My wife, Laura, took a deep breath and mustered the courage to call the neurology clinic.
Families of sick children were told to wait patiently for lab results. But what was supposed to take four months had stretched to half a year of waiting to find out if our son, Bryson, had a degenerative disease that would prevent him from reaching adulthood.
“The results still aren’t back,” the nurse said. “We’ll call you when they are.”
When Laura pressed, the nurse reluctantly agreed to check the file. Minutes later, she returned to the phone to sheepishly acknowledge that an error had been made. Bryson’s blood was never sent to the U.S. lab for testing.
That was six years ago. For nearly a decade, Bryson has endured countless tests to try to uncover a diagnosis. A muscle biopsy. Multiple MRIs and EEGs. Dozens of blood and genetics tests. One by one, we crossed potential diagnoses off the list as every test came back negative.
But last month, our world changed. Through an exome sequencing of Bryson’s DNA, we have a diagnosis. Bryson, 91/2, has an extremely rare genetic disorder known as GRIN1, named for the gene that is misspelled.
Getting a diagnosis doesn’t change Bryson’s treatments or therapies – at least not over the short term. But for families with sick children, getting a diagnosis means everything – even when it means nothing.
Kevin Van Paassen for The Globe and Mail
The diagnosis means that our family is finally part of a small community. We know of just seven other people with the disease. But we are no longer alone.
Our journey for answers began when Bryson was just a few weeks old. At a baby-picture shoot at a department-store studio, we noticed Bryson couldn’t hold up his head the way his older brother had.
At Bryson’s three-month checkup, doctors confirmed our fears. Bryson was not developing like other kids. At first, they labelled his condition low muscle tone. As he aged and missed milestones for sitting, crawling, talking and walking, his condition was reassessed as a “non-specific” global developmental delay.
Meanwhile, Bryson was poked, prodded, scanned and cut open. Laura and I grew accustomed to intrusive questions such as whether Bryson could be inbred (“Is there any chance you’re related?”).
Our friends’ kids grew up on Facebook with each milestone proudly shared. We celebrated more privately when Bryson sat up independently for the first time at the age of 4 or started taking an interest in toys at 5.
And now, a diagnosis. While I drove home from the appointment, Laura pulled out her iPhone and googled. She found some technical papers about the GRIN1 gene and research that had been done on mice. We didn’t understand much of it.
Kevin Van Paassen for The Globe and Mail
Our extended family also began scouring the Web. My sister found a blog by a Colorado mom whose daughter had a GRIN1 diagnosis. Over the next few days, we found and connected with seven families in the United States and Europe.
As much as the scientific literature was opaque, these families provided clarity.
There are parents in Norway making a documentary about their daughter’s journey. And a boy in Pennsylvania who loves watching Pittsburgh Penguins games just as Bryson loves watching the Toronto Blue Jays. Most GRIN1 patients are younger than Bryson, but we came across one woman in her 20s who has learned to walk.
We’re all connected in a Facebook group. There’s even talk of getting together for a GRIN1 meet-up next year.
Laura identified with other moms who said the diagnosis was a relief because it allowed them to stop blaming themselves. Laura had always feared that Bryson’s condition was somehow her fault – that she did something wrong when he was in her belly. Now, she can let go of that toxic guilt.
I understand now that Bryson’s little body is doing exactly what it’s supposed to, given his own genetic code. He is perfect. Yes, one of his genes is coded differently, but the vast majority – some 20,000 – are copies of mine and Laura’s.
Now that we have this small community, our families feel more normal. While others may see our lives as tragic, we know we’ve been blessed with these loving, beautiful, perfect, challenged children.
Keith McArthur lives in Toronto.