North Country Inspiration: Josiah’s journey
WATERTOWN, New York (WWNY) - It’s not uncommon to find the Cabrera family at the playground.
Four-year-old Jayse and 2-year-old Josiah love climbing, trucks, and bubbles. Both are special little boys. Both have autism, so when Josiah was diagnosed, that was familiar territory. But his complications went further than that.
“He’s definitely one in a million,” mom Makenzie Cabrera said. “He has a very rare disease called Familial Cold Autoinflammatory Syndrome. Right now, we believe he’s the only case in New York and there’s only around 300 in the whole world with it, so he’s really one in a million.”
Josiah’s syndrome can cause blindness, deafness, bone deterioration, and organ failure. He’s suffered seizures, kidney failure, rashes, and swelling.
“He has Raynaud Syndrome, so his feet will turn purple from lack of circulation,” Makenzie said. “He has bone deterioration in both of his ankles, and he’s losing hearing in one of his ears. When we google it, most kids end up okay. But some do pass, and that’s the reality of it. Right now, he’s on a biological injection, which does cost about $19,000 each month, and sometimes insurance does not cover that. So, the debt does fall on us.”
Josiah has seen around 20 different specialists, but his syndrome is so rare, little is known of it.
“We travel all over and at the end of this year, we’re going to San Diego, California, to try clinical trials and other treatments and get resources because the founder of his syndrome is all the way out there,” Makenzie said, “so we’re doing everything we can for him.”
Josiah was diagnosed less than a year ago after five misdiagnoses. His parents advocate for genetic testing because they say Josiah could’ve gotten help sooner if they’d been granted the test.
“Trust your gut and don’t let doctors dismiss you,” Makenzie said. “Follow your instinct with your heart.”
The Cabreras raise awareness of the rare disease through blogging, research groups, and a nonprofit organization in Switzerland, which aims to find a cure.
“So hopefully, one day we’ll figure it out,” Makenzie said.
Despite the challenges and uncertainty, the family says teamwork helps them through it.
“Support,” dad Julious said, “and just a positive mindset.”
And bubbles. Lots of bubbles.
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