Jacksonville toddler born with rare disease familial lipoprotein lipase deficiency

JACKSONVILLE, Fla. — On March 18, 2014, Lily Witherspoon's life changed forever. Her son Erin was born happy and healthy -- or so she thought.

“He’s just going through a lot since he was 8 days old,” she said.

You can't tell just by looking at him, but Erin's got a rare disease that only affects one in 1 million people. It’s called familial lipoprotein lipase deficiency.

In layman's terms, Erin's body doesn't produce an enzyme that breaks down fat, leaving his blood looking almost like a strawberry milkshake. He's been to Boston, Philadelphia, Dallas and Gainesville, Florida, to get consultations.

“At night, he barely sleeps. He literally has nights where he's, he's just balled up, and then he'll stand up. He’s like, flipping and trying to adjust to kind of make the pain subside,” Witherspoon said.

To help cut down on cholesterol and fat, Erin is on a very strict diet.

Despite insurance, medical bills are mounting and Witherspoon said it's hard to work when she frequently has to leave her job and care for her son. Going forward, she's looking to go to Europe or north of the U.S. border to get help for her baby.

“In Europe or the U.K. it's more common. The condition is more common, so you have more doctors that are knowledgeable about it. So I was thinking, 'Why not go there? Also Canada, so why not go there?' I won't beg for help, but what I will do is make sure people understand Erin is a special kid."

Witherspoon says the treatment in the U.K. only has a 50-50 success rate, but she's willing to try it to see if it helps Erin. If you want to help them get there, visit: https://www.gofundme.com/erinpreston

Cox Media Group