CHARLOTTE, N.C. (WBTV) - Most of you have probably never heard of SCN2A. It’s a “sodium channel mutation.” I know – I didn’t get it either. But after researching what this Catawba County boy was living with, I can tell you it means neurons and muscles aren’t firing properly, causing uncontrollable seizures.
Koltin McKinney, from Conover, was diagnosed with this rare disorder at 1-month-old. He started with one seizure. Then they started coming in waves – as an itty-bitty baby he was having multiple seizures a day. For months, the intensity and frequency increased.
A trip to Boston Children's Hospital for extensive genetic testing revealed one of Koltin’s parents – either mom Casey or dad Tyler – was a carrier for this rare genetic variation.
The Hospital treat him successfully, and his parents are thrilled to say that Koltin is now 5-and-a-half and will be three-years seizure-free in March.
That’s the good news.
The tougher news is that while in Boston, neurologists discovered Koltin also lives with Myotonia. It’s similar – though not exact – to Muscular Dystrophy.
Hard diagnosis for an outdoor-loving, four-wheeler-riding child.
“We’re still learning about how Mytonia will impact him,” Casey said. “We know his muscles contract and spasm. We know it’s rough on such a little body. We fear that if it isn’t well-controlled soon, his muscles can permanently break down and weaken his organs.”
Here’s a more visual way to understand what this child goes through: Imagine having several intense Charley Horses that happen several times throughout the night.
Every night, Koltin’s move and twitch, he can’t control it.
“He’ll wake up crying and screaming about how much it hurts,” Casey said. “It starts when he’s trying to rest. The pain is in-and-out so he can get some sleep, but when it hits, it’s bad.”
Lately, Casey said, the spasms are also happening when he wakes.
“Luckily, it disappears during the day and he’s comfortable then,” she said. “Though I notice when he plays outside that he falls more than other children, because his legs give out.”
All of this is obviously a primary concern for Koltin's family. They’re heading back to Boston’s Children’s at the end of March for more tests, labs, and studies.
“We can’t say enough good things about this hospital,” she said. “They communicate with us well and answer any question we have. In fact, when Koltin was younger and still seizing, we controlled his seizures with Boston over the phone.”
None of it's easy, but Casey says Koltin isn’t hampered by his weak legs... and in fact, pushes through to thrive.
“He’s outside if and when he can be,” she said. “Always. He loves to ride and run in the daytime… and… well… is learning to always pick himself up along the way.”
I swear these kids teach us all.
*Editor’s note: This is about one of #MollysKids, children WBTV Anchor Molly Grantham follows closely on her Facebook page. It was first published there, which is why it’s written in a personal way. For years Molly has followed hundreds of kids with uphill medical battles. Find this story and updates on all #MollysKids here.