Family's experience with genetic testing inspires winning project in medical innovation challenge

CBC

01-05-2025

Alyson Cronkhite knew soon after giving birth that something was wrong with her son. Though he was born at a healthy weight, seven pounds 13 ounces, his weight soon dropped drastically. He also did not sit up, walk, or talk at expected times.
As medical staff tested the little boy for a possible genetic disease, results ultimately had to be sent to Finland for diagnosis, because her home province of New Brunswick does not have the ability to do it.
Now Cronkhite, a medical technologist, is part of a team that is working on possible solutions — and her experience helped inform a project that recently received some important funding support through a local innovation challenge.
Her story helped inspire Dr. Doha Itani of Saint John to create a project called Establishing Genetic Service in N.B., which won the $500,000 David Elias CHS Health Care Innovation Award on April 24.
Cronkhite said that the family was worried about her son immediately after he was born.
Her son underwent extensive medical tests "right from the start" — such as MRIs, ECGs and EEGs — but these all came back normal. Nobody in New Brunswick could tell them what was causing the issues.
After sending test results to Finland, Cronkhite learned that her son is one of just four people in the world with a disease that is so rare, it does not have a name and is referred to only as a "global developmental delay." Right now, the family has to travel out of province several times a year to meet a health-care provider.
Itani said the focus is developing the ability to do tests for serious genetic or hereditary diseases at home. Doing this "will dramatically cut current wait times, leading to greater access to diagnostic testing and screening for preventative, life-saving care right here in New Brunswick," the leaders said in a statement.
Itani said that all of the functional genes in someone's DNA are referred to as "whole exome." In a statement, she likened the project to "copying the entire book… but looking for misprints in only the chapter that is relevant."
The overall goal of the project is to improve access to care in New Brunswick so that patients do not need to leave the province to receive it, Itani said. She also said that New Brunswick's population is now large enough to add the testing that people need.
The Medical Innovators' Challenge was a Dragon's Den -style event organized by the Saint John Regional Hospital Foundation.
Another project, titled Meet the Kids Where They Are, was awarded the $100,000 Community Impact Award.
Meet the Kids Where They Are will "expand to add a school and health liaison role in three Saint John schools," Alex Davis, a consultant working with the hospital foundation, said. "This will help support children facing social and health challenges by providing timely health care, early interventions and community resources."
According to the foundation's news release, the award "was created to celebrate solutions that extend health care access beyond hospital walls."
Meet the Kids Where They Are is led by Dr. Sarah Gander, a social pediatrician.