Reversing Down syndrome & the Golden Rule

reverseResearchers at Johns Hopkins have reversed the effects on the brain in mice engineered with half the genes found in Down syndrome by injecting a compound into the brains of newborn mice. So, in the span of a few months, researchers have “turned off” Down syndrome, and now its effects have been reversed.  

Summarizing the news report:

The researchers injected into the brains of newborn mice a molecule of sonic hedgehog pathway agonist to boost the growth of a gene called SHH, a gene critical to brain development. Untreated, brains with Down syndrome typically have a cerebellum 60% of normal size; the one injection normalized the cerebellum’s growth through adulthood. The researchers also found that the treated mice benefited in learning and memory, being able to navigate water mazes as well as typical mice. However, the researchers caution that translating this treatment into humans with Down syndrome could trigger cancer.

Already, this news has been reported widely and seen as a very good thing: yet another potential treatment for overcoming the intellectual disability associated with Down syndrome. But, the news made me think of a lesson I learned when we tried treatment for our own daughter.

The Principle of Universality

When our daughter was a newborn, I latched onto the logic that since Down syndrome is caused by an extra 21st Chromosomes, and chromosomes contain genes which affect how the body develops and operates, couldn’t the extra expression of genetic material either be counterbalanced or neutralized? Then we went for our one-year-old appointment with our local geneticist, who almost off-handedly said, “I’m sure you’ve heard about TNI.” We hadn’t.

TNI stands for Targeted Nutritional Intervention. It is a protocol of mega-dosages of vitamins and natural products that the marketing promises helps overcome the effects of Down syndrome by using the logic of balancing out the over-expression of the 21st Chromosome. The dosages are heavy with anti-oxidants to reduce oxidative stress found in the cells of those with Down syndrome, as well as immune system building vitamins.

TNI is controversial. Neither national Down syndrome organization supported it as useful for individuals with Down syndrome due to a lack of medical studies. Further, part of the TNI protocol includes treating your child with pharmaceuticals. I can no longer recall the specific drugs, but there are reports on anti-depressants and anti-seizure medicine possibly improving cognition in individuals with Down syndrome. We ultimately chose just the vitamin supplements of TNI after our nutritionist checked out the dosages and decided that, at worst, it would do no harm beyond just costing us money.

When I shared our decision with a good friend of mine who also has a daughter with Down syndrome, he asked me a very salient question:

What mega-vitamins are you taking to overcome your deficiencies?

His point being, I was somewhat using my daughter as a medical guinea pig on the theory that mega-vitamin dosages would make her smarter. Why wasn’t I, then, taking drugs to improve my cognition?

College students are using ADHD medicine to reportedly improve their concentration. Rock bands and writers have said mind-altering drugs helped them create their art. And, athletes are taking all sorts of performance enhancing products to improve their physical functioning. I’m not taking any of that. I’m even choosing to be bald despite all sorts of products that promise to recapture my youth and virility by growing/transplanting/plugging a new head of hair. Yet, I was willing to subject my daughter to enhancement treatment. (Ultimately, we stopped after about a year mainly because my daughter couldn’t stand the vitamin-y taste).

My only point for mentioning TNI is that I’m reminded of my friend’s question when I hear of treatments for Down syndrome like the recent “sonic hedgehog” injection and how Down syndrome was “turned off.” It is not meant to equate the work of the researchers with TNI–and it is definitely not so I get a bunch of comments and e-mails telling me why TNI is a good thing (some of those who subscribe to TNI can be zealous advocates). It is simply to have us consider the principle of the golden rule–in ethics called the “universality” principle–when considering these potential treatments for Down syndrome.

When it comes to considering these treatments: if it’s so good, would you do it to yourself?

Trackbacks

  1. […] week, researchers reported reversing the effects of Down syndrome in the brains of genetically-engineered mice with a single injection. […]

  2. […] up on the news about the research that reversed Down syndrome-genes in genetically-engineered mice with a single […]

  3. […] written at other posts on other possible treatments, the main missing link in the medical logic of prenatal testing for […]

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