“If we don’t cure them of their innocence, there will be another massacre of the innocents.”

-Dr. Jerome Lejeune

In July 2013, headlines began to proclaim that a cure for Down syndrome had been discovered. Dr. Jeanne Lawrence at the University of Massachusetts, Worcester had discovered a way to completely silence the extra 21st chromosome in an induced pluripotent stem cell line¹ generated from an individual with Down syndrome. Dr. Lawrence made clear that her discovery was in no way a “cure,” but the headlines that followed the publication of her research incited some lively exchange among advocates regarding what a “cure” might mean for the Down syndrome community.

When we published our very first newsletter after opening the U.S. office of the Jerome Lejeune Foundation, we used a well-known phrase of Jerome Lejeune as our headline: “The only way to save them is to cure them.” It was not long until we received a phone call from the director of a Down syndrome advocacy organization wanting to know what we meant by that phrase. He said that if the goal of the Jerome Lejeune Foundation was to “cure” Down syndrome, then we would not have their support. He said that self-advocates (Down syndrome advocates who themselves have Down syndrome) were happy with their lives and did not believe there was anything that needed “curing.”

While some people living with Down syndrome share this view, it is not the opinion of everyone. In the documentary film Crash Reel about the life of Olympic half-pipe legend, Kevin Pearce, Kevin’s brother, David, who has Down syndrome, is asked about his disability. He very powerfully says on camera:

I don’t like it. I hate it. I want my disability to go away and not come back. I know that I have it. It’s really hard to have it. Sometimes I feel stressed out about it and sometimes I feel anxiety about it too. I go to my room and hang out there and cry sometimes, and then I perk up, come downstairs and move on to a different day. (view the interview here)

David Pearce is not alone in regretting that he has to live with Down syndrome, but often the voices of those who long for treatments that would improve their cognitive capacity are lost among the voices of advocates working to further acceptance and inclusion. Some parents and other advocates deny that Down syndrome is a genetic anomaly and insist it is a natural part of human variation. Some reject the efforts of research to improve cognition, claiming that it is a form of “positive eugenics.” ² Others fear that a drug to improve their child’s cognition will change their child’s personality that they have come to love deeply.

The reasons why we might want to “cure” Down syndrome:

When the debates were active around what a cure would mean to the Down syndrome community, we spoke out in support of research with what we believe are three very good reasons of why we might want to “cure” Down syndrome. Those reasons were these:

1. Down syndrome is a neurodegenerative disorder. The metabolic imbalance caused by living with an entire extra copy of a chromosome is devastating over time. The beauty and simplicity we appreciate in children with Down syndrome gives way to more rapid aging than is experienced in the typical population, and often includes severe withdrawal, cognitive decline, and early dementia. Researchers are addressing this metabolic imbalance and are beginning to identify potential solutions to these problems.

2. The majority of women who receive a prenatal diagnosis of Down syndrome choose to terminate their pregnancy. Roughly 67% who choose to abort a child with Down syndrome in the U.S. are aborting an otherwise wanted child solely because of the result of a prenatal diagnosis, and because they fear what the future may bring. Researchers are working to identify prenatal therapies that have been shown to practically “normalize” the birth and early development of mouse pups that have been genetically designed to mimic Down syndrome. We may soon be able to offer the same treatment to humans, bringing to an end that agonizing decision so many fear.

3. Those living with Down syndrome are people too. Perhaps most importantly, we cannot forget the humanity of people living with Down syndrome.

They have the same hopes and dreams, the desire for autonomy, clear expression of their feelings and ideas, love, and companionship as everyone else. They deserve to be able to participate as fully as possible in their communities. Researchers believe that even the early round of therapies currently in, or approaching clinical trial, might improve cognition by 15-20%. In a population that is identified as having mild to moderate intellectual disability, that boost could make a HUGE difference in their quality of life.

Those living with Down syndrome are remarkable people who bring so many positive qualities to the lives of those who know them. While research to identify treatments to improve cognition may not be for everyone, there are many like David Pearce out there who long for the day when research will provide access to meaningful work, independence, better health, intimate relationships that do not depend on family for support, and a future that does not include the strong possibility of dementia or other complex neurological conditions.

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¹ Induced pluripotent stem cells (iPSC) are stem cells that are developed from an individual's skin cells. Like embryonic stem cells they are "pluripotent," i.e., they can be coaxed into becoming different kids of cells like neurons for researchers to study. Unlike embryonic stem cells, their development does not require the destruction of a human embryo, so there are no ethical problems associated with the development and use of these cells.

² Positive eugenics is defined as a social philosophy that advocates for the improvement of human genetic traits by promoting higher reproduction among people who have desirable traits. In cognition research a distinction must be made between treatment of a disability, and enhancement of those with typical cognitive abilities. Cognition research in Down syndrome is not positive eugentics anymore than any effort to eliminate disease or disability would be.