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Does Down syndrome need a cure?

By Leah Linscheid, llinscheid@wkbt.com
Published On: Dec 24 2013 03:15:12 AM CST
Updated On: Aug 25 2013 06:56:35 PM CDT

WKBT, News8000.com

WEST SALEM, WI -

Matthew Fredrick is 5 years old, enjoys playing with toy farm animals and his older brother, Robbie, and loves solving puzzles.

Mattie also has Down syndrome.

“There are challenges,” his mother, Kim, said of his condition. “It’s different for every person with Down syndrome, there’s a range of abilities. Probably Matthew’s biggest challenge is he doesn’t talk yet.”

The condition affects cognitive and physical development, and an average of 5,000 children a year are born with it in the U.S. Mattie was diagnosed shortly after birth, his mother says.

For his mother, Mattie’s Down syndrome is as much a part of him as his love for puzzles and Legos. Because of how integral those pieces are to making Mattie who he is today, Kim says she wouldn’t change a thing about him.

“Down syndrome is a part of who Mattie is, and that’s part of his personality,” she said. “Would I want to totally change his personality? No, absolutely not.”

The conversation surrounding a cure for the condition – largely a hypothetical dialogue – has become louder after scientists at the University of Massachusetts recently released a study that successfully silenced the chromosome responsible for Down syndrome.

Individuals with Down syndrome have an extra copy of one chromosome in all their cells. According to Gundersen Health Systems Genetic Counselor Kevin Josephson, the study essentially turned off genes on that chromosome in stem cells donated by a person with Down syndrome.

While Josephson said the study was a breakthrough moment in research for Down syndrome, it’s far from a cure to the condition.

“To say there’s even a cure on the horizon is really a long, long stretch,” he said. “In an individual that has Down syndrome, they have this extra chromosome in all the cells in their body, and if it’s present in all the cells of the body, how do we turn that extra chromosome off and when?”

The notion that a cure is a long ways off is welcome news for Kim and her son, though she said with the study could come therapies that could simplify everyday life for Mattie.

“Would I want to take away some of his hurdles that he has to overcome to be able to do things that come more easily to other people? Yeah, anything I can do to help with that,” she said. “But as far as curing Down syndrome, I think that’s an overstatement of what needs to be done or what needs to happen.”

“I don’t think there needs to be a cure for Down syndrome,” she said.

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