What do we Lose if we “Cure” Down Syndrome?

Yesterday morning I heard something that really made my blood boil for the first time since Wade was born. I got into the car to hear a local celebrity scientist on the radio discussing an item from the day’s news. Recent research has developed a technique for potentially shutting down the extra chromosome in the cells of a person with Down syndrome. The short term implication is the potential to develop new gene therapies to treat some of the health issues more commonly associated with DS such as hypothyroidism, leukaemia and early onset Alzheimer’s. The wider implication is that this technique may be used to ultimately turn off DS in the embryonic stage effectively “curing” it.

It wasn’t this in itself that made me angry, it was the description this scientist gave of Down syndrome. She called it a “devastating” condition. There was joy in her voice as she described how this discovery had the potential to eradicate DS all together. And I thought to myself…this is my son they are talking about here. Maybe I’m just an over protective mother ready to leap to the defence of my child (well, I was when I fired off my aggrieved text message into the station!!) but it also had me thinking about what is really at stake here.

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Recently I have been thinking about the implications of the new prenatal blood test for Down syndrome. MaterniT21 or Harmony are two of the brand names. This test takes a sample of blood from the pregnant mother which also carries some of the fetal DNA in it and can determine with 99% accuracy whether the baby has DS as well as Edward’s syndrome (T18) and Patau syndrome (T13) as early as 10weeks.

In Australia, 95% of all positive diagnoses for DS from an amniocentesis results in a termination of the pregnancy. A shocking statistic but a couple of points about this are worth noting. First of all, the amnio is an invasive procedure which can be painful and has a small risk of miscarriage so it is reasonable to assume that a lot of women who choose to have the amnio are considering termination in the event of a chromosomal abnormality anyway. This could explain the high percentage of terminations. Myself for example, decided early that I wouldn’t terminate if the baby had DS so therefore the amnio was an invasive risk I wasn’t prepared to take, so I refused it. Another reason for me to refuse the amnio was that you have to wait until the baby is around 15-18 weeks old. By that stage, I had connected with the baby and it felt a part of me. I would have struggled to terminate at this stage. The MaterniT21 test however can be done as early as 10 weeks and therefore the idea of termination at this earlier stage is more of an option for some women. Basically, this non invasive, highly accurate test, early in the pregnancy is going to result in less babies born with DS due to more women choosing termination. Fact. This article also makes some great points.

This combined with the future potential to apply gene therapy to the embryo as an option for women who would never choose an abortion and it is a very real possibility that DS could become a thing of the past….and this brought up some really strong emotions for me.

I am all for medical advancement that will cure illness but DS is not an illness. I am hopeful that this latest discovery may help design targeted, specific therapies for some of the more serious health issues that can come with DS however, most discussion in the mainstream media talks about how we will cure these problems by “curing” DS. It really bothers me because curing DS fundamentally changes every aspect of our kids. They will no longer be the people that they are.

If you had asked me when I was pregnant whether I would choose DS for my son, I would have told you you were crazy. But ask me now if I would remove the DS out of my son…. I can’t answer it. It’s a part of who he is. He’s not suffering, he’s not in pain, he’s not living a valueless life. It is as much a part of him as his blonde hair and blue eyes.

He will have his challenges and hurdles to overcome but who doesn’t? Not all of us are going to excel at school or have stellar careers or make a gazillion dollars. Some of us are going to need some help and assistance in our life too. Some of us are going to find our strengths and value in quieter, simpler things. Some of us are going to be surprised by how differently our lives turned out from what we were expecting but realise that what we have is so much better than what we wanted. All of us make the most of our lives within the limits in which we live them. How are we going to draw the line in the sand and say that this whole type of person is not worthy?

Wade doesn’t have any of the health issues that “curing” DS is supposed to cure. He will have an Intellectual Disability but we are learning so much everyday about how the brain works that it may get easier and easier for him in the future to learn new skills and ways of communicating. But also, he is funny. So funny. Even at 18 months this kid has a sense of humour that is second to none. Every morning when I wake up, there is this little face peering down onto mine with the cheekiest grin all over it. He starts trying to make me laugh before I’ve even opened my eyes. He will make this little noise in the back of his throat because he thinks it is hilarious. Then he gets the giggles. Then I smile, so he will do it again. Anything to make me laugh. Once he has started laughing, it doesn’t matter what I do or say, he will cackle uncontrollably at whatever I said. This can go on for half an hour if my cheeks will allow it.

Then sometimes he will have a 10 minute conversation with himself, in his own language, using the most serious facial expressions and wildest hand gestures. He looks like an evangelical preacher or an Italian politician giving a speech. I love it because he has so much expression and personality.

There are times when he will sit in front of his dad while he plays the guitar and rock from side to side while playing an imaginary drum, or he will crab-crawl over to the piano and reach up over his head to play the notes. Then I will pick him up and sit him on my lap as he gently taps the keys with his finger, after which he will grab the sleeves of my shirt and use my hands to bang really loud, up and down the board. When he really wants to cut loose on it, he will use his feet and lie back on my belly dancing his feet back and forth.

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Best of all, are the times when he wordlessly looks into my eyes and touches my face and tells me how much we belong together…. and I have no idea how much of this amazing personality is because of DS or not but I’m damn sure that he just wouldn’t be him if the extra chromosome was turned off.

I just wish that DS could be separated from its medical consequences in the eyes of the mainstream media. The life expectancy and quality of life for people with DS has improved dramatically in the last 30 years due to closure of institutions and improvements in health care and early childhood intervention principles. Thirty years ago people were not expected to live beyond their mid thirties let alone, go to school, get a job, fall in love and get married or make a meaningful contribution to society. Now, people with DS can expect to achieve a lot of these things as well as live well into their sixties with a much improved quality of life. Imagine what can be achieved in the next 30 years if our kids are given the chance. At the risk of using generalisations, I have noticed from spending time with people who have DS that there is something else. Something special. A lightness, a peace, a happiness. A distinct lack of bullshit. A comfort in their own skin. A simple honest existence. I know this is not true across the board and I’m sure there plenty of people with DS who are complete arseholes too but the point I am trying to make is this….

In our rush to “cure” all of the perceived “devastating” consequences of DS, are we unwittingly going to “cure” all the beauty too?

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52 thoughts on “What do we Lose if we “Cure” Down Syndrome?

  1. Lol. Yes, I think there are some asses, but such is the human existence, so beautifully varied. πŸ˜‰ I am horrified by the language surrounding Ds that comes along with this discussion, and am equally anxious that this is not at all about treating illness, but preventing difference. Sigh.

    • I guess I’m still hopeful enough to believe that preventing difference is not the main goal but I fear it will be overlooked as an uniintended consequence.

      • Yes, that is how I feel. Even if the scientists are working with the purest of hearts, looking at how this research has been received and discussed makes me very nervous. I’m not anti-science, however, and the technology is inevitable, so what can we do but keep talking about it and advocating for our kids, you know?

  2. Wow! Another amazing post! Sooo bloody damn well written…and I couldn’t agree more! Spot on with all your points/opinions! Love ya and your little man! Xxxxx

  3. Hi Leticia! Thanks for the blog – this is really the fraught stuff isn’t it. I have to say that I’m glad that people are using science to try to improve the functioning of people with Ds and not just focusing on easier ways to eradicate it. Perhaps the only way to shift the fear people have of Down syndrome is for us all to keep promoting how amazing our children and loved ones are who have Ds and to challenge it when such negative perspectives are given air.

    • That’s the crux of what I’m trying to say. I hope it comes across that way and not that I resent any research at all. I just want people to embrace the differences we all have, however we get them.

  4. My best friends daughter has DS, and like you say I dont think she would have chosen to have a child with DS but now it is as much a part of her personality as is her “jewelleries” and her infectious laugh. I lost my first child in labour, 10 fingers 10 toes and all the chromosomes needed. At 40 I discovered I was again pregnant and when asked if I want the DS “test” I said a straight flat out NO!, I want this baby, and I do not want anything that may harm them. To me growing up and loving Jessie made me a better person, I wanted a happy healthy child . My child wasnt born with DS, but it wouldnt have made a difference to the love I would and have given.
    Great Post – Love to you and your family xx

  5. What can I say….except thankyou for your words. I have two sons with disABILITIES and I’m with you, take away the disability and you are removing a part of them. Would I have chosen their disabilities for them … no…. but would I change them for the world no….. they are both amazing and excelling at all they do. My eldest is part of Team Australia and will be swimming for his country at the Special Olympics Asian Pacific Games, he is also representing his state next weekend playing Aussie rules football. The younger has developed beyond what we ever expected him to. he is an amazing young man who once you know him he becomes part of your thoughts. We recently celebrated their 21st and 18th birthdays it was the best birthday party even the bar staff at the function centre commented on what a great party it was. All I can say to people is hang out with a few of them for while and appreciate how wonderful they are. they are usually the most accepting and willing people you could meet. we need all kinds to make the world go round I hate to think of a world where only perfection will do……..
    love and good thoughts heading your way xoxoxox

  6. I have been following Ds research for 16 years. I have tried many of the options that have been available and safe for my daughter. Faith will be entering high school as the first student with Ds to be fully included. As an advocate for my daughter I want her to have everything possible. But everything is not possible for her as it was for my other two kids, and she is starting to see and understand that. When she participates in dance classes, that she loves, with typical kids, it is very hard for her to keep up with girls her age. That makes her sad. When she tries out for a play and her speech is too hard to understand, she is excluded, and she is sad. Trying to keep up with academics is a huge challenge and one she takes on every day of school. For the effort she puts in she should be getting A’s, she is sad to see her fantastic efforts give her C’s. She has lots of acquaintances, everyone thinks she terrific, but she has no friends outside of school and activities she participates in. So if I could take away some of those effects of Ds that make her sad that she is outside the mainstream, I would. She would be no less herself without Ds, the Ds does not define her.

  7. My cousin has DS & I agree take that away he would be completely different. But as much as I love him most DS kids have something else wrong, so maybe that’s why they would want a cure.

  8. Wonderful article. They tried to tell me, based on an early ultrasound, that my oldest had T18 & almost demanded that I abort him. I told them to go to hell and found a new doctor. My son was born 46XY, and is now in college on a full scholarship. You have to trust YOURSELF to know what is best for your child, not some so-called “expert” with a bunch of letters behind his or her name.

  9. I also have felt disturbed a little by the new possible “cure”, BUT…..I know I would LOVE to see the medical complications/diseases/illnesses that commonly go along with our children with DS removed from their “likelihood”! CERTAINLY I WOULD WISH AND BE THRILLED with the lower possibility of Andre ever suffering with medical issues….HOWEVER, I ADORE and LOVE EVERYTHING ABOUT HIM….JUST AS HE IS!!!!!!!! He has the sweetest demeanor, the gentleness in his eyes, I would NEVER CHOOSE TO CHANGE HIS LOOKS, or if his mentality is of a low level….I’m FINE WITH THAT, not everyone will be a genius, and…I COULD NOT BE ANY PROUDER TO HAVE HIM JUST AS HE IS…AS MY SON!!!!!! For and in HEALTH CONCERNS ONLY, Yes….I would love to remove the DS from his make-up, but for ANY other reasons….ABSOLUTELY NOT!!!!!! It makes me feel like they are saying…DS should be wiped out….and that would indicate that MY SON is NOT suppose to be here, nor is he accepted….or wanted. That is the FARTHEST from my feelings…. when I was pregnant would I have chosen to remove his DS, sure…..because of fear, unknown, being scared….Would I remove it today….NOPE, not ALL TOGETHER, but I would gladly change what I could to help him live a healthy, longer, life! Medically..YES, society….individually….NO WAY! BLESSED BEYOND to have my baby boo, My Andre Isaiah, just as he is…..with prayers and belief that he will live a life filled with possibilities and teachings to the world of JUST HOW WONDERFUL LIFE IS, and ALL HE CAN BRING TO EACH OF OUR LIVES! β™₯ β™₯ β™₯

  10. Much love to you for this heartfelt post. Talking about the comedy really struck a chord! We have a family member who is just my age–65–and still as charming and lively and sweet as he ever was, Himself, the Personality Kid. Loved and lovable.
    His life has enriched others all these years.

  11. I always wondered – would the world/ society actually be ‘better’ without people with Down Syndrome? The actual conception statistic is 1 in 300 pregnancies – does this perhaps mean that nature intends for people with Ds to be part of our humanity – as much as red heads or eyes that are a striking coulor of green or blue? I too feel uneasy when I see the real possibility that Ds could be eradicated.

    • Thanks Kim, I was wondering what the conception rate was. I wonder what the percentage across the board is of live births then? How much higher than the 5% amnio statistic would it be?
      I love theoretical discussions like this although I do tend to get myself tied in knots trying to nut it out!

      • “Down syndrome is one of the most common causes of mild to moderate learning difficulties, affecting between 1 in 1,500 and 1 in 400 babies born in different countries, depending on mothers’ ages, and prenatal screening policies.

        In the UK in recent years, approximately 1 in every 920 babies born has Down syndrome (745 babies in England and Wales and around 840 babies throughout the UK each year). In the USA, approximately 1 in 830 babies are born with Down syndrome (4,700 annually). Across Europe, around 9,000 babies are born with the condition annually. Worldwide, we estimate that 220,000 babies are born every year with Down syndrome.

        In the UK, the birth rate has risen in recent years: in the five years to 2009, the birth rate was 9% higher and 22% more babies were born than in the previous 5 years. In the US, between 1979 and 2003, live birth prevalence increased by 31%, from 9.0 to 11.8 per 10,000 live births. ” end quote
        http://www.dseinternational.org/en-gb/about-down-syndrome/

      • In Australia – 1 in 1100 births
        In America – 1 in 900
        (These may be diff now but last checked/heard these were the birth stats)

  12. Very thought-provoking.
    I think that an important thing to consider too, in all of this. is not only what ‘we’ want for our kids, but what they want for themselves.If they understood that there might be an option that would take away some of the negative effects of Ds, would they choose it for themselves? Or would they choose the life that they know? I don’t think that it is necessarily wrong to not treat, but neither would it be wrong for a person to chose treatment, imo..it should be up to each individual and their family.
    My son is 15 and has a lot of hopes and dreams for his future-he wants to drive a car, go to college, have several jobs at one time;-) He does well now-he is a very social young man, he can ride a bike, skis, does karate, swims,is an expert at his xbox and Wii games etc. He is a great kid..has a wonderful sense of humor,and loves being around people. But he struggles with academics. He struggles with making himself understood at times.
    At this point, he does not understand that his learning difficulties are related to Ds. He thinks that the only effect of Ds is that it has made him extra handsome;-) He has a very healthy self esteem.But what about in the future? Based on what I have seen with my son so far, I would probably seriously consider letting him have the treatment if he wanted it, because I see how much he loves to learn, but I also see how he struggles to do so. And if I could make things easier for him in that regard, I would do it in a heartbeat. Doesn’t mean that I don’t accept him- I see it as ‘active acceptance’-I see and accept the fact that he has difficulties in certain areas, and I do whatever I can to help him, because it is important to *him*. I honestly don’t think that it would change the essence of *who* my son is if he was able to learn/retain knowledge more readily.

    • That’s the point I was trying to make too, that it is promising that we can treat the associated problems with DS, including cognitive function and communication and I welcome better therapies in this field but I am also asking the philosophical question that if science cures DS altogether instead of just the surrounding health issues, what other amazing qualities are lost.

  13. Thanks for a great post, it really hit home to me. My daughter has Asperger’s and an acquaintance has ‘cured’ her son of Aspergers and is promoting this far and wide. Good on her if that’s what she needed to do, my daughter’s response “Why would you want to cure Aspergers, being an Aspie is awesome!” – sure its different to us but that doesn’t mean that its wrong and needs to disappear. Like Wade, she has so many qualities that all those around her adore and she fills our lives, making me feel quite humble that I got picked to be her mum.

  14. There is definitely a lot to consider. As it stands right now, people with Ds have a much lower incidence of solid tumors than the general population..they have a higher incidence of leukemia, but also a higher cure rate than those who do not have Ds. I would want to know whether those things would be affected by the treatment before going ahead with it.
    Another thing to consider is how a potential cure or treatment would affect birth rates. As it stands right now, the termination rate is pretty high because people are afraid of the unknown. We all know how amazing our family members with Ds are, but it can be scary to get a prenatal diagnosis. Maybe if there was a safe treatment for Ds, people wouldn’t be so scared of having a child with that diagnosis. Doesn’t mean that everyone would have to have their child receive treatment, but it would be an option for those who felt it would be right for their child.

  15. We just attended the US National DS conference. There was a medical roundtable the day before put on by the Global DS Foundation. One of the presentations was on what are the POSITIVES of the extra copy of the 21st! Such a wonderful way to address things! Some of the traits: Great Visual Memory, very low Cancer risks (other than Leukemia) very low Cardiac Disease (MI), very low risk for other cardio vascular issues (stroke/CVA). There were others too, but I will have to find my notes πŸ™‚
    Our daughter is 16 and has taught us more about life than we can express.

  16. Fabulous, beautifully written post, and I have loved reading all the responses too. I think it’s really interesting that so many parents of kids with DS have reposted the original article on the ‘cure’, questioning the implications of the research – telling, perhaps, of how Down syndrome has changed each of us in positive ways. While we may never have wished for a child with DS, I can’t imagine a world without my beautiful boy and all the aspects that make him who he is. I absolutely want him to live his BEST life, to be healthy and happy, but I would prefer research to focus on how we can improve the lives of those with Down syndrome than how to avoid it altogether.

  17. Very beautifully written, and you made some great points. I lost my eldest sister with DS in october 2009 at age 51, and I really still miss her every day.
    In my experience, what people who don’t REALLY know enyone with DS don’t understand, is that they are all unique, just like “regular” people, each one with their very own personalities.

  18. I’m not sure what you are trying to say here. Yes, DS is an illness, whether you want to call it that or not for emotional reasons. It shortens lives. It brings disabilities. It limits development of intellectual potential. Everyone loves their children, disabilities or no. Are you saying your child would be less wonderful to you if he were fully able, that he would not have a wonderful sense of humour if he did not have DS? I think you are treading on very thin ice here.

    • Thanks for your comment. It’s a fraught discussion for sure but the point I am trying to make is that when a person has DS, they don’t necessarily have all of the associated illnesses. I welcome treatments for those illnesses that impact negatively on our kids lives. But I am also asking the philosophical question that is there more to DS than just a set of illnesses? Is there value in people who see the world differently? I don’t think my son wouldn’t be funny if he didn’t have DS, I am trying to highlight that I don’t know how much of his personality is due to the extra chromosome or not. I guess I’m really saying that DS is part of a persons genetic makeup and accounts for some of the positive and negative aspects of who they are. I would rather society was more accepting of difference than try to eradicate DS altogether. It’s an interesting discussion.

  19. Thanks for a really well written post,opinions differ for everyone and its great reading all the comments as i’ve learnt so much more.I have boy/girl twins and one of them has Down syndrome,my husband and i chose not to have any testing throughout our pregnancy as there is more risk with twins but we wouldn’t anyway,why worry about something like that? They are still our children and we’d love them whatever we are dealt with.we just go with the flow and the challenges and rewards are amazing.
    Having said that our daughter had to have heart surgery at 10 wks old (they were 9wks prem,so scary stuff)and she has very limited speech so far(age6) these are things i would like to change to make life a little easier for her but she has been reasonably lucky to not have a lot of medical issues so maybe i’d think different if she did.
    we just see that we have 2 beautiful children that are the best of friends and they both go to a mainstream school and have lots of friends.having a child with a disability has changed us but in a good way and we feel very lucky to have learnt so much from her and about ourselves.
    Research and technology will always bring new things to improve lives but a cure is not really needed for Down syndrome but more public awareness is needed so that people are not scared to accept the beautiful person they have created.

  20. Pingback: Shutting off “Down Syndrome” gene..A Mother’s take !! | Two Minute Parenting

  21. Pingback: Happy Birthday little Blog! | Embracing Wade

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