New Down syndrome research gets mixed reactions from parents

Published: Jul. 19, 2013 at 9:47 PM HST|Updated: Jul. 19, 2013 at 10:07 PM HST
Email This Link
Share on Pinterest
Share on LinkedIn

HONOLULU (HawaiiNewsNow) - Breakthrough research has created excitement in the genetics field. The University of Massachusetts Medical School has found a way to turn off the chromosome that causes down syndrome.

In Hawaii five to eight babies a year are born with Down syndrome. It is the most common birth defect. Doctors say the new research is exciting because it's the first time someone has been able to shut off a gene, although not everyone agrees that's the right thing to do.

"Not too high," said Emily Keane, as her father Darryl pushed her on a swing.

Emily is 22 years old and brings a world of joy to her family.

"She is very social, she likes to have friends," said Karen Keane, Emily's mom.

Emily was born with Down syndrome and cerebral palsy which makes it difficult for her to have a job. So when the family heard about the breakthrough research that doctors found a way to turn off the extra chromosome that causes the Down syndrome they were excited and would have done it had it been an option for Emily.

"Yes absolutely because it would open up more possibilities for her. She wants to do everything, she wants to be like everybody else and that would make that possible for her," said Karen Keane.

"The universal thing is that the kids are a blessing but the other side of it is we're always looking for ways to help improve their quality of life," said Darryl Keane, Emily's dad. "The medical research if it can help we are definitely open to that."

We also met five year old Gracie McComas.

"She's an amazing little girl who has the spirit of a lion for sure," said Maureen McComas, Gracie's mom. "She's a child just like any other five year old child. She wants to play. She wants to have friends. She wants to dress up in cute girly clothes so she's just like any other 5 year old little girl."

Maureen McComas adopted Gracie at birth knowing she had Down syndrome and says she wouldn't mess with genetics to change her.

"They need to find a cure for cancer. They do not need to find a cure for Down syndrome. People with Down syndrome are beautiful happy fun individuals who will teach you the true meaning of what unconditional love is," said McComas.

The research is still years away from being put into practice and wouldn't benefit current cases of Down syndrome. But doctors are excited about the future possibilities.

"This is the first time we saw someone being able to turn genes off and not just one gene but many genes all at the same time," said Dr. Peter Bryant-Greenwood, Director of Genetics and Molecular Diagnostics at Queen's Medical Center. "Yes we have to always be wary of messing with people's genes but I think being able to turn ones on and off are very helpful especially if you have a handle on the side effects."

Another reason Dr. Bryant-Greenwood is excited is because if one gene could be turned off it could lead to other breakthroughs in turning off genes dealing with things like Alzheimer's, Parkinson's or cancer. He also believes the science should be kept to dealing with medical conditions.

"I want my child to be a super genius so I'd really like to turn on the smart genes or I really don't want someone that is going to be real aggressive so I want to turn those genes off. We really don't have that kind of technology and we have to be careful we are not creating designer individuals based on people's preferences and we're limiting this technology to diseases," said Dr. Bryant-Greenwood.

As for turning off Down syndrome, it's a decision almost impossible to make unless you've been in their shoes. So the hope is eventually no one will have to decide if the syndrome is gone.

Follow Tim Sakahara:   

Copyright 2013 Hawaii News Now. All rights reserved.