Possible cure for Down Syndrome... is that a good thing?

[OnMyWayID 1,489]

From NBC News:

Could it be a 'cure'? Breakthrough prompts Down syndrome soul-searching

In the 14 years since her daughter, Rachel, was born with Down syndrome, Jawanda Mast has always been clear that she’d change the condition if she could.

“I couldn't love her more, but I would give almost anything to take away that extra chromosome,” the Olathe, Kansas, mom wrote on her blog. “While I may know she’s perfect, the world doesn't.”

But when Massachusetts scientists announced recently that they've found a way to silence the chromosome that causes trisomy 21, also known as Down syndrome, it rocked Mast – and the rest of the disability community.

“It’s so hard to imagine you could actually do that,” Mast told NBC News. “Yes, I would take away the challenges, I would take away the health risks. But now I also stop and say, ‘Oh my goodness, how would that impact the rest of her?’”

Hailed as a “cure in a Petri dish,” the research by scientists at the University of Massachusetts Medical School is the first to find that it may be possible to switch off the genetic material responsible for the condition that causes cognitive delays, heart defects and shortened lifespans.

The development is expected to help create new treatments for problems caused by Down syndrome -- but it also raises the prospect of eliminating the condition entirely.

Since it became public last month, the breakthrough has sparked a firestorm of reaction among parents, advocates, ethicists and people with the condition, said Dr. Brian Skotko, a medical geneticist and co-director of the Down Syndrome Program at Massachusetts General Hospital.

“This research really launches a million questions,” Skotko said.

On one hand, almost everyone agrees there’s a need for treatments to help the 250,000 people in the U.S. living with Down syndrome, including the nearly 7,000 babies born with it each year.

On the other hand, it’s unclear what costs there may be to shutting down the mechanism that creates people who offer lessons in patience, kindness -- and what it means to be human.

"If Down syndrome were completely cured, the world would lose something from the absence of that culture," said Skotko, who has a sister with the condition. "There is something positive that people with Down syndrome contribute to the world."

Brian Long of Boulder, Colo., is the father a 19-year-old son with Down syndrome. He welcomes the research, which could lead to treatments to boost Connor’s intellectual abilities and speaking skills and prevent disease. But he also wonders how tinkering with chromosomes could alter the essence of his son.

“So much of Down syndrome does impact the personality and character of the person,” said Long, 54. “In Connor’s example, we've known him for 19 years. We don’t want a wholesale change.”

Advocates like Julie Cevallos, vice president of marketing for the National Down Syndrome Society, emphasize that the research is still early.

“When you go as far as a ‘cure,’ that’s when folks step back and go: ‘We’re not looking for a cure. We’re looking to help and support people with Down syndrome live healthy and productive lives,’” said Cevallos, mother of a 5-year-old with the condition.

David Egan, a 35-year-old Vienna, Va., man with Down syndrome, said he applauds the progress in part because it might help with some of the social stigma that comes with the disorder. He has friends who've been made fun of because of their disability, who have a hard time coping with the condition.

“I’m not saying to shut it down completely,” said Egan, who has worked for 17 years in the distribution department at Booz Allen Hamilton, the technology consulting firm. “I would say just to understand more about it.”

But ethicists fear that genetic manipulation could spell the end of the disorder – and of people who have it.

“We now see very few persons with the symptoms of polio or the scars of smallpox,” said Art Caplan, head of medical ethics at New York University Langone Medical Center. “The same fate, despite the protests of some, awaits Down syndrome and other genetic diseases if engineering genes creates cures.”

That strong reaction surprised Jeanne Lawrence, the professor of cell and developmental biology who led the research. People may misunderstand the scope and promise of her work

....... and it continues if you are interested:

http://www.nbcnews.com/health/could-it-be-cure-breakthrough-prompts-down-syndrome-soul-searching-6C10879213

Reminds me of the debate in the 80's and 90's from the deaf community about similar fears.

Edited August 12, 2013 by OnMyWayID

[TBoneTX 45,498]

In general, I believe that anything that can possibly be cured should be cured, si man.

[Penguin_ie 5,994]

***** one post removed for bad language. Post returned below without the offending words ******

When the research can be independently verified in Houston at the Houston Medical Center, then yes, I'm all in.

I am sad to say that this report is about 12 years late, since that G W Bush decided genetic engineering and stem cell research not to be done in the USA.

[Penguin_ie 5,994]

It sounds like PGD (pre-implantastion genetic diagnosis) would be needed for this. If you do IVF anyways, why not simply select healthy embryos to implant?

I have friends who, after having a severely autistic child, did IVF and selected only girl embryos to implant as the chances are lower girls have autism. I've no problem with that.

Edited August 13, 2013 by Penguin_ie

[OnMyWayID 1,489]

I do understand some of the parents comments/fears (though I disagree with them) it was the comments from the "ethicists" that threw me:

But ethicists fear that genetic manipulation could spell the end of the disorder – and of people who have it.

“We now see very few persons with the symptoms of polio or the scars of smallpox,” said Art Caplan, head of medical ethics at New York University Langone Medical Center. “The same fate, despite the protests of some, awaits Down syndrome and other genetic diseases if engineering genes creates cures.”

That to me is right out of the onion... He actually says it like it is a bad thing.

[Darnell 8,478]

It sounds like PGD (pre-implantastion genetic diagnosis) would be needed for this. If you do IVF anyways, why not simply select healthy embryos to implant?

I have friends who, after having a severely autistic child, did IVF and selected only girl embryos to implant as the chances are lower girls have autism. I've no problem with that.

I think it's a great path. I also think overcoming the Religionists who oppose this path might be a monumental task.