Tagged: Down syndrome
Last month, University of Massachusetts scientists working with laboratory cell cultures said they had succeeded in suppressing the extra chromosome associated with Down syndrome, a technique they predicted could lead to treatments targeted at the symptoms of the condition.
We’ve got a genetically similar community, visible minority who are being targeted and terminated globally. People think, “Well, this is the way it is and these people just shouldn’t be.”
A friend who knows I have identical twin grandchildren with Down Syndrome sought my reaction to Forrestall’s complaint. I replied:
I am not quite in the camp of those who reject any attempt to treat Down Syndrome, but I certainly understand why people with Down Syndrome and their parents (and grandparents) bristle at the assumption they need to be “fixed.”
I can only view this through my feelings about Josh and Jacob. They get excellent medical care. They have had tubes in their ears to deal with chronic infections. Josh has had heart surgery. These conditions and others result at least in part from their chromosomal distinctiveness. No one thought twice about whether they should be treated. Of course they should.
But what about the constellation of qualities that include, but are not limited to, their intellectual disabilities? These qualities are a huge part of who they are. Without them, they would be totally different. There will never be a magic bullet that increases their IQs but leaves their humour, affectionateness, willfulness, stubbornness, loyalty, laziness, warmth, and joyfulness untouched.
When I see Josh and Jacob struggle to read the simplest words, or to make their garbled speech understood, sure, I wish life were easier for them. But I don’t long for them to be different, or more like other children. I adore them as they are.
And by the way, there is already a genocide of children with Down in the form of selective abortions. We would not countenance this for sex selection or red hair or gayness, but we take it for granted with Down Syndrome.
Today, Mike Finnerty, summer host of CBC Radio’s The Current, carried out a series of interviews on this subject—with one of the Massachusetts researchers, with Renee Forrestall, and with Christie Hoos, a parent of a Down syndrome child whose views differ from Forrestall’s. By themselves, these interviews would have made a thought-provoking segment. What really set the piece apart was Finnerty’s final interview with Halifax actor and freelance photographer Will Brewer, who has Down syndrome, a conversation conducted without a trace of condescension on Finnerty’s part.
You can listen to the program here (after a CBC promo):
Here is a transcript of Will Brewer’s comments:
Mike Finnerty: Will Brewer was born with Down syndrome. He’s a photographer and an actor. Will, thanks for coming in and welcome.
Will Brewer: Thank you.
MF: What do you make of this scientific breakthrough we’ve been talking about?
WB: I was surprised. It would be hard for me to think about that because I am who I am, and I love who I am.
MF: Can you tell us about what sets you apart in your on mind. What do you think it is about you and the fact that you are someone with down syndrome that makes you different to others, special from others?
WB: Well, I am so special because my mom says that I am magic. But I would say that everyone with Down Sydnrome is magic because I see it in their eyes when I take their photo. I can tell that they are happy of who they are and how they came out, and who have loving parents who are just superb at what they do.
MF: Is there anything about your life that you would change if you could?
WB: No. I just. I am happy where I am because now I have found a place where I can create art and have friends and have great relationships with people who I care about, and people who have — beautiful; magical children with Down Syndrome.
MF: If you were to think about your life — you know, your 24 hours a day, seven days a week — what percentage of your life would you say is happy or joyous and what percentage is unhappy?
WB: Sometimes I do have issues. Sometimes I just feel like crying sometimes, for no particular reason, because I think that’s part of who I am, because I do have sensitive thoughts as well, but in everyday life, I enjoy it.
MF: Specifically, do you have issues — health iussues and other kinds of things that are, you know, not good in your life that you would, if you could, using these new therapies that might come down the road, that you would fix?
WB: Well, 28 years ago, when I was born, I couldn’t breathe — or like, I couldn’t cry when I was born. So a couple months later, I had heart surgery. And I do have a thyroid condition as well.
MF: What do you think about the idea that sometime in the future you could, through medical intervention, correct or suppress that extra chromosome and that would mean that they’re weren’t people who had down syndrome? What would you think of that?
WB: I would think it would be very interesting to actually see that because, I do have friends who are not Down syndrome as well, and I don’t kow if they would want to change themselves. But I would never change. That’s who I am.
MF: What would you like people out there who are listening to know about your life as someone with down syndrome?
WB: Well, first of all, if they want to have a picture taken, they should come to me (laughs)
MF: Because you are a photographer?
WB: Of course.
MF: Are you a good photographer?
WB: Oh I really am.
MF: And what else would you like people to know?
WB: That we are who we are and we love who we are. We want a place in this earth, in this generation, in this life of everyday, and we are proud of who we are.
MF: Will, thanks for talking to us.
WB: Thank you.
Almost four years ago, Contrarian reported that researchers at Stanford University had used a drug therapy to improve the learning skills of mice with a form of Down syndrome. Like Renee Forrestall, Jenn Power, community leader at L’Arche Cape Breton and mother of my twin grandsons with Down, found the research distressing. She said people with Down’s don’t need a cure; they need “a society that values what they have to offer.”
The fascinating discussion that followed produced many thoughtful contributions on all sides of the issue. (There are too many posts to link individually, but if you click here and scroll back to the earliest posts you will find them all.) The Contrarian discussions eventually spread to the New York Times parenting blog Motherlode, where hundreds of people weighed in.
Sydney’s Weird Beard Troupe, a black light theatrical group featuring puppeteers with Down syndrome, holds its debut performance at Cape Breton University’s Boardmore Theatre Friday. This being 2012, they’ve released a great trailer (best viewed full screen):
The inaugural production features a modernized, hippified re-make of the the Tree Little Pigs fable. All the live shows sold out early, but a CD and storybook is available.
[Disclosure: Contrarian had a small role in the production’s scriptwriting.]
When people learn that my son Silas and his wife Jenn Power adopted a pair of identical twins with Down Syndrome, they often say one of two things: “I could never do that,” or “You must be saints.”
I love Silas and Jenn beyond measure, and admire them hugely, but I can attest they are not saints. The explanation for their decision to adopt Josh and Jacob lies elsewhere.
As members of the L’Arche Community in Iron Mines, Orangedale, and Mabou, Cape Breton, Silas and Jenn have lots of experience working and living with developmentally disabled people. It’s what they like doing, and they’re good at it. Like most people who spend time at l’Arche, they describe the experience as one of blessings received more than bestowed.
This week comes scientific evidence they are not alone. Researchers at Boston’s Children’s Hospital and other centers carried out one of the largest surveys every conducted of people with Down Syndrome and their families. Respondents with Down reported overwhelming happiness with their lives, and family members said having a child or sibling with Down had been a positive experience.
The researchers published three studies on their findings in the October issue of American Journal of Medical Genetics. Their study sought to answer the questions most commonly asked by prospective parents of children with Down syndrome:
- What is life actually like for parents who have sons and daughters with DS?
- How many of them love their son or daughter with DS?
- How many of them regret having their child?
The researchers heard from heard from 2,044 parents of children with Down syndrome:
99% reported that they love their son or daughter; 97% were proud of them; 79% felt their outlook on life was more positive because of them; 5% felt embarrassed by them; and 4% regretted having them. The parents report that 95% of their sons or daughters without DS have good relationships with their siblings with DS. The overwhelming majority of parents surveyed report that they are happy with their decision to have their child with DS and indicate that their sons and daughters are great sources of love and pride.
They surveyed 822 siblings of people with Down Syndrome::
More than 96% of brothers/sisters that responded to the survey indicated that they had affection toward their sibling with DS; and 94% of older siblings expressed feelings of pride. Less than 10% felt embarrassed, and less than 5% expressed a desire to trade their sibling in for another brother or sister without DS. Among older siblings, 88% felt that they were better people because of their siblings with DS, and more than 90% plan to remain involved in their sibling’s lives as they become adults. The vast majority of brothers and sisters describe their relationship with their sibling with DS as positive and enhancing.
Perhaps most importantly, they heard from 268 people with Down Syndrome, aged 12 or over:
[N]early 99% of people with DS indicated that they were happy with their lives, 97% liked who they are, and 96% liked how they look. Nearly 99% people with DS expressed love for their families, and 97% liked their brothers and sisters. While 86% of people with DS felt they could make friends easily, those with difficulties mostly had isolating living situations. A small percentage expressed sadness about their life.
Longtime readers of Contrarian have encountered Josh and Jacob before, celebrating Canada Day with their rousing rendition of O Canaduck!, and on a fleeting moment when they were definitely not happy with their lives.
The experience of actual parents with actual Down syndrome is the best answer for those who say, “I could never do that.” They might not choose it, but when responsibility for someone with Down syndrome falls upon them, most people rise briskly to the occasion, and look back at the experience as positive and rewarding.
This winter, Contrarian hosted an interesting discussion about whether Down syndrome needs a cure. Now reader Denis Falvy offers an intriguing footnote. It seems that people with Down syndrome rarely get tumors.
Recent research at Children’s Hospital in Boston, reported in the journal Nature, suggests that a gene (gene 231) on the extra chromosome (chromosome 21) carried by people with DS may inhibit cancer by blocking the activity of a protein tumors need to grow. Money quote:
The gene suppresses the growth of new blood vessels that cancers need by blocking the activity of the protein calcineurin, suggesting a new target for future cancer drugs. The investigators… add that chromosome 21 might possess four or five anti-angiogenesis genes.
Last Thursday, the Cape Breton Island Film Series showed Pedro Almodóvar’s Broken Embraces, which Roger Ebert describes as, “a voluptuary of a film, drunk on primary colors, caressing Penelope Cruz, using the devices of a Hitchcock to distract us with surfaces while the sinister uncoils beneath.” It’s a lush, layered melodrama, with lots of surprises hidden among its folds, including this utterly unexpected footnote to Contrarian’s conversation about whether medical science should try to “cure” Down syndrome.
The central character, Harry Caine (Lluís Homar), is a movie director who turns to script-writing after a brutal car accident leaves him blind. Early in the movie, Harry’s devoted agent, Judit García (Blanca Portillo), urges him to get started on a new screenplay. Mindful of Harry’s fragile finances, she suggests “something with fantasy or terror for kiddies is what it sells best.”
Harry: I thought of doing a story inspired by Arthur Miller’s son.
Judit: The writer who married Marilyn?
Harry: Yes. After Marilyn, he married the photojournalist Inge Morat, and they had a son. The kid was born with Down Syndrome, and Arthur Miller hid it. He doesn’t even mention him in his mémoires, and never wanted to see him. Despite his wife’s pleading, he never wanted to see him.
Judit: How terrible!
Harry: But one day they met by chance. Arthur Miller was speaking at a conference in defense of a mentally handicapped person who had been sentenced to death after a forced confession. Seated in the audience was his son with Down Syndrome. After the speech, the son went to the podium and hugged his father effusively. Arthur Miller had no idea how to shake off this unknown man until the man released him and said:
“I’m your son, Daniel. I’m so proud of you Papa.”
Although the scene prefigures the importance of father-son relationships in Broken Embraces, the movie never mentions the Millers again.
Arthur Miller, who died in 2005, is not only one of America’s greatest playwrights, but also the unofficial tribune of the Left—a celebrated humanitarian who courageously stood up to the anti-Communist fear-mongering of the 1950s. Growing up in a liberal New England family of that era, Contrarian was raised on The Crucible, Miller’s play about the Salem witch hunt, a thinly disguised allegory about McCarthyism.
The exchange between Judit and Harry left me stunned, and wondering how much of it is true?
Virtually all of it, it seems, up to and including Daniel’s surprise embrace of his father at a September, 1995, conference on false confessions in Hartford, Connecticut, where Miller spoke in support of Richard Lapointe, a mentally challenged man who, his supporters contend, was falsely convicted of murder and sentenced to die. Vanity Fair broke the story in this 2007 exposé.
I’m still gobsmacked. Right-wing bloggers have had a great sport proclaiming that they always knew Miller was a no-good hypocrite. Their left-wing counterparts have been at pains to point out that, in 1966, when Danny was born, institutionalizing infants with Down Syndrome was still the norm, and the course advised by most doctors (though increasingly ignored by mothers like Morat, who wanted to raise Danny at home, but bowed to the great writer’s wishes).
Now in his 40s, Danny is said to be doing well, holding down a job, and living quite independently. Apparently at the urging of his son-in-law, the actor Daniel Day-Lewis, Arthur Miller saw his son more often in the last decade of his life. Six weeks before he died, the playwright added a codicil to his will granting all four of his children an equal share of his estate.
While we can take some comfort in the fact that Down’s syndrome infants are no longer bundled off to institutions, our pleasure should be tempered by the knowledge that Richard Lapointe, the handicapped convict championed by Miller, is still seeking justice. His re-trial resumes in May.
Perhaps most important, Miller’s ignorance and shame should not obscure the equally dramatic story of Danny’s capacity for love and forgiveness. Let’s hope no one finds a cure for that.
Silas Donham responds to posts on the New York Times Motherlode blog criticizing those who would reject potential chemical treatments intended to improve intellectual function of infants with Down syndrome. This difficult topic provoked a debate here on Contrarian that was remarkably thoughtful and respectful. But when the Times picked up on our discussion, many commenters were incredulous that any parent would hesitate accept such treatments for their children. A few had nasty things to say. Silas responds:
First, the disclosure: I am Jenn Power’s husband, father to Jacob and Josh, and son to contrarian.ca, the blogger who got all this started. Like Jenn, I have spent my adult life living and working intimately with people who have intellectual disabilities.
Many of the contributors to this discussion seem to be imagining a magic pill without risk or side-effect that would remove the intellectual impairment associated with Down Syndrome. Medical treatments like that do not exist. Of course Jenn and I want our children to have every advantage, and the fullness of potential, which is available to them. Our boys have glasses, they have tubes in their ears, they attend school as well as physio-, occupational, and speech therapy, a clinic that focuses on eating difficulties, an adaptive swim program, a youth group, church, friends’ birthday parties, etc. One of my boys had surgery to repair a hole in his heart. I home-schooled them for a year to get ready for regular school. But we would not allow a medical researcher, however sincere and well-meaning, to take a potential chemical blender to their brains in infancy. Thank you, no. In that sense, our boys are just fine the way they are.
Many of you have posed questions from the imagined viewpoint of a person with a disability: if you had Down Syndrome, wouldn’t you want to be “cured”? Can you imagine a person with no legs NOT wanting a treatment that would give him legs? It is a sad observation that the voices of actual people with disabilities are usually absent from discussions of this type (thanks to Ingrid in San Francisco for bucking that trend). In fact, their answers to these questions are often not what you would expect. I first contemplated that idea when I heard a CBC radio piece produced by Dave Hingsburger, a counsellor and disability rights activist in Toronto. Over the course of a two-hour program, Hingsburger talked to many members of the disability community, including people with Down Syndrome, as well as a man who has no legs. At some point in the course of other discussions he asked each person he talked to whether, if presented with a pill that would get rid of their disability, they would take it. Without exception, they all said no.
At the time, this was an earth-shattering notion for me. But the fact is that I know many people who have intellectual disabilities. No-one I know sees themselves as diseased, suffering, or in need of a cure. So who is really imposing their viewpoint here?
Jenn framed her response to this medical research in terms of the benefit she has received from her relationships with people with disabilities, and the benefit society as a whole stands to gain from them. Unfortunately some of you have construed that to mean that people with disabilities should be kept in a limited, suffering state so the rest of us might benefit. Several of you even made the hurtful comparison between our boys and “therapy animals.”
Perhaps it is a symptom of the way people with disabilities are devalued in our society that we so often feel the need to justify them by naming the benefit other people receive from them. No other group in society needs to do this. However, that is not the basis by which we make decisions about our boys’ lives. Everything we do (including the hypothetical rejection of experimental brain treatment) for them is with their best interests at heart. And to respond to other posters, we have not forgotten what might happen to our boys when we are no longer around. That is why our whole lives are devoted to people with intellectual disabilities, from our parenting to our professional lives with L’Arche to our involvement in the local school to our involvement in discussions such as this one. A society that recognizes the gifts of people with disabilities is one that goes beyond inclusion and tolerance to real relationship.
People are complicated organisms. Tinkering with one aspect affects a host of others. As a society we tend to overvalue independence and intellectual competence. These things do not bear a linear relationship with happiness or quality of life. There are a lot of independent people who lead very lonely lives. In my experience of people with intellectual disabilities, the ones who are more capable and independent are often the ones who have the hardest time finding a place of belonging, and who therefore lead lives of greater suffering. I don’t mean to say that capability is a bad thing; I just mean that it is complicated, and that makes the ramifications of this treatment hard to predict.
We don’t know whether this potential brain treatment will lead to greater quality of life for people with Down Syndrome. We don’t know what its risks and side-effects might be. We do know that people with disabilities are undervalued, insufficiently supported, and too seldom consulted or in control of the decisions that affect their lives. Why don’t we put more work into supporting the weaker members of society, combating bullying and abuse, and discovering and learning from the experience of people who have disabilities, and get less excited about expensive, unproven treatments that may do more harm than good?
For those who have followed the debate over potential treatments for Down syndrome in the New York Times parenting blog Motherlode to its source here on Contrarian, I have assembled a series of links you might want to follow.
Our discussion of this issue began with this post back in November. Jenn Power elaborated on her concerns here, and Dr. Ahmad Salehi, the Stanford researcher whose work touched off the discussion, responded thoughtfully here. Jenn’s husband Silas Barss Donham, my son, weighed in here.
Jenn is the community leader of L’Arche Cape Breton in Iron Mines, Nova Scotia, a community for “people with developmental disabilities and those who choose to share life with them.” It’s one of about 130 L’Arche communities around the world founded by the acclaimed humanitarian and philosopher Jean Vanier. A few links:
- L’Arche Cape Breton website.
- L’Arche Wikipedia entry.
- Jean Vanier’s Wikipedia entry.
- Jenn’s blog about disabilities.
- Jenn’s hilarious vacation blog.
- An amazing video Jenn produced in which L’Arche “core members” talk about their hopes and fears.
- A video of my twin grandsons, Josh and Jacob, singing “If you’re handsome and you know it….”
- Josh and Jacob singing the Robert Munsch song, “I love you forever.“
- Josh and Jacob singing Canada’s national anthem, sort of.
You may have gathered that I’m very proud of my daughter-in-law. It was distressing to see so many Motherlode commenters leap to the conclusion that, because Jenn recoiled at the prospect of chemical treatment for her sons’ intellectual impairment, she must be selfish or patronizing. In fact, Jenn is one of the least selfish, most compassionate and giving people I know. My own post on Motherlode elaborates on her admirable work.
Motherlode, a New York Times blog on parenting, has picked up on Contrarian’s discussion about potential treatments for the intellectual impairment associated with Down syndrome — and touched off quite a debate of it its own.
Our own discussion began with L’Arche Cape Breton Community Leader Jenn Power’s disquiet at the assumption that Down syndrome constitutes a disease in need of curing. Jenn, who is both the adopted mother of identical twins with Down Syndrome and — disclosure — my daughter-in-law, spoke eloquently of Down traits that don’t need fixing:
[I]ncredible smiles, overflowing affection, stubbornness, great sense of humour, cute toes, love for orange pop and Rita MacNeil, endless capacity to forgive… the list goes on and on. I am not sure I can articulate why, but I find this article both upsetting (lump in my throat and eyes welled with tears right now) and disturbing. Why does everything need a “cure?”
The Times quoted at length from Jenn’s subsequent, more detailed Contrarian post, and from Stanford University researcher Dr. Ahmad Salehi’s thoughtful response here as well. Motherlode’s thread on the subject has now attracted more than 100 comments. Several are thoughtful and constructive, but a shocking number come from people quick to condemn Jenn as “selfish” or “patronizing” for not jumping at the chance to chemically enhance her sons’ cognitive skills.
Many Contrarian readers are familiar enough with Jenn to know her life is the antithesis of selfishness. As I wrote in my own comment on Motherlode:
As the leader of this extraordinary [L’Arche] community, Jenn manages an incredible range of human emotions, trials, joys, and tribulations, along with the myriad practical details required to manage any large group of diverse people. She does this with enormous tact, kindness, generosity, wisdom, humor, firmness, practicality, and love. And immense hard work.
From this I conclude that, despite decades of progress integrating developmentally challenged citizens into society, we have a long way to go in overcoming the kneejerk tendency to view people like my grandsons as less good and less valuable than the rest of us. That’s our loss as much as it is theirs.
In a separate post aimed at New York Times readers, I will include links to all our Down syndrome posts, and to several short videos featuring the extraordinary folks at L’Arche Cape Breton, including my esteemed two grandsons, Josh and Jacob.
I am still stuck on the Down Syndrome thread. As Canadians with disabilities will tell you, Canada has a medical model of disability. The approach is, “let’s fix what’s wrong with you,” rather than, “let’s fix what’s wrong with us.” Hence the inaccessible buses, devilish sidewalks, and antediluvian building codes. The result is a hidden and large group of people who are disenfranchised, undervalued, ignored, and sometimes abused. See the shocking account in Monday’s Chronicle-Herald.
One of my big defeats was an unsuccessful complaint against poor building codes I made to the Nova Scotia Human Rights Commission in 2006. I thought it was pretty compelling, but the HRC are evidently a bunch of cowards who declined to get involved in improving lives.
I’m not disappointed anymore—just angry. Can you explain the difference between a “No Queers” sign and a set of steps confronting a wheelchair user? Chances are your local MLA maintains an inaccessible constituency office. A government that can’t include it’s most vulnerable citizens loses its moral authority.
This kind of systematic discrimination creates a climate where disabled people are second-class. Is it a surprise that they’re abused by those who should be protecting them? For people in wheelchairs and people with Down Syndrome Canada is a disappointing, dangerous place.
In late November, Contrarian reported that researchers at Stanford University had used a drug therapy to improve the learning skills of mice with a form of Down syndrome. Jenn Power, community leader at L’Arche Cape Breton and mother of twin boys with Down’s, found the research distressing. She said people with Down’s don’t need a cure; they need “a society that values what they have to offer.” This produced a fascinating discussion with many thoughtful contributions on all sides of the issue.
At Contrarian‘s request, Dr. Ahmad Salehi, M.D., Ph.D., the lead researcher on the Stanford University study, has responded to our discussion in an equally thoughtful spirit.
First of all, I would like to thank you for a quite accurate description of our recent study on the mouse models of Down syndrome. In this study, we found that some aspects of cognition could be restored in mouse models of Down syndrome using a pro-drug.
For the last 10 years, the primary goal of our Down syndrome research at Stanford University has been to understand the molecular mechanisms of cognitive dysfunctions in people with Down syndrome. Our recent study has brought us a little closer to understanding cognition in a mouse model of Down syndrome.
In response to Jenn (see posts here and here), I would like to point out that restoring a rather limited aspect of learning and memory in a mouse model of Down syndrome is far from being a cure. It is a very small step toward understanding how the brain works and how we can potentially restore dysfunction found in the brain of mouse models of Down syndrome. The goal of our research is not to change the personality of a person with Down syndrome, but rather to help them lead more independent lives.
There are many aspects of people with Down syndrome that we should consider a blessing. Their positive interactions with others, their cheerfulness and affection, and their nonjudgmental attitude are just a few examples. The question whether all people with Down syndrome need some kind of treatment is entirely personal and completely depends on the individual situation. Nevertheless, not every child with Down syndrome is as lucky as Jenn’s children. There are many places in the world that may not look at Down syndrome the way that Jenn does. For these children, finding a way to even partially restore cognition or preventing further deterioration in their learning and memory would be extremely important and helpful in their very competitive societies.
One other concern that I heard recently is about the fact that Down syndrome is a chromosomal disorder and that there is no way to remove the extra chromosome from every cell. Although this is indeed the case, we may not need to remove the entire extra chromosome 21 to counter the cognitive dysfunction associated with Down syndrome. Our previous work has shown that indeed there are a few genes on chromosome 21 whose overexpression could be linked to dysfunction of several brain areas in mouse models of Down syndrome. This means that finding a way to reduce the expression of these genes in the future could be a fundamental treatment for certain aspects of Down syndrome.
Thanks to advances in medical treatment and inclusion in society, people with Down syndrome live longer than ever before. Although this is good, it brings its own challenges. People with Down syndrome on average age faster and are at a much higher risk of developing dementia and early-onset Alzheimer’s disease. After the age of 40 years, the brains of people with Down syndrome look very similar to those of people with Alzheimer’s disease. The task for us is to find out how to prevent adults with Down syndrome from converting to Alzheimer’s disease later in their lives. There are at least 350,000 people with Down syndrome just in the US. Preventing even a fraction of this rather large group from developing Alzheimer’s disease is an important health issue.
I do believe that we should avoid giving false hope to people with Down syndrome and their families. But the only thing that keeps us going as parents and as researchers is the hope that one day, our children will live free of problems that are within our reach to somehow resolve.
(Sietske N. Heyn. Ph.D., also contributed to this post.)