Five-year-old Carteret County girl battles rare disease
NEWPORT, N.C. (WITN) - February 28th is National Rare Disease day and one family in the east sharing their battle with a rare disease.
Five-year-old Saylor Baysden of Newport suffers from a disease called Syngap1, a disease that prevents the production of the Syngap1 protein in the body which is essential for proper cognitive function.
The Syngap Research Fund finds only about 1,164 known cases around the world, with just over 300 of those in the U.S.
Experts say seizures and intellectual delay are the most common symptoms though the disease is often improperly diagnosed as either Autism or Epilepsy.
The family encourages genetic testing as research on the rare disease continues to evolve, saying there are likely more children like Saylor with the disease who may not even know.
“You do have to push the doctors they see you for 15 minutes once or twice a year you know so they don’t, they’re not with her every day to see. She fit all the buckets but she fits so many buckets she didn’t fit in anywhere. She wasn’t the typical autism or intellectual delay, it was a combination of all of the above.”
The Baysden’s work with the Syngap Research Foundation. Over the past five years, they’ve raised more than $4 million in funds.
The foundation says all funds are completely devoted toward technology and research for medicines to help establish the Syngap1 protein in the bodies of people suffering from the disease.
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