Having a Child with Down Syndrome Part VII: Decoding the Medical Arts

Copyright © 2009 Steve Hawley, All rights reserved.

I never took Latin. In theory, I had the opportunity when I was in high school, as there was still a single Latin class being taught, but due to an aggressive honors schedule, this was not possible. The teacher was also thought to be senile, so many people avoided it on those grounds. I did have a few language arts classes that put some stress on understanding roots of words, so you pick up a couple of good things now and again. What I know has come in really handy in doctor’s offices. Anatomy and physiology are some of the last bastions of heavy Latin use, so many diagnoses are given in those terms.

Alice entered the world with seizures due to a stroke. As is common in Trisomy 21, Alice has a heart defect. She has an atrial septal disorder (ASD), which is a hole between the two atria of her heart. If it’s minor, which it appears to be in her case, it is not a problem in the short term and the course of action is to do nothing. They think that the stroke was due to a blood clot that broke free from the placenta, went through her ASD, up her carotid artery, where it broke into three pieces and lodged in three different places in her brain.

These are all scary things, so let me tell you that it paid off to have had fairly solid biology classes. Dismantling a dead frog may seem to some to be an act of cruelty, but I needed that to understand what had happened so that Alice’s mom and I could make good choices. It also helps that Alice’s mom used to design surgical tools used for cardiac surgery. What a coincidence, huh? It gets better – so where did this clot come from? I have a clotting disorder (as yet undiagnosed), but when a pediatric hematologist starts talking to you about possible causes, it’s good to have on hand the full knowledge of what has been ruled out: Protein C? No. Atnithrombin III? No. Factor V? No. Protein S? Low, but not abnormally so. And so on and so forth. Pretty big coincidence, but no correlation yet.

Where it comes in handy is when doctors rattle off lists of issues and you can pick up their real meaning. Bilateral rhinorrhea. I can’t tell you how many times we have to deal with that one. Of course, bilateral rhinorrhea sounds much better than “dual snot rivers”.

What happens when your newborn has had a stroke is that even though I know all the things that aren’t the cause of my clotting issue, they wanted my records, so I called up my old doctor’s office 3,000 miles away and asked about getting them sent out. They said, “sure that’ll take about 6 weeks.” Want to know how to get them to deliver the same day? Tell them your daughter is the NICU. Wins every time.

So we’ve learned about cardiac surgery, tympanograms, done sleep studies, learned how orthotics are made and designed, how to build strength on her stroke affected side, and on and on. It’s all necessary to try to figure out what’s best in both the big and the little picture.


Having a Child with Down Syndrome Part VI: Eugenics

Copyright © 2009 Steve Hawley, All rights reserved.

Eugenics is literally is “good product”. It was a movement that in the United States advocated for, among other things, the sterilization of those thought to be a “defective variety of the human race.” Those last words were from Alexander Graham Bell, who also thought that congenital deafness should be bred out of the human race. His influence was broad and though it started nearly a century ago, remnants of it are still with us. For example, the Clarke School for the Deaf in Northampton is considered to be one of the better schools in the country for the deaf, but at the influence of Bell who was on the board of trustees, made sure that sign language was forbidden. He wanted the deaf to better blend and breed out deafness. The Clarke School still insists on purely oral skills, which sounds a lot better than banning sign language, doesn’t it?

We are now in a new era. There are several early screening tests that are becoming routine that will indicate whether or not a developing fetus has Trisomy 21. Prospective parents are then often given biased information as to the possible future of their child. Yes, there are a number of things that are characteristic of Down syndrome – heart defects (repairable) are common, low muscle tone is common, Alzheimer’s disease is common in old age, and so on. Painted entirely in the negative, there is little hope. Yes there are other things not mentioned as often – childhood leukemia is higher than the general population – but so is survival of it. Breast cancer is almost unheard of, which is of huge interest to cancer researchers.

But that is really petty bickering and ignores the core of the issue. The argument for eugenics presupposes that someone with a disability has little or nothing to offer society because of possible or even probable side-effects of their illness or more gently, that the burden of their condition would outweigh the benefits they might offer.

This is a compelling argument because it tugs so heavily on the heart strings, but it is weak for the same reason. I have a condition that has made me very ill at several points in my life, and without appropriate medical management, it would probably leave me crippled at best. There are some indications that this is genetic. Had this been known before I was born, would it be valid to say that I should not exist because I would be more of a societal burden? This answer for me, I believe is a trivial ‘no’ and I think that there are many who would agree and very very few if any who would disagree. How can this argument apply differently for someone with a more obvious disability? The answer is ignorance and to a lesser degree prejudice. If you are ignorant as to the whole picture, then this argument appears to apply. If you have been prejudiced by a society that propagates a lack of value of people with Down syndrome then this argument appears to apply.

I don’t think I begrudge the decision that any prospective parent might make in light of Trisomy 21 screening as long as that decision was made with a fair and balanced view, which is rarely the case. If eugenics is committed out of ignorance, then eugenics is ironically bad.

I will leave you with a link to some work by Dr. Brian Skotko. I met Brian a few years ago when he was running a workshop of relationships among siblings where one of them had Down syndrome. It was fascinating and enjoyable. Dr. Skotko also did some research about how mothers in particular received the postnatal diagnosis of Down syndrome. Here is his reflection on that work. I think as much of it applies to prenatal diagnosis as postnatal.