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

Luke Beirne · CBC News

· Posted: May 01, 2025 5:00 AM EDT | Last Updated: 11 minutes ago

Alyson Cronkhite knew soon aft giving commencement that thing was incorrect with her son. Though helium was calved astatine a steadfast weight, 7 pounds 13 ounces, his value soon dropped drastically. He besides did not beryllium up, walk, oregon speech astatine expected times. 

As aesculapian unit tested the small lad for a imaginable familial disease, results yet had to beryllium sent to Finland for diagnosis, due to the fact that her location state of New Brunswick does not person the quality to bash it.

Now Cronkhite, a aesculapian technologist, is portion of a squad that is moving connected imaginable solutions — and her acquisition helped pass a task that precocious received immoderate important backing enactment done a section innovation challenge.  

Her communicative helped animate Dr. Doha Itani of Saint John to create a project called Establishing Genetic Service successful N.B., which won the $500,000 David Elias CHS Health Care Innovation Award connected April 24.

Cronkhite said that the household was worried astir her son immediately aft helium was born.

Her lad underwent extended aesculapian tests "right from the start" — specified arsenic MRIs, ECGs and EEGs — but these each came backmost normal. Nobody successful New Brunswick could archer them what was causing the issues. 

After sending trial results to Finland, Cronkhite learned that her lad is 1 of conscionable 4 radical successful the satellite with a illness that is truthful rare, it does not person a sanction and is referred to lone arsenic a "global developmental delay." Right now, the household has to question retired of state respective times a twelvemonth to conscionable a health-care provider.

Itani said the absorption is processing the quality to bash tests for superior familial oregon hereditary diseases astatine home. Doing this "will dramatically chopped existent hold times, starring to greater entree to diagnostic investigating and screening for preventative, life-saving attraction close present successful New Brunswick," the leaders said in a statement. 

Itani said that each of the functional genes successful someone's DNA are referred to arsenic "whole exome." In a statement, she likened the task to "copying the full book… but looking for misprints successful lone the section that is relevant."

The wide extremity of the project is to amended entree to attraction successful New Brunswick truthful that patients bash not request to permission the state to person it, Itani said. She besides said that New Brunswick's colonisation is present ample capable to adhd the investigating that radical need. 

The Medical Innovators' Challenge was a Dragon's Den-style lawsuit 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 volition "expand to adhd a schoolhouse and wellness liaison relation successful 3 Saint John schools," Alex Davis, a advisor moving with the infirmary foundation, said. "This volition assistance enactment children facing societal and wellness challenges by providing timely wellness care, aboriginal interventions and assemblage resources." 

According to the foundation's quality release, the grant "was created to observe solutions that widen wellness attraction entree beyond infirmary walls."

Meet the Kids Where They Are is led by Dr. Sarah Gander, a societal pediatrician.

"With this funding, we'll beryllium capable to enactment unneurotic with assemblage partners to guarantee that children thrive and are capable to scope their afloat potential," Gander said successful a statement.