Downs but not out.

Down’s syndrome novel tugs at America’s heartstrings

Moving tale that highlights genetic condition becomes sleeper hit of the year

Paul Harris in New York
Sunday June 17, 2007
The Observer

Like many good stories, The Memory Keeper’s Daughter begins on a dark and snowy night. But, unlike most first novels from barely known authors, the book has gone on to be one of the biggest hits in recent American publishing. It has sold more than 3.5 million copies in America and is due for publication in at least 15 other countries. It has done all this despite – or perhaps because – it is about one of the most emotional and difficult situations any new parents might face: a child being born with Down’s syndrome.

According to the Observer

The book has been a huge hit among parents of Down’s children and those who work with them. They have praised its portrayal of a child leading a full life and bringing happiness to a parent.

This is all very positive but I wonder, if the writer had interviewed people with Downs, would they have praised it because it portrayed a child with Downs bringing happiness to a parent? I have always found that the joy of parenthood derives from bringing happiness to my children. Perhaps this is what the writer meant, that parents can rejoice in their children’s happiness.

Apparently many prospective parents of Downs children do not believe that their child will be happy.  Over 90 per cent of Downs fetuses that are identified by prenatal screening are aborted. The UK Downs Syndrome Association estimates that 10 in 10,000 live births are Downs. Earlier estimates, before amniocentesis became common, ranged from 15 to 24 in 10,000.

The relevance to autism

With Downs we know exactly where the genetic abnormality lies but have no idea why one of the parents produces a sperm or egg cell with an extra chromosome. We do not understand how this extra chromsome works to produce the features of Downs Syndrome and nearly 50 years after Professor LeJuene discovered the trisomy on chromosome 21 we are still a long way off being able to reverse or ameliorate its effects. All we can do is identify around a half of Downs pregnancies and offer an abortion.

A lot of money is being spent on research into genetic markers for autism. There is not just one, there are dozens of candidate genes for autism and, unlike Downs which is present from conception, there are as yet unknown environmental factors which may contribute to gene expression. Yet every discovery is trumpeted as leading to a possible cure or a genetic test to prevent autistic babies from being born.

This is damaging for a number of reasons.

  1. If a cure is thought to be just a few decades away this will divert funding way from research into ways of improving outcomes for people who are already autistic.
  2. To justify the huge expenditure autism has to be hyped as a health crisis that is devastating lives, when in fact it is lack of understanding and the irrational fears that this sort of hype encourages that are the biggest obstacles for many families.
  3. If autism is so unremittingly awful and the genetic solution is hyped as twenty years down the line parents of newly diagnosed children are going to be vulnerable to the biomedical quackery that is already entrenched among some sections of parents.
  4. Existing autistics will be viewed at best as victims and not as human beings with equal rights to acceptance and ethical treatment.

As public opinion increasingly lines up behind scientific opinion on the unfeasibility of the autism vaccine hypothesis it is important that we speak up for autism acceptance and challenge the triumphalism in those quarters of the mainstream medical and scientific research community that seek to eliminate diversity.


7 thoughts on “Downs but not out.

  1. I could barely believe termination was suggested when we found out for sure Christopher had Downs. The prognosis was: He may never walk, or talk, or know who you are. He will likely be institutionalized as an adult.
    I had taught some special ed. art. I had enjoyed lunching at their table for several years. I knew this prognosis was either exceptionally cautious, or woefully outdated.
    I checked library resources. sad.
    This was 9 years ago.
    When Autism was suspected in Ezra, again I had more hope than the docs offered. Again, I had to search deep to find anyone who didn’t see the need to train my son into “normal”.
    sorry to go on so long. I don’t even think I made a point, except I was better prepared by the nonsense I got handed the first time around.
    oh, and bringing happiness to a parent stood out as rather Allison Singer to me. maybe I misinterpret.

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  3. “As public opinion increasingly lines up behind scientific opinion on the unfeasibility of the autism vaccine hypothesis it is important that we speak up for autism acceptance and challenge the triumphalism in those quarters of the mainstream medical and scientific research community that seek to eliminate diversity.”

    You are opposed to research?

  4. Suzanne,
    I agree that giving parents unrealistically low expectations is damaging. Negative messages from medical practitioners, who are sometimes unaware of the benefits of non-medical approaches, are almost guaranteed to drive some parents into the hands of the quacks.
    In a narrow sense the doctors are right. Autism is not treatable. The problem is that when you present autism as an untreatable medical problem you open the door to DAN! and others who claim that autism is a treatable medical condition. But is autism a medical condition?
    I am one of those who contest the pathologizing of human diversity in general and autism in particular. That does mean I am against research. I welcome the research that has provided scientific answers to the question of vaccines and autism. But I do question the rationale behind a lot of the research into autism.
    This post started with Downs Syndrome. Downs is, on the surface, far less complex than autism and it is an obvious medical condition with an identifiable genetic cause. But, according to the Downs Research Foundation,
    “Down’s syndrome is not a single problem. It is caused by an extra set of (approx) 225 genes and this may sound like a single problem, but actually it might turn out to be 225 problems. Modern technology has made it possible to study what the genes do and fix anything that can be fixed. Heart defects effect 30 to 40% of babies born with Down’s syndrome. Many babies are cured of this very serious problem with open heart surgery. Leukaemia happens more often in our children but with powerful new drugs it can be cured. For some reason our children are less at risk for solid tumours; we might not want to change that situation. ”
    Think about that. The genetic defect that causes heart disease in some cases of Downs Syndrome and increases the rise of Leukaemia may also protect against other cancers. “We might not want to change that situation.” Especially if we can fix the heart disease and cure the leukaemia but have less chance of curing the solid tumours that are more common in non Downs children.
    Is there anything close to that perspective in the gung ho approach of many of the genetic researchers into autism?
    When Kari Dunn Buron spoke at a recent conference in Birmingham she made the point that in twelve months time she would not deliver the same talk because the science will have moved on.
    She gave an example. Research has shown that face recognition usually activates the fusiform gyrus in the brain. In autistics the inferior temporal gyrus lights up. This is an area typically used for recognizing inanimate objects. Research like this is used to support the hypothesis that autistics are object oriented rather than people oriented. But Karin pointed out that when you show pictures of buildings to architects their fusiform gyrus lights up in brain scans. So the fusiform gyrus is the part of the brain that responds to the things and/or people that interest us most. The clincher, as I wrote in Asperger Syndrome in Adolescence, edited by Lianne Holliday Willey is the finding by Karen Pierce at the University of California, that the fusiform gyrus is also activated in autistic subjects who are shown pictures of their parents.
    We need to undertand the workings of the human brain a lot more before we presume to know how autistic brains differ from the norm and seek to modify the genes we think are responsible for those differences. I support more research and less cures based on incomplete findings.

  5. Another key issue, which you did point to (thanks!), is that research focused on eliminating births of people with ASDs will wreck the few services we do have. This is already happening in spina bifida services–the majority of fetuses shown to have spina bifida and similar conditions are now aborted, and people living with spina bifida are now finding that the specialised services they need are closing down. Very sad. And that’s with a condition that really is quite difficult to live with and always causes medical problems and physical distress. To think that the same would be considered with ASDs is very distressing. We understand too little to even think of it.
    I often wonder what will ultimately happen to all the kids with ASDs whose parents are caught up in the pursuit of cures when they are not cured. The best services have always been those set up by families, as we want to ensure that our children and the adults they become are cared for (and advocated with/for) properly.

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