Who knew that good ol’ colonialism could be a leading cause of rare diseases?!
At least, that’s the case for many Quebecers.
Tyrosinemia, which affects about 1 in 100,000 babies worldwide, affects 1 in 16,000 babies. In some regions, the prevalence is as high as 1 in 1,846!!
What makes Quebec so special? As News-Medical.net explains, it’s the genetic founder effect. Because Quebec was founded by a small population of colonists without a lot of new blood getting mixed in, the likelihood of inherited diseases or defects increases with each passing generation.
And unluckily for Quebecers, that includes hereditary tyrosinemia.
For those who don’t know, tyrosinemia is an amino acid disorder which is inherited through a gene mutation from both parents. It prevents the body from breaking down tyrosine, which causes build up in the body, especially in the liver. Without treatment, this can be fatal.
In fact, before advances in treatment, few children lived passed 2 years old.
Thankfully, today we live in an age of incredible research and medical progress.And because Quebec has such a high population with tyrosinemia, they have been on the front lines!
The Medical Genetics Service of the Sainte-Justine UHC conducted a tyrosinemia treatment study for 25 years evaluating the impact nitisinone had on patients with tyrosinemia.
Their findings were incredible!
If a newborn is screened for tyrosinemia at birth, begins treatment right away, and follows a specific diet, within 5 years the disease was nearly undetectable! Not only that, but many patients experienced relatively normal health for 18 years or more! It’s amazing how medicine can change the odds.
One of the crucial elements of this study was that in Quebec, all newborns screenings include testing for tyrosinemia. In the U.S., the tests included in newborn screenings vary from state to state. So make sure you look up what the standard practice is in your state.
Early testing and early treatment could save a life.
