MAHOMET, Ill. (WCIA) — Friday was national Rare Disease Day, a time when advocates call on lawmakers to push for better treatment and funding for the 10,000 rare diseases impacting millions of Americans.

“The day just brings advocacy and awareness to the public and also people in the government where research and funding is happening,” said Abbey Houser, parent of a child with a rare disease.

Ashley Nash is a kindergarten teacher at Middletown Prairie Elementary in Mahomet. She’s also a mother to a daughter with Sanfilippo Syndrome: A hyper-rare genetic disorder affecting one in 70,000 children, including Kinley.

“It’s similar to childhood dementia,” Nash said. “So, she will peak, which she has, and then she continues to lose the skills that she’s gained.”

Houser is another mother in Mahomet who has experience with rare diseases. Her daughter Caroline has Coffin-Lowry Syndrome.

“It affects her cognitively, physically,” Houser said. “It’s a genetic condition and X-linked, and as a female with it, that means that females fall in a range of abilities. I would consider her mildly affected.”

Events for Rare Disease Day were supposed to happen this weekend in the nation’s capital.
However, after federal layoffs and funding freezes within the FDA and National Institute of Health, it was postponed indefinitely.

“The concerns are that when we’re making cuts at those agencies, the funding going toward rare diseases, and all diseases, will be impacted for research and supporting people that have these conditions,” Houser said.

“It’s concerning because of the needs of Sanfilippo kids or any type of rare kiddos that need that support,” Nash said. “It could be nursing, it could be medical supplies, anything in that regard.”

Both Houser and Nash joined thousands of Americans in adding their signatures to a petition from the EveryLife Foundation. It pushes government officials to provide a steady stream of support towards the cause.

“We signed a petition hoping that Congress knows that it’s important to save these kids’ lives,” Nash said.

The petition from the EveryLife Foundation was delivered to Congress on Friday with more than 11,000 registered signatures.