanda Luhring.

They have a nurse at the house daily, as Harlin requires a lot of care.

“We have to be on top of it, and we have to have someone watching him 24/7,” said Amanda Luhring.

Harlin’s parents are always worried about him getting sick.

They have been extra cautious, especially during the pandemic.

“I think the hardest part is the acceptance and going through the grieving phase that he’s not going to have a normal life,” said Amanda Luhring.

That is something that’s hard to explain to their other children.

“We have told them to just soak up the time they have with him, because we’re pretty honest with them,” said Amanda Luhring.

That’s because they don’t know what tomorrow holds.

“Once we accepted the reality, we were able to have hope,” said Amanda Luhring.

They have hope for answers, and one day a cure.

“Even though it might feel like baby steps as we are moving forward, if we are all making baby steps then together we are making a giant leap forward. So, I’m very hopeful for the next 5 to 10 years and what we will be able to do together,” said Dr. Chung.

Dr. Chung said time is a factor because they can literally see the brain shrinking in some of the patients.

“The families have a hash tag, they call it Stop the Clock, and that’s what we need to be able to do is stop that clock of degeneration and may be if we can, wind back the clock at some point,” said Dr. Chung.

She said because they are now starting to learn more about the condition, she suggested it may be time for some families to go back to the doctor.

“For those who have children with some sort of disability, learning disability, autism, epilepsy, neurological conditions...it’s time to go back and see an neurologist or a geneticist who can help with this type of testing,” said Dr. Chung.

While this condition has stolen so much from Harlin, like his sight, he has taught his family so much about what he does have.

“He sees things differently because he can’t see,” said Amanda Luhring. “Like, he takes in the feel of the wind and he will crack up laughing. Or, you step into the sunshine and he can feel that warmth and he just glows from it.”

They’re doing their best to take it day by day.

“I don’t really know how to explain it, but we notice the littlest things in life and we just soak it all in that we have with them,” said Amanda Luhring.

They hope Harlin’s story helps other children like him in the future.

Click here to find out more about KIF1A and ways to get involved in the race to stop the clock of degeneration.

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