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Getting it wrong and telling it right

Posted in Attitudes to disability, Campaigns, Personal, Screening by Matt at WelcometoIllinois on January 2, 2010

My older sister is currently expecting her second child. Being a few years older, and therefore statistically more likely to have a child with Down’s syndrome, and also having seen from our experience that it pays to be prepared, she is likely to have a combined test in the coming weeks to assess the possibility that my new niece or nephew has DS.

However, this post isn’t about my sister or the next addition to our family. Its about the health care “professional” who told my sister that she shouldn’t be overly concerned there is a history of Down’s syndrome in the family since the link is via her brother (me) and Down’s syndrome “is passed down the mother’s side”.

The ignorance revealed in that statement is staggering. To be clear, Down’s syndrome can be the result of inheritance from one of the parents (who would not show any signs of chromosomal abnormality) but that form of translocation occurs in only 1/3 of 4% of cases of Down’s syndrome, and in any case can be inherited from either the father or the mother.

This information itself would only be relevant in my sister’s case if G had Translocation Down’s syndrome, which he doesn’t. But then it sounds like the health care worker concerned is having trouble with the basics, let alone the difference between Trisomy 21, Translocation and Mosaic Down’s syndrome.

It is frightening to think that someone lacking a basic understanding of Down’s syndrome is providing advice to expectant couples.

It is also a timely reminder that the Down’s Syndrome Association’s Tell it Right campaign involves a petition to the UK Prime Minister to provide high quality information in the diagnosis of Down’s syndrome. For those in the UK there are just five days left to sign the petition.


UK press wakes up to Down’s syndrome statistics

Posted in Media, Statistics by Matt at WelcometoIllinois on October 27, 2009

Back in April I reported on the latest statistics on Down’s syndrome births in England and Wales from the UK’s National Down Syndrome Cytogenetic Register, noting that I hadn’t seen any reporting of the latest statistics in the mainstream press.

Six months, and an article in the British Medical Journal, later and Down’s syndrome stories are in all today’s newspapers. As Simon Barnes notes, “it seems that we are in the middle of a veritable plague of Down’s syndrome”.

Take your pick:
The Telegraph: Three babies aborted every day due to Down’s syndrome
The Independent: Big increase in number of Down’s pregnancies
Reuters: Abortion of Down’s babies rising
The Press Association: Older mums link to Down’s increase
The Times: Surge in Down’s pregnancies is matched by surge in terminations
The Daily Mail: Down’s syndrome cases soar as women delay starting a family
ScienceDaily: Increase In Down Syndrome Offset By Better Screening
The Telegraph: Increasing number of women being diagnosed with Down’s syndrome babies
The Guardian: Delayed motherhood behind increase in Down’s syndrome babies, research says
The BBC: Steep rise in Down’s pregnancies
The Guardian: Steep rise in Down’s syndrome pregnancies
Daily Mirror: 71 per cent rise in Down’s syndrome diagnoses
Channel 4: Down’s syndrome cases increase

I haven’t read all of these, obviously, but those that I have read offer little beyond the statistics that have been generally available for six months. Congratulations, I suppose, to the Queen Mary college press team for getting the stats reported.

UPDATE – I have now read them all. Some interesting points from The Times story:

  • “Researchers found that the proportion of cases diagnosed antenatally in women under 37 has risen over the time period, from 3 per cent to 43 per cent. However, among older women, a consistent 70 per cent of affected pregnancies were diagnosed antenatally.”
  • “Professor Morris added that further research was at risk because funding for the national register, provided by the Healthcare Quality Improvement Partnership, was guaranteed only until March 2010.”
  • “One woman, who chose to have a termination after a Down’s diagnosis, said: “Everybody says they know what they’d do in that situation. But you don’t. You never know until it happens to you.””
  • – UPDATE

    There are also some stories that go beyond the statistics:
    Daily Mail: Older men five times more likely to father children with birth defects
    The Times: Women’s choices on Down’s syndrome screening must be informed ones (commentary from Carol Boys of the DSA)
    The Guardian: The upside of Down’s syndrome (More commentary from Carol Boys)
    The Telegraph: The Fergusons: living with Down’s syndrome
    The Telegraph: Belinda Benton: I had healthy baby despite Down’s syndrome risk
    The Times: Actually, having a child with Down’s syndrome is no big deal

    The last one, written by the aforementioned Simon Barnes is a really concise, well-written commentary:

    “My second child, Eddie, 8, has Down’s syndrome and, you know, it’s not that much of a big deal. It’s remarkably like being a parent, as a matter of fact. All you need is unconditional love,” he writes… He’s a valid, viable, useful and cherished member of his society: why on earth should he be anything else?”

    UK politicians form All Party Parliamentary Group on Down’s Syndrome

    Posted in Campaigns, Politics by Matt at WelcometoIllinois on August 27, 2009

    Some time ago I lamented the fact that the UK didn’t have an equivalent of the US Congressional Down Syndrome Caucus.

    The Down’s Syndrome Association reports that has now been put right with the formation of All Party Parliamentary Group (APPG) on Down’s syndrome including 26 MPs, the DSA and DownsEd “to inform MPs and Lords about many of the issues facing people with Down’s syndrome and their families, and ways in which policy changes can improve their quality of life.”

    The DSA reports that the APPG has agreed to supports its Tell it Right campaign to improve the quality of information about Down’s syndrome that is given to parents after they have received a prenatal or postnatal diagnosis of Down’s syndrome via a UK equivalent of the US Prenatally and Postnatally Diagnosed Conditions Awareness Act.

    The DSA also reports:

    “As well as establishing current public funding for research (medical, social and educational) the Group have also agreed to work to establish two National Working Groups, the first to develop a multi-disciplinary, co-ordinated research strategy for Down’s syndrome, and the second on Best Practice Standards in health and medical care, early development, education (including adults), adult social care and employment support.”

    Down’s Syndrome Association campaign to improve information for parents

    Posted in Campaigns, Charities, Diagnostic testing, Politics by Matt at WelcometoIllinois on April 16, 2009

    June 8-14 is Down’s Syndrome Awareness week in the UK and I just found out that the Down’s Syndrome Association’s campaign this year is a topic that I have written about often: improving the quality of information about Down’s syndrome that is given to parents after they have received a prenatal or postnatal diagnosis of Down’s syndrome.

    As the announcement states:

    “Research from the Down’s Syndrome Association and the Foundation for People with Learning Disabilities has revealed huge disparities in the quality of information and support for parents when they are given a pre or postnatal diagnosis of Down’s syndrome.

    Some have excellent and knowledgeable healthcare professionals. Others are given negative, confusing and unhelpful information.

    We think there should be legislation that ensures consistent and accurate information for people who are given a diagnosis of Down’s syndrome or other prenatally and postnatally diagnosed conditions.”

    I have previously mentioned that we were luck enough to receive a huge amount of incredibly useful and supportive information about Down’s syndrome, but only after G was born, and while I was very happy to receive it, it did annoy me that the information hadn’t been given to us sooner.

    I do not think that the information would have changed our opinion, but I do think it would have made us more comfortable in knowing he support that is available during what it a very difficult and distressing decision-making process.

    The DSA notes that the Prenatally and Postnatally Diagnosed Conditions Awareness Act recently became law in the US and has created a petition for to be sent to the UK government for similar legislation to be introduced in the UK.

    Needless to say I’ve added my name to the list. If you are a UK citizen and you support the petition’s aims, please do sign up.

    Charities lead changing attitudes to Down’s syndrome

    Posted in Attitudes to disability, Support services, Surveys by Matt at WelcometoIllinois on November 29, 2008

    Ignoring the questionable reporting of medical statistics for a moment, there is no doubt that the Down’s Syndrome Association’s survey of parents indicated improved attitudes towards Down’s syndrome in the UK.

    “Initial results show that 25 per cent said they already knew people with Down’s syndrome or other disabilities and that had influenced their decision to continue with the pregnancy. Thirty-five per cent said they felt life and society had improved for people with Down’s syndrome.”

    An article in The Times today says responsibility for that lies with charities like the Down’s Syndrome Association and Mencap.

    “The Down’s Syndrome Association, along with Mencap, has been instrumental in this change – by putting the emphasis on changing attitudes, facilities and support in society. It’s done this to the deliberate exclusion of research into the causes of learning disability, on the basis that it had to send out a clear message about the worth of people affected,” writes Simon Crompton.

    “With giddying amounts being spent on research into stem cell and other therapies and new diagnostic tests for congenital conditions, the Down’s story is a reminder that sometimes we can get too carried away with the science of prevention, forgetting that some conditions are only severely disabling because we’re not investing enough in supporting families affected by them,” he adds.

    Statistics provide mixed account of Down’s syndrome in UK

    Posted in Media, Screening, Statistics, Surveys by Matt at WelcometoIllinois on November 24, 2008

    It is being widely reported today that the number of children born with Down’s syndrome in the UK has increased since screening tests were introduced in 1989. However, the figures reported by the media only tell half the story.

    Official figures from the National Down’s Syndrome Cytogenetic Register reported today indicate that there were 749 Down’s births in 2006 (the most recent year for which numbers are available), up from 717 in 1989 when screening tests came in (the number fell to 594 in 2000).

    However, these figures are somewhat misleading, thanks to the fact that the number of diagnosed cases of Down’s syndrome has increased significantly since 1989 as well. Proportionately, less children with Down’s syndrome are born today than in 1989 or 2000.

    The figures from the National Down’s Syndrome Cytogenetic Register (PDF) indicate that there were 1,033 diagnosed cases (both pre- and post-natal) in 1989, of which 717 (69%) were live born. In 2000 there were 1,369 diagnosed cases of which 594 (42%) were live born. In 2006 there were 1,877 cases of which 749 (40%) were live born.

    Any suggestion that widespread screening has not had an impact on the number of children with Down’s syndrome being born is therefore incorrect.

    The figures indicate that just 2% (46) of all diagnosed cases (1,877) in 2006 were prenatally diagnosed and resulted in a live birth, compared with 41% (767) resulting in termination. For 16% there was no known outcome, and it is estimated that 6% of those are likely to have resulted in a live birth. If that is accurate 5.6% of prenatally diagnosed cases of Down’s syndrome resulted in a live birth in 2006.

    You won’t read any of these statistics in mainstream media, all of which have taken the results of the survey and the birth count and repeated it without any further research, despite the fact that the link to the research was published in the Down’s Syndrome Association’s press release.

    As widely reported, the BBC and the Down’s Syndrome Association have put together a survey of 1,000 parents to find out why they had continued with their pregnancy. which indicates that there is a more positive view of Down’s syndrome.

    According to the BBC report:

    A fifth said they had known somebody with Down’s, a third cited religious or anti-abortion beliefs and 30% felt life had improved for people with Down’s. Almost one in five said they simply did not believe the results of the test.

    The survey was put together to coincide with a program, Born with Down’s to be broadcast on BBC Radio 4 this evening.

    See also The Guardian, The Times, and The Independent.

    See also:
    More on those UK Down’s syndrome stats
    Reporting of UK Down’s syndrome stats irritates birth register head
    Charities lead changing attitudes to Down’s syndrome
    Putting Down’s syndrome statistics in context

    The Genetics of Down’s syndrome

    Posted in Charities, Genetics, Scientific research by Matt at WelcometoIllinois on October 19, 2008

    Our membership pack from the Down’s Syndrome Association arrived yesterday and is rammed full of interesting and helpful literature, including a booklet on “The Genetics of Down’s Syndrome”.

    It is the best explanation of the subject I have read an includes background details on cells, genes and chromosomes and cell division, as well as an explanation of the different types of Down’s syndrome and how they occur.

    The genetics of Down’s syndrome is one of those areas that I am confident I understand as I read or hear about it but find it almost impossible to explain in my own words later.

    At some stage I will write up my understanding of the genetics on this blog with the hope that it helps me to truly take it in and be able to articulate it properly.

    I am far too hungover for that today to be completely honest, so for now I will point out that the booklet it available for purchase from the Down’s Syndrome Association, while an online version is available to read here.

    Information for new Down’s syndrome parents in the UK

    Posted in Campaigns, Support services by Matt at WelcometoIllinois on October 16, 2008

    Given our recent experience of having a baby with Down syndrome I thought it would be interesting to take a look at the information given out to parents in the UK, or at least at Queen Charlotte’s & Chelsea hospital.

    I was surprised not to receive this leaflet for new parents from the Down’s Syndrome Association, although given that we had known since March that our baby has Down’s syndrome we have already received two or three copies and our experience may be a little different from other parents I suspect.

    The New Parents Guide is a really good information resource, with a Q&A, contact information and advice on dealing with the news, how to tell others, and likely implications. It manages to balance discussing some difficult issues with a positive outlook without being patronising.

    As for the information we were given after the birth. The first was Supporting People with Down’s Syndrome, again from the Down’s Syndrome Association.

    It’s a brief overview of the DSA and what it does but doesn’t really provide much information other than that. I would hope that parents that have just found out that their child has Down’s syndrome would also be provided with the New Parents Guide, although of course they would also be involved in the counselling we received back in April, and I’m pretty sure it given to us then.

    The second information resource we were given was Bright Beginnings, from the Down’s Syndrome Research Foundation, an organisation I was not previously aware of.

    It’s a much better source of information and includes medical information and stories from parents about what it’s like to bring up a baby with Down’s syndrome, as well as one from a woman with Down’s syndrome. It’s a useful booklet for new parents, although a lot of the information is US-centric and it was evidently published at least four years ago.

    Having devoured an enormous amount of information about Down’s syndrome since March there wasn’t a lot in either that was new to us, but I think Bright Beginnings would have been particularly useful had it been handed to us back then.

    Of course we are only just entering the network of Down’s syndrome-related care and service providers, and as I’ve previously noted there was a lot more information to come.

    Down’s Syndrome Association hit by credit crunch

    Posted in Charities by Matt at WelcometoIllinois on October 4, 2008

    Sky News reports the unfortunate news that current economic conditions are having an impact on charitable giving in the UK.

    It is a sad fact of life that charities are hit worst when the need it most, and it is particularly unfortunate to see the Down’s Syndrome Association finish its financial year with a £212,000 ($375,000) deficit, spending restrictions and a recruitment freeze.

    It may not make much of an impact on that deficit but I have been prompted to do my bit by becoming a member. Although we’ve barely engaged with the DSA I think we’ve probably already got our money’s worth.