Lowcountry family raising awareness for rare diseases


By Lillian Donahue|February 28, 2021 at 8:34 PM EST - Updated February 28 at 8:34 PM

CHARLESTON, S.C. (WCSC) - Sunday marked National Rare Disease Day to raise awareness for thousands of unique and uncommon conditions.

At just two weeks old, Abby Cate Zaucha’s symptoms began baffling both her parents and doctors.

“It presented with symptoms like acid reflux or milk protein allergies,” Mother Melissa Zaucha said.

After thousands of dollars and months of trial and error, she was diagnosed with Congenital Sucrase-Isomaltase Deficiency, or CSID, which makes it impossible to break down certain sugars and starches.

The disease only affects 0.2 percent of North Americans.

“So it was just a lot of trial and error leading up to the diagnosis.” Zaucha said.

She wants to raise awareness for all rare diseases and tells parents to not give up if they feel something is wrong with their child.

“What I think is so important is that mom’s just trust their instinct and if they feel that something’s wrong with their baby to just keep pushing,” Zaucha said.

Altogether, rare diseases affect between 25 million to 30 million Americans, according to the National Human Genome Institute.

Copyright 2021 WCSC. All rights reserved.