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Research from the Egenis research centre at the University of Exeter suggests that parents of children with genetic conditions would rather avoid prenatal testing with subsequent pregnancies – and indeed actively avoid subsequent pregnancies – due to the the the moral or existential dilemma raised by the limitations for diagnostic testing.

This report from the University of Exeter notes that “more than two-thirds of parents in the USA-based study chose not to have any more children rather than accepting tests to identify or avoid the birth of an affected child. Of the parents who did have further children, a majority chose not to make use of prenatal screening or testing.”

Dr Susan Kelly, a Senior Research Fellow at Egenis said: “Many parents did not perceive the information they understood to be available from prenatal testing to be useful or relevant to their sense of responsibility and control. Experiencing the birth of an affected child for some parents exposed the limitations of medical knowledge and practice, and placed medicine alongside other forms of interpretation and evidence. Interventions such as genetic testing for many were associated with uncertainty and a loss of control for parents as responsible caretakers and decision makers.”

I would absolutely agree that the loss of control and sense of helplessness was one of the reasons I have such a negative view of pre-natal testing following our experience. I documented in Waking Up in Illinois how a desire to regain control over our situation almost drove us towards termination.

Given that termination is the only decision that will result in a definitive outcome and place us back in control of the situation, it begins to become almost the default option, even though it is not the decision that either of us want to take.

I cannot explain how glad I am that we did not take that decision but I can understand why for so many people it is the decision they take to regain control, and I completely understand why in subsequent pregnancies people would avoid losing control in the first place.

The full study, Choosing not to choose: reproductive responses of parents of children with genetic conditions or impairments, is available from Sociology of Health & Illness.

It also notes that “many parents did not perceive the information they understood to be available from prenatal testing to be useful or relevant to the circumstances of their reproductive decisions; that is, to their sense of responsibility and control” and that “Many parents expressed a significant disjuncture between biomedical views of genetic conditions or impairments and parents’ lifeworld experience.”

The Washington Post has published an interesting story about the implications of new non-invasive testing techniques.

However, the story is pretty much a re-hash of the issues discussed in this article in the same paper in October 2006, which I covered here.

A clue as to why the story has been rehashed comes from the fact that funding for the Prenatally and Postnatally Diagnosed Conditions Awareness Act, which was approved in September.

“The new tests for Down syndrome come as advocates pressure Congress to fund a law passed last year aimed at ensuring that couples get accurate information about genetic conditions and at providing support for women who decide to keep their affected children or put them up for adoption.

“These tests make this all the more important,” said Madeleine Will of the National Down Syndrome Society, which is seeking $25 million over five years to implement the legislation. Society members are gathering in Washington this week to lobby on this and related issues. “

This is a great little film. No wonder it won the Tropfest short film festival. It features Gerard O’Dwyer, who also won the best male actor award. he has Down’s syndrome.

I can’t seem to link to it directly, but you can find it here.

How do you explain Down’s syndrome to a three-year-old? It’s a question that’s been on my mind recently, even though there doesn’t seem to be a great need to do so at the moment (my wife has mentioned it to J on one occasion but he was too busy pretending to be a tiger or something).

Amy Silverman has written an interesting post about the books she found in her “Down syndrome box”.

They include some of the most recommended books on Amazon – We’ll Paint the Octopus Red and The Best Worst Brother – both of which get short shrift:

“The real truth is that if these books weren’t about Down syndrome, I’d never, ever give them a second look in a bookstore. The writing’s sappy and dull and — even worse — the illustrations suck.”

The third book – What’s Wrong with Timmy? – is described as “even worse”.

Amy does have good things to say about My Friend Isabelle by Eliza Woloson, which is the only one of the books mentioned that I hadn’t heard of before and she describes as “whimsical, funny, beautifully illustrated and a little bit heart breaking”.

Does anyone else have any good suggestions?

Following up on my earlier post.

The Washington Post reports:

Thousands of parents who claimed that childhood vaccines had caused their children to develop autism are wrong and not entitled to federal compensation, a special court ruled today in three decisions with far-reaching implications for a bitterly fought medical controversy.

The New York Times adds:

These three decisions, each looking into a different theory as to how vaccines might have injured the children, are expected to guide the outcomes of all [5,000 similar] claims.

The judges ruled that the families seeking compensation had not shown that their children’s autism was brought on by the presence of thimerosal, a mercury vaccine preservative, by the weakened measles virus used in the measles/mumps/rubella vaccine, or by a combination of the two.

The Washington Post continues:

The decision by three independent special masters is especially telling because the special court’s rules did not require plaintiffs to prove their cases with scientific certainty — all the parents needed to show was that a preponderance of the evidence, or “50 percent and a hair,” supported their claims. The vaccine court effectively said today that the thousands of pending claims represented by the three test cases are on extremely shaky ground.

In his ruling on one case, special master George Hastings said the parents of Michelle Cedillo — who had charged that a measles, mumps and rubella (MMR) vaccine caused their child to develop autism — had “been misled by physicians who are guilty, in my view, of gross medical misjudgment.”

Hastings said that he was deeply moved by the suffering autism imposed on families such as the Cedillos, but that “the evidence advanced by the petitioners has fallen far short of demonstrating . . . a link.”

I was thinking about the issue of acceptance or patronisation and mascots on the way into work on the tube this morning and have refined my thoughts a little. My point is this:

When we found out G had Down’s syndrome I began adjusting my expectations for him. This was hard to do, and sometimes remains so, but over time I have accepted that my expectations for G are not *lower* than those I have for J, they are just different.

Sometimes when I let my mind wander I imagine J one day being a professional football player, and if I get carried away I maybe daydream about him playing for my team, Southampton, or even for England. (I assume all parents do something similar).

As J grows up and we find out what he is good at and what he is capable of my hopes for him will adjust to fit his capabilities.

When I daydream about G I imagine him one day playing football for a team of people with Down’s syndrome or other learning disabilities, and if I get carried away I maybe daydream about him competing in the Special Olympics or representing his country in a similar event.

Similarly as G grows up and we find out what he is good at and what he is capable of my hopes for him will adjust to fit his capabilities.

What I don’t daydream about for G, however, is that he sits on the sidelines of the school team for years before someone eventually decides to give him a token five minutes in the last game of the season.

If G wants to be part of a team in that way I will of course support him, and if they do give him a token chance – whatever the motivation – I will of course be happy for him and proud of him. But I can’t help wanting so much more for my son. G’s achievements will be limited by Down’s syndrome, but they should be defined by it.

This is a bit off-topic but I think it is important to spread the word given that the health of children is at stake. The Sunday Times reports:

“The doctor who sparked the scare over the safety of the MMR vaccine for children changed and misreported results in his research, creating the appearance of a possible link with autism, a Sunday Times investigation has found.

Confidential medical documents and interviews with witnesses have established that Andrew Wakefield manipulated patients’ data, which triggered fears that the MMR triple vaccine to protect against measles, mumps and rubella was linked to the condition.”

I find it fascinating – not to mention alarming – that Wakefield’s report continues to dominate thinking about the MMR jab over ten years after it was published, despite the countless subsequent reports that have either disproved or failed to support its claims.

It would be funny if the impact on our children wasn’t so potentially tragic. As The Guardian reported this week:

“Measles cases have risen to a record high as children who were never vaccinated against the disease become ill, the Health Protection Agency said yesterday.

Last year there were 1,348 cases of the disease in England and Wales, the HPA said, up from 990 in 2007. Those numbers may yet rise as more reports come in.

The agency blamed the increase on a paper from Dr Andrew Wakefield and colleagues published in the Lancet in 1998 which hypothesised a link between the MMR vaccine and autism. Although that claim has been demolished, the fallout continues.”

As a report from the British Medical Journal, also in The Guardian pointed out:

“Children occasionally die from measles. These are usually children who have not been vaccinated. In the early 1990s, more than 150 children died in the US because of a measles outbreak among young children who hadn’t been vaccinated.”

Today’s Sunday Times report states:

“The research was published in February 1998 in an article in The Lancet medical journal. It claimed that the families of eight out of 12 children attending a routine clinic at the hospital had blamed MMR for their autism, and said that problems came on within days of the jab…

However, our investigation, confirmed by evidence presented to the General Medical Council (GMC), reveals that: In most of the 12 cases, the children’s ailments as described in The Lancet were different from their hospital and GP records. Although the research paper claimed that problems came on within days of the jab, in only one case did medical records suggest this was true, and in many of the cases medical concerns had been raised before the children were vaccinated.”

Along with two other professors, Wakefield is defending himself against allegations of serious professional misconduct brought by the General Medical Council related to ethical aspects of the study, rather than its findings.

However, ten of the original 13 authors of the report retracted their findings in 2004, while the editor of The Lancet admitted that in hindsight it should not have been published due to conflicts of interest.

Just last month the senior vice-president of communications and strategy at Autism Speaks, resigned from the charity in a dispute over the continued funding of research into the original report’s findings.

“If you keep looking under the same rock, you’re going to keep finding the same thing,” said Singer. “Over and over, the science has shown there is no causal link between vaccines and autism. It’s time to look for answers in new and different places.”

The position of the Down’s Syndrome Association on MMR, incidentally, states:

“The vast majority of independent research bodies, who have looked into the evidence relating to MMR and autism, have found no good quality evidence linking the two. There is no reason to suggest that children with Down’s syndrome would be any more at risk of adverse side effects. The diseases which MMR protects against would be likely to be serious for a child with the syndrome, and single vaccines would leave the child at risk from these diseases for longer.”

I should perhaps note that The Sunday Times report concludes:

“Through his lawyers, Wakefield this weekend denied the issues raised by our investigation, but declined to comment further.”

“Patrick Thibodeau, who has Down Syndrome, trotted onto the floor Tuesday night for the team’s final home game of the season. When the time came to shoot, he nailed a 3-pointer for the second basket of the game. He hit another at the final buzzer,” reported USA Today earlier this week.

It sounds like a heart-warming tale of a young man overcoming disability with real achievement. Add in the fact that his father, the team’s statistician, “was released from a hospital early – he suffered a stroke two weeks ago – so he could witness the event” and its no wonder the TV news was all over it.

However, this report of the same story from disabilityscoop paints a slightly different picture:

“Patrick Thibodeau attended all the practices and all the games. But until this week, the high school senior with Down syndrome had done little more than fill water bottles and cheer on the sidelines during his high school basketball team’s games.”

As Amy Silverman at Girl in a Party Hat writes:

“I looked hard at that kid with Down syndrome on that Today Show segment about high school basketball and thought, Man, I hate this story. A lot. The kid filled water bottles for what, 9 years, so they gave him a few minutes on the court.”

I had a similar feeling myself when I read this report about a woman with Down’s syndrome being made manager of a coffee shop. Sort of:

“Staff tweaked the job description to suit Natalie, whose schedules now expands to five days a week from three. Instead of doing paperwork, she’ll be in charge of greeting customers and serving tables.”

Not to diminish the achievements of these individuals, but both stories indicate that they are being more than a little patronised.

As Maya at Everything Happens for a reason writes:

“The water bottle and the nine years part made me sad. And of course it made me sad that this kid couldn’t play basketball and score a basket and just be like everyone else, that it had to be some grand, big thing that he got to play in a game and all because he has Down syndrome… I want our kids to be included and recognized, but not as charity cases. I want Leo to fit in because he does, not because someone feels sorry for him.”

Or as Dan Olmsted of Age of Autism writes:

“If the kid can play, let him play, not pick up sweaty towels. Don’t make inclusion on the court or on the field a ‘very special,’ made-for-TV story. Make it typical.”

Or maybe we’re all just too cynical. As Libby at Blessings and Glory writes:

“Charlie and I cheered (and I cried a bit.) I pray that our local high school students will be as accepting of our Charlie.”

And I watched the video myself and when Patrick’s Dad says of his first basket “I knew that was Patrick, especially when it went in. Best feeling you could ever have in your life. Just become a parent and you’ll find out why” you can see he couldn’t be prouder.

And I don’t know because the last thing I want is for G to be patronised but maybe if someone went out of their way to make G welcome and involved him in their team, or their workplace, and made him feel accepted, and gave him a chance to shine – even for a moment – then how could I begrudge that?

But its nice to know that I am not alone in feeling a bit sad about that too.

I’m pretty busy at the moment so I’m just going to link to some recent items of interest for the time being:

• Specs4Us produces glasses frames especially designed for children with Down’s syndrome.

• The court case against four Google executives for allowing a video of a boy with Down’s syndrome being bullied to be posted on its Italian Google Video site has been delayed until later in the month. I;ve previously posted my thoughts on the matter here.

This report from eWeek nicely explains the issues at the heart of the case:

“Under Italian law, Internet service providers are not responsible for third-party content, but they must remove objectionable material if complaints are received. Content providers such as Google, however, are responsible for all posted content.

‘Google is arguing that it is an Internet service provider and the Italians are arguing Google is a content provider,’ [International Association of Privacy Professionals' executive director Trevor] Hughes said.”

• Ante-natal screening test supplier Sequenom has revised details of tests for its new non-invasive screening technology.

It previously stated it had achieved 100% accuracy on positive results and 99.9% on negative results. It now claims 96.6% on positive results and 100% on negative results. Yahoo Finance has the details.