The Risky Business of Reproduction

In a Sheraton suite in Indianapolis, I swiped Fiona’s cheek ten times with a cotton swab that a technician then dipped in a blue solution and sealed for the labs. Scientists will examine the cells of my daughter’s cheek, look closely at all the chromosomes, map the genes as best they can, and tell us how big her deletion is and what she’s missing. How big, what’s she missing? Right now, I don’t care. The results won’t tell us much yet, not until the field of genetics advances, so the cotton swab is more for the doctors and the scientists who look carefully at chromosomes and learn cool things about them and give the genes names as meaningless to me as the numbers they assign to distant stars.

Afterward, my husband and I met with Dr. Amy Calhoun, the assistant to the geneticist who was spear-heading the studies, and she asked if we had any questions. I did. Though my daughter’s future is still a wide-open field of blooming, poppy-colored question marks, her past according to the field of genetics is clearer, and I wondered, as is my penchant, about that past. How did this happen? And I wasn’t settling for the simple answer I got from our wonderful geneticist—that the deletion came from either the sperm or the egg or just shortly after conception. No, I wanted a more thorough story of chromosomal deletions.

What Dr. Calhoun told me dramatically changed the way I see Fiona and all genetically inherited disabilities.

“Chromosomes don’t get passed down in their entirety,” she said, sitting humbly on a hotel bed while Justin and I occupied nice chairs. We were at a conference for kids with Fiona’s syndrome. “Justin doesn’t have a whole chromosome from his great grandfather, for instance. He has bits of chromosome 1 from this person, and bits of another chromosome 1 from that person.”

Then Dr. Calhoun explained that, in order for Justin’s chromosome 1 to pull from a smorgasbord of ancestral chromosome 1’s, reproductive cells undergo a tricky little dance. I’d later learned that this is called meiosis, and that it’s a bit more complex than Dr. Calhoun explained to me. But this is the gist: at some point in the creation of reproductive cells that become sperm and egg, chromosome 1 from a person’s dad finds chromosome 1 from his mom, and chromosome 2 finds chromosome 2, and onward. Each corresponding chromosomal pair now does a little intertwining dance. Dr. Calhoun raised her two index fingers, stuck them together, and wrapped them around one another like snakes. They get tangled. They get stuck together. And then, in biological craziness, they rip apart.

That’s what Dr. Calhoun told me: “They rip apart!”

“You can already see the issue, right?” she asked with wide eyes. And I nodded vigorously. I knew where she was going: anytime they rip apart, there’s risk that a chromosome will have too little of what it needs, or too much.

I was shocked. Every human on the planet was a result of this makeshift process of creating? It seemed like a miracle we were all mostly symmetrical beings. What a bold move on nature’s part. What dice-rolling. What—some would say—ballsiness.

Why be so messy? Why not just keep the chromosomes whole? This is where things get really cool, at least to a nerd like me. Because the process maximizes diversity.  So that each person is 100% unique. So no two are alike. So some of us are immune to lethal plagues. So some of us are tall, short, fast, slow, good with numbers, allergic to wheat, nonverbal, uber-social, flatulent, fierce, whatever it is. Biology wants a wild mix.

I sat there in a suite on the 11th floor of a Sheraton, my mouth hanging open, knowing that Dr. Calhoun didn’t have a clue as to how this bit of information was blowing my mind. I was ah-mazed.

On and off, for Fiona’s entire 13-month long life, I’d been sometimes blaming myself for her syndrome. Why did I encourage us to start trying for a baby a month before we’d originally planned? If we’d just waited another month, maybe Fiona wouldn’t have WHS. Then again, we probably wouldn’t have a Fiona. We’d have another person. And I loved Fiona. So that logic gets screwy. But my brain went there regardless—the “What if I had done things differently” train. The “I have control over the universe and so I am to blame” train.

This track isn’t useful and I’d often talked myself off it. Fiona is a gift. Fiona is perfect as she is. Fiona’s “imperfection” is only a subjective perspective of the able-bodied worldview that fails to see the value of her giggle-laden life. True and true and true.

But when Dr. Calhoun explained the sticky, rip-apart mechanics of new chromosome creation, the stubborn remnants of self-blame that I’d done my best to weed out dried up completely. I was not to blame for Wolf-Hirschhorn Syndrome. If anyone was responsible, it was biology and its need for “diversity,” and who could blame diversity, with its wild spontaneity and intrigue, with its variation and uniqueness and artfulness. With its Muppet-Show assortment of tall and short and brown and beige and fat and skinny and blond and brunette and gay and straight and introverted and extroverted and on and on and on.

It was a golden moment. An eye-opener. I can still see Dr. Calhoun’s two index fingers mock intertwining, and then untangling again.

And then she explained that, actually, we all probably have deletions. Miniscule, benign deletions. But there’s so much redundancy in the genes that it usually doesn’t matter. Fiona’s matter. Fiona’s are visible when someone smashes her cells and sorts through the ramen-shaped chromosomes and notices that, oh look, right there, one chromosome 4 is missing its little cotton ball on top.

So now, after our meeting in a Sheraton suite with Dr. Amy Calhoun, I think this: Fiona is a work of art brought on by a dubious method of creation. And as a creator myself, I’m pretty used to methods of creation being somewhat haphazard. The overly wrought third draft of a chapter after months of slaving away at the computer. The inspired, streamlined first draft of a poem scrapped together on a napkin in a bathroom stall. It’s not my fault that Fiona is missing the cotton ball top on one of her chromosome 4’s. It’s due to the gorgeous risk of creation. And in some ways I feel like we’re all kind of indebted to it, and therefore to her.

The Olympics have been airing, and now when I see the super-able-bodied runners and swimmers and hammer-throwers and polo-players, I see them as a part of a larger equation that Fiona is a part of, too. I see that all of them need each other to complete this equation. It is the same equation that creates Einstein and your great aunt Haddie and the world’s 100 meter gold medalist and me and you.

Some would say it’s God. That God works through biology to make the diverse fabric of humanity. That the divine ether that hums and throbs and echoes and envelopes every little molecule guided a portion of Fiona’s chromosome 4 to come off. Or guided the sperm missing that part of its chromosome 4 to find the egg. Or guided a sperm to thrive in its fertilization of an egg which had a somewhat wonky chromosome 4. So some would say Fiona’s WHS was divine inspiration. That’s another way, I suppose, of putting it, but I’m in no condition to say what God is or isn’t, what God does or doesn’t, especially after watching Justin read Meister Eckhart to Fiona this morning, in particular a passage where Eckhart essentially argues that one can’t define God. God isn’t this, and God isn’t that, so one best shut up about God, says Eckhart. Justin read this to Fiona and then looked up between sentences, and she giggled and gave him a smile.

Here’s a gratuitous shot of the adorableness that sticky chromosomes/God created:


19 thoughts on “The Risky Business of Reproduction

  1. You’re killing me with this photo, you know, right? KILLING ME! It is really interesting to read your reaction to talking to the geneticist, having majored in biology and taught it as well. Teaching genetics is one of my most favorite aspects to science- it never stops blowing my mind either! When you think about the billions of bases within your chromosomes, the fact that it so often goes off without a hitch is unbelievable. But yes, chromosomes are always doing a little square dance, changing partners, sometimes several times per strand, mixing things up for the sake of diversity, and then separating altogether when forming sperm and eggs. You can have whole chromosomes fail to separate, so that an egg/sperm has double the genetic material, or half the amount. And she was right- so much of the DNA doesn’t code for anything, and there are multiple genes that are responsible for any given expression, so some may be missing part or have extra and it’s no big thing. I’m glad that having this insight has allowed you to let go- I wish I had known you were stuck in that mindset- I would have offered that info up ages ago!
    Also, interestingly, I just read that it is often only moms that go through that ridiculous “This must be my fault” routine and that the dads often more quickly move past without stopping to consider that road. Maybe it’s millennia of sexism. Maybe it’s genetic?

    • Becky, Square dance! I love that.

      I do think moms are more prone to the “my fault” thinking. I don’t know what it is. Something biological? The act of carrying? I think it’s deeper than self-inflicted sexism… or I like to think so.

  2. I am so very thankful and grateful that biology, God directed in my opinion, created my beautiful Grandaughter as she is. She is precious, unique and complete in everyway. A gift beyond compare, just as my other Grandchildren are in their unique personage! Thank you Heather and Justin

  3. Thank you for a beautiful post~ although I had the genetics described to me in Indianapolis, as well, your perspective is so enlightening and uplifting! Are you referring to Eckhardt Tolle? If so, I am a fan of his life philosophies, as well~ I hope you don’t mind if I share this for others to read. ❤

  4. Another great piece, Heather. My favorite part: “Because the process maximizes diversity.  So that each person is 100% unique. So no two are alike. So some of us are immune to lethal plagues. So some of us are tall, short, fast, slow, good with numbers, allergic to wheat, nonverbal, uber-social, flatulent, fierce, whatever it is. Biology wants a wild mix.” A wild mix, indeed. Really would we want it any other way?

  5. Heather, you have put such a complicated science so simply and beautifully. I love that your mother has been sharing the journey of your family with me. Fiona is absolutely beautiful!

  6. Wonderfully written Heather. The dance of DNA explained so very well. The miracle of life is truly that isnt it ?! It also took the birth of my son for me to have these very same great epiphanies. It was neither my husband’s or my FAULT (that damn word) that Zane had 4p-, it was our blessing. Our geneticist took us off that run away train of thought as well. Yes, our children are missing some genetic material, it must contain spite and mean-spiritedness and anger and discontentment… because these are things Ive never seen in a child with 4p- (unless poked with a stick- of course). I am grateful each and every day now for my ability to swallow and regulate my temperature and digest my food- I no longer worry (as much 😉 ) if Im not stunning without makeup or no longer bikini material – I am pretty damn amazingly healthy and whole, so I am happy. Thanks for putting it all in perspective. Namaste.

  7. What a beautiful way to put this! My friend’s daughter has this chromosomal disorder and she shared your writings. As the mother of a lost daughter who was only born with half a heart, I question all of these things as well. Your words are so thoughtful and loving at the same time. What a beautiful journey it is.

  8. I am speechless but my 6 year old daughter Natalie can speak for me, she asked me this week, ‘mommy was I as pretty as Fiona when I was a baby?’. I said yes of course, you were beautiful and she said ‘I don’t think so, Fiona is the cutest baby that I have ever seen, why can’t all babies look like her’.

  9. What a lovely piece, Heather! I was one of only 2 people in SC to get polio the year I got it and my very young Mother had no idea what she was in for, but she loved me anyway. Fiona is a darling child and blessed to have you and Justin as parents.

  10. Someone posted this on the CDO facebook page, and I am very inspired by your beautiful writing. I shared it with two other people, before I got through the entire post. I think my favorite is: “Fiona’s “imperfection” is only a subjective perspective of the able-bodied worldview that fails to see the value of her giggle-laden life.” Even though my 10 month old baby girl, Rissa doesn’t laugh yet, I know this is what we have in store. Rissa’s deletion is different, but her disposition is similar. I like to call her my Warrior Angel, she fights to spread love where ever she travels. EVERYONE is so very touched by her when they meet her, that I genuinely consider it a privilege to have been selected to be her mother. Thank you for sharing!

  11. Since you said this was your favorite post, I just had to read it. And frankly? I can see why. Reading your blog almost makes me feel like I can never write anything ever again. That was mind boggling and beautiful and I can hardly wait to read more.

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