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.