News broke recently that a University of Massachusetts Medical School research team has found a way to suppress the expression of the extra chromosome in people with Down syndrome, making it at least conceivable that some of the typical manifestations of Down syndrome could be treated – maybe even prevented altogether if treated in utero.
When I first read about it, I was encouraged.
Since 1958, when Jerome LeJeune identified the cause of Down syndrome as a trisomy of the 21st chromosome, the attitude of most of the scientific and medical community has been that Down syndrome couldn’t be treated due to its complexity, so few dared to try. In fact, the current level of funding devoted to Down syndrome research – even that targeted at narrow aspects of the condition, like cognition – is far outpaced by funding for less common conditions such as cystic fibrosis and fragile X syndrome, so I was happy to hear that someone somewhere cares enough to study Down syndrome.
But I was wary, as well.
As firm as I am in my assertion that Down syndrome is “something Nathan has, not what he is,” it’s not quite that simple. While I’d love for his struggles with speech to disappear, I don’t think I’d be willing to sacrifice the monster hugs he shares all ’round. I’d like for him to be smart (not just clever, which he already is), but would I have to give up his mischievous grin to make that dream a reality? I’m not sure, but I wouldn’t want to if so.
It’s natural to wish he wouldn’t struggle, and to see Down syndrome as the root cause of his struggles, both now and further down the road. But is the extra chromosome really the problem, or is it the people who view Down syndrome negatively? What difference does it make if Nathan is short? Does it really matter if he doesn’t earn a college degree? Most of the things that characterize Down syndrome aren’t diseases or even conditions – they’re just different ways of being.
To be fair, I also had to ask myself: What if a cure was developed for cerebral palsy?
Thinking about Sarah Kate and her abilities, I do think I’d want to cure her if I could – but my feelings are complicated. Sarah Kate has gained a lot on a personal level by having cerebral palsy. Her life hasn’t been as easy as that of her peers, and she’s had to work hard to achieve things that most kids take for granted. Those challenges build character. But does she need to continue to have cerebral palsy to benefit from it?
I don’t think so, but does that mean I’d want to cure her? I’m not sure.
I think I would, but I posed the question to her, and she answered – without hesitation – “no”. She doesn’t want a cure. But even if she felt differently, cerebral palsy is only one aspect of her, and comparatively simple. It’s a different way of being, yes, but unlike Nathan, cerebral palsy will – without a doubt – create health issues for her in the future that are wholly independent of other people and their opinions. If her CP was taken away today, she would still be the same kid. If Nathan’s T21 was taken away, would he be? I don’t think so.
Yes, I think I would. We are at the beginning of this journey, so maybe if you ask me again in 5 or 10 years I would have a different answer. Right now I pray for a cure every day. Jacob has a neuro typical twin, so his lags/lacks are always glaring. More than that I just wish I could KNOW him, what he thinks what he likes. Just wish I he could talk to me.
I’m not sure if you’ll feel differently 5 or 10 years from now – some parents still hope for a cure when their children are older – but you may. At a minimum, you’ll grow more comfortable with it and it won’t be as scary and “in your face” as it is in the early years (compounded by the presence of a typical twin). I also struggle with “knowing” Nathan, as you said, because his speech is unclear. We know without a doubt that he is saying things, but we so often we can’t understand him and it’s tough.
Your perspective is interesting and what a tough question to answer!
Perhaps I am more akin to SK, but with a condition caused by an extra part of a chromosome. Unreservedly I want a cure for my nerve disorder. For myself, and for others, and for those yet to be born who might have it. Yes, it has made me who I am. But as my condition is progressive, it will also someday alter what “me today” can do and takes for granted.
Yes. I want a cure. 100%. And I fundraise and campaign to make it a reality.
I think you are more like SK, and there’s also the threat of it being a progressive condition. There’s no doubt that I would want a cure – or at least something to stop the progression – if Down syndrome were progressive. As it stands, I desperately want to see a cure for Alzheimer’s disease, as I know he’s at a higher risk for early onset Alzheimer’s.
My first reaction to the post was “does genetic perfection, then, guarantee happiness? Does it mean a child has no struggles? That he/she will not be bullied/looked down upon?” Nope. Doesn’t work that way. My son has no genetic abnormalities, yet has struggled since day one. Speech delays, social issues, cognitive issues….all led up to one miserable child in school. Bullying was his norm.
If the question were posed differently, as in “if you could remove some of the roadblocks in your child’s life – yet still have the strength and courage that resulted because of them – would you?”
Absolutely.
Oh boy!! That’s a hard question! I think if you could “cure” it in womb, I would be for it. You can’t miss what you don’t know. But if “curing” Down’s syndrome would change who the child is, I think I might be against that. Wow!! That is a hard question that really deserves more than a minutes worth of thought.
Would that I had the chance to choose!
And if I had that chance? No.
Because finding a ‘cure’ means stopping research.
A new breed of ‘no-longer T21’ reduces the status of those who live with it.
And because the public opinion (oh so slowly becoming more open-minded towards those with disabilities) would slam shut. Parents who chose not to cure would be pitied or ostracised or even told they were abusive for deciding to ‘put their kid through it’. The world would be a less friendly place.
And goodness knows, that’s the opposite of where it needs to get to.
That’s an excellent point, and one that I thought about but didn’t include in the post. Some of the articles on this new research indicate that real world application could be achieved as early as ten years from now – it scares me to think that Nathan could be one of the last of his kind. It reminds me of that movie Gattaca where Ethan Hawke’s character was the product of his parents choosing to roll the dice and take what they got, rather than genetically engineer their child. It’s not so far-fetched, and I’m afraid it may not be that far off, either.
Andi,
Funny, every time I hear of research like this I also think about the movie Gattaca (which I love). The movie also drives home the point that success is possible despite having so-called less than optimal genes. My son has autism and when we first learned of his diagnosis I tried every alternative therapy under the sun to “cure” his condition. After imposing a lot of extra stress upon myself and my family, I finally asked myself what exactly am I trying to do? If I was able to “cure” him what would that even look like? Who would he be? And I came to the conclusion that if he woke up tomorrow without autism I wouldn’t even know that kid and he wouldn’t really be my son. It was at that moment that I began accepting our situation and seeing the gift I had been given. Now with that said, I know, and deeply respect the fact that there are families struggling deeply everyday due to the severe nature of their child’s condition and their answer may be completely different. Nonetheless, a very interesting question. Thanks for starting the conversation!
Great point, Tanya, about the success-in-spite-of message! My favorite scene in the movie was near the end when (TINY SPOILER ALERT FOR ANYONE READING WHO HASN’T SEEN IT) the doctor subtly revealed to Ethan Hawke’s character that he had known he was a “lefty” all along. It was a great commentary on how, no matter how dark things become, good people will still do their part – even in hidden ways – to help eliminate the obstacle in another’s path.
If my son were cured, he would be a completely different person. It would change him and I would not know the new person; he would be someone else entirely. So, no, I would not cure him if I could. I believe God created him the way he is for a reason that I cannot begin to comprehend. I just have to accept and love him because he is a gift I’ve been given; his packaging is unusual, but still beautiful.
Andi I am curious why do u think Sara Kate would not be a different kid without CP but Nate would ? I know i be a different person without CP just wondering
Well…I should probably clarify. I do think that Sarah Kate would be different if she had never had CP. If her CP was taken away today, I don’t think it would change her much, if at all.
Can u elaborate on this
When I say different, I’m referring to her personality, not physical differences, because I don’t believe that physical capabilities make the person – they may help her develop character, but not personality. I say that because when Sarah Kate was born ten weeks early weighing only 2-1/2 pounds, she had the exact same personality that she does today. She wasn’t clingy, she was very feisty, she didn’t want to be bothered, but she didn’t dwell on things. She’s the exact same way today.
Down syndrome, on the other hand, has barely limited Nathan at all. He’s developing at either normal or low-end-of-normal levels so many days it doesn’t feel like Down syndrome has any effect on him at all. I know that it does, though. While the myth that people with Down syndrome are always happy is false, there’s also a special something unique to people with Down syndrome that is more predisposed to joy, love, and forgiveness, and I can see that (what Julie Tennant calls “The Love Chromosome”) in Nathan. Without that, he wouldn’t have the same personality, and therefore wouldn’t be the same child.
i think experinces make us who we are. I have had to go through a lot of hard stuff due to my disabilities and it is made me who i am i do not think i would want a cure
I would definitely want to cure PKU. It is also a genetic disorder with one defective liver enzyme, but so hard to figure out how to get the body not to reject the cure. Genetics is so complicated it blows my mind. Since the only thing PKU really affects is the diet, it would be awesome to have a cure and shouldn’t change the person. Yes, people who have lived with it tend to have gained strengths such as discipline and healthy eating, but who’s to say they wouldn’t have developed those same characteristics through some other trial of life? Everyone of us faces trials. How we deal with it is part of who we are and who we become.
But autism would be a very gray area like DS, I think. They don’t even really know what causes, much less how to cure it. MUCH more research needed here! And personalities would definitely change. Fortunately, Carson has mild issues. He is very friendly to everyone, loving, affectionate, and helpful. He is also a perfectionist. These sound like traits he inherited from his parents! lol I don’t think that would change. But a lot of things would. Very interesting thoughts, Andi!
Hi my name is Karla, my situation with my son is a little different. My son was recently diagnosed with Mosaic Down Syndrome. It means he only has the extra chromosome in some of his body (that is exactly how the doctor explained it to me). I’m still not sure what parts of him has it, they say it would be a long, painful process. My son is short and a little underweight for what a “normal” two year old would be. He doesn’t talk yet, says very few words and he doesn’t articulate them very well either. I’ve been asked about the cure also, even by my pediatrician, but I feel the same way you do. I don’t believe the Down Syndrome defines my son, but I am afraid that we wouldn’t have the adventures that we have had, or that I would even learn new things along with him. It has been difficult at times, but everything about who my son is is so precious to me. I would be afraid to loose who he is. Like you mentioned nothing very life-threatening has happened to him and if that were the case I would cure it in a heartbeat. He may be a little slower and do and see things a little different, but that has been fine with me. It has been a blessing in disguise.
What a coincidence, Karla! My son Nathan also has mosaic Down syndrome! It’s so rare that I’ve never met anyone in person who had it (or anyone with a friend or family member who had it). We also never pursued any sort of estimate of what percentage of his cells are affected because it doesn’t really make any difference. He’ll do what he’s able to do. As for everything else you said, I feel the exact same way.
I had the same feelings as you when I heard about the breakthrough. I don’t want to change who Cameron is – He has this kind of “Pure” love that I don’t think that my other children had. I am scared that by silencing the extra chromosome it will change his personality and that is something that I would HATE. However, I would like to take away all the delays and difficulties that he faces and will continue to face. I want him to be able to learn and grow as every other child without the discrimination. I want him to lead a healthy life and not have to worry about the medical challenges that individuals with down syndrome have as they grow old.
This is something that I will have to watch closely and educate myself about as the clinical trials begin and as more information is released.
I think what I struggle with the most is that it seems like many of the problems – excluding the higher risk for some diseases – wouldn’t really be problems if our society was more accepting of our kids. Why should my kid need to change because the world is defective, you know?