“If ever there is tomorrow when we're not together.. there is something you must always remember. You are braver than you believe, stronger than you seem, and smarter than you think. But the most important thing is, even if we're apart.. I'll always be with you.”
~A.A. Milne, from "Winnie the Pooh"

Tuesday, August 6, 2013

Gene Therapy and My Views on the Raging Debate.....

I try very hard to avoid the hot button topics here most of the time. After all, that doesn't necessarily fit in with the mission of this blog, which is really just to show what life as the parent of a child with Down syndrome is like and to occasionally work through my own thoughts and feelings, which I do best by writing them down.....However, there is a large controversy brewing within the Down syndrome community and since this subject is one that I have a lot of thoughts on, I thought I would put my two cents in.
Scientists at the University of Massachusetts Medical School have found a way to essentially "shut off" the extra 21st chromosome in petri dishes. I have friends within our Ds family who sit solidly on one side or the other, and while that's perfectly fine and dandy, I have watched in disappointment the same community who work so hard to combat ignorance and injustice fight amongst themselves and in some cases, treat each other with horrible disrespect. It saddens me. The entire thing saddens me.
I have my own opinions on the matter, of course, which I'll get to in due time. But I also have grave concerns about the motivations, long term effects, and consequences which come along with essentially "playing God" in a laboratory......

1) What are the long term effects that could come with negating the "positive effects" of a person's genetic makeup? I've heard the arguments about the stereotypes of people with Down syndrome being extra loving, extra happy, etc etc. I understand that with that extra chromosome comes higher chances of some pretty nasty stuff....delayed development,early death, respiratory , GI, and cardiac defects, leukemia, and early onset Alzheimer's. I understand the urge to eliminate the increased risks for these things. I truly do. Especially considering that these are issues that we may have to face at sometime in our future (and are already dealing with cardiac defects). Yet I think that we also can not forget that there are some positives as well, including a greatly decreased risk of other types of cancer, a higher remission rate in kids with Ds who have fought leukemia, and a decreased risk of complications that come from diabetes and high blood pressure. These are things that aren't fully understood but which are directly linked to the extra chromosome and which I feel strongly were they studied could lead to breakthroughs in the treatment of the general population who face these problems. So my question is this: Instead of shutting off the extra chromosome all together, why aren't we pushing as a community to put those researchers to work eliminating the "side effects" rather than the syndrome itself?

2) What are the consequences of messing with the genetic makeup of an individual? How much of a person's personality is formed from an early age by the challenges they face? How much effect does Ds actually have on the individual characteristics our kids have? Will shutting off the extra chromosome in utero eliminate the physical characteristics that go hand in hand with Ds? Essentially, I wonder who our kids would be without that little extra....would they be the same or would they be profoundly different children? I feel strongly that we are all shaped by our experiences from an early age. I know that my parents' divorce when I was 6 years old was a contributing factor to the person I am today, as were all the other challenges I have faced in my almost 36 years on Earth. I am not the same person with the exact same beliefs and personality traits that I had even 3 years ago. Yes, essentially there is some part of me that is the same as that little 6 year old girl I used to be, formed by my own genetic makeup. However, so many parts of me are profoundly different, which makes me sincerely wonder who my daughter would be even now had she not faced open heart surgery, had she not had to fight so hard for her life, and had she not had to work so hard to meet developmental milestones. Would she be the same girl? I really don't know.....

3) The question that bothers me the most. The one that is the crux of my fears about this potential therapy....What is truly the motivation behind this research in the first place? Is it truly an attempt to help kids with Down syndrome or is it simply one more way to eliminate it? I fear its end result is elimination. And that's the saddest part for me. I understand a parent's motivation to support and seek out this therapy for their child when it becomes available....I understand that we all do what we feel is best for our kids....and I understand fully the wish that, as a parent, you never had to watch your child struggle. But I know parents who are appalled by the high abortion rates for fetuses diagnosed prenatally with Ds who will do whatever is in their power to turn that extra chromosome off completely. And I think that quite honestly, had something like this been available when I was pregnant with Liddy, before we fully understood what Down syndrome would mean in our lives, we, who were so solidly against having an abortion regardless, would have probably jumped on the chance to never find out what it would mean for us. And really, just as with an ever increasing abortion rate, Down syndrome won't be eliminated. Kids with Down syndrome will. In my opinion, that's a travesty in itself.....

As for my opinion, I'm sure that it's already at least partially clear at this point. Maybe I'll be considered selfish, maybe there will be some who believe that I am a bad parent for my thoughts, for my refusal to change my daughter. I really don't care what the opinions of any one else are about me...the only ones that matter are those of my family and we all love Liddy exactly as she is  (that's not to say that parents who would choose the opposite love their kids any less btw...so no hate mail please!).

Being Liddy's mom has changed me. And quite honestly, I could have never imagined being so head over heels in love with every bit of someone as I am with her. She is an ever changing kaleidoscope of personality...one minute the sweetest girl you've ever seen, the next a raging wild cat....one second good as gold, the next full of every bit of two year old naughtiness she can muster. The most amazing thing about her is that two and a half years later, I am every bit as fascinated by her as I was the first day she was placed in my arms. She is smart, she is hysterically funny, she is the hardest, most determined little worker I know. And while on one hand, I would love for her to never have to struggle to overcome the challenges Down syndrome has brought to her life, on the other, I wonder if she'd still be the same child I love so much if she had never had to face any of them.

I know for a fact that I would desperately miss her sparkly almond shaped eyes and her tiny crooked pinkies. I simply can't imagine how horrible it would be to look at the face of the beautiful girl I love so much and know that some piece of her, some vital part that makes her in any way the girl she is, is gone.
Is she who she is because she has Down syndrome or is she who she is because that's just who she would be irregardless? I really can't say for sure. But what I can say without a single qualm is that I never want to find out.
She isn't Down syndrome. She's so much more than a useless label, so much more than a stereotypical ideal. But in my eyes, Down syndrome IS a part of who she is and that is someone I love with every ounce of my being.

Would I change her if I could? No way. Our lives are richer because she exists, exactly as she is, extra chromosome and all.......


  1. I absolutely loved the way this was written. And I miss you both terribly. I'm glad that we were brought together on this journey. Love you!

    1. Awwww Thanks, mama! We miss you tons too! Can't wait to give you a big ole hug! Love you back (but more!)

  2. I loved how you wrote this as well. With nuance and careful thought. I pretty much agree with you in all ways, so maybe that adds to my appreciation of this post. ;)

    This idea of removing struggle has been on my mind as well. It is of course natural to want to remove struggle, but struggle shapes us and makes us stronger as well, right? You're not selfish though, I absolutely hate some of the comments I've seen suggesting things like that.

    Thanks again, loved your post. :)

    1. Thanks for stopping by and reading! :)

  3. Well done as always Mama, well done!

  4. I agree! Messing with anyone's genetic makeup is quite a hefty proposition -- I think this idea is a moot point for anyone with kids already born. I actually don't know who WOULD agree to such a thing. I think the existence of such technology/medicine puts such a heavy burden on parents-to-be, who are already in a fragile state as it is.

    I'll be curious to see how this develops as they learn more. Hopefully it will never be as drastic and science-fiction fantastical as it sounds now.

    1. I have friends who have already said that they would jump on this for their children if it was available and would help them. And as crazy as it sounds, I get it. It scares me...and isn't an option for our family but I really do understand wanting your child to not have to deal with some of the things that go along with Ds. I just worry that you always have to pay the piper in some way...and Down syndrome isn't as big of a deal to us right now. Definitely not big enough that I would risk changing who my daughter is supposed to be, who she was made by God. But that's me. And I don't judge any one who would choose differently. I totally agree that I hope it doesn't end up being as drastic as it seems now....but I think that the debates are just heating up and will probably get worse as it gets closer to time that they can test on humans.....

  5. I really appreciate you weighing in and writing. You have a great way with words. The foundation I keep leaning towards on all this is respect. And you really exhibited respect here. We have not been able to garner true respect for individuals with disabilities yet and so I too question the motives especially when they are not delivered respectfully. Thanks again for reminding me to keep my focus on respect.


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