CLARK COUNTY, Ill. (WTHI) - Imagine your child being diagnosed with a disorder so rare, most doctors haven't heard of it.
News 10 met Megan and Jacob Gard and their kids Cassie Jo and Clayton. 2 1/2-year-old Clayton was diagnosed at 3-months-old with Sodium Channel Neuropathy 8A or SCN8A. It's also been nicknamed, "The Cute Syndrome."
It's a rare genetic mutation that causes seizures and delayed development among other symptoms.
The Gard's say there are many hurdles they're trying to tackle. That's because not a lot is known about the mutation.
They say one of the most valuable resources for information are other families. The Gard's connect with other SCN8A families on social media to share what medicines or techniques are working for their children.
The Gard family says they currently have to travel to St. Louis to see Clayton's neurologist. They say there are no other families in the area. Megan says she knows of one case in Michigan, and a few near the Chicago area.
Megan adds that Clayton goes to therapy three times a week. This includes speech therapy, physical therapy, and OT. She shares that 65% of kids over the age of two with SCN8A are non-verbal. Megan says they're blessed that Clayton is starting to say a few words like ‘no’ and ‘mom’.
Megan says a lot of the SCN8A kids aren’t able to lift their heads. They also have a weak core, so they have a hard time standing or walking. She says Clayton is also jittery, a lot of that is medication-caused, and some of it is the mutation.
Each year they go to a national meeting to connect with other families going through what they’re going through. There, clinicians and rsearchers go to share what research they've been able to do throughout the year. The gene SCN8A was isolated in humans by Dr. Michael Hammer, a geneticist who found the gene in his own daughter, Shay. February 9th is the second annual SCN8A awareness day.
The Gard's say funding for research is one of the biggest hurdles that needs overcome.
Megan says, "Because it's so rare, there's only about 250 known cases in the entire world now. Because it's so rare, there's not big funding for it. Most of the time it's families, parents of kids that are suffering with this mutation are the ones raising the money."
There is an opportunity to get involved in fundraising efforts. A chili cook-off is planned in Clayton's honor next month.
It will take place on February 13th from 5-7 p.m. central time in the Marshall High School Gym. Tickets will be sold at the door for $5.
All proceeds will go to The Cute Syndrome Foundation, where 100% of donations goes to researching this genetic mutation.
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