DNA: Stories about genetics
It’s almost magical how a combination of just A, C, T, and G entirely determine who we are. In this week’s episode both our storytellers look at how their genes impact their lives.
Part 1: Kristen Williams unexpectedly finds herself attending a family reunion after taking a DNA test.
Kristen Williams is a Navy veteran and a Senior Business Manager. She loves storytelling because it allows her to relive the most impactful moments in her life, from her deep south upbringing, military life, and professional experience. She lives in Seattle with her cat, Cami.
Part 2: After several miscarriages, Joanne O’Meara turns to genetic testing for answers.
Joanne O’Meara grew up in Toronto but moved away at the age of 19 to go to McMaster University. After traveling around for a few years, she and her husband put down roots in Fergus, Ontario. They both work in the Physics Department at the University of Guelph, while raising two amazing young women. When she’s not teaching or learning about teaching, she’s outside enjoying nature, on snowshoes, in a kayak, or just sitting in the sunshine with a good book.
Episode Transcript
Part 1
I grew up in a small city in North Alabama. The sprawling Tennessee River bordered the northern edge of town and factories lined up along the river. It's the type of place where you can still make a good living driving a forklift and working men took pride in doing just that. Everyone in town knows one another but I only know half of myself.
My mother's side, full of spunky adventurous women who don't always behave. As much as I identify with that profile, I always wondered about my father and his family and what traits I took from them. I tell myself that his intent is not to be absent forever and, one day when the time is right, he'll come find me and we'll catch up.
As I get into adulthood, I start to shift my thoughts on my identity from being centered around my immediate family to being more focused on my generic heritage. So I order one of those online DNA tests so I can determine my true African roots.
I get the little kit in the mail and they have this little vial the size of a baby carrot. I fill the vial up with saliva and some blue juice for stabilization. I ship it off to the lab and I wait. Six weeks later, I get my results and I am from like everywhere in West Africa and not enough of one single place to really call my own.
Three years passed and I have long ago forgotten about this DNA test when I get an email from the company saying that they've matched me with a second cousin, Jan Fletcher. Fletcher is my father's last name and Jan lives in the town where I grew up. I give it a little thought and I shoot her a message to introduce myself.
A couple days later, I'm at work trying to kick out this report before my next meeting and all I hear is bzz-bzz. My phone is blowing up. All Facebook notifications, and I don't even use Facebook like that.
“Welcome to the family, cuz. Can't wait to meet you.”
I had been added to the Fletcher Family Facebook page. To be clear, I did not ask for this. Then I see my email where Cousin Jan has invited me for a phone call. At this point, I'm like, “Do I even have a choice?”
I'm looking at Cousin Jan's Facebook profile when she calls me and she has a really big bright smile and an even bigger, brighter personality. She gives me the rundown of the family history. Who's who, the good, the bad, the ugly. And then she says to me, “I was surprised when you told me your father's name because, well, he's not the type of man that you'd expect to have outside children.”
I said, “Well…” I told her about that time when I was about four years old and my mama drove me to this place downtown where a nice lady drew blood from my arm and then drew blood from his arm. And because I was a big girl and I didn't cry, he bought me a grape soda out of the Pepsi machine.
And then the checks started coming in, $34.87 every single week. And then it reduced to every other week and, eventually, monthly, as I assumed my cut was being split with other outside children.
“Okay, cousin. Well, we're having a family reunion and a barbecue in June. Everybody wants to meet you so I hope to see you there.”
“Should I barge in on this man's family event?”
“Well, the DNA said that you're my cousin and the DNA doesn't lie, so technically it's your family event too.”
I intentionally did not commit in the moment but Cousin Jan reached out to me a few days before the event and confirmed my attendance. It felt like life was giving me my own little Matrix blue pill/red pill moment. The blue pill is my assumptions. Maybe he didn't mean to be absent forever. Months just turned into years, years turned into decades and time just got away from him.
But if he met me, he'd love me and he'd run up to me and embrace me and tell me how much he missed me and that he loved me.
And then there's the red pill, the truth. Maybe he never wanted me. My existence to him could be a consequence of his lust and lack of self-control. He may have reduced me to an 18‑year financial obligation that he had long ago paid for. It's possible that in 30 years not only does he not miss me but he doesn’t love me.
I chose the red pill and I jumped in my little compact SUV and drove back to that little city in Alabama where I grew up. And the picnic was at the park that bordered the Tennessee River. I was immediately greeted with hugs and far fewer questions than I expected.
Cousin Jan grabbed me by my wrist and pulled me behind this long wooden picnic table and it was full of big metal pans full of meats and all the trimmings you could imagine. We fixed plates for the elders and then for the children and then for everybody else.
I remember thinking to myself, “I like these people and it feels like they like me too.”
Then word got to my father's new wife that I wasn't just a random reunion crasher and she called me over to their table to ask me questions. Awkward.
I slowly walked about 50 feet to their table trying not to make eye contact, because this doesn't have to be weird. This is a reunion and at reunions people reunite, right? It's been 30 years. He's probably a really nice man. Why wouldn't he be?
So there I stood on the other side of a wooden picnic table staring down at my round face and my heart‑shaped lips, my pudgy nose, all on a man who I did not recognize from my few distant memories.
But I did not see his eyes because he would not look up at me. And I did not hear his voice because he would not speak to me. Of course, I could have said something to him but, I mean, really, what was there to say?
It stung and I had to go about the rest of the day pretending everything was okay. It wasn't.
Over the next few months, I sank into a deep dark valley of grief. And then I got mad at myself for even caring so much. And when I finally got the strength to start clawing my way out of the darkness, bzz, a Facebook notification. It was from my father's twin brother and it was a video message that only said four words. “Happy birthday. Love you”
That was followed by text messages and phone calls not just from my uncle but from my cousins. They were willing to give me as much love as I was willing to accept. And knowing how much I desperately needed that love, I decided to receive it because, after all, it wasn't the DNA that made them my family, it was the love.
Thank you.
Part 2
It's a gorgeous spring day in 2007. My two-year-old daughter Hannah and I are happily playing in the sandbox in our backyard when the phone rings. It's my doctor's office with results from my prenatal ultrasound last week. It's showing an unusual thickness of tissue at the back of my baby's neck. This could be something serious like Down Syndrome.
My heart sinks as I try to hide my reaction from Hannah. My miscarriage several months ago is weighing heavily on my mind.
My husband Carl and I head down to the genetics clinic at McMaster for follow-up. The next step is CVS, chorionic villus sampling to check my baby's DNA.
As they prep me for the procedure, the ultrasound tech looks at me in dismay. He can't find a heartbeat.
I just want to go home, curl up in a ball and grieve, but the scientist in me wants data. So we convinced the team to go ahead, even though it's too late for this little one.
I focus on taking deep breaths while a long thin needle is inserted into my belly. Silent tears stream down my face. So much for my attempt to switch into detached scientist mode. But it's worth it because the test shows that the baby did have a genetic abnormality. Pieces of chromosome 7 and chromosome 11 were tangled up together with not enough of one and too much of the other. It's called an unbalanced translocation. This could be a random fluke or it could be something inherited, so we have our own DNA tested.
A few weeks later, we find out it wasn't random. One of us carries a balanced translocation. So instead of having two normal copies of 7 and 11, one of us has one normal copy of each and one piece of 7 with some 11 attached, and one piece of 11 with some 7 attached. All of the DNA is there. It's just mixed up.
A balanced translocation is perfectly harmless, until we try to have children. The problem is the baby has a 50/50 chance of inheriting a complete combination of 7-11 or an incomplete combination of 7 and 11. In other words, we have a 50/50 chance of conceiving a healthy baby or having another miscarriage. Add to that all the other ways a pregnancy can end in miscarriage. And we were facing a coin toss, with a coin weighted against us.
As I turn 35, my odds of conceiving are just getting worse with every passing cycle, but Carl and I are very close to our siblings and we desperately wanted Hannah to grow up with a baby brother or sister. We were not ready to give up.
With scientific precision, I track all aspects of my cycle. Our life is segmented into 28-day intervals. Intimacy becomes all about timing.
Two months later, I conceive again. Standing in the bathroom at 6:00 a.m. with my pregnancy test in my hand, my reaction is complicated. I should be excited but every trip to the washroom, every little twinge and I'm worrying that I've tossed another tails. Would we beat the translocation this time?
No. This pregnancy ends at nine weeks. The next one, six weeks. After months of trying to conceive again, my family doctor refers us to a fertility clinic. With their help, I conceive again immediately, but this pregnancy also ends at nine weeks, miscarriage number five.
Three more pregnancies follow, three more miscarriages. Eight consecutive miscarriages and we are no closer to expanding our family. I am bone weary month after month of injecting myself with high doses of fertility drugs, countless early morning trips back and forth to the fertility clinic in Mississauga, not to mention the incredible emotional toll.
I'm about to turn 40, but the ticking clock does have one upside. Our doctor tells us about a new technique that he wants us to try. This could possibly be our way around the translocation.
As he steps us through the procedure, I feel like we're starring in a sci-fi drama. Egg retrieval takes place on May 18, 2010. Eight are successfully fertilized. Three days later, a single cell from each embryo is extracted and sent by courier to Livingston, New Jersey to a lab for testing. Each embryo will be checked for the translocation before it's transferred to my uterus.
Two days later, we're in the fertility clinic anxiously awaiting the results. The verdict, one out of eight embryos is cleared for transfer.
I'm wheeled into a sterile procedure room, covered in a surgical drape, mildly sedated and our single viable embryo is transferred to my uterus. Ten days later, I go back to the fertility clinic for my pregnancy test. Negative.
Round two, my doctor amps up the fertility drugs even more and this time we fertilize ten eggs. When we return for transfer, the report comes from across the border. Two are clear. Both are transferred and we wait. Wait and wait. Ten long days spending every moment of every day wondering if we have finally won the coin toss.
I go back for my pregnancy test. This time, it's positive.
I should be happier. I should be happier in this moment than any other. The test is positive and we know for sure the baby doesn't have the translocation. What is wrong with me? But even the state‑of‑the‑art approach isn't enough to ease my fears. The heartache of eight consecutive miscarriages has overwhelmed my rational mind.
As we move further into the second trimester, I start to allow myself to relax a little. It's now 18 weeks and time for my detailed anatomical ultrasound. At my next visit with my family doctor, she turns the computer monitor to show me the latest development.
Written in capital letters ‘vasa previa’. The blood vessels that connect my baby to the placenta could easily rupture when my water breaks.
She's immediately transferring me to the high-risk pregnancy team at McMaster. I will now spend the last six weeks of my pregnancy confined to the prenatal ward at Mac about 100 kilometers from Carl and Hannah.
With vasa previa, there's no immediate risk to the baby, but spontaneous labor has a high chance of fetal death.
Banished to Hamilton, my only responsibility is to keep myself from worrying too much. Amazing family and friends come and visit me as often as they can. I pace the halls listening to countless podcasts. My former PhD supervisor wanders across campus once a week for tea in the café with me. My mother-in-law prepares a full Christmas dinner and brings it to the ward to share all together as a family. My dad, who's here tonight, would frequently bring me books from the library.
I taught myself to knit. My first project, a baby blanket.
Monday, February 7, 2011. We have finally made it to 35 weeks and it's time to deliver my baby before I go into labor. The night before our scheduled C-section is excruciating. One moment, euphoria. The next moment, panic. I'm exhausted before we've even begun our big day.
But that exhaustion washes away as we prepare for delivery. Carl is beside me in scrubs. There's a worried anticipation look in his eyes as he squeezes my hand. I try to imagine the nervous smile hiding behind his surgical mask.
I managed to hold my emotions together until precisely 11:06 a.m. when the hush in the room is flooded by the sweetest sound of all, the unmistakable wail of a newborn baby after taking her first breath. My own wail escapes from me as if in call and response to my beautiful baby girl.
Her first name is Mara. Her middle name is Hope.