It’s foretold in the book of Isaiah, “and a little child shall lead them”. But little did I know that I’d personally be led by a little boy, too.
Faith has always been an important part of my life. I was born, brought up and baptized a Christian. But just as fire makes it possible to bend, mold and shape metal, so do trials, challenges and experiences shape personal faith. They can strengthen or weaken it, build it up or break it. And my own spirituality hasn’t been immune to this process.
“It’s just too complicated,” he said as his eyes bounced between me, the floor and the tiny little boy currently balanced on my knee. “I—I—just can’t help anymore. I don’t know what’s wrong.”
I was stunned. I had no words. The doctor hadn’t said anything that I hadn’t thought before myself. It was the way he said it. And then came the words that had never crossed my mind. The words that I as a mother could never utter.
“I give up,” he said, throwing his hands up in the air. But this time his eyes never met mine. Instead, he grabbed my son’s chart, got up and walked out of the exam room. That was the last time I saw my son’s pediatrician. No referrals. No new leads as to what questions to ask next. Instead, complete and total medical abandonment. For whatever reason, this specific doctor wasn’t willing—or able—to walk inside the hazy space where simple, concrete answers can prove elusive. It’s not easy. It’s an unsteady place. It’s lonely where others haven’t been before. He wanted out.
Perhaps not surprisingly, this medical journey with our son has weeded out our company quite a bit. Our tribe is a unique one. Our community, close-knit. From the primary care doctor who continues to list unspecific, ambiguous reasons for Mark’s acute symptoms in his chart, yet continues to help us manage the latter as best she can. To the pediatric neurologist who uncomfortably confesses his uncertainty at each visit, but still encourages us with the little guidance he’s able to give. To the medical geneticists and the genetic counselor who have continued to answer our questions as best they can despite the slew of unknowns. For every person who’s hit a brick wall and given up, there’s been another who’s come along side us to help.
“What 3 things do you hope to accomplish at today’s appointment?” Jason read aloud off the white board. We’d been pinned up waiting in a tiny exam room for quite some time, and we were quickly running out of ways to keep ourselves entertained.
“Number one… Coupons for the gift shop!” Jason jokingly scribbled down on the board. Mark, wrapped up in my colorful scarf, stopped mid-spin to see what daddy was busy writing.
“Number two… Free prescriptions!” Jason continued writing. “And let’s see… What else?”
“Ah, I’ve got it!” he said as Mark came running over to watch Jason complete the list. “A pony!”
“Yeah, yeah, I want pony, Daddy! Pony!” Mark exclaimed as he jumped up and down, sending my scarf floating down to the dusty linoleum floor.
It was then that the door slowly opened and we each got a peek at the white lab coat on the other side. Mark grabbed my scarf and ran to the safety of my lap as Jason quickly erased the numbered list of humorous wishes. Ironically, the one thing Jason and I wanted most—answers—didn’t make the list. Maybe we knew better. Maybe we were tired of getting our hopes up. Maybe a bit of both.
This wasn’t our first time here. Located inside the largest children’s hospital in our state, we’d made the long drive to see this doctor before. So, it came as no surprise when he began with a simple follow-up exam. This seemed to put Mark more at ease. He knew what to expect and he was obviously pleased with all the immediate positive feedback he was receiving.
“Wow! You’ve grown since I’ve seen you last,” the doctor said as he looked Mark up and down and then glanced down at the chart. “Are you liking school?”
Mark nodded, eager to affirm just how much he loved school. Jason and I appreciated the doctor’s wonderful bedside manner with our little boy. But we were also incredibly eager to get to the real reason behind that day’s visit. What exactly were the findings of the chromosomal microarray testing? We felt as if we were on the precipice of finally having the answers we had been seeking for years, answers we needed to best help Mark. Would answers finally come? Or would we be left to wonder some more?
The doctor didn’t disappoint. And sensing the big reveal was coming soon, I quickly got Mark busy with the crayons and paper I’d tucked inside my purse. As if on cue, Mark picked up a crayon just as the doctor picked up a dry eraser marker.
The doctor unceremoniously wrote “2% – 3%” on the board. Then, turned to give us a “quick and dirty” primer on genetics.
“Identical by decent—or ‘IBD’ for short –describes a matching portion of DNA that’s inherited from a common ancestor,” the doctor began. “When a child is conceived, he or she receives half of their chromosomal makeup from their mother and half from the father.”
Biology admittedly wasn’t my strong suit in school. (I was partial to the Earth sciences.) But I followed the doctor so far. And a quick glance at Jason as he nodded along showed that he followed so far, too. We waited with bated breath for the good stuff.
“Normally, there’s enough genetic variety that there are no issues,” the doctor explained. “But sometimes there’s not. Sometimes when people are related biologically and procreate, there’s duplications.” And that’s when the doctor turned back to the white board and circled the numbers he’d written before.
“A minute amount of duplication is normal. But when the amount reaches this percentage, it’s time to sit parents down and have a very serious conversation about the potential consequences,” the doctor continued. And that’s when he picked up the marker and wrote another number: 19.1%.
“What does that mean?!” I stammered. My words feigned ignorance, but my tone couldn’t adequately hide my concern.
“Well,” he began carefully. “It could mean a lot. It could mean nothing. What it does mean is that Mark has an incredibly high probability of suffering from a wide variety of autosomal recessive conditions, conditions that require that 2 abnormal genes be present. He could be affected now. He could be affected in the future. He could be incredibly lucky and never be affected at all. We just don’t know…”
The doctor continued to rattle on about things such as “long continuous strands of homozygosity” and “high degrees of consanguinity,” two things that Mark also had. But, frankly, I kind of shut off. Suddenly, I didn’t care about the science part of things. Instead, my attention turned to a simultaneously pragmatic and compassionate place. I stopped looking at the doctor and focused instead on the little boy who was currently sitting at my feet.
“Momma, what matter be?” Mark said the moment our eyes met. He immediately dropped the crayon he was holding, stood up and reached for my scarf again.
“Nothing, Sweetie. Shhh…” I whispered as I helped him unravel the colorful swath of fabric that had found its way back to my neck. As he carefully wrapped it around his own, I lifted him up on my lap.
Sometime between the doctor’s impromptu genetics lesson and my own question about Mark’s test results, Jason redirected the conversation to the massive spreadsheet that was also sent along by the genetics lab. It contained a staggering list of over 370 different autosomal recessive genetic conditions that science—up to that point—could identify in those same areas where Mark’s genetic makeup showed duplications.
In short, all the doctor could say was maybe Mark would develop these conditions. Maybe not. But there is no doubting the fact that the odds are extraordinarily stacked against him. Additionally, the doctor pointed out, there is a very high likelihood that whatever Mark currently suffers from isn’t even on the books yet. To say that the study of human genetics is complicated is a vast understatement. Scientists have discovered much, but they’re still working to completely unravel all of its intricate mysteries. And so, sat our little boy smackdab in the middle of a medical mystery of his own. But the very fact that he’s here—alive and functioning as well as he is—is a medical marvel, too. And that truth didn’t escape me then nor does it still today.
Click here to read Part 2.