Clayton's Crusade: Chili cook-off to help families, aid research into rare disorder

Feb. 11--When Megan Gard was expecting her first child, everything seemed fine. She had a standard pregnancy and Clayton Robert Gard arrived at Terre Haute'sUnion Hospital with no apparent complications.

But nurses soon noticed "some rhythmic movements" and placed the seemingly healthy child in the newborn intensive care unit, said Gard, of West Union, Illinois.

"As soon as they laid him down under the bright lights of the NICU he had his first full body seizure at 18 hours old," she said.

During Clayton's first three months, doctors tried treating him with phenobarbital but the seizures continued. During a particularly severe episode, he was flown to St. Vincent's Hospital in Indianapolis where the medical staff "routinely pumped drugs into him and [the seizures] just wouldn't stop."

Some of the medication actually increased the seizure activity.

That's when Jacob and Megan heard something no parent would have been prepared to hear.

"I remember when [the doctor] came in and said, 'We've got about one thing left to try and then after that it's just going to be send you home and make him comfortable."

That "one thing" was a new drug for treatment of a rare genetic disorder, Sodium Channel Neuropathy 8A (SCN8A), then known to exist in only about 100 people worldwide.

Clayton's disorder had been diagnosed earlier at Riley Children's Hospital.

"For a while he was the youngest person diagnosed at 3 months," Megan said.

SCN8A, one of eight variants of Sodium Channel Neuropathy, causes epileptic seizures, Megan said. The risk to Clayton is so great, she quit her job so she could stay home in order to constantly monitor him.

When the seizures occur, "his whole body goes stiff, his legs ... and everything about him will stiffen up," Jacob said. "It closes off his windpipe and he'll stop breathing. We have to give him rescue medicine immediately, which should stop the seizures. In his case, though, it just lessens the severity."

The seizures can last nearly 90 minutes. With his current medication, however, Clayton's seizures have been limited to 30-60 seconds, according to the Gards.

The number of medicines the now 2 1/2 -year-old takes has also been reduced, from 28 pills a day to 15.

Still, Megan said, "you can't leave him alone. I can't run downstairs and change laundry when he's sleeping."

Light and noise, even the slightest sound, can trigger an episode.

"I was doing dishes and a dish slipped and clanked; it woke him with a small seizure," Jacob said.

Because they must carry rescue medication, an oxygen tank, a walker and therapy equipment, "it makes it difficult to go out and do things," Megan said.

In 2016, the Gards had "our little surprise baby," when Cassie Jo was born, Jacob said.

"I think (Cassie) is going to help us in the long run because they're so close in age," Megan said, "She kind of motivates him."

Clayton, who boasts an incredible, some say infectious, smile and scurries from toy to toy as best he can, is just now beginning to walk. Due to seizures, "he's lost the ability to say 'mom' four times," she said.

Both parents and Cassie have been tested for SCN8A and found to be negative.

For Clayton, "We have no idea what the future holds," Jacob said. "We try to be optimistic that he's going to continue to progress but we just have no idea what it's going to be day by day."

Thanks to increased use of genetic testing, about 250 SCN8A patients have now been diagnosed worldwide but few have reached adulthood. Many are wheelchair bound, breathe through a tracheostomy tube, are tube fed and have no head control.

The Gards have a Facebook page, Clayton's Crusade, and a growing list of other families to share their experiences and find support. Only three patients are in Illinois and they are in the Chicago area. Michigan has one case and Indiana none.

Because the disorder is so rare, the Gards want to help spread the word about SCN8A, raise funds for research and assist other families that are affected.

They have worked with Marshall Community Schools -- Jacob is a school board member -- to plan a chili cook-off to raise funds for research and to support "The Cute Syndrome," an organization that collaborates with families and gain information.

The organization's name came about because someone called one of the first children diagnosed with SCN8A "just so darn cute," Megan said.

Response has been overwhelming, the couple said, but the number of teams to prepare and serve their best chili recipes has been capped at 15 to ensure adequate space and sufficient electrical power.

Dave Taylor can be reached at 812-231-4299 or dave.taylor@tribstar.com. Follow him on Twitter @TribstarDave.

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