I was once a woman without children. It’s hard to remember who I was then, just over a decade ago. I know I wasn’t happy most of the time. I know I wanted to figure out “what to do with my life.” I know I was searching for meaningful work, having gone from teaching college to working at environmental nonprofits. For us, it wasn’t the typical, “Okay, we’re ready—let’s start boinking like bunnies.” In my twenties, I had a routine blood test and then a meeting with a frenetic fertility specialist who stared at my numbers and greeted me with, “Do you have a sister? You’re going to need an egg donor.” We didn’t actually want to have kids yet, but the doctor told me it was now or never if I wanted to try to have my own biological children. I remember telling my husband, “I think I’m ready to learn the lessons that only kids can teach me.” After six years of trying everything, we conceived twins using an egg donor—a boy, James; and a girl, Charlotte.
The other day, as James’s body jerked and lurched over to the hand railing on our porch, I caught sight of the tiny scar on his upper arm.
It’s a raised pale circle just smaller than a lentil bean—skin that was dug out with expert quickness by one of the world’s top geneticists when he was only two years old. As usual, he didn’t cry. He never did—not even when they took ten vials of blood with a needle. He is tough that way.
They collected his skin cells, along with the vials of blood, to do genetic testing. They did find one mutation, but it was thought to be a “benign variant” because his sister had it too. His sister Charlotte was, and still is, the picture of health.
Five years later, when the Human Genome Project opened up research into more and more obscure genes, they finally identified another mutation that may be the cause of his disease. The famous doctor who discovered mitochondrial disease, Dr. Douglas C. Wallace, works at Children’s Hospital of Philadelphia, where we take James. Dr. Wallace’s research team wrote an article for a medical journal about three people who have had this same mutation. These people had lots of problems—blindness, deafness, mental retardation, seizures, dementia. The authors proposed that it is not just this one gene mutation (NDUFA1) that causes disease, but that it must be combined with another mutation, many of which are thought to be benign. In other words, he has this disease not just because he has one obscure mutation, but because he also happens to have another mutation. On their own, they don’t do anything. Together, they rob you of mouth, eyes, ears, hands, fingers, legs that work. There is no cure yet for mitochondrial disease, and it is degenerative.
At the time, I read the paragraphs over and over again and looked words up in medical dictionaries until I finally understood it. If he has this, James is among four people, living or dead, with this rare type of mitochondrial disease. None of them even have the exact same pairing of mutations. We needed Dr. Wallace’s team to do another test to confirm it. They would look at how his cells produce energy, what the proteins did during Complex I. Or something like that. That was three years ago.
James’s paperwork is still gathering dust on Dr. Wallace’s desk. They haven’t gotten around to it, and it’s not a test that is done anywhere else. I once wrote an e-mail telling Dr. Wallace’s team that I am a worried mom who just needs answers, that if they would just run the test for my son, I would buy them any beer or chocolate they wanted. I never heard back. I imagine one of these doctors in a lab coat, scribbling notes as he prepares a petri dish, resting a foot on one of many cases of German beer and fine Belgian chocolate stacked in the corner. Apparently, they’re good for now on lab rations. James’s skin cells are still frozen in time in Dr. Wallace’s freezer.
On paper, James looks terrible. He can’t see a whole lot, he has shaking all over his body that makes simple tasks impossible, he has hearing loss, and his speech is impaired. But in person, he’s got it going on.
Last Christmas, a local grocery store held a coloring contest for kids. The winner would get a holiday basket full of cookies and candies. James became obsessed with this contest. It was simply a coloring sheet of Santa climbing into his sleigh, but for James to color it was a monumental feat. He cannot color inside the lines because he can’t see them. He also tends to push down on the marker so hard that he saturates the paper with ink. I have to tape the paper down to prevent it from shifting off the table when he moves his hand.
I set him up at a craft table and gave him some thick markers dark enough for him to see. He grasped the marker with the points of all five of his fingers, his grip both tenacious and flawed. He had to rework his grip every minute or so as the marker slipped away from him. But he colored the heck out of that picture.
“Where do you think Santa is right now?” I asked. Even at 11, he still believes. It’s harder to tell all the Santas are different when you can’t see them too clearly.
“Ah fint he’s duss pusheen off his bwantets annn. . . .” He thought for a minute, his marker straying toward his chin, putting turquoise lines on his lips. “Mrs. Twaus duss dave him a tup of toffee!”
Tickled by the thought of Santa pushing off his blankets and drinking his coffee, he giggled and went back to coloring. A minute later, the pulp of the paper finally gave way and tore. His smile dissolved and he gingerly touched the hole so he could tell if it broke through.
“Aw!” he moaned. “Ah’m wotten! Ah tan’t cuh-wuh ANY-fin! Ah’m a bunch of junt.”
He stopped, and took three breaths, then began to whisper to himself.
“Yes, you ten do it, Dems. You done it befoh. You ten do it.”
He was worried that he wouldn’t win, couldn’t possibly win with the quality of coloring he did. I encouraged him to write a letter explaining his challenges. He did, simply typing on his computer “My body is shaky, so my drawing is messy. That’s the way I was born.”
Two weeks later, we got a phone call. I handed it to James. Even on speaker, he had a hard time hearing the woman.
“What? What?” he kept saying.
The woman was patient and spoke louder. She informed him he had won the holiday basket and gratitude swelled in me as I saw him light up at the news. They were so kind to let him win. They still probably had no idea how much this meant to him.
It’s hard to remember who I was before kids. That young woman was looking for meaningful work and entered into parenthood ready to learn something from a child. That woman thought children would force her to live in the present. She anticipated gazing into their eyes with gratitude and wonder. She certainly didn’t plan on having a child with broken genes that put him beyond hope for a normal life.
I didn’t ask for this journey, but I got what I was looking for just the same. My life is now as full of meaning and purpose as Santa’s “tup” is full of piping hot coffee.
That tiny scar on James’s arm is a tether to memory, pulling me back to my early years as a terrified mother, and back further still to that moment before conception. Only rarely, when the pain breaks me, have I entered that parenting netherworld where I wonder: “What if I could take this son who is shaky and messy and requires me to give up nearly every minute of what I used to consider “my life” to enable him to have one; what if I could trade him for another with a perfect body?” Would I?
Not even if I could.
James won that coloring contest and his words—”That’s the way I was born”—are as much a statement about my birth as they are about his.