NBC News’s Health blog featured a long post on the new research that “turns off” the extra 21st Chromosome in Down syndrome. There are many things to learn from it.
JoNel Aleccia interviewed many individuals I’m lucky enough to know, like Jawanda Mast and her daughter Rachel, Brian Skotko, my fellow DSAIA board member David Egan (whose profile was featured on the News page), and Ed McCabe with the March of Dimes. Several items of note from Aleccia’s report:
- Did you know that the routinely cited statistic of there being 400,000 people in the United States with Down syndrome has been called into question by recent research suggesting the more accurate number is 250,000?
- Jeanne Lawrence, the researcher who led the team that turned off the 21st Chromosome, believed her work would lead to therapies for individuals with Down syndrome, but “We never thought for a moment we would aid in the eradication of it”
- Another quote of Dr. Lawrence’s informs the use of “silence” as a verb for what her research would do. Because Down syndrome occurs at conception, Dr. Lawrence’s view is that “Even looking forward really far, I don’t see how we could fundamentally change a person who has trisomy 21 to silence all the chromosomes in their body.”
- And, while Aleccia introduces the quote from Art Caplan as saying that “ethicists fear that genetic manipulation could spell the end of the disorder – and of people who have it,” Caplan’s quote does not suggest to me that he fears this at all–just the contrary. Caplan is quoted as saying:
We now see very few persons with the symptoms of polio or the scars of smallpox. … The same fate, despite the protests of some, awaits Down syndrome and other genetic diseases if engineering genes creates cures.
- This is the same Caplan who argued people should be able to sue if they did not vaccinate their child and that unvaccinated child spread the disease to another child–(a view shared by a commenter on this blog). And, the same Caplan who said there is positive news about living a life with Down syndrome, but that it won’t matter anyway since most will end up aborted. But given the revision down to only 250,000 people living with the condition, perhaps Caplan’s predictions may prove correct.
- Lastly, I don’t know if my friend David is a reader of this blog, but his view of the research allowing us to “understand more about” Down syndrome reflected the title of an earlier post.
Jawanda shares some of the behind-the-scenes of her interview and the photographs at her blog. As the saying goes in the blog world, read the whole thing, both the NBC News piece and Jawanda’s post.
Is Caplan right that Down syndrome can be likened to diseases like polio and smallpox and this research should be seen as a way to similarly eradicate Down syndrome like vaccinations did those diseases?
I though that this was a good article and goes some way to addressing the confusion between managing health issues that all people experience, and a “cure” that is based in a false premise that there is something inherently wrong that needs to be “fixed”.
I would like to see more discussion from our community and less from “medical experts”. Any discussion should be focused on improving health and not “curing”. The way this issue has been widely reported and discussed in blogs has reinforced negative false assumptions about the great lives of people with Down syndrome.
As usual, there is little thought given to human rights and much focus on the narrow area of health. It’s the old age issue of doctors trying to “fix disabilty”, rather than accept and respect it and focus on improving health outcomes for all people.