Tuesday Dec 15 2009 Stanford News

Does Down syndrome need a "cure"?

By Erin Digitale

The right drug regimen might ameliorate some of the cognitive problems of Down syndrome, making it easier for children with Down syndrome to learn and form new memories. That's the main finding of a recent mouse study by a team of Stanford researchers, described in a press release I wrote a few weeks ago.

The research is now generating some thought-provoking back-and-forth in the blogosphere. Canadian blogger Contrarian has twin grandsons with Down syndrome; as he describes in a series of blog entries, his daughter-in-law Jenn (the twins' mom) found the idea that people with Down syndrome need to be "fixed" quite distressing. She wrote:

In the end, for me, this all comes back to people. Josh, Jacob, Mary, Cathy, Kate, Janet…these people have Down Syndrome. These people are my family, my friends, my teachers. Without the benefit of that extra chromosome, they would not be who they are. Their intellectual “impairment” gives them an insight and an emotional intelligence and maturity that I can only aspire to.

At Contrarian's request, Ahmad Salehi, MD, PhD, the researcher who led the Stanford study, provided a response to Jenn's concerns. In part, he says:

The goal of our research is not to change the personality of a person with Down syndrome, but rather to help them lead more independent lives.

There are many aspects of people with Down syndrome that we should consider a blessing. Their positive interactions with others, their cheerfulness and affection, and their nonjudgmental attitude are just a few examples. The question whether all people with Down syndrome need some kind of treatment is entirely personal and completely depends on the individual situation. Nevertheless, not every child with Down syndrome is as lucky as Jenn’s children. There are many places in the world that may not look at Down syndrome the way that Jenn does. For these children, finding a way to even partially restore cognition or preventing further deterioration in their learning and memory would be extremely important and helpful in their very competitive societies.

Salehi's full post, which is well worth reading, is available here. His post is also linked to the blog's earlier discussions, which I found fascinating.

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Comments

Patricia Tice

December 15, 2009 7:12 PM

I too have a beautiful little one with Down syndrome, but I couldn't disagree more. Many parents genuinely fear losing the humble winning personalities traits that are so characteristic of those with DS. The interventions we have used to date have helped us better understand who Katie is as a unique human being without the impact of the extra chromosome. Her humble, sweet affection usually means she's either being insecure or wants to get away with something (not unlike a lot of pretty typical people).

More to the point, without the medical interventions that are being found, the set of joys and disappointments she experiences will always be different than everyone else and in ways that become increasingly pathological as she grows older. I want her to be the beauty pageant queen she is at heart, but I also want her to be able to recognize the shallow pettiness of many that compete. I want her to know the joy of a real boyfriend and the pain of a broken heart. I want her to go to college and dread finals. I want her to know the joy of a productive, fulfilling job and the frustration of looking forward to the weekend. I want her to live on her own and groan as the bills come in the mail. I want her to own her own home and figure out for herself how to fix the toilet when it breaks. I want her to marry and have children--with all of the joys and frustrations that come with both. It's not that those things won't happen to her as she is now. There is a chance for each of them, but the chance is very slim and if they happen, the experience will be qualitatively different as things stand now.

Ultimately, I want for her to be independent, with all of the joys and pain that go with that freedom. As we grow, we all come to the realization we need help for some things because we just aren't best at those things. I want her to be able to choose her dependencies rather than have them chosen for her.

Do I believe society is better off because people like her exist? Maybe--she and those like her are a constant reminder of the value of human life regardless of its productivity. Still, there will always be people that are helpless and vulnerable and we, as a society, intentionally buttress the weak, preferably from the inside. This is not a valid argument against medical intervention for DS. The question for me is, "What about Katie am I missing out because of this dis-order?" We won't know unless we try.

Sarah Wernikoff

December 16, 2009 8:58 PM

I also have a daughter with DS and I agree with the thoughts you share above.

In addition I'm hopeful the research will help prevent the early cognitive decline experienced by the majority of those with DS beginning around age 40. We have all worked incredibly hard with our children through early intervention, various therapies, special education support, etc. The possibility that our children will begin to lose what we have worked so hard to teach them at such a young age both scares and saddens me. As with my other children I want my daughter to live a rich and fulfilling life, and the current research gives me hope that it will be possible.

For those of you who want to know more about DS research you can go to DSRTF.org or follow DSRTF on Facebook. DSRTF, the Down Syndrome Research and Treatment Foundation, supports the current Stanford research and is the leading source non-governmental funding for DS research in the U.S.

Padhu Ramalingam

January 3, 2010 7:04 PM

I too have a sweet little boy with down syndrome.

It would surely be unwise if the mom wouldn't want her cute baby to grow out the crib, because it's so lovely as it is.

As we we learn about our children, we are better equipped to help them. I wish there are even more research and advancements to understand and hopefully rectify negative impacts of the extra chromosome.

I am very thankful for Ahmad Salehi and the Stanford team for their efforts.

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