Halifax mom questions Down syndrome suppression

A Halifax mother is questioning a recent breakthrough that disables the gene that causes Down syndrome, saying the quest to eliminate the condition is akin to "cultural genocide."

Renee Forrestall, whose daughter Marie Webb has Down syndrome, said researchers who are looking for ways to prevent and eliminate the genetic disorder are missing the mark.

"There's the perception that this is almost a type of cultural genocide, that our children represent an international global community," she told CBC News.

"They have similar cultural characteristics no matter where you find people with Down syndrome in the world. Like I said, there's a huge movement across the world now, a global grassroots movement to preserve and to bring the reality of Down syndrome to the public eye."

In a study published last week in Nature, scientists at the University of Massachusetts Medical School said they'd found a way to suppress the effects of the extra chromosome that causes Down syndrome, which affects 500 Canadian newborns each year.

Humans are typically born with 46 chromosomes in each cell, but Down syndrome occurs when an extra copy of chromosome 21 is produced. This "trisomy 21" can lead to cognitive disabilities, early-onset Alzheimer's disease, infertility, shortened life expectancy and many other health effects.

Forrestall said her 22-year-old daughter is just like any other, who loves to paint and has a vibrant life.Webb's work will be on display at theArt Gallery of Nova Scotiain mid-September.

"The people with Down syndrome are misunderstood, the families are misunderstood," said Forrestall.

"Any cultural community when people are not in it and when they're looking from it from the outside and telling us what needs to happen, rather than listening to the community."

The U.S. researchers said they used lab-grown stem cells with Down syndrome and spliced in an RNA gene called Xist, which normally functions to muzzle one of the two X chromosomes found in female embryos.

Xist functioned to modify the structure of the extra chromosome to deactivate most of its genes and prevent the production of proteins and other elements.

Forrestall said she sees the situation as a civil rights issue.

"We've got a genetically similar community, visible minority who are being targeted and terminated globally. People think, 'Well, this is the way it is and these people just shouldn't be,'" she said.

"That whole attitude really needs to change and has changed, it's changing all over the world, yet I think people outside of the community don't see this yet."