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31 for 21 in retrospect

Posted in This blog by Matt at WelcometoIllinois on October 31, 2008

When I decided to take part in the 31 for 21 challenge I don’t think I’d really thought through what would be involved.

Blogging every day for the month of October in an attempt to raise awareness of Down’s syndrome meant an increase in my blogging output, of course, but I was forgetting that I would be returning to work and would also face the loss of sleep involved with having a one-month-old a and two-year-old. I’m exhausted!

Still, it’s been an education, and I’m glad I took part.

Two topics have dominated the last month for me. The first is disability as an issue in the US election. I compared the two parties’ policies here, ranted about Sarah Palin here, and gave her a (very) little bit of credit here.

The other major issue was ante-natal testing for Down’s syndrome. I wrote about new non-invasive testing research, the importance of accuracy, the wider debate prompted by DNA testing, and the question of whether screening for Down’s syndrome is ethical.

Another significant issue was research into learning disability, including the role of Siberian hamsters and the potential role of pentylenetetrazole, or PTZ in improving memory.

Also covered was the potential use of drugs used to treat patients with Alzheimer’s to improve the cognitive abilities of people with Down’s syndrome, a study to compare literacy intervention approaches, and the funding of Down’s syndrome research.

Then there was the matter of blogs that take a negative view Down’s syndrome and the conversation with AC of End Down Syndrome that followed.

I enjoyed taking the opportunity to educate AC a little given my limited experience with Down’s syndrome, and I think the conversation justified covering a difficult topic. I also enjoyed tackling AC’s question on the matter of gene therapy.

I also finally had a chance to see Tropic Thunder for myself and report first hand on the controversy, or lack of it.

There was bad news for the Down’s Syndrome Association, and good news for DownsEd.

I also took a look at the Down’s syndrome-related information and range of disability support services available to new parents in the UK.

I even opened up a bit with details on our feelings following the birth of our little boy, our first trip to A&E and my first day back at work, although I ultimately decided to remain anonymous.

Not that I was up for posting every day, and I cheated a bit by publishing excerpts of an article in The Times, a note about my blog stats, and also wrote about Christmas cards, and T-shirt slogans.

And I never did write that follow-up to this post on the genetics of Down’s syndrome.

Still, there’s always next week. Just as Down Syndrome Awareness Month ends in the US, Down Syndrome Awareness Week begins in Canada.

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The importance of accuracy in Down’s syndrome testing

Posted in Diagnostic testing, Screening by Matt at WelcometoIllinois on October 28, 2008

The Independent has a really interesting story today about the comparative accuracy of the various tests available for Down’s syndrome in the UK. The report’s author, Annalisa Barbieri, asks why the most accurate test is only availble at two NHS hospitals even though the estimated cost of adding the test is “about £25”.

Barbieri’s argument is not based on a desire to improve detection rates in order to increase terminations but to give parents an accurate picture of the various risks they face.

Having been through the process of trying to weigh up various conflicting statistics in order to decide whether to continue with the pregnacy of our child I have to agree that, if you assume that there is zero chance of getting rid of testing for Down’s syndrome, then the most important issue has to be ensuring that the tests are as accurate as possible.

Based on the combined nuchal fold and blood test we were told there was a one in 76 (1.3%) chance that our son had Down’s syndrome, while the combined test had a 95% accuracy rate. So it was 3.8 times more likely that the result was wrong than there was that he had Down’s syndrome. How is someone supposed to make a decision based on statistics like those? 

This is why I am in favour of new non-invasive DNA testing currently being developed, although that’s another matter.

As Barbieri points out “The bottom line is that if women have screening tests with a low rate of accuracy, the reality is that they are more likely to opt for invasive tests that put their babies at risk.”

Reducing the number of amnios and CVS tests should also help reduce the number of healthy babies that are miscarried thanks to invasive testing (400 for every 660 babies with Down’s syndrome identified and terminated according to recent research).

From the Independent story:

“Let’s take the tests in turn. The first was the double test. This took maternal age into account as well as looking for two blood markers: alpha fetoprotein (AFP) and human chorionic gonadotrophic (hCG). AFP tends to be decreased in Down foetuses, hCG increased. It has a 59 per cent accuracy rate: that is, it picks up 59 per cent of babies affected. The triple test added another marker to the blood test, uE3, which tends to be decreased in affected babies. Its detection rate is 63 per cent. The quadruple test added a further marker, inhibin A, which tends to be increased in foetuses with trisomy-21; the quad test is picks up 72 per cent of affected babies.

After this came the combined test, which added to the blood tests by combining data from a nuchal fold scan (which must be done between 11 and 13.6 weeks). Research had found that the thicker the nuchal fold the more likelihood of a baby having Down syndrome. (New markers now also look at other markers such as the presence of the nasal bone – the sooner this is visible, the less likelihood of the syndrome – and the tricuspid valve flow through the heart.) The combined test is said to be 76 per cent accurate. The nuchal test (NT) on its own is only 69 per cent accurate, but relies heavily on the skill of the sonographer.

Then came what should be the industry standard: the integrated test. This combines maternal age, NT result, one blood test at about 12 weeks that looks for PAPP-A (pregnancy associated plasma protein A) and another blood test at 15 weeks that looks at further biochemistry: AFP, hCG, uE3 and inhibin-A. At worst, it has an 89 per cent detection rate, at best 98 per cent (it is more accurate the older the mother is). Put personally, at 37 I had a risk of 1:200 vs the less than 1:50,000 the integrated test gave me. At 42, I had a risk of 1:55 vs 1:1,900.”

How do Down’s syndrome children learn?

Posted in Charities, Educational research, Learning disability by Matt at WelcometoIllinois on October 26, 2008

A report in ScienceDaily indicates that a study is underway at the University of Denver Morgridge College of Education to compare two early literacy intervention approaches to educating young children with Down syndrome.

The report states:

Researchers are seeking children in the Denver area, ages 2 1/2 to 5, to participate in the study, which will involve a two-day training session to be held at DU followed by an at-home intervention program in which parents will implement the program with their child for approximately 15 minutes per day for approximately 10 months.*

“There has been little to no research on how our children with Down syndrome learn, especially regarding reading and language,” says Michelle Sie Whitten, executive director of the Anna and John J. Sie Foundation and Advisory Committee Chair of The Rocky Mountain Down Syndrome Educational Fund. “There have been significant breakthroughs in terms of how children with other developmental disabilities learn, and I strongly believe that our kids deserve the same attention.”

An international team of experts is contributing to the study, including Sue Buckley from Down Syndrome Education International who has trained the researchers involved.

The report adds:

“What is so exciting and unique about this particular study is that scientifically based research on early learning intervention has been translated into applied research in areas such as autism, but never before in Down syndrome research,” says Karen Riley, assistant professor of Child, Family and School Psychology at DU, and the key investigator driving the pilot study. “In addition, we are attracting researchers for this study who have expertise in other developmental disabilities, and we are applying their knowledge to Down syndrome.”

This study was initiated by The Rocky Mountain Down Syndrome Educational Fund. It is underwritten by a $130,000 gift from The Rocky Mountain Down Syndrome Educational Fund, $10,000 from the McDonnell Foundation and $10,000 from the University of Denver.

Palin delivers commitment for special needs children

Posted in Politics, Scientific research, Support services by Matt at WelcometoIllinois on October 25, 2008

Given my rant about Sarah Palin yesterday the sense of objectivity that remains from my days as a journalist compels me to report on the commitment for special needs funding unveiled by Palin yesterday.

According to the official announcement the commitment covers:

More Choice

  • Allow Parents Of Students With Disabilities To Choose The Best School For Their Child.
  • Make Explicit That Federal Funds Are Fully Portable.
  • Fully Fund The Individuals With Disabilities Education Act (IDEA)

  • The McCain Administration Will Fully Fund The IDEA.
  • Using a phased-in increase of $3 billion annually in order to reach the full funding in five years will cost an additional $45 billion over five years.
  • Reform And Refocus

  • Provide Information And Assistance To Families Of Infants And Toddlers With Special Needs And Up-To-Date Information For Medical Professionals.
  • Increase Funding For States To Improve Services To Families With Infants And Toddlers.
  • Improve Services To Students With Disabilities In High Schools And Community Colleges.
  • I still maintain that if the McCain campaign really cared about funding for special needs the issue would have been added a lot sooner than with eleven days of the campaign remaining. You can find Barack Obama’s plan for disabilities and funding IDEA here.

    Additionally, Palin appears to have put her foot in it once again with a vague reference to “fruit fly research in Paris, France” of all places. (See Memo To Sarah Palin: Fruit Fly Research Has Led To Advances In Understanding Autism).

    Even if you assume you was referring specifically to the $211,509 to Representative Mike Thompson for olive fruit fly research in Paris, France, it debatable whether that has “little or nothing to do with the public good” as she claimed.

    “The olive fruit fly has infested thousands of California olive groves and is the single largest threat to the U.S. olive and olive oil industries,” said Thompson while defending the spending bill in April.

    Having a child with Down’s syndrome is not a political policy

    Posted in Politics, Termination by Matt at WelcometoIllinois on October 24, 2008

    Would Sarah Palin have got the Republican vice presidential candidate nomination if her son had not been born with Down’s syndrome?

    It’s a serious question that has been highlighted by recent public comments by Palin and her use of Trig as a political prop to promote herself as a symbol for the Pro-life movement.

    It’s also a question I think people should be asking themselves as they prepare to elect two of the most important political figures in the world.

    When I wrote back in August that “I can’t help feeling slightly disconcerted about some of the media portrayal of her, and her son, as a symbol of the Pro-Life movement” this is exactly what I had in mind (“Palin: God Gave Me a Down Syndrome Child To Help the Pro-Life Movement”).

    I also wrote that “I don’t think Palin is responsible for the media’s portrayal of her decision to go ahead and have her son”. However I was proved wrong by her declaration that “I’ve always had near and dear to my heart the mission of protecting the sanctity of life and being pro-life, a hardcore pro-lifer, but I think this opportunity for me to really be walking the walk and not just talking the talk.”

    There is something desperately sad about the fact that someone is prepared to use the health of their child as an opportunity to push forward their views in an attempt win votes for political office. The last few weeks have seen an increase in the Republican party’s use of the ‘disability card’.

    When asked to explains the qualities of his running mate during the third presidential debate, John MCain had little to say other than that she is a reformer and she “understands special-needs families”.

    That statement would be understandable if McCain’s campaign had anything to say about children with special needs. As I have mentioned before, it does not.

    Not only that, but Palin herself has precious little of any substance to say about special needs children either, other than that she will be “an advocate” (and the fact that she opposes Colorado’s proposed Amendment 51, which would raise taxes 2 cents on every $10 to increase disability services).

    This report from KVBC is a prime example.

    Alaska Governor and Republican vice presidential nominee Sarah Palin says autism is an issue “near and dear” to her heart and she can’t wait to get to work helping more than 5,000 Nevada families affected by it. However, when pressed, she was unable to provide details on a plan to do that.

    Palin did not name any specific expenditure she wanted to cut in favor of funding for autism research or services, nor did she name what specific programs she’d like to fund in order to help those families.

    Palin has a nephew stricken with autism and a son with Down’s syndrome. She often tells crowds she will be an advocate for disabled children in Washington.

    “Here’s the difference between John McCain and our ticket and Barack Obama and Joe Biden,” she said. “We don’t just talk the talk, we walk the walk. And that’s why in not just that first speech, but in every speech I give, I talk about being an advocate and a friend in the White House for our families who have members who have these special needs.”

    She is right about there being a difference between the two campaigns. It’s called a policy. The report continues:

    McCain has supported autism initiatives in the past, but has not articulated how he plans to advocate for those families from the White House.

    Barack Obama has released a specific plan to help the families dealing with Autism Spectrum Disorder. He has promised $1 billion annually in support and services by the end of his first term as president. He has also promised to appoint a Federal Autism Spectrum Disorder Coordinator to oversee all federal efforts and fully fund the Combating Autism Act.

    The Obama campaign released several documents detailing its plans to help Americans with disabilities.

    Given the lack of a detailed plan, what does Palin mean when she says says she is walking the walk? It’s a euphemism that means, quite simply: “I am so Pro-life I had a disabled child, even though I knew in advance that it would have Down’s syndrome”.

    I will leave aside the fact that plenty of non-Pro-lifers might also make the same decision and that it reveals the hypocrisy among Pro-lifers that continuing with the pregnancy of a disabled child is still seen as extraordinary and simply state that if you’re going to run for office on a single issue like being Pro-life at least have the decency to come out and say so rather than wrapping it up as advocacy for disability.

    Palin is reportedly due to give her first policy speech on Friday on the subject of funding for special education (which means I may later be eating my words. We’ll see.) Even that begs the question as to why Palin’s first policy speech is on an issue that is not part of the McCain-Palin agenda.

    It appears to have been triggered by the response of the public to her and her family, rather than any particular position on special education from the McCain campaign. This is all well and good in terms of raising awareness for children with special needs, but shouldn’t running for Vice President be about more than personal agendas?

    Maybe my view of Pain has been clouded by my perspective and I only see reports about her that deal with her attitude to having a Down’s syndrome child. Having said that, perhaps it is understandable that the Republican party went with special needs for her first policy speech. What were the choices?

    Foreign policy?

    The economy?

    Current affairs?

    Legislation?

    Regulation?

    The vice-presidency?

    A cure for Down’s syndrome?

    Posted in Ethics, Scientific research, Therapeutic treatments by Matt at WelcometoIllinois on October 23, 2008

    An interesting question has been posed on the End Down Syndrome blog that has got me thinking:

    “If tomorrow it could be proven to you that a new gene therapy could cure your child of Down Syndrome overnight, with no side effects and for all intents and purposes your special child would be normal, potentially even smarter than most, would you allow the procedure to be done on your child?”

    There’s no easy answer to that. In fact my first response was to consider its posing as a trap: If you say you would allow the procedure, does that not suggest a rejection of your child and undermine the decision to continue with the pregnancy after diagnosis? If you say you would not consider the procedure, does that not suggest that you would prefer your child to suffer?

    I have written a few times here about research into drugs to improve life for people with Down’s syndrome, and I would have no qualms about making use of drugs and treatments that promised to improve the cognitive and physical abilities of my son.

    Gene therapy feels like quite a different proposition, however, and the suggestion immediately raises questions about fundamentally changing the personality of the recipient. Would you take that risk with your child – Down’s syndrome or no Down’s syndrome?

    It is due to those concerns that it would not surprise me if many parents of children with Down’s syndrome would refuse such a treatment. Returning once again to Simon Barnes’ article in The Times, he wrote:

    “Of course you’d want certain physical things changed: the narrow tubes that lead to breathing problems, for example. But that’s not the same as “changed”, is it? If you are a parent, would you like the essential nature of your child changed? If you were told that pressing a button would turn him into an infant Mozart or Einstein or van Gogh, would you press it? Or would you refuse because you love the person who is there and real, not some hypothetical other?”

    On the other hand, over at Cause of our Joy, Leticia Velasquez wrote an excellent post on this subject a few months ago following criticism of her support for research on a cure. She argued that too often parents “get confused about loving the child and hating the disease”.

    My honest answer is that I do not know what I would decide. That sounds like sitting on the fence, no doubt. However, given that our son is just one month old we do not know how much of an impact Down’s syndrome will have on his life, making it difficult to answer the question at this stage.

    The other issue is that I suspect this is a question that is impossible to answer hypothetically – just as I believe that no one can predict how they will react to an ante-natal diagnosis of Down’s syndrome.

    What I will say is this: I would certainly welcome the scientific advancements that would give me the opportunity to make that decision.

    Top 10 Down’s syndrome T-shirt slogans

    Posted in Off topic by Matt at WelcometoIllinois on October 21, 2008

    In no particular order. The first two are my own and are a sarcastic response to the patronising comments we’ve already heard from people about children with Down’s syndrome, while I stole the third from here. The rest are all genuine t-shirts that can be purchased from Cafepress.

    1. You’d be this happy too if you had an extra chromosome.
    2. I’m a very loving child.
    3. Does this shirt make me look retarded?
    4. I have Down syndrome, what’s your excuse?
    5. I have more chromosomes than you.

    6. My brother got an extra chromosome and all I got was this t-shirt.
    7. Chromosomes. My kid has more than yours.
    8. Ha ha. I have an extra chromosome!
    9. Welcome to Holland.
    10. Got trisomy?

    Good news for DownsEd on both sides of the pond

    Posted in Charities, Educational research, Learning disability, Support services by Matt at WelcometoIllinois on October 20, 2008

    Down Syndrome Education Internatational (DownsEd) has made a couple of announcements that happily enable me to keep my 31 for 21 obligations despite being stupidly busy.

    First the charitable and research organisation announced plans for the first Down Syndrome Education and Research Center based in the USA. According to the announcement:

    “The new center will be a joint venture with the Down Syndrome Foundation of Orange County and will accommodate expansion of the Foundation’s highly successful Learning Program. The center will be based in Orange County, California and is expected to open in early 2009. The new center will offer educational support to families through the Learning Program and will develop evidence-based, educational programs that families across the US will be able use to assist the children’s development.”

    DownsEd also announced that it has been awarded a £0.5m grant  from the UK Big Lottery Fund to test an adapted reading and language teaching programme for children who have Down’s syndrome.

    According to the announcement, DownsEd will: 

    “conduct a multicentre, randomised controlled trial of an adapted reading and language teaching programme and (assuming the intervention is found to be effective) to develop a teachers’ manual and training programme to encourage widespread adoption in schools. Including the dissemination phase, the project will last four years.”

    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.

    Off topic: Simply popular

    Posted in Media, Off topic, This blog by Matt at WelcometoIllinois on October 18, 2008

    Looking at my blog stats I’ve noticed a massive increase in the number of searches for “Simple Jack”, the film within Tropic Thunder that caused such a fuss about Ben Stiller’s satirical portrayal of a Hollywood action star trying to be taken seriously by playing a character with disabilities.

    94% of the searches for ‘simple jack’ that have brought people to Welcome to Illinois have occurred in the last 48 hours.

    The huge increase in searches has resulted in the initial post I wrote about Simple Jack getting three times as many hits in the last two days than it got in the 68 days since it was published.

    So why the sudden interest? It can’t be the Halloween costume connection as Halloween doesn’t crop up in any search terms.

    Meanwhile the US DVD release is still over a month away and I can’t see any other reason for the massive increase in interest. I’m really curious – any ideas?