Tuesday, October 1, 2013

Would you want to take away being a lefty, Vivianne?

There is so much in the news right now about new Ds research and turning off the extra chromosome. I have so many mixed feelings about this news - some high hopes and some huge reservations.  I don't have any linear thoughts, so instead decided to share the drips and drabs of things I've been thinking as I process the news.

What happens in 10 years? I once read a wonderful article in Oprah magazine that has really become a cornerstone in how I look at the world when I am making decisions.  It is the Suzy Welch's 10 10 10 rule.  I'm thinking quite a bit about where this science is going, and how it might impact me and more importantly Violette in 10 minutes, 10 months and 10 years. 

The haves and the have nots.  Will treatments be expensive?  Will we see individuals who can't afford to participate? Will we see individuals forced (or strongly encouraged) to participate if they are on government assistance.  Will that assistance disappear?  What happens if some parents and individuals with Ds choose treatments, while others don't?  Will those individuals who don't get treatment face additional social stigma? Even with those treatments, will our children face prejudice? But will that prejudice cut them more deeply with the added cognitive reasoning they might have? 

Cool thought. Wouldn't it be cool if someday, scientists could take stem cells from Violette, turn off the extra chromosome and print a new heart for her without the effects of the 3rd copy of the 21st Chromosome on a 3D printer?  You know, a heart without a cleft in its mitral valve? Go manufacturing! Go geneticists! What an amazing breakthrough that could be.  Also, will the technology allow us to silence the chromosome in the cord blood and use it for a bone marrow transplant to treat the child's leukemia?   I can think of a myriad of other amazing things that could enhance the lives of individuals with Ds based on this research.  

Would you take away your genetic variance? I've been thinking a lot about my bald friends, my overweight self and friends, my left handed child and my gay friends (that list can go on and on, of course, but those folks have been most on my mind.)  Would they take their variance away with a magic wand (or magic pill?)  Would they take their children's variances away?  Vivianne has said NO WAY would she not want to be a lefty, in spite of the fact that she complains about being a left handed girl in a right handed world. How is Down syndrome the same and how is it different? I've been contemplating that.

Impact.  If I increase my child's ability to do math, improve her memory and chemically alter her capabilities for "higher reasoning" how will that change impact her happiness? Dr. Skotko's research shows that the vast majority of people with Ds are quite happy - and from my personal acquaintances with adult people with Ds, I believe that to be the case. So is the increase in what conventional wisdom says is valuable in terms of intellect a fair trade for a possible diminished life happiness?

Self Determination.  A lot has been in the news about Jenny Hatch and her right to have input on where she lives.  Will we respect our children - including our adult children if we are their guardians - and view it as their right to determine if they want to participate in research and/or a "cure?" Or will we impose our perspectives on them in hopes of something "better" from our purview?  

Having my cake and eating it too. Would it be possible to turn off the parts of the 21st chromosome that can cause challenges in memory, reading and math, hearing loss, and heart conditions while keeping the beautiful Brushfield spots, the creamy soft skin, the candor, and the spunk.

Side effects. What side effects might silencing the chromosome cause psychologically, physically, emotionally, etc.? 

Secondary conditions.  I've heard that the rate of Autism is higher in individuals with Ds, and there isn't a clear cut reason why.  Would turning off the extra chromosome take that away? Would they want to take it away, because many people with autism appreciate their unique identity too?

One syndrome, or many? I keep wondering if geneticists will eventually determine that what we consider one syndrome right now should really be considered a multitude of syndromes with many different variances.  At one point, breast cancer was thought of as one solitary thing, but as the tumors were looked at and analyzed it turned out there were many different types of cancers and those responded differently to different treatments. When I look at the wide range of impact the extra chromosome has on individuals in terms of health, speech, and cognition, it seems like there are bits and pieces that express (or don't express) that might benefit from research to turn off and target the parts that cause difficulty.

She'd still always have Down syndrome.  No matter what advances come from the petri dish, Violette will inevitably still be a person with Down syndrome. Silencing isn't the same as erasing. 

Start solving the mysteries!  I am probably equally excited and apprehensive about the big breakthrough.  In terms of day to day life, I'm also excited  about a project that Lito Rimerez has been working on in Columbus.  He has been quietly working behind the scenes assembling a team of Midwest hospitals and their experts on Ds to lay the groundwork for a Down syndrome Biobank.  You can read more about the work of Ds Achieves and their One21 campaign here.


Anna Theurer said...

Great post! I have had many of the same thoughts as you, but you articulate so nicely and clearly.

Becca said...

Excellent thoughts! I would also like to keep the candor and the spunk. :-)

pamper said...

I have had many of the same thoughts as you have. It is a very complicated issue with many ethical dilemmas.
My Tracy is not a "happy" person and she feels the "pain" of her limitations greatly. This all began in her very late teens as she started to get anxiety. Often she will questions why she has D.S. and why there is not somebody that can take it away so she can do math well, drive a car and live in London. Could intervention take away her pain, her menstrual cramps, her acid-reflux and accompanying vomiting . I would sign her up in a heartbeat and so would she. But at what cost to her. Would she fit in any better with an IQ of 10 more points. I do not know -or would she be even more aware of her limitations? I contemplate all this as my DIL is in another state delivering a baby as we speak and my heart is in my throat waiting and hoping for a healthy baby.

[REBECCA]scheerer said...

This is really great, Missy! My head flip-flops on this, too and there are many things to consider. One thing I do know: science is crazy amazing. We just have know how to use it properly. And one things I wouldn't take away: the perfect eyebrows. Don't forget about the eyebrows : )