NEWPORT, N.C. (WNCT) – Tuesday was Rare Disease Day and one family in Eastern North Carolina knows all too well what it’s like to battle one.
Saylor Baysden is 5 years old. Just like every other kid, she loves to jump on the trampoline, swing on the swing set and ride on her family’s golf cart.
Saylor is also 1 of 1,100 people in the entire world battling a genetic disease known as SYNGAP1.
“Funny thing is our neurologist didn’t really recognize the diagnosis because it was something that she had never heard of,” said Saylor’s mom, Corey Baysden.
Saylor was diagnosed with autism in 2020 and then epilepsy shortly after. Her doctors recommended genetic testing to figure out what was going on.
“We had the first genetic panel done; it came back normal. And then we went deeper and had the second one come back as positive for SYNGAP1,” said Baysden.
It’s a disorder that leaves people with only 50% of the SYNGAP protein, causing symptoms like low muscle tone, development delays and seizures.
“She will have to have care her entire life unless we’re able to miraculously come up with a cure here in the next few years, which we’re hoping happens,” said Baysden.
Mom Corey Baysden got to work researching and trying to find people out there who understood what their family was going through. That’s when she found the SYNGAP Research Fund.
“We help each other and also give the doctors information and help them learn. And they’ve established little SYNGAP centers across the United States and in other countries to help too,” said Baysden.
Now, they’re sharing her story to get the word out about the disease and how genetic testing helped them get the answers they needed.
“Don’t wait. If your gut instinct is telling you something’s wrong, seek out information, ask your doctor, and really hone in that you feel like something’s wrong,” said Baysden.
To read more about SYNGAP and genetic testing, click here.