Jawanda Mast helps her daughter Rachel, 14, write thank you notes Rachel has Downs Syndrome.
Posted on 08/12/2013 7:26:35 AM PDT by Mrs. Don-o
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, she said.
It likely wouldn't be possible to "cure" Down syndrome, because the condition occurs at conception, she said.
“Even looking forward really far, I don’t see how we could fundamentally change a person who has trisomy 21 to silence all the chromosomes in their body,” said Lawrence.
Instead, it might be possible to target specific conditions: Perhaps there will be a way to treat congenital heart disease early in children with Down syndrome or to stave off Alzheimer's disease in adults, she added.
No question, the research is an advance in the understanding of Down syndrome, which occurs when people are born with three copies of chromosome 21, instead of the normal two copies.
(Humans are typically born with 23 pairs of chromosomes, including one pair of sex chromosomes, for a total of 46 in each cell. People with Down syndrome have 47 chromosomes in each cell.)
The researchers discovered that a gene called XIST -- which normally turns off one of the two copies of the X chromosome in female mammals, including humans -- could be inserted into the extra copy of chromosome 21 in lab cultures.
Using skin cells from a person with Down syndrome, they created pluripotent stem cells, which can form a range of different body cell types. When they inserted the XIST gene, they found that it effectively silenced the extra chromosome.
When they compared brain cells with and without the XIST gene, they found that those in which the extra chromosome had been suppressed grew more quickly and were better able to form progenitors of other brain cells, Lawrence said.
“That’s kind of useful right away,” she told NBC News. “There hasn’t been a good way to understand what’s wrong with these cells.”
But her work was never targeted to eliminate the condition, Lawrence added.
“I guess that we always thought that we were developing therapies to help children with Down syndrome. We never thought for a moment we would aid in the eradication of it,” Lawrence said.
That’s a relief to geneticists like Skotko. He worries about the demographics of the disorder, which has been altered from an estimate of 400,000 people with Down syndrome in the U.S. to 250,000, according to new research by Dr. Edward R.B. McCabe, chief medical officer at the March of Dimes.
The number of babies born with Down syndrome has been rising in the past decade, McCabe found. But research suggests that about 74 percent of women who receive a prenatal diagnosis of Down syndrome end their pregnancies. And -- in a country where women are delaying childbirth -- there are not nearly as many Down syndrome births as there could have been.
“What if fewer babies with Down syndrome are being born and Down syndrome starts to inch closer to being a rare condition?” said Skotko.
The promise of new drug therapies and treatments may help, he says, giving hope to families expecting Down syndrome babies and to those with older children – and adults.
Still, Jawanda Mast says she’s certain the questions raised by the new research will be debated for years in public meetings and in private conversations.
“It’s an interesting thing because Rachel’s whole life, there’s been this discussion: ‘If you could take it away, would you?’” she said. “I think, ethically, we’re just taking the cap off the bottle.”
JoNel Aleccia is a senior health reporter with NBC News. Reach her on Twitter at @JoNel_Aleccia or send her an email.
If it was appropriate to kill the imperfect, we'd all be dead, wouldn't we?
Love thy neighbor as thyself. Your nearest neighbor is your unborn child.
Wonderful article. Sending it to my son and daughter in law who are the proud parents of TWO Down Syndrome children, (One their own, one adopted.)
Bless them.
I knew a gal with a Downs Syndrome child. I looked and saw the beauty that God endowed the child with and remarked what a beautiful child it was. She looked at me like I had grown horns and was nuts. So sad that she couldn’t see through the pain and inconvenience to understand what she really had. I never had to walk in her shoes, so I am probably not fully qualified to criticize, but it made my heart ache for her and her child. I worked the Biloxi Summer Olympics for a number of years and it was spiritually uplifting to be among these children.
??
Its interesting that people without Downs Syndrome are concerned about “preserving the culture”
If you had Downs Syndrome, would YOU want to remain retarded your entire life to preserve your sweetness and simplicity?
I am reminded of the movie “Charlie” where the character is “cured” of his mental retardation by a miracle drug and becomes a sparkling genius, falls in love with the researcher etc— then realizes the drug is losing effect and realizes he will regress and will again become retarded. It was kind of horrifying, actually.
Some people in deaf culture have the same attitude- better to stay deaf than undertake surgery or other measures to restore hearing or communicate by voice - deafness is a “culture” thing, not a handicap
However - retardation? Far different imho
It’s interesting that the researcher is emphasizing the limited utility of what she’s discovered so far, while less-knowledgeable people are going ballistic.
I don't know the answer. I get it that these children and others who are outside the norm teach us to be more human and compassionate, and many seem very content with their lives. I also get nervous when we play God with genetics.
It's a really deep philosophical crossroads we're at, with the ability to manipulate life.
Yeah, I remember "Charlie", but the book (actually short story) rather than the movie. I thought it went past "kind of" horrifying. Of course, people with Alzheimers (and some other forms of dementia) undergo this precise same transition, so it is not exactly unknown in our society.
And it STILL goes past "kind of horrifying".
Agree...
My biology teacher predicted we'd arrive here. That was 38 years ago. He was ahead of his time.. God rest his soul.
“Its interesting that people without Downs Syndrome are concerned about “preserving the culture””
I found that more than curious too - like Down Syndrome is a species in need of preserving.
I’d like to hear Sarah Palin’s take on this discovery.
“Flowers for Algernon” was the title of the book. Algernon was the rodent on which the drug was first tested, and against which Charlie was measured when he started getting the drug. Algernon died, and it was a consequence of the drug. Then Charlie realized he, too, would die.
and Rick Santorum’s
Like many, he had a bit of savant to him....he couldn't do any kind of arithmetic - yet he couldn't be beaten in card games.
My wife has significant experience working as a nurse taking care of people with Downs Syndrome, and has been on the board of a non-profit which takes care of those afflicted. There is basically an entire government supported industry that has grown up around the care for people with Downs Syndrome. It is not that surprising that some who may have to find a new way to make a living... might view this development in a negative light.
Our assumption here is that in general the relatives who are concerned about “preserving the culture” are either getting a whole lot of assistance including substantial government funds given to them to take of their relative or they are not the ones actually carrying for their relative.
We have known entire families who have basically been supported by the money that they get from the government to take care of their relative with Downs Syndrome. Some of these people might also be inclined to make up these same type of lame excuses to deny their relative proper treatment when and if it becomes available.
We personally think that it would be inhumane to even consider withholding this type of treatment should it become effective and available.
There are some in the deaf community that are opposed to cochlear implants that can in many cases restore near normal hearing. Their concern is also that the widespread use of this procedure would be the end of the sign language based “deaf culture”
I rank that similarly to nearsighted parents not wanting to buy their kids glasses so they can share in "blurry" culture.
Yes, I noticed that too. I guess it wouldn’t sell as good if a reasoned discussion of the turth was reported.
I also think that in the back of most ‘journalists’ minds is Sarah Palin, and the posssiblity that she may, again, be proven right. So they need to fan the flames to falming hot in order to stop this research before it becomes available for use.
This ideology, as I understand it, is very much nurtured in Gaulladet College, which has promoted the idea of deaf people being analogous to an ethnic minority, preserving and developing their own distinctive world.
The idea of "preserving the Down Syndome culture" is similar. And similarly wrong-headed. It comes from the "dictatorship of relativism" which deems it bigotry for anything to be termed "normal" or "abnormal," "natural" or "unnatural."
I was recently reprimanded when I called homosexuality abnormal. I was told I could say "sexual minority," but even "atypical" was thought to be too stigmatizing.
How can you do medicine --- which is supposed to cure, heal, repair, strengthen --- when you can't define what "healthy" is?
Certainly no well-intentioned and thoughtful person can having anything to gain from misstating what’s currently been achieved in this research, or from generating hysteria either for or against additional study.
I know people have a lot of emotional investment in the subject, but *calm down*. When a therapy that is potentially useful to humans is proposed, it will need to be tested; results can be observed, etc., etc.
Someday we may have a way to instantly restore a person to full health, no matter what has gone wrong - like in “Star Trek” - but we’re nowhere near that now. No “antidotes,” no magic spells ... just, maybe, incremental advances in prevention or alleviation for conditions, whether they’re genetic or acquired.
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