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Friday, May 31, 2013

The Future of Down Syndrome

I’ve sat in front of my computer screen debating just how to start this topic, or whether I even should because I’m about to ruffle some feathers. But this blog isn’t here to magically align with everyone’s beliefs, and I refuse to shy away from controversy just to avoid offense, so I’ve decided to power through and get my thoughts down here. It’s not to make myself feel better, but to educate the public about what I see as an emerging civil rights issue, and one that affects my family deeply. You see, I am and always have been pro-choice, but everything I thought I knew and believed in regarding a woman’s right to choose has been turned on its head since entering the Down syndrome community. I know to most outsiders this may seem like a strange connection, but abortion and Ds are closely intertwined and becoming even more so with the advent of noninvasive prenatal testing.

When I was pregnant with both my boys, I remember being offered first trimester screening, which included blood tests and ultrasounds to check for chromosomal abnormalities. Because we wanted as little intervention as possible, we declined these tests and continued the pregnancies as normal. Had I done these screenings, they would have likely raised a red flag with Quinn and I would have been referred for more tests. For most women, this would be an amniocentesis or chorionic villus sampling (CVS), both of which are invasive, painful, and slightly risky. They do, however, carry a rather high accuracy rate in detecting chromosomal anomalies like Down syndrome or other trisomies. Since we opted out of the first screening, we never detected anything unusual until Quinn’s anatomy scan at 20 weeks. This is when the ultrasound technician noticed his slightly enlarged kidneys and referred us to a genetic counselor. 

Our GC, who was amazing by the way (this is worth mentioning because many of them are not…I’ll get to that later), introduced us to a test called Maternit21. It was a ground-breaking, noninvasive blood test that analyzed fetal DNA in the mother’s blood for the presence of extra chromosomes. It was over 99% accurate and carried no risk to mother or baby, unlike an amnio or CVS. We agreed and waited for the results, which you all know came back positive for Down syndrome. At this point, we were devastated, an emotion that I feel somewhat silly for feeling in retrospect. But we were new to this world and had preconceived and outdated notions about what Ds could mean. And we were left with an agonizing decision: do we terminate this pregnancy?

In the end, we chose to carry our little man to term, but not entirely for reasons you would expect. To terminate a pregnancy at 24 weeks (which was where we were once all diagnostic results were in) meant an induction of labor and a full vaginal delivery. I would see my baby and he would not be breathing. And it would be my fault. I knew that would be an image that I could never erase from my mind, even if I lived to be 102. So I chose life. It was my choice. 

But here’s the kicker, and the reason for this post: had I received Quinn’s diagnosis earlier, at say 10 weeks, I would have terminated the pregnancy. This is one of the first times that I’m admitting this, but I know myself well enough to be honest after the fact. Of course, I would never decide this now, but then I knew virtually nothing about special needs parenting, and I would have taken this route and convinced myself that it was for the child’s well-being. I was scared about potential health problems, what his future would hold, and if society would accept him. These are the thoughts that many women have as well, since anywhere from 88-92% of prenatal Down syndrome diagnoses end in termination. That’s a staggeringly high rate, and many experts are convinced that it will only increase as noninvasive prenatal tests like Maternit21 gain ground and become a routine component of prenatal care.

When I took Maternit21, it was brand-spanking new. Unless you lived in a major city with top-notch medical care, like Houston, it was likely unavailable. Now, 6 months later, it’s everywhere. Doctors are scrambling to gain access to these tests and Maternit21, which originally had a hold on the market, must now compete with identical tests from other manufacturers like Harmony and Verifi. The result? More women are receiving prenatal Down syndrome diagnoses than ever before and now as early as 10 weeks. Most experts expect that these maternal blood tests will replace first trimester screens within the next year or two and become a routine part of prenatal care.

Of course, the implications of this medical breakthrough are staggering. As more and more women receive early diagnoses, the abortion rate of babies with Ds will increase dramatically. Some even argue that these tests are the beginning of the end altogether. We were lucky that both our obstetrician and our genetic counselor were supportive and informed, but from what I’ve gleaned from groups and boards online, most are not so fortunate. I’ve heard horror stories of women who, upon receiving the news that their unborn child has a chromosomal anomaly, were immediately asked when they wanted to schedule their termination. Many genetic counselors deliver a diagnosis and then insist that the child will never live a “full” life if the parents decide to carry to term. Misinformation and prejudices about a much-misunderstood condition may lead to the end of Down syndrome as we know it. Some see this as a celebration, but what does it mean for my child? 

On the most basic level, it means a growing number of professionals who will not be properly trained or equipped to give Quinn the best medical care, education, and intervention possible. But it also means a significant cut in funding for research and programs aimed to help individuals with Down syndrome. After all, why throw money at something that is going to disappear? And what if insurance companies one day decide that those who receive prenatal diagnoses but decide to have the baby anyway are denied coverage for their child due to this choice? While this seems far-fetched, I’m afraid of what the future holds, especially in a society so obsessed with appearance and financial success. It’s only a matter of time before prenatal testing can determine a child’s eye color, temperament, or predisposition to certain diseases. And if the result isn’t what the mother wants, it may be seen as an opportunity to start over and try again. 

So my mission is now clear: I aim to educate, celebrate, and pontificate about all the ups of Down syndrome. I will not paint an overly-rosy picture because I am a realist and Ds can be tough. But parenting in general can be tough, special needs or not. And I can honestly say without hesitation or doubt that Quinn’s life is worth every worry I’ve had for his future, every single tear I’ve shed in his past, and all the smiles I see in the present. And there are a lot of smiles.


  1. It is a sad and scary thought really. Tests that allow people to choose life or death based on preconcieved notions about what a child will be like. Your son is a beauty. You can see his spark and personality in your photos. The world would not be as good if he wasn't in it. I have a brother who has Downs Syndrome. I love him and fear for him, but my entire family know we are who we are because of him.

  2. Interesting points and bizarre to think about...
    I was 21 weeks when we received our daughter's Ds prognosis. I'm now 28 weeks and we're educating ourselves like mad and grateful for the amazing support from all areas!

  3. Hello beautiful family! My name is Alessia and I am from Spain. I have a 22 year old little sister with Down Syndrome and she is the person I love the most, I would not change a single thing of her. Of course, this is something only people who have DS love ones or witness how much good they can bring into a family can understand. Thanks for sharing this beautiful testimony and this celebration of life!