Peoria family promotes Rare Diseases Day for 7-year-old son

“We have lots of people in our community who spend months, if not years, looking for an answer,” said Marshall, a Peoria resident who is a board member for The Global Foundation for Peroxisomal Disorders.

A definitive diagnosis is something people with rare conditions often struggle to get. Peroxisomal biogenesis disorder-Zellweger spectrum disorder is indeed rare — only about 80 children are born with it in the U.S. every year.

“That breaks down to about three or four kids in Illinois born with it each year,” said Marshall. “Most clinicians have never even seen kids with these conditions. Maybe it was mentioned in a class at some point, but it’s probably not something you are gonna see in even a whole career.”

Rare diseases present difficulties more common ailments don’t. From drugs, to treatment protocols, to cures, rare diseases are lacking answers, so advocates created Rare Disease Day. It’s being observed around the world on Feb. 28, with the goal of raising awareness and increasing support for research.

While Ethan is a member of a very small club, he is part of a large segment of the population when you combine all the people suffering from more than 7,000 rare diseases across the globe.