Orange County native raises awareness of familial cold autoinflammatory syndrome after toddler's diagnosis
A mother from Orange County is raising awareness about a rare genetic syndrome her 2-year-old son was recently diagnosed with.
Mackenzie Cabrera is from Cornwall and now lives outside of Syracuse. She says her son, Josiah, was diagnosed in December with Familial Cold Autoinflammatory Syndrome
Only an estimated 300 people are currently diagnosed with it in the United States, according to the Autoinflammatory Alliance. The National Institute of Health says symptoms include a rash, fever and joint paint following a cold.
“We were in and out of the hospital for months at a time. We did over 250 tubes of blood and seen over 15 different specialists in Westchester, Newburgh, New York City, Boston and up here in Syracuse. We traveled everywhere," said Cabrera.
Cabrera says a nonprofit eventually helped her pay $6,000 for genetic testing that wasn’t covered by insurance and ultimately diagnosed her son with an even rarer mutation of the syndrome that causes more severe symptoms.
She hopes to raise awareness to syndrome and what she says is the need for universal genetic testing at birth.