Doctors told Joshua Gentis and his mother that his metabolic condition could eventually end his life. But the reality was that the doctors had no idea what exactly was wrong with Joshua other than the fact that he was only one of around 100 people in the entire world with the same condition. There was no cure, no real therapy and a dwindling sense of hope.
Since so little was known about what Joshua was going through, very little could be done to treat him. That is, until his mother enrolled him into a genetic testing program in British Columbia.
The New England Journal of Medicine published the results of the genetic testing and, spoiler alert, there’s a happy ending.
Not only did the report successfully identify the single gene linked to Joshua’s metabolic condition, but it also isolated different genes responsible for other medical conditions. In total, 11 new diseases were identified.
I know what you’re thinking: that’s all great, but how does the diagnosis help the patient? The very diagnosis is what gives medical professionals enough information to begin treating individuals properly.
Joshua, for example, was able to begin a personalized treatment specific to his condition. And as his mother points out in the video, just as the screen flashes to a clip of him walking on a treadmill with some support, he’s improving. It may only be a matter of time before other individuals with unknown conditions are able to begin improving too.
After the testing, Joshua was diagnosed with H-ABC syndrome, which influences his motor skills, balance and muscle coordination. Not his cognitive abilities.
“You’re giving a young man the hope for a future,” his mother explains. “Hope that he can be part of the workforce and be a contributing member of society.”
This breakthrough in genetic testing offers patients a new way to screen for the cause of a condition, and get an early diagnosis in order to receive personalized treatment.