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.
It is the same thing, and it is pathetic and disgusting - the term “disability community” says it all.
“Its interesting that people without Downs Syndrome are concerned about “preserving the culture””
There is no compassion in celebrating something which limits all the possible life experiences HOWEVER, you will find all these false compassionate people in the support community for the “culture” are scared to death of losing their jobs and power. Despicable people, everyone of them.
Don’t cure these people because we will lose our jobs.
Cops live off of crime
Doctors live off of sickness
Clergy live off of sin
Insurance lives off of disaster
Farmers live on hunger
Politicians live off all of the above
How many billions of souls in this world are not able to improve their lot in life because someone else has a vested and profitable interest in their continued misery?
Yup. That's pretty much how I remember it. But I don't recall it as a book......as I remember it was in a collection (19XX's Best Science Fiction Stories or some such similar venue) But I seriously doubt that it was dying that got to Charlie. Even in his brilliant mode, he had to know that he (and we all) are going to die. It was the transition back to stupidity that was the horror.
My aunt, born in the 1940s, lost her hearing when she was young. She learned to lip read and become a fully functional member of society despite the hearing loss. Ditto for her husband. They both worked hard and put three daughters through Ivy League colleges (big mistake, but that's another story).
Sadly, for the most part, they don't even teach lip reading any more. Signing is quicker to teach and quicker to learn. Trouble is, it severely limits the number of people with whom they can interact and available opportunities as a result.
Sadder still is the growing number who are perfectly OK with it because said disability means another government check.
Down’s is somewhat of a special case, as those with Downs tend to be exceptionally loving and cheerful. Ergo, treatment and cure is a tougher call..... Nevertheless, the decision is still a no brainer: if the treatment and cure works, use it.
I hope it’s just the article making people look like idiots. In no way would this therapy somehow restore their existing children to non-Downs Syndrome status.
But of course research to “cure” it in future generations should be pursued and celebrated if it is achieved.
Would these people have been against Salk because his miracle vaccine would affect the “disabled culture” enjoying their existence in Iron Lungs and on crutches due to polio?
These people are cray-cray.
Profoundly so. I have a 20 year old step son with autism. We would do anything, anything for a cure. These irresponsible, self centered, selfish people fill me with sorrow and anger.
I guess is makes them feel "special" to care for a disabled kid to the point of Munchhausen by proxy. Either that or they stand to loose benefits if the kid recovers and can enjoy a normal life.
"Super freak" was entirely out of the question.
I don't know. I think a lot of them live off of both people's need for community and their need to get a shot of "feel good" once a week.
. . . opposed to using a cure because it would destroy the cancer community.
I'm having a hard time picturing you in a context where that could happen (you generally post about being engaged in activities in the Church, among pro-life or other conservative people, etc).
I’m constantly amazed by the frightening and downright evil reactions that rise to the surface when a new miracle cure is discovered. It’s like some people actually WANT heritable and communicable diseases to ravage human beings and leave behind torn and ravaged persons as some sort of macabre signpost pointing towards human frailty and misery.
There was a similar outpouring of grief when the rubella vaccine “threatened” to “destroy” deaf culture by actually preventing one of the major sources of acquired deafness.
I for one welcome revolutionary new treatments that prevent or treat crippling disorders.
And 3-4% of those are false positives. Not that it matters, the abortion death rate is still 100%.
Some people get fooled by their own propaganda. They’ve spent so much time telling the rest of the world that there is nothing wrong with people who have some condition or the other, that if a cure is found, they don’t want it. For example, some deaf people don’t like other deaf people who regain their hearing with implants. They think those who get “cured” are betraying the “deaf culture”.
Years ago I was astonished that cures for deafness were being opposed. I guess people object to the word “cure” as it implies that there is something wrong with people and that is a no-no. These days you are supposed to be proud of your afflictions/illnesses, perversions, and defects. I am bald, find no pride in it and if a real cure was available would get it. IMO, If people have a condition and want to keep or have it cured that’s their choice.
The book was titled: Flowers for Algernon and it might be best described as a novella. Flowers was targeted at the young adult market, although I do not think that a genre by that name existed at the time. As a pre-adolescent reader in 1968 or so I found it quite poignant. Anyway, as I recall Flowers touched on the seminal moral dilemma fleshed out in the posted article. For the central character Charlie, the medical cure for his mental handicap brought on as many difficulties as it did benefits. When the effects of the treatment ultimately wore off and he returned to his original condition there was a sense of great loss, almost tragedy, but the reader was left with the sense that Charlie was happier with the mind of an innocent child, gaining comfort from his relationship with a pet mouse (I recall it as a mouse anyway, named Algernon) than in his exulted state as a troubled genius.
As a libertarian, I believe that every individual has the right to pursue the full flowering of his God given talents. It is a moral wrong to deny another sovereign being the opportunity to express themselves to the fullest, and the fact that others may learn important lessons of charity from them were they to remain in their artificially limited and helpless condition is of no moral significance whatsoever.
Having said this, however, as Flowers demonstrates, gaining knowledge is not an unalloyed good. Just ask Adam and Eve. It may well be true that some individuals suffering from Down's will be less happy when cured than they were suffering the chromosonal abnormality. Caregivers may not like some of the changes that occur to their personalities. But no one has the right to make this decision for them if they are capable of doing so themselves. And, if it is concluded that the individual does not have the capacity to make an informed decision about the procedure, society should presume that he would want it if he were able to make it unless it may be demonstrated that the procedure would cause bodily harm.
I'm 66, and losing my hearing (pretty much totally deaf in one ear, and losing my ability to comprehend speech in the other....despite amplification w. hearing aids). Since people who get cochlear implants DO NOT actually "hear", but learn (via therapy) to "brain interpret" the implant signal as speech, I wondered if such an approach would help. Turns out that it will, and there is software that will allow one to "train oneself" to interpret the "new" speech patterns that arise from loss of certain frequency ranges.
Your comment led me to check, and there is indeed software available to teach lip reading, as well.
I remember when the deaf actress Marlee Matlin, who always used sign language and an interpreter, spoke a few words when accepting an award. The deaf community was FURIOUS with her! There was also a deaf Miss America who spoke very well, and she was hated and rejected by much of the deaf community. I guess you can only use sign language in order to be accepted by them. I’ve heard it said that you have to be born deaf, to deaf parents, and attend a deaf school where only sign language is taught, in order to be REALLY accepted.
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