Is Down Syndrome Becoming an “Orphan” Condition?

Chris Kaposy discusses the future of Down syndrome research in Canada

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On World Down Syndrome Day 2013 (March 21), I had the pleasure of taking part in a Café Scientifique in Halifax hosted by Tim Krahn, my colleague at Novel Tech Ethics.

The topic of the Café was “The Future of Down Syndrome Research”. I was on the panel as an ethicist and father of a child with DS. My fellow panelists were: Dr. Deborah Norris of Mount St. Vincent University who does qualitative research on the lives and experiences of people living with cognitive disabilities, and Dr. Mandy Raining-Bird of Dalhousie University, who does research into bilingualism among people with DS.

Before the event, Tim was nice enough to provide me with statistics on the projects funded by the Canadian Institutes of Health Research (CIHR) that relate to DS. (The Café itself was a CIHR-funded initiative). Looking at the list of all the projects funded by CIHR, I noticed that projects devoted to prenatal diagnosis of DS were given about $1.4 million over the past 10 years or so. In comparison, projects that focused on ways to improve the health of people living with DS were given about half of that amount – $700,000 over about 10 years. Of this $700,000, a large proportion was given to researchers on a couple of grants studying the dental health of children with DS, which I think is pretty useful research since I worry about my son’s teeth.

downs2The point I wanted to make about these funding statistics was that the research community in Canada seems to be more interested in trying to detect and prevent DS prior to birth, rather than trying to improve the health of people with DS. There are a number of caveats that should make one cautious about this claim, however. One major caveat is that comparing $1.4 million to $700,000 over 10 years is like comparing one miniscule slice of a huge pie against a slightly bigger though still miniscule slice. Over that period of time, the total amount of DS research counts for less than 1% of the whole CIHR research budget.

During the discussion period some of the participants raised issues about DS research that I think are much more important – issues that reflect on the larger context of how DS is understood and dealt with in our society. Many of the people in the audience were members of the Nova Scotia Down Syndrome Society. It was a very lively and passionate audience, which is something that you might not expect for an event whose purpose is to discuss scientific research. One audience member noted that, for research, you need numbers. Typically, you need large groups of people for most types of clinical research. She pointed out that fewer children with DS are being born these days. Another participant, a mother of a child with DS, said, “our children, many of their friends are not here, they were never born”.

The research into selective abortion rates when a fetus is diagnosed with DS supports this conclusion. A systematic review in the late 1990s showed that the selective abortion rate for DS was around 90%. The 90% figure has been cited by many authors, researchers, and bloggers. More recently, a systematic review of American studies shows that the selective termination rate for DS in the US is more like 67%. Nonetheless, the point still can be made: a majority of prospective parents faced with a prenatal diagnosis of DS will terminate the pregnancy. The selective abortion rate, or the overall number of selective abortions, are likely to rise with the availability of first trimester diagnostic maternal blood tests for DS. This new prenatal test, which pregnant women in the US can access, gives an accurate determination early in pregnancy about whether the fetus has DS, and the test may eliminate the need for amniocentesis (which carries a risk of miscarriage).

I would never support any limits on access to abortion. The solution has to be that we change how our society thinks about disability, so that fewer prospective parents choose selective abortion. The statement that many of the children with Down syndrome were never born made an impression on me. It brought to mind a comment made by a parent in my own DS group. She said that when your kids are young, all the kids are friends, disabled or not. But when your kids get older, the nondisabled kids drift away, and your child with DS is left with only his or her friends who also have DS. The comment saddens me, and I hope it doesn’t turn out to be true. Fortunately, in our case, my son (who is 4 years old) has a group of friends his age who also have DS. But the absence of a social network for a person with DS can worsen a disability that can already be socially isolating.

During the Café, several participants expressed a need for health research into leukemia among children with DS, into early-onset dementia for adults with DS, and for social anthropology research on the ways that groups of people with DS interact. A member of the Nova Scotia Down Syndrome Society argued that rather than trying to make people with DS act like us nondisabled people, we should try to be like them, because, in her experience, groups of people with DS are comparatively more joyful, friendly, and exciting. (See the website for Team Possibles at the NSDSS). But without the “numbers”, useful research like this may be in peril.

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Chris Kaposy, Assistant Professor of Health Care Ethics, Faculty of Medicine, Memorial University of Newfoundland.

2 comments

  1. It needs to be emphasized that A) 1% (one percent) of research funding over the past 10 yrs went to DS–would be interesting to know comparisons per capita for different conditions just like they did in the States to expose funding disparities and to address them; B) research to improve lives of those living with DS received HALF of the amount given to the prenatal diagnosis–is this a form of genetic cleansing? Then who’s next: those who carry AD gene, incurable onco genes,…? Why is Down syndrome selected for eradication if the existing research points to different functional levels and capacity to contribute to society meaningfully–no more and no less than other diagnosis groups, not excluding general population capable of killing or other forms of harm?

  2. Thank you for raising this important issue. In the States, financial disparities surrounding Down syndrome have been exposed and are being addressed by partnerships of families, researchers and governmental funding agencies. It’s high time to address those in Canada that is famous for its diversity and inclusion. The small numbers issue is a barrier that can be addressed through creative recruitment strategies and multi-center approaches, both of which are used and applied to other medical conditions. Down syndrome should be no exception. Where is a will to do research and INCLUDE this group in research advances, there is a way. It takes changing researchers’ and funders’ mindsets and possibly some underlying biases…

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