Racine family to hold fundraiser for daughter diagnosed with ultra-rare disorder

 

RACINE, Wisc. (CBS 58) -- Eliciana "Lici" Gonzales, 9, sits on her living room couch Friday morning, with her pink glasses perched on her nose.

Also in the living room with her are her grandmother, two younger siblings, and her mother, Amy, who describes her as "sassy with a huge personality."

"She loves to play, loves other kids, and getting attention," Gonzales continued.

But it's taken a lot to get to this moment.

Gonzales first noticed something was different about Lici when she was just six-months-old.

"She wasn't trying to crawl, sit, anything," Gonzales told CBS 58's Ellie Nakamoto-White, adding that Lici was a "hard to soothe" and "fussy" baby.

After visiting multiple doctors, including a chiropractor, therapist, pediatrician, and a neurologist, Gonzales said it wasn't until Lici's genetics doctor in Madison referred them to the Undiagnosed Diseases Network. 

“Usually like 20,000 people apply for it a year and usually like 20 to 30 get approved and she was immediately approved," Gonzales said. 

From that point forward, Lici underwent years of testing before finally ending up at the Boston Children's Hospital in 2017.

“September 12, 2017, we got the call that she was the fourth in the world with CAMK2B," Gonzales said.

According to CAMK2.org, "CAMK2 — an abbreviation for calcium/calmodulin dependent protein kinase 2 — is a family of four similar proteins that are abundant in the brain and important for normal electrical signaling."

The gene disorder affects both mobility and brain function. It is so ultra-rare, that when Lici was diagnosed, she was only the fourth person in the world to receive the diagnosis. Since then, there are still less than 300 people who have CAMK2.

“Pretty much once she hit seven, eight-months-old, she just really never grew from there like mentally, physically," Gonzales said.

Lici is wheelchair-bound and can't speak. She also requires a special diet with no sugar, starch, or lactose, and has to be fed using a tube through her small intestine during a 15-hour feeding overnight. 

“She just wants to be like any other kid," Gonzales said. "She just can’t physically do everything, but she still wants to try.”

Because CAMK2 is so rare, there hasn't been much research into the disorder, leaving thousands of questions with very few answers. 

That's why Gonzales is holding a fundraiser on Saturday, July 24, at The Lanes on 20 in Mt. Pleasant.

All proceeds raised will go toward research efforts.

“It’s hard just to know that your daughter finally has an answer but then she also doesn’t, because no one knew anything about it," Gonzales said. 

The fundraiser will be held from 11 a.m. until the early evening and all are welcome.

There will be dozens of baskets filled with goodies for a raffle, 50/50s, and a bags tournament with walk-ins welcome until about 11:30 a.m. 

For more information on the event, click here or follow #LiciStrong on Facebook here. 

To donate directly to the CAMK2 website, click here.