Someday, I thought, someday someone will ask me about genetic
testing and DNA banking and they won’t be talking about science. Someday when
someone asks, they will know that they are asking about my sons.
Today is that day.
A letter came from PreventionGenetics asking me for my
story.
“PreventionGenetics is looking for personal stories or
testimonials from our clients who have recently withdrawn a DNA sample for the
purpose of testing,” the letter reads. “Your feedback will help us reach people
who have never heard about DNA banking.”
It seems strange to share my story for marketing purposes,
but DNA banking and genetic testing defines such a huge part of who I am. My
boys, my grief, my struggle, my role as a genetic cautionary tale – those things
define me more so than my life roles as a writer, a mother, a wife, a daughter,
a granddaughter or a friend.
DNA banking isn’t the beginning or the end of my story. It’s
just a milestone, a decision that I made minutes before my surgery with John. I
held my husband’s hand as the genetic counselor asked if I wanted to bank John’s
DNA.
“Give him your credit card,” I told my husband. “Do it now
before I go into surgery. Do it NOW.”
The GC, who had asked so sheepishly, so quietly, stared at
me for a second before I snatched the pen from his hand and scribbled my
signature on the form. Later I was told that most mothers in my situation –
grieving a child, going into surgery, uncertain of the future – shy away from
DNA banking. Maybe it’s more grief, more decisions. I know I felt anger at
anything and everything medical for a while, under the veil of my grief and the
rationale that nothing would bring John back to me – so what’s the point? Why
eat? Why sleep? Why care? Why deal with more paperwork and more insurance
representatives and doctors and nurses and needles?
The truth is, we had gone through “every” genetic test –
they all came back normal. In that moment, I didn’t know about whole exome
sequencing. But I knew that I wanted answers, and if answers came in 10 or 20
or 30 years, then that’s when I would get those answers.
To the wall, remember? I was going to take this to the wall
for my babies. And I did. And it started with my signature and my husband’s
MasterCard. It started the moment I decided to bank John’s DNA.
It was Drew’s exome that gave us the big answer of
Congenital Disorder of Glycosylation 1G, but having John’s DNA meant that the
scientists at Baylor could confirm John’s genetic disorder, too. Knowing the
answer for both of my boys has brought me more peace that I can adequately
express on any blog or to any counselor or doctor.
Knowing the killer genes was important to me, and that was
my focus in the four months it took for the exome results. Being able to say “Congenital
Disorder of Glycosylation 1G” is a gift. But the true value of the answer came
awhile after April 11, 2013 (Exome Day). I know so much about my boys – the boys
I will never truly know – because of that diagnosis. I know they were blind and
deaf. I have a description of their faces instead of just fuzzy ultrasound
photos. I know that they weren’t in pain, but that they would have been born to
pain. My choices for them are validated in my heart. I carry the emotional pain
of my decisions with me so they would never have to feel even a second of
physical pain. Their memories are of the feel of my body and the vibration of
my voice.
My quest for answers somehow brought me all the peace anyone
could get out of my tragedies. Looking back, the moment I signed the DNA
banking form was pivotal in the diagnosis, sure, but it was also a milestone in
my grief journey – a journey I will take my entire life.
So yes, PreventionGenetics, use my story. I know that I am
the beneficiary of brilliant genetic research done by compassionate people at
both Baylor College of Medicine and The Cleveland Clinic. I know that there are
mothers who don’t have the very human benefit of those brilliant people, for
everything from expert genetic counseling to holding their hands during invasive
testing, always having a tissue for their tears, and to share their “to the
wall” commitment to answers. They may not have a genetic counselor with a form
and a pen to help make answers possible.
Use my story, PreventionGenetics, and help those women take
it to the wall for their answers. They won’t regret it.
