Perfection

Perfection? Clare Hitchens I was going to begin by saying that the day Russell was born was a day that changed my life forever. Technically, though, that’s not true. We remained blissfully unaware for almost a full year that Russell was not “perfect.” When he was born, the delivery doctor had a suspicion of Down syndrome and asked the pediatrician on call to have a look. Only after he had decided that she was wrong did they come and tell me they had “checked him over, but not to worry—he’s fine.” I was quite happy to accept their diagnosis and I put it out of my mind. Not once in the following months did I think that they could have been wrong and it never came up at monthly doctor appointments. At Russell’s one-year check-up my family doctor confessed that she’d been “keeping an eye on him” and she’d like to send him for blood tests to confirm Down syndrome. This happened in the course of a regular check-up, without Russell’s father present, and in front of my other two children. To say I was dumbfounded is an understatement. Russell had been delayed in his development, but not noticeably so, at least to me. The tests were done. Results were positive. Russell has Down syndrome. Specifically, Russell has Robertsonian 14:21 Translocation, which combination of chromosomes accounts for about four percent of people with DS. This last detail is important because in one-third of these cases, DS is a direct result of a balanced translocated chromosome from either mother or father and can impacts substantially on the incidence of subsequent children having DS. If the mother has passed on the translocation the odds are 8 – 1 in favour of reoccurrence and if the translocation comes from the father, 40 – 1. We were whisked off to McMaster Medical Centre for genetic testing. This seemed to be supremely important to all doctors involved. How did this happen? What are the chances of it happening again? Blood was taken from both Russell’s father and me and all the karotype possibilities were lain out before us. The mood was somber and I remember feeling vaguely confused, as well as a big angry, but couldn’t find a voice to express that.

As is turned out, neither Les nor I were responsible for Russell’s Down syndrome. All medical staff breathed a sigh of relief. Our chances of having another baby with DS were now the same as any other family having one child with DS; that is, 100 – 1. We returned to see the pediatrician who had misdiagnosed Russell at birth. He was extremely nervous, spending a lot of time listening to Russell’s heart; apparently he has a murmur which alarmed the doctor. About forty percent of children with DS are born with a congenital heart defect, usually surgically repaired, often in the first year of life — an opportunity that had passed us by. About twenty minutes into the appointment, after watching the doctor shake and stutter, I said, “You know, Dr. Jones*, I am not going to sue you.” He looked embarrassed but visibly relaxed. I couldn’t believe it. Here we were, trying to find out the medical needs of our baby and he’s shaking in his boots in fear of a lawsuit. I changed pediatricians shortly afterward. Russell’s heart turned out to be fine and, on the whole, he is a very healthy and happy little boy. While it would be wrong to say his birth changed my life, certainly the experience of being his mother has. My experience with the medical profession had left me quite angry and led me to advocacy. Through Russell’s needs I found a voice to speak up. This continued when Russell started school and it served me well when I was pregnant with my youngest child. Having another child was something that I had been wrestling with. I strongly believed that a younger sibling would be good for Russell. To be the youngest in the family and “special” might put too much focus on him. Most people, when I described my struggle, thought I was crazy. Having a fourth child was seen as self-indulgent and the question always came up, “What if you have another one?” This came from people I love, who love me. My doctor was fairly blunt in her advice to quit while I was ahead (my paraphrase of her general reaction). Still, the pull was strong and I did become pregnant again. Immediately, medical testing became an issue. Never before had I had any sort of screening test but suddenly it was required. I said, “No.” By then, my doctor had given up on me and didn’t pursue it but I did have to sign a form saying I had refused testing. My entire pregnancy had a kind of surreal feeling. Complete strangers, seeing me with Russell would question my decision to have another child. I got tired of defending what I though was a personal decision and I eventually

stopped and resorted to blank stares of incomprehension which made them uncomfortable enough to go away. A few years ago, Chatelaine magazine ran a feature called, “Making the Perfect Baby.” It was fairly balanced but the comments of one woman incensed me enough to write a letter to the editor, a much edited version of which was printed. The argument for testing, put forth by couples in the article, was the early detection of abnormality for easier termination or treatment. There have been a few cases where pre-natal diagnosis of Down syndrome and related health issues has led to live-saving medical interventions. However, current statistics show the rate of termination in pregnancies where the fetus has been diagnosed with DS is more than ninety percent. Clearly, this is the main reason why there is a push for earlier and earlier testing. As a parent it makes me sad, not because I don’t believe in reproductive choice, but because Russell has brought me so much joy. Almost every family I know that has a child with DS talks of the huge amounts of love and joy that surround their child. It saddens me that Down syndrome is still seen as such a deficit that more than ninety percent of people choose not to bring a baby diagnosed with DS into the world. Recently scientists completed the Human Genome Project, mapping out the genes on each chromosome. The medical field is very excited about this and the possibilities it brings to research and treatment implications. “Gene therapy” is a buzz phrase that many people are touting as a means to cure all ills. Down syndrome has been mentioned. While gene therapy is not yet available or even implicated for the “cure” of Down syndrome, just the idea opens the door to many questions that have previously been unanswerable. If I could reduce the challenges faced by my son as a result of his having DS without risky and intrusive treatment, I wouldn’t think twice. It has been my life’s mission to facilitate the best life possible for him and I work on it every day through advocacy and education. However, the idea of erasing Down syndrome from Russell, from removing all characteristics belonging to Down syndrome, but not to Russell, seems impossible to me. He is whole person, not a sum of his parts. How do you separate his goofy personality and his huge capacity for love from his terrifying, complete lack of fear of strangers? The latter is a result of his limited intellectual abilities, which may or may not impact on the former. If you remove the intellectual challenge, does the same person remain? I don’t know. Is it even fair of me to impose on Russell my wish for him to stay as he is? How do his rights

figure into it? These are very hard questions and, in a way, I’m glad that I won’t have to answer them in my lifetime. It’s been a few years since I wrote my highly indignant letter to Chatelaine magazine and I’ve had some life altering experiences that have helped me to see more than one side of an argument. However, I find my position on genetic testing unchanged. The focus of eliminating imperfection saddens me. In my opinion as a parent of a child with a developmental disability the increasing amounts of money spent on early diagnosis would be better spent on the education of children, the health needs of children and the education of society towards acceptance of difference. As for Russell, I think I was right almost ten years ago when I thought he was perfect. He is.