Before we silence Down syndrome, shouldn’t we try to understand it better?

disappearingReactions to the news of the researchers “turning off” the extra 21st Chromosome that is the genetic cause of Down syndrome continue to be shared. Yesterday brought the most concise explanation of the actual research and a question that has not yet been raised about it.

The Lejeune Foundation has as its mission to support research for the treatment of Down syndrome. It helpfully shared how the researchers “turned off” the extra chromosome:

Dr. Lawrence’s team used a virus to deliver a gene (XIST) that normally silences the second X chromosome in females into a specific junction on the extra 21st chromosome of the cells. The result was that the third chromosome 21 was silenced.

To perhaps further explain: women have two X chromosomes and the gene XIST silences the “extra” X chromosome. So, the researchers took this “silencing” gene and inserted it into the extra 21st chromosome to turn it off. By doing this, then, the extra chromosome would not be expressed and, theoretically, it would not impact development.

As the Lejeune Foundation is keen to point out, the development so far is not a “cure” for Down syndrome. But, it does promise future treatments. The line from the article that leapt off the page at me was that such treatments could happen as soon as 10 years.

On the same day, fellow parents of children with Down syndrome commented on their own blogs about the new development of silencing the 21st Chromosome.

In her post, Meriah Nichols, at her blog With A Little Moxie, raised a question I had not seen, yet, in the reactions to the new research:

… I am really interested in the extra chromosome in and of itself: what does it do exactly? It’s a pretty interesting chromosome. Shouldn’t we find out more about it before we just go trying to shutting it off?

As a complement to Meriah’s question, George Estreich (whose excellent book I reviewed here) offered his thoughts on the new research. Estreich, as he typically does, better expressed the self-replicating cycle I discussed at this post on how prenatal testing feeds off of the absence of context and facilitates that same absence:

Misunderstanding and fear can fuel the demand for prenatal tests, which can in turn decrease the population; the resulting absence of contact can, in turn, drive further misunderstanding.

Regarding the new research, and this misunderstanding and fear, Estreich wondered:

Before we cure a condition, before we erase it, we should ask if we have seen it clearly.

And, finally, Amy Julia Becker (whose book on prenatal testing I covered here), shared her understanding of Down syndrome, which will likely not be widely shared if the absence of contact persists through decisions following prenatal testing and if a cure can be implemented prenatally:

I have a sense that there is something positive about having Down syndrome. Something beautiful and good and true. Something that increases joy.

In her usual fashion, Becker bookends that appreciation by fairly recognizing the challenges that Down syndrome comes with, but even with those challenges, still holds the view that Down syndrome has a role to play and one that may be a positive one in our world.

As in the earlier post, I share these thoughts by others who are reflecting on the possibility of a cure for Down syndrome because it helps shape my thinking on the matter. I hope it does the same for you.

Do you agree that before we seek a cure we should first understand what is being cured?


  1. Maybe more a case of “is there anything to cure”. There is a false assumption that something is wrong, when in fact, as far as I can tell, there is much that is great that could be lost.

  2. Maureen T says:

    I am a mother of a son with Down Syndrome and Autism. To me -the autism is by far the harder part. Of course I would be interested in seeing if this could help some of the medical issues that our children deal with..but as far as eradicating the “extra” 21st chromosome..nope ,..would not want to do that.
    I agree! People with Down Syndrome DO add something special to this world.I have always felt there must be some reason why this genetic “difference” does not generally cause the pregnancy to end whereas many others do. Also-to change my son’sgenetic makeup-would essentially change the person who he is. My son is “lower-functioning”(Hate that term-but not sure else to describe it here)-he is non-verbal..and will not be able to live independently. Some people will take that as meaning a life worth not living..and that is so far from the truth! He brings light and love into the lives of everyone he meets. He makes me smile everyday.and he has taught meand so many others about the true meaning of unconditional love, what is important in life..and he makes me look at the world in a whole different light. He has made me such a better and more giving person. If that is not a worthwhile life-then I don’t know what is.

    • Dr Skotko’s survey of families showed the same thing: no matter the functionality, parents overwhelmingly loved their children w/Down syndrome.

  3. Yes we should be discussing a cure. Because, as all these insightful questions indicate, the discussion can lead to considering the implications of a cure.

    As a care taker I have confidence in helping to make the right choice for whatever may be offered. What I do get squeamish about is losing the essence of who Mae is. That would be part of the decision making process for all parents, no doubt.

  4. I hate to be the party pooper but Down syndrome is not that great. The syndrome brings along with it mental retardation, hole in the heart, reversed aorta and ventricle vessels, duodenal atresia on a lesser note, speech therapy, OT, PT, ear tubes, glasses etc. Now you are started to live the life of a person with DS. (and the only reason I said “person with DS” is because peer pressure has made me.) I am so sorry you do not like that medicine calls you by your disease ( oh wait I can’t say disease because people don’t know the meaning of the word and are offended) Disease literally means ‘away from health’. I think if you have a list of symptoms as listed above you do have a disease. I have psoriasis. Do you dislike me because I have a disease? I bet you have at least 1 disease.
    Anyway, the notion that we would not cure an ailment or disease before we understood it completely or even understood it more is silly. Do you understand your cancer completely. Oh wait cancer is a disease and DS is not.
    If I could turn off the extra chromosome, I would do it in a heart beat. What if my son’s true personality is being hidden by the extra chromosome? Everyone in my life accepts and loves my son, if they don’t they are not in our world. But I would love to give him freedom from all the problems with DS including Alzheimer’s Disease. Have you even thought about that ….100% of the brains they autopsy with DS after 40 years old have Alzheimer’s Disease. OK I don’t know about you but 40 is not very old.
    Teresa Cody

    • Oh, this is an interesting response. Very much a medical model of Down syndrome. My daughter is perfectly healthy thank you very much and has a great life, so please don’t label your negativity on the rest of us.

      People with Down syndrome may experience the same range of health issues as anyone else, but the syndrome is not a disease. If they have a heart issue, they have a heart issue, like anyone else with a heart issue has a heart issue. That may mean that they are “away from health” and that is because they have a heart issue, not because they have Down syndrome.

      If we want to be Pendatic, remember that they hardly ever develope cancer, which affects a significant portion of the rest of the population.

      There are many very positive attributes our children bring into this world, many remain pure of heart and have no malice – attributes many other people could learn from and are much needed in the times that we live in. People should want to have such people in their families.

      • Maureen T says:

        Well said!

      • Mike , remember Theresa’s statements are based on her situation and fact. It is very difficult if your child has serious health issues. I know the love and joy is wonderful too but don’t all your children bring that to your life?

        • Exactly. They are health issues that all of the population experience, they are not specific to Down syndrome. For example, 94% of babies born with a heart defect don’t have Down syndrome. A heart defect is something that can be appropriate to cure, but Down syndrome in itself is fine in my view. It is a societal view that there is something wrong to be fixed.

    • So why not push for a cure for Alzheimer’s which affects so many people, not just those with Down syndrome. Your list of all those medical issues rarely happens to every single person with Down syndrome…my son is overall very healthy as well. Sure he will need glasses some day–but wow–I wear glasses, too! I didn’t realize that was such a traumatic thing. You are free to think/believe what you want but your bad attitude is disheartening to say the least.

      • Hardly a bad attitude Crystal, she is stating fact. Wouldn’t you like your child to be less unwell and have a better chance of learning and not being dependent on you as an adult? – mother of Down syndrome child

        • My daughter is healthier than many of her non-Downs peers. She has more empathy than her peers as example. Contemporary learning, well that is a small part of what it means to be human. In many cultures it is the norm for families to support each through life, so dependency is not a big deal, whether its a baby, child, adult of elderly person.

  5. Allison G. says:

    I agree with the majority here. People with DS have a light inside them that other people do not posses. An innocence. A warm and compassionate love. My mother would describe it as a forever child. That is what she called my brother. Her forever child. My brother died at a young age due to Alzheimer’s.
    I remember when an acquaintance at work tried to comfort me after his death. They said something like”he’s in a better place now, he’s healed of his disability.” I remember feeling totally taken back. I didn’t want him to be “healed” of DS. That’s who he was. I kept thinking, he wouldn’t be HIM without DS. He wouldn’t be the person I loved so dearly and enriched my world so profoundly.
    He had an aortic valve replacement, suffered complications and then ultimately died of Alzheimer’s complications. He also lived an incredible life. He went on vacations, was the life of the party and loved him family unconditionally and whole heartedly.
    Lets focus on the solving the complications associated with DS and not eradicating a population of people who make this world a better place.

  6. I don’t know, maybe I give my son more credit than the next guy, which is of course my parental prerogative, but I do not think Down syndrome has made him who he is. I believe his love and passion for drama, his great sense of humor and his empathy come from all of him, not just one chromosome.

    I wish he did not have to face the medical challenges that frequent those with DS. And I would not say no to the chance for him to be better understood and have more opportunities. But, I would never hope for these things if it meant losing him. It’s a slippery slope, friends.

    That said, overall I agree with the premise that “we” have so little understanding of why the trisomy of the 21st chromosome increases the likelihood of physical and developmental disabilities as well as why the trisomy lessens the likelihood of other serious concerns, like high blood pressure and stroke. So yes please, scientists and medical researches of the world, Please do not jump to “flip the switch” when there is so much at stake.

  7. While I certainly identify with the fierce devotion of all the parents here, I can’t pretend that DS is not a serious medical condition. My daughter is a joy and she will live a fulfilling and meaningful life as she is.

    That said, there ARE many serious medical problems directly related to DS. My daughter was born with Transitory Leukemia, ONLY infants with DS have this. It has resolved, but a high risk remains. I personally know 3 families whose children have died due to conditions related to their DS. If your child with DS is healthy, you are blessed.

    Finding out how DS affects the body and using that knowledge to treat problems more effectively will lead to longer, healthier and better lives for people with DS. Let’s not be so defensive that we can’t see how wonderful that is!

    • I wonder, though, if turning off the entire chromosome is using a hammer when a scalpel–identifying the particular gene(s) on the chromosome–is called for. I also wonder if turning off the entire chromosome actually becomes a reality how much interest will be in identifying the individual genes that are cause.

      • I think there is the misconception that this research is aiming to eliminate DS in every cell of the body. The head researcher Dr Lawrence has said repeatedly that this would be virtually impossible, “highly implausible” are her words. To be able to tailor drug treatments to treat specific problems which are caused or exacerbated by the extra chromosome is the goal (i.e: early onset dementia, leukemia…). To make this happen they will have to research and understand the why and how of DS as it effects a particular system. No one is proposing a wholesale genetic transplant or retooling, but treating specific problems more effectively.

        I think it’s reasonable to be cautious about gene therapy and its application, but we shouldn’t throw the baby out with the bath water.


  1. […] 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. […]

  2. […] into the mice’s brains called “sonic hedgehog.” These developments stirred a reflection on what Down syndrome is: a disease to be cured or a part of the genetic diversity that makes up […]

  3. […] The report concludes by positing that the hESCs may have “induced normal neurogenesis in the brain” and that “it could be hypothesized that in our case hESCs might have activated XIST gene, helping in silencing the extra 21 chromosome.” (More on theoretical XIST treatment at this post). […]

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