Perfection?

Clare Hitchens

I was going to begin by saying that the day Russell was born was aday that changed my life forever. Technically, though, that’s not true.We remained blissfully unaware for almost a full year that Russell wasnot “perfect.” When he was born, the delivery doctor had a suspicionof 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 tellme they had “checked him over, but not to worry—he’s fine.” I wasquite happy to accept their diagnosis and I put it out of my mind. Notonce in the following months did I think that they could have beenwrong and it never came up at monthly doctor appointments.At Russell’s one-year check-up my family doctor confessed thatshe’d been “keeping an eye on him” and she’d like to send him forblood tests to confirm Down syndrome. This happened in the course of a regular check-up, without Russell’s father present, and in front of myother two children. To say I was dumbfounded is an understatement.Russell had been delayed in his development, but not noticeably so, atleast to me. The tests were done. Results were positive. Russell hasDown syndrome. Specifically, Russell has Robertsonian 14:21 Translocation, which combination of chromosomes accounts for aboutfour percent of people with DS. This last detail is important because inone-third of these cases, DS is a direct result of a balancedtranslocated chromosome from either mother or father and canimpacts substantially on the incidence of subsequent children havingDS. If the mother has passed on the translocation the odds are 8 – 1 infavour of reoccurrence and if the translocation comes from the father,40 – 1.We were whisked off to McMaster Medical Centre for genetictesting. 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 karotypepossibilities were lain out before us. The mood was somber and Iremember feeling vaguely confused, as well as a big angry, butcouldn’t find a voice to express that.

As is turned out, neither Les nor I were responsible for Russell’sDown syndrome. All medical staff breathed a sigh of relief. Our chancesof having another baby with DS were now the same as any other familyhaving one child with DS; that is, 100 – 1.We returned to see the pediatrician who had misdiagnosedRussell at birth. He was extremely nervous, spending a lot of timelistening to Russell’s heart; apparently he has a murmur which alarmedthe doctor. About forty percent of children with DS are born with acongenital heart defect, usually surgically repaired, often in the firstyear of life — an opportunity that had passed us by. About twentyminutes into the appointment, after watching the doctor shake andstutter, I said, “You know, Dr. Jones*, I am not going to sue you.” Helooked embarrassed but visibly relaxed. I couldn’t believe it. Here wewere, trying to find out the medical needs of our baby and he’s shakingin his boots in fear of a lawsuit. I changed pediatricians shortlyafterward.Russell’s heart turned out to be fine and, on the whole, he is avery healthy and happy little boy. While it would be wrong to say hisbirth changed my life, certainly the experience of being his motherhas. My experience with the medical profession had left me quite angryand led me to advocacy. Through Russell’s needs I found a voice tospeak up. This continued when Russell started school and it served mewell when I was pregnant with my youngest child.Having another child was something that I had been wrestlingwith. I strongly believed that a younger sibling would be good forRussell. To be the youngest in the family and “special” might put toomuch focus on him. Most people, when I described my struggle,thought I was crazy. Having a fourth child was seen as self-indulgentand the question always came up, “What if you have another one?” This came from people I love, who love me. My doctor was fairly bluntin her advice to quit while I was ahead (my paraphrase of her generalreaction). Still, the pull was strong and I did become pregnant again.Immediately, medical testing became an issue. Never before had I hadany sort of screening test but suddenly it was required. I said, “No.” Bythen, my doctor had given up on me and didn’t pursue it but I did haveto sign a form saying I had refused testing. My entire pregnancy had akind of surreal feeling. Complete strangers, seeing me with Russellwould 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 madethem 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 muchedited version of which was printed. The argument for testing, putforth by couples in the article, was the early detection of abnormalityfor easier termination or treatment. There have been a few caseswhere pre-natal diagnosis of Down syndrome and related health issueshas led to live-saving medical interventions. However, current statisticsshow the rate of termination in pregnancies where the fetus has beendiagnosed with DS is more than ninety percent. Clearly, this is themain reason why there is a push for earlier and earlier testing. As aparent it makes me sad, not because I don’t believe in reproductivechoice, but because Russell has brought me so much joy. Almost everyfamily 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 Downsyndrome is still seen as such a deficit that more than ninety percentof 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 veryexcited about this and the possibilities it brings to research andtreatment implications. “Gene therapy” is a buzz phrase that manypeople are touting as a means to cure all ills. Down syndrome has beenmentioned. While gene therapy is not yet available or even implicatedfor the “cure” of Down syndrome, just the idea opens the door to manyquestions 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 thinktwice. It has been my life’s mission to facilitate the best life possible forhim and I work on it every day through advocacy and education.However, the idea of erasing Down syndrome from Russell, fromremoving all characteristics belonging to Down syndrome, but not toRussell, seems impossible to me. He is whole person, not a sum of hisparts. How do you separate his goofy personality and his huge capacityfor love from his terrifying, complete lack of fear of strangers? Thelatter is a result of his limited intellectual abilities, which may or maynot 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 toimpose on Russell my wish for him to stay as he is? How do his rights