Down Syndrome Diagnosis: The Choice In The UnknownPosted: October 1, 2013
I hate hospitals. I dislike the sterile feel, the winding hallways, the beeps, the snap and rustle of plastic. Even more than that, I feel out of control. I personally experience hospitals this way, I can’t help it. I can’t ever seem to shake the feeling that I’m being shuttled down a preordained path.
For all the informed consent forms that I have signed in the hospital, I never felt like I had much true agency. For me, the hospital path felt like being lured with impossible amounts of information down a series of staged forks in the road—one side would have a sign signifying “Better Choice”, and one side had a bunch of weeds choking the path. It was always so difficult to know what was the doctor, what was my lack of medical knowledge, what was actually evidence based practice, and what was social pressure. What was uncommon versus wrong?
When I was 16 weeks pregnant with Mouse, our doctor encouraged us to do the prenatal blood screenings, before it was “too late”. At that time, we were offered the quad screen that gave the statistical likelihood that I carried a baby with Trisomy 21, Trisomy 18, spina bifida, or ancephaly. We had already decided not do those screenings and informed the doctor as much. He sat back in his seat and uttered a very perfunctory, “Well that is your choice”. He did not hesitate to say that we could call if we changed our minds.
Despite that the doctor never took the time to actually discuss those screenings, the sign read clearly in my mind. We could decline those screenings, but we would be going against common practice. Go that way, it is better. There was no emotional space in the room for us to choose differently; the path to declining that prenatal testing was choked with weeds. Was it because testing was truly a better practice, or was it because of a commonly held belief that some babies were better off not born? Would it help me mentally prepare, or add unneeded anxiety?
Even deeper than the issue of abortion, was a different, more fundamental assumption: The culture of modern medicine thinks more information is nearly always better. We assume that more information leads to more choices. Having more information and more choices can only be good.
Our late Down syndrome diagnosis was a story of less information and fewer choices…
Our diagnosis story was different from most. No one “broke the news” to us. I was the one who first saw that first flicker in LP’s face. I was the one who uttered the words “Down syndrome” to my husband. LP was nearly three months old by time we got the results. By then, it only confirmed what we had already accepted—our child has Down syndrome.
Our Down syndrome diagnosis came as a surprise. I had no complicating health conditions and an uneventful pregnancy. Had we gotten hospital prenatal care, something may have shown up on an ultrasound, but I had no medical indication to get one. The fact that my baby was growing inside of me with 47 chromosomes was a medical non-issue until well after his birth. The simple act of being in a hospital would have probably caused us to find out about LP’s Down syndrome much earlier as well. There are so many people who come in contact with a newborn baby, I’d guess that someone would have suspected and suggest we do a karyotype.
Our friends and family were understandably shocked when we announced that LP has Down syndrome. Heck, when we started suspecting, we were shocked; it just wasn’t on our radar. People have asked me if I’m angry that no one “caught it”, if I’m angry at our midwife for not seeing it, if I’m angry that we were blindsided.
No, a thousand times, I’m not angry. Looking back, we weren’t blindsided at all. There were subtle signs all along. I’m grateful that we figured it out on our own. It gave us time to meet our baby, to digest those subtle signs in our own ways. Not that anyone can really prepare for accepting such news, but I believe that by the time we got that karyotype back, we were as ready as we ever would be.
I found beauty in the fact that I knew very little about my child at birth. In fact, the minute he was born, he wasn’t even a “he” yet. My brand new child. No gender, no diagnosis, no personality yet. Each moment that clicked by, I learned something new.
He’d be a boy. He had a full head of hair. He looked like Chipmunk.
He slept a lot. He had huge hands, long fingers. His father’s monkey toes.
He didn’t like hats. He liked sleeping on his side. He was a slow nurser.
He hated baths. He had a quiet cry. He loved being swaddled.
His eyes… whose eyes were they?
You see? Slowly, slowly, he revealed himself to us. Bit by bit, we came to know him. One day, we added “Down syndrome” to that list of things we knew about our son. We acquired information when we were ready.
Seeing past the weeds…
Last week I went to our local Down syndrome group to take part in the beginnings of a medical outreach program. Until now, our experience seemed so unusual that it didn’t even seem like I could contribute to most diagnosis discussions, but lately I’ve questioned that assumption.
I wonder… In the absence of pressing medical concerns, do parents have to get that karyotype right away? Do they have to digest the possibility of Down syndrome the same day they give birth? Is it always better to have the most information at the earliest possible moment? We decided that prenatal testing wasn’t right for us, because having that information didn’t alter the course of our pregnancy. Couldn’t that same logic inform a family’s choice to pursue a postnatal Down syndrome diagnosis?
That path could be weedy and not often used, but it seems like a valid option to me.
I remember very clearly that our midwife and pediatrician said we could get a karyotype if we wanted, but that there was no urgent need to do it. I’d had a healthy pregnancy, labor, and delivery. They did think that we should get an ECHO done on his heart if we did think he had Down syndrome, but neither saw any oxygenation issues that would need an immediate look.
I understand that we are not representative of the average family in this regard. We chose to decline more information than most others would. I do get that there are some families who will do better knowing as much as they can, as early as they can. This boils down to a personal approach to life, and of course both are valid. I also understand that had LP had medical issues needing immediate attention at birth, our calculus would have changed.
But… What if…
- A doctor knew a family’s personality well enough to wait a day before bringing up the possibility of Down syndrome?
- A doctor sat with a family as long as it wanted to answer questions about Down syndrome? (Our midwife came and sat with us for three hours and our pediatrician talked to me on the phone for 30 minutes, but I’d be willing to bet that many doctors don’t stay past a few minutes to deliver the news.)
- The doctor asked a family if it wanted to get that karyotype done, instead of told the family when?
For many, these different approaches may not alter the actual course of events, but I do wonder if it would change the quality of the experience. Even a little bit more control and understanding could go a long way.
I imagine that there are some who are reading this and think that we were simply lucky that no health issues were present during pregnancy and at birth. Yes, I agree that not all babies are like LP (T21 or not). I’d like to say, however, that we NEVER declined information at the cost of health and safety. Our midwife monitored my pregnancy for all health related concerns and we had more postpartum care than most people get in hospitals. Had immediate medical needs presented at LP’s birth, our calculus would have changed. I don’t want anyone to get the impression that we thought it was ok to blithely decline necessary medical care, so I’d be happy to answer questions about our experience in the comment section.
I’m not writing about this to imply that others need to do as we did. Everyone has different needs, different values, beliefs. The point I want to make is that as much as it is valid to want information, I think it is equally valid to decline information. I think that path is so seldom taken in our culture that too many weeds have grown up around it; we don’t see that there is an option to wait, to temporarily not know. Sometimes, not knowing is ok. Sometimes, having fewer choices is ok.
We ended up on this path by chance, but I want others to know that I’m glad we took it. Declining information led to fewer, but better choices for us. I needed to close my eyes, look in and see what I already knew before I looked ahead.