In the wake of news that UMass researchers had successfully "shut off" the chromosome that causes trisomy 21, or Down syndrome, parents react with concern, bewilderment and mixed levels of enthusiasm.

I have a 3-year-old son with Down syndrome (Ds), and the emotional journey from learning of his diagnosis prenatally to today has been discouragingly dour and reassuringly remarkable. The news that scientists can "shut off" the chromosome that causes Down syndrome is groundbreaking and has prompted many discussions about the ethics — and life-changing repercussions — of making genetic changes.

I know that some parents will welcome the news, wanting for their sons and daughters to have every potential in today's challenging world. Other parents might pause, or even be disturbed, by the notion that somehow, some way, their son or daughter inherently needs 'fixing.'

The discovery, published Wednesday, July 17, in the journal Nature, presents an emotionally stirring possibility to parents — although since trisomy 21 causes developmental and intellectual delays in the womb, it's not known whether this latest advance could change outcomes for children or adults with the genetic condition.

"I can understand completely how this landmark research might bring mixed emotions in the Down syndrome community," says Dr. Brian Skotko, co-director of the Down Syndrome Program at Massachusetts General Hospital. Skotko was not involved in the new study.

"The tantalizing question has now, for the first time, been legitimately raised: Can we — and should we — 'cure' Down syndrome? I know that some parents will welcome the news, wanting for their sons and daughters to have every potential in today's challenging world. Other parents might pause, or even be disturbed, by the notion that somehow, some way, their son or daughter inherently needs 'fixing.'"

Mixed emotions

Indeed, parents have reacted with mixed emotions. Personally, I simply don't know what I'd be willing to "change" about my son. His personality? Never. His looks? Not for a second (although no longer matching my locks to his beautiful blond ones would save lots of money).

But what about his speech delay? His difficulty walking? How could I say no? As a mother, don't I have a responsibility to do whatever I can to afford my child every opportunity?

Travis has a child with Down syndrome. "The big question: Would my child be the same if we turned off that third chromosome?" he asks. "How much would change, and would it be too much?

Is Down syndrome something my child has, or is it who they are? If it's the former, then getting rid of it would be considered a cure, and wouldn't we jump at the chance? If it is the latter, then the whole idea of a cure is offensive.

"It does stir up some foundational questions. Is Down syndrome something my child has, or is it who they are? If it's the former, then getting rid of it would be considered a cure, and wouldn't we jump at the chance? If it is the latter, then the whole idea of a cure is offensive. I'm not sure where I land."

Jenn has a son with Down syndrome. "I truly believe that [my son's] personality and manner of doing things would almost certainly be the same or very, very similar," she says. "And if there were a way for me to take away the struggles and what-ifs he faces, then I would."

Another dad, Paul, has a baby daughter with Ds. "[I'm h]aving a hard time with this one," he admits. "We are rookies in this Ds thing, but it's how our babe was born, not something that happened to her that I want a cure for."

Answers don't come easily

I am not saying I want him to change or [I want] to take the Ds away, but I do hate to see the struggle that he has — he tries so hard to overcome many things that genetically he is just not able to.

"[My son] is 8 and I feel his soul is who he is as a person: He is a vibrant little boy with so much love for life, and I feel he will always be that no matter what," shares Ashley. "Although is it wrong to have some hope of wondering what it might be like if he could talk to me and tell me how he feels? To be able to do all the things he loves without [the] restrictions of the disability? I am not saying I want him to change or [I want] to take the Ds away, but I do hate to see the struggle that he has — he tries so hard to overcome many things that genetically he is just not able to."

Playing God?

In various discussions, the debate turned to the issue of "playing God."

They can't guarantee that it wouldn't change him, and I wouldn't want to take that risk.

Craig's son has Down syndrome. "I would never want to change what God created," Craig says. "[Our son] is perfect just the way he is! I think if you were to turn off the third chromosome, then you are changing who he is. They can't guarantee that it wouldn't change him, and I wouldn't want to take that risk. We love [our son] for who he is, and he has shown us so much!"

Ashley adds, "Of course, we all love our children for who they are and don't want to change what God created. I am so thankful there is research going on, as I feel Ds does not get near as much as other conditions... Ds has come a long way, but there is still so much to learn."

Another parent asks, "What is the difference though with this versus surgeries that are out now to correct genetic defects, medications, etc.? Is that playing God, too?"

No decisions today

Ultimately, these moral and ethical dilemmas are far off on the horizon of Down syndrome research progress.

"I would remind everyone that, while the research community took a giant first step today, we are still quite a distance from moving the findings from petri dishes to humans," advises Dr. Skotko. "So, there will be lots of time for reflection, discussion and healthy debate.

"But, at the end of the day, let's be sure to involve the people who matter most — that is, people with Down syndrome. What do they think about the research? Would they want their Down syndrome 'cured'?'"

A study conducted by Skotko and colleagues found that 99 percent of people with Down syndrome are happy with their lives.

In fact, a study conducted by Skotko and colleagues found that 99 percent of people with Down syndrome are happy with their lives. But not everyone is happy.

David Pearce is the brother of Kevin Pearce, a snowboarder whose accident caused brain damage. In an HBO documentary, Crash Reel, David speaks frankly about his frustrations with having Down syndrome and his wish to change it.

And isn't his opinion — and those of other individuals with Down syndrome — the only one that truly matters?

Research community reacts

"This is a very elegant new research study and a spectacular accomplishment," says Dr. Michael Harpold, chief scientific officer for the Down Syndrome Research and Treatment Foundation. This will provide additional new research tools to further understand Down syndrome and enhance progress in cognition research to benefit individuals with Down syndrome."

His colleague and DSRTF executive director Carolyn Cronin adds: "The research provided by Lawrence and her colleagues has brought international attention to the potential to identify new therapeutics. This progress gives us even more information than what we had before. We remain focused on raising funds to support Ds cognition research to improve memory, learning and speech for those with Down syndrome."

Read more about Down syndrome

The truth about my child with Down syndrome
3 Best lessons from my 3-year-old with Down syndrome
Imagining a future for my son with Down syndrome

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