Beyond Wanting to Know:
Thoughts on Pursuing a Genetic Diagnosis
by Hillary Savoie- Complex Child Emagazine
You
could say I had warning. There was the 20 week prenatal ultrasound
that showed several "anomalies." But when my limp barely-breathing
minute-old daughter was lifted from my arms, when they told me she was
being transferred to the closest NICU, when they said that it might be a
syndrome causing her problems, I was in denial.
She was fine. I just knew it.
And
I was right, because in time my definition of "fine" changed. Before
it seemed impossible to acknowledge that she might have a syndrome. We
told the doctors as much. We knew she had all her chromosomes, and we
refused further testing, despite protests from our family. We looked
for any excuse we could find for her apparently dysmorphic features: my
hands, my husband's ears, my mother-in-law's eyes. Now? Well, now we
no longer expect answers.
Now, we understand our daughter, Esmé, is exactly who she is...and we don't know what her future holds. And this has to be OK. We have no choice.
A Turning Point
For me everything changed that day in the Emergency Department. Until that day we had been maintaining. Although Esmé was
teetering on the edge of failure-to-thrive for her entire three and a
half months, she was a happy baby. And we had learned to deal with the
vast quantities of vomit, her unstable head and neck, and the stares we
received from strangers. But that day Esmé turned blue in my arms. She
had aspirated. Actually, she had been aspirating for months, a fact
that her many, many doctors all missed.
As
they all rushed to work on her limp body, one doctor asked, "Is she
otherwise healthy?" I was paralyzed. My mind ran through the multiple
anomalies associated with each of her ten doctors: heart defect,
hydronephrosis, poor feeding, low tone, and GERD. And I suddenly longed
for a one-word answer--22q11, Prader-Willi, Angelman--rather than the
convoluted narrative that explained my child's health.
I couldn't know it then, but that moment sealed my decision to have her tested for genetic conditions.
Testing and More Testing
After
my daughter recovered from her aspiration event (by way of two weeks in
the PICU, a Nissen, and a G-tube), we met with a geneticist. The
geneticist was pretty certain the diagnosis would be a chromosomal
disorder located at 22q11, so he just tested for that.
This
should be the end of the story, right? We make up our mind to test
and, boom, six weeks later we have a result? We were prepared for a
result of a 22q11 disorder when the genetic counselor called.
But
they found nothing. I said, "Nothing?" And the counselor said, "Yeah,
nothing. The doctor wants to go ahead and do the microarray. He feels
that even though it isn't 22q11, there is something."
Now
I knew all about the microarray. I understood that it was the most
comprehensive test available. It certainly would tell us what was wrong
with our girl. So we consented. And six attempts later, the nurse
finally drew the bare minimum of blood from Esmé's scalp, and off it
went to the lab.
This time I swore out loud to the counselor, "You've got to be kidding me. The test came back clean?"
At
first I felt fantastic relief as I now had confirmation that all of the
doctors were alarmists. All this time we were right. Nothing was
wrong with my baby. But this feeling was quickly replaced with
confusion as the counselor suggested further testing.
"Wait, the doctor wants to test for Prader-Willi? I thought we just tested for everything."
And
here was the deeply upsetting part of genetic testing that I was
unprepared for. I thought that the question was: to know or not to
know. But it is, for some people, just a first step. Each test was sold
to us as the test that would give us answers, but behind each of these
answers lurked the need for another, more subtle, more in-depth test.
First there was the chromosome count to identify a potential trisomy or
monosomy, then the microarray to identify other less apparent
syndromes. More recently there was the methylation test to look for
specific mutations that are too small for the microarray to pick up.
None of these tests has given us the answers that we are seeking. They
have found nothing remarkable. And yet our daughter still shows all
the signs of a child with a genetic disorder: hypotonic, severely
delayed, and slightly dysmorphic.
Now
they tell us that THE test is coming soon, the one that can read her
genetic material from one end to another. But I fear that there is just
yet another perfect test lurking behind that one, and then another, and
another.
Knowing When to Stop
So,
we are faced with a new question, one that seems frighteningly like a
demented version of the original question. Now it is: When do we stop
testing? And how?
People who are not weighed
down with the burden of this decision simply cannot understand. They
ask, why would you stop? Don't you want to know what's wrong with Esmé?
I try to explain the reasoning, breaking it down to three main
reasons: living with baited breath, Esmé's pain, and benefits. I
typically keep the fourth reason, a nameless fear of knowing and of
never knowing, to myself.
I
explain that this process could go on for decades. During this time we
could live our lives in six week increments, waiting for, hoping for,
and fearing the call. Both calls: the call with an answer and the one
without. All the while looking at Esmé like Cinderella trying on a set
of symptoms, a diagnosis, a future.
Esmé's
physiology makes the process of "just drawing blood" hellish. I
describe, often tearfully, that even when she is under for a procedure
it takes approximately six to ten attempts to draw her blood. When she
isn't under it means that I pin her down--I would rather it be me than a
stranger--while a nurse does a sadistic version of
pin-the-tail-on-the-donkey under my child's skin. It is awful--and
optional.
For all this pain, I ask, what
benefit does this testing provide my daughter? Yes, maybe there is
something more we can do for her once we know. Perhaps. But the
doctors more frequently tell us that it is about our peace of mind...to
help us "know what to expect." As if that was ever truly possible. As
if anything can or should ever be "expected" of a child. Our daughter
is who she is: happy, goofy, loving, social, and a bit of a dare-devil.
I do not expect her to be president, or a concert pianist, or a doctor.
But she may be any or all of these things. I hope for her health; I
pray for her happiness. And I enjoy every moment of her present.
Admittedly,
I do have a deep desire to search the ends of the Earth for any answers
about Esmé's health. It is a very quiet and private desire. I do want
to know. But I am not sure why. And I want to know even as I also know
that "knowing" may not offer us any relief. "Knowing" may mean that we
find some small mutation that no one else has and that may or may not
be significant. "Knowing" may mean more questions. Scratch that,
knowing certainly means more questions.
Honestly,
I am afraid to admit that I may still hope of proving that "it's
nothing" and that my daughter will grow out of her current
challenges--and into other, more familiar challenges. But I know that's
not possible. You can never prove a negative. Genetics can't answer
that question. Only time can.
Hillary Savoie is Esmé's Maman, This American Life scholar,
and a yoga nerd. In between organizing Esmé's schedule, yelling at her
insurance company, and corralling doctors, she spends her time playing
peek-a-boo, dancing with Esmé, writing her doctoral dissertation, and
breathing deeply.
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