Welcome to Illinois

The difference between treatment and cure

Posted in Scientific research, Therapeutic treatments by Matt at WelcometoIllinois on January 12, 2010

A few months ago I briefly mentioned some research underway at the Stanford University School of Medicine and Lucile Packard Children’s Hospital that could eventually lead to treatments that could improve cognition in people with Down’s syndrome, or at least delay the decline of cognitive function.

The research has hit the headlines this week thanks to a New York Times post questioning the need for a “cure” for Down’s syndrome.

The NYT post concludes by asking “if there were a cure for your child that would fundamentally change who he is, would you welcome it?” It’s an interesting theoretical question, but one that is unlikely to be raised by the research.

As Dr. Ahmad Salehi, M.D., Ph.D., the lead researcher on the Stanford University study, noted in response to a similar question, “restoring a rather limited aspect of learning and memory in a mouse model of Down syndrome is far from being a cure”.

It also only addresses cognitive function, which is one of many potential effects of Down’s syndrome. Others, such as heart defects and thyroid problems, are already treated by medical science, Why would you not also treat cognitive ability, were that possible?

I do understand, however, why some parents would be wary of a theoretical cure. I previously mentioned, twice, that while I am in favour of using drugs to improve life for people with Down’s syndrome, gene therapy (or praying to remove the effects of Down’s syndrome in the latter example) feels like quite a different proposition as it raises questions about fundamentally changing the personality of the recipient.

Recent news and views

Posted in Attitudes to disability, Learning disability, Screening, Therapeutic treatments by Matt at WelcometoIllinois on November 24, 2009

We’ve been really busty with various work, home, and illness-related issues recently. Here’s some recent news stories I haven’t had time to blog about:

  • Athletes with intellectual disabilities to compete in 2012 Paralympics – The Times
  • Great news. It’s about time intellectually disabled athletes stopped being punished for the crimes of the intellectually able but morally corrupt.

  • Mentally disabled actors are victims of modern ‘blacking-up’, says campaigner – The Guardian
  • An interesting perspective, and one that I have some sympathy for.

  • Drive to improve pregnancy scans for Down’s syndrome – Daily Mail
  • “Guidelines for scans that assess the risk of Down’s syndrome in later pregnancy are being drawn up in an attempt to improve their accuracy.” Good. See here and here for previous posts about the importance of accuracy.

  • Sarah Palin: my life with a Down’s syndrome child – The Times
  • An interesting read, whatever you might think about her.

  • Progress towards possible Down’s syndrome treatment – BUPA and numerous other sources
    “Medicines that target specific nerve cells in the brain could reverse poor mental function in people with Down’s syndrome, according to new research.”

  • How G survived the National Health Service death panels

    Posted in Attitudes to disability, Support services, Therapeutic treatments by Matt at WelcometoIllinois on August 8, 2009

    Sarah Palin has let loose on the topic of health care reform. In her latest Facebook outburst, as reported by Patricia E. Bauer among others, she stated:

    “The America I know and love is not one in which my parents or my baby with Down Syndrome will have to stand in front of Obama’s “death panel” so his bureaucrats can decide, based on a subjective judgment of their ‘level of productivity in society,’ whether they are worthy of health care. Such a system is downright evil.”

    Absolutely bonkers. I’m not going to bother pointing out the numerous factual inaccuracies in that statement. Fact Check points out that “nothing in the legislation would carry out such a bleak vision”, while PolitiFact rates the statement “Pants on Fire!”

    What I will do, as someone who lives in a country with government-supplied health care, is confirm that there are no death panels on the National Health Service – at least not that I am aware of. What we do have, however, is multiple health visitors, portage workers, speech and language therapists, and physical therapists, not to mention heart scans, hearing tests, and learning assessments, all supplied free of charge and regardless of our income. Had G needed it, he would also have been able to have an operation to fix any problems associated with his heart or any other organs, again free of charge regardless of our income.

    As a writer on Huliq news points out, “what Sarah Palin fails to note, or perhaps does but intentionally omits, is that such a ‘death panel’ of bureaucrats already exists. It’s called the insurance companies, and the employees at them which deny health care left and right.”

    The NHS isn’t perfect, but having read numerous accounts of parents hit with massive hospital bills for the delivery of their children and the massive cost of health care insurance for children with disabilities, given the choice between the UK and US systems I know what I’d pick.

    Research points to potential in utero treatment for Down’s syndrome

    Posted in Scientific research, Therapeutic treatments by Matt at WelcometoIllinois on June 3, 2009

    Researchers from Tufts Medical Center and Tufts University have published a paper that suggests it may be possible to develop prenatal therapies for Down’s syndrome.

    According to the press release, the research suggests that “amniotic fluid surrounding Down syndrome fetuses shows oxidative stress, a condition that could harm fetal cells and play a role in affected individuals”.

    The research prompted some surprising new findings:

    “The longstanding assumption has been that proteins produced by the additional copy of chromosome 21 were almost exclusively responsible for the atypical development and function associated with the syndrome. A surprising aspect of the findings was that the molecular abnormalities observed were predominantly produced by genes on the other chromosomes.”

    The release continues: “Researchers are examining amniotic cells to determine if they show similar genomic profiles to the cell-free material in the fluid. If that is the case, they will begin to look at the effectiveness of anti-oxidant compounds as potential treatment in vitro.”

    Of course, any potential treatment is years away, but this is an interesting development nonetheless. I previously covered the potential for in utero treatment here.

    Understanding of Down’s syndrome may aid breast cancer therapy

    Posted in Scientific research, Therapeutic treatments by Matt at WelcometoIllinois on January 9, 2009

    Here’s a pretty interesting theory on how the understanding of Down’s syndrome may help in the development of therapy for breast cancer sufferers.

    Apparently breast cancer is rare amongst women with Down’s syndrome, possibly because of the extra copy of chromosome 21, which is “where the gene that codes for the antiangiogenic protein Endostatin is located”.

    The theory is that treating people with Endostatin “a Down syndrome level” could be a therapy for early stage breast cancer that indefinitely prolongs remission and makes chemotherapy or hormone therapy unnecessary.

    From the perspective of attitudes towards Down’s syndrome the interesting thing about this is that it is only possible to put forward this theory now that women with Down’s syndrome are living to an age when it is most common (50 to 69 according to NetDoctor).

    A study conducted in 2000 indicated that while people with Down’s syndrome have an increased risk of leukemia, they have a lower incidence of many other forms of cancer, including breast cancer.

    Meanwhile a year ago a study at Johns Hopkins University School of Medicine indicated that a gene called Ets2 that sits on the 21st chromosome may, alongside endostatin, be key.

    “If there were no such thing as Down syndrome, we probably wouldn’t have found this because it wouldn’t make a lot of sense to take these oncogenes that we thought were genes that cause cancer and try to express them at high levels to try to prevent cancer. But that’s what happens,” said researcher Roger Reeves. “People with Down syndrome have now given us all the possibility of lowering the incidence of cancer in everybody.”

    A quick Q&A on stem cell research

    Posted in Scientific research, Therapeutic treatments by Matt at WelcometoIllinois on December 16, 2008

    Stem cell research is a pretty controversial issue for some people. It’s not something I’ve spent too much time thinking about but as I have previously reported, it could potentially lead to improved understanding of, and treatment for, the effects of Down’s syndrome.

    It is in that context that I think this Q&A in the New York Times is worth a read. It is an interview with Renee A. Reijo Pera, director of Stanford’s Center for Human Embryonic Stem Cell Research and Education.

    While it is focused on the use of stem cells for fertility treatment it also helped me to understand some of the basic issues related to stem cell research.

    Ozone as treatment for immunological problems

    Posted in Scientific research, Therapeutic treatments by Matt at WelcometoIllinois on December 3, 2008

    We found our this morning that our little boy has a chest infection and is being put on antibiotics again, which is something we would like to keep to a minimum.

    He is pretty strong and healthy but does seem to suffer from colds more than his brother, so it’s not a major worry but is a reminder that Down’s syndrome often comes with immunological problems.

    Which brings me to this story about research underway in Cuba to trial using ozone as a therapy for blood, nutrition and hormone problems, as well as issue with the immune system.

    According to the report the study will be run at the Sancti Spiritus’s pediatric hospital with the cooperation of Havana’s Ozone Investigation Center and the first phase will see researchers try to determine the blood biochemical disorders of 30 children with Down’s syndrome which makes them vulnerable to different diseases.

    This will lead to clinical trial of ozone as an anti-oxidative agent to improve the immune system.

    In utero treatment for Down’s syndrome?

    Posted in Scientific research, Screening, Therapeutic treatments by Matt at WelcometoIllinois on November 26, 2008

    New Scientist is among a number of news sources reporting that it may one day be possible to treat the symptoms of Down’s syndrome before a child in born via a protein injection.

    The report indicates that injecting proteins could make up for malfunctions in glial cells and protect neurons that would otherwise be impacted by Down’s syndrome. According to the report:

    “Catherine Spong and colleagues at the National Institutes of Health in Bethesda, Maryland, injected NAP and SAL into mice pregnant with trisomic pups in the middle of their pregnancy. When the pups were born, they reached developmental milestones such as grasping a rod, righting themselves and responding to tactile stimulation at the same time as normal mice.”

    There are no guarantees that the treatment would have the same effect on humans, of course, but it does raise an interesting scenario where screening tests can also be used to enable treatment, rather than termination.

    See also NHS Behind the Headlines’ take on this story: “It is unclear whether the improvements seen in mice would be seen in humans, and whether such improvements would significantly alter the impact of Down’s syndrome on the individual.”

    The use of Ginkgo, Prozac and Focalin as a “treatment” for Down syndrome

    Posted in Charities, Learning disability, Scientific research, Therapeutic treatments by Matt at WelcometoIllinois on November 1, 2008

    A statement from Down Syndrome Education International (and others):

    A combination of drugs recommended for depression and attention deficit and hyperactivity disorder is being widely promoted as a “treatment” for Down syndrome. There is no scientific support for the routine use of this protocol by people who have Down syndrome. It is important that families and healthcare professionals are aware of the lack of evidence for safety and benefits from use of this protocol.

    The full details add:

    An organization called the Changing Minds Foundation is promoting a “new treatment for Down syndrome” that leads to “life changing” results. The “treatment” includes regular doses of Fluoxetine (Prozac), Dexmethylphenidate (Focalin XR) and Ginkgo biloba, Phosphatidylcholine, ‘Body Bio Balanced Oil’ and folinic acid. Some of these substances are associated with potential harmful side-effects…

    There is no scientific evidence to support the use of any of this protocol with people with Down syndrome of any age in order to improve memory or any other aspect of cognition. Nor is there any evidence that this protocol is safe for routine use with people who have Down syndrome…

    Scientific research has improved our understanding of Down syndrome considerably over the past 30 years. This has led to the better healthcare and education received by many people with Down syndrome today. Many scientists and organizations continue to work to improve our knowledge and understanding of effective ways to improve quality of life for people who live with Down syndrome.

    Although the pace of further progress is often slow and this can be frustrating, only careful research and rigorous controlled trials can provide the evidence necessary to demonstrate that a therapy is useful and safe.

    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.