KANSAS CITY, Mo. — The plight of parents whose children have rare genetic conditions can be demanding and discouraging.
Millions of families across the world have children living with rare diseases, including at least one family in the Kansas City metro. This Saturday, Feb. 29, is Rare Genetic Disease Day.
Looking at the angelic face of 4-year-old Emerson Schrivener, you’d never suspect anything was wrong. She seems like a perfect little girl with blonde curls and a squeaky pig toy of which she’s rather fond.
Emerson’s mom, Destiny Moser, said Emerson is one of roughly 500 children in the world diagnosed with Niemann Pick Type C, a genetic condition that, according to doctors at Children’s Mercy Hospital, could resemble Alzheimer’s Disease or dementia.
“She’s nearly at the two-year mark of receiving a drug that isn’t approved by the FDA. The drug itself isn’t stopping the disease progression, but it is slowing it down,” Moser said.
This family is one of many that’s excited to see the Chidren’s Mercy Research Institute expanding.
Scientists there are already searching for cures for thousands of rare diseases. Children’s Mercy Hospital will move those researchers into their own facility within the next year.
Dr. Tomi Pastinen, director of Children’s Mercy’s Genome Center, said his group employs hundreds of researchers who are hungry for methods of getting kids into treatments that can help them.
“There is definitely hope,” Pastinen said. “I think we have to think of rare diseases collectively. Most of them are unsolved. The grand prize for us is to give answers to those over two thirds of families who don’t have answers today.”
The new building won’t officially open until spring 2021.
Pastinen said roughly 50,000 families in the metro have a child with a rare disease. He said only 20% of families with children living with a rare disease know what’s causing the condition.
The upcoming addition to the hospital can help find answers, Pastinen said.
“Our hope is that with research and science, we’ll meet her where she’s at, and it will be there before it’s too late for Emerson,” Moser said.