Unlocking Bryson’s brain: Why this 13-year-old can’t walk or talk

Keith McArthur can remember the moment he and his wife, Laura Williams, began to realize their newborn son might not be like other babies.

It was the fall of 2006, and like so many parents, the Toronto couple was at a Sears Portrait Studio to document a new stage in their lives. The hope was to have some photos of baby Bryson and his three-year-old brother, Connor, to frame as Christmas gifts for the grandparents.

The photographer tried to take that classic shot where the baby’s head is propped up on his tiny fists. Only it didn’t work for two-month-old Bryson. The photographer, with the help of Bryson’s parents, attempted the pose again and again but the boy’s head just kept falling to the side. In the end, the photographer gave up and moved on to the next pose.

Over the next couple of weeks, it became clear that something about Bryson was, in fact, different. McArthur and Williams had revelled in the way Connor had hit developmental milestones on time or ahead of schedule. By contrast, Bryson wasn’t reaching them at all.

“All babies have floppy heads but his was floppier,” said McArthur. “His limbs were floppy, too. And his eyes didn’t track objects the way the baby books said they should by this age.”

After Bryson’s three-month checkup, doctors said he had hypotonia — the medical term for kids with loose, floppy muscles. But as he progressed through infancy, medical tests made it clear that it was more complicated than that. Bryson’s diagnosis was later changed to global developmental delay, which meant it wasn’t just his body that was falling behind — it was also his brain.

In fact, the pediatricians and other specialists Bryson saw didn’t know the underlying condition behind his low muscle tone and missed milestones, such as rolling over and sitting unassisted.

“He can’t walk or talk or dress himself or feed himself or use the bathroom by himself.”

Despite seeking the expertise of countless doctors and specialists, McArthur and Williams wouldn’t know for years. From that day at the Sears Portrait Studio, it would be nearly a decade before Bryson’s parents would learn he has a rare genetic condition called GRIN1-related neurodevelopmental disorder. It’s caused by a mutation in the GRIN1 gene, which helps produce a protein that plays a critical role in how the brain learns, grows and develops.

Today, Bryson is 13, and according to his father, a warm and loving son. But he functions at the level of a 12-month-old.

“He can’t walk or talk or dress himself or feed himself or use the washroom by himself,” said McArthur. Bryson also experiences violent, seizure-like episodes.

McArthur and Williams’s search for an elusive diagnosis and then for treatments has reshaped their lives. Both of them have had to put their careers on hold at times. Two years ago, McArthur, a former journalist, set his writing aside to focus exclusively on the hunt for a cure.

Their focus has been not just on accommodating Bryson’s needs but also understanding the nature of his condition. Any parent will advocate for a child with a rare disease, but GRIN1 has no playbook. So McArthur and Wiliams have had to write that playbook. Their odyssey has made them detectives of a sort, as well as fundraisers and scientific research partners.

Finding the answers to Bryson’s medical mystery could have implications for the approximately 1,000 people worldwide known to have GRIN disorder. But would learning more about Bryson’s condition bring them any closer to knowing what’s going on in his mind?

• Listen to the CBC podcast Unlocking Bryson’s Brain

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Bryson has big, bright blue-green eyes under a fringe of blond hair. He’s very slight but he has a wide smile that draws people in.

“His smile envelops you with genuine warmth,” said McArthur. “His hugs are the purest form of love.”

WATCH | Bryson smiles for the camera:

Indeed, Bryson is charmingly smiley with others, quick to laugh and loves watching the Toronto Blue Jays with his dad. During the coronavirus lockdown, he and his brother, Connor, a self-described “musical theatre nerd,” have been binge-watching the TV series Glee.

Bryson also enjoys the company of his classmates at Sunny View Public School, a school in North Toronto that caters to kids with physical and cognitive disabilities.

“He loves it there, and seems to get annoyed on weekends when he has to spend time with us instead of getting on the school bus to go see his friends,” said McArthur.

Bryson seems to understand conversations around him and the questions his family ask of him, even if he can’t really answer in words.

“He lets us know his preferences by reaching forward with both hands and choosing — say, between pudding or applesauce — or putting his hands in front of his mouth if he doesn’t want to eat at all,” said McArthur.

Given his physical limitations, Bryson has specialized equipment. Getting Bryson in the family’s accessible van, into his collapsible wheelchair and then navigating public spaces can be exhausting for the family.

“I know how to love him and I know how to put my needs aside and try and help him.”

Connor, who is now 16, has learned to roll with having a sibling who requires a lot of care. He admits it would be nice if the family could more easily go to restaurants or travel, but insists “it’s not that big of a deal to me.”

“I know how to love him and I know how to put my needs aside and try and help him,” Connor said. He said he never had an expectation that Bryson would be able to interact with him in the usual way. “I grew up knowing him as someone who couldn’t walk or talk or tell us what he wants.”

But McArthur and Williams want to understand far more about Bryson’s preferences, what he’s thinking and, most importantly, what he needs.

Although he’s made some important developmental strides, Bryson still needs 24/7 supervision and support. “He has mood swings that turn into seizure-like episodes where he bites himself so violently [on the wrist] we’re worried he’ll tear an artery,” said McArthur.

Bryson’s parents hired a caregiver, Edna, who looks after him after school each day. They also transformed the family living room into a safe space, covering the floors and walls with gymnastic mats and pool noodles.

“But he still gets hurt,” said McArthur.

WATCH | McArthur comforts his son after a seizure-like episode:

McArthur said that in the first year of Bryson’s life, he held onto the belief that while Bryson was missing milestones, he’d eventually catch up — that he would learn to walk and talk and that “we’d get our perfect family back again.”

Bryson’s mom was less inclined to believe that. Williams was at home with her two boys at the time, having put her job as a social worker on hold after Connor was born and then committing to staying at home for a while once it became clear that Bryson had extraordinary medical needs.

For one thing, he had regular appointments at Sick Kids Hospital as well as for physical therapy. “Keith tried to come to appointments, but they were almost daily,” Williams said. The boy also needed physical therapy at home. Williams said she felt a weight of responsibility making sure she didn’t miss an in-home physio session with Bryson, but acknowledged it was a challenge while caring for her other small child.

In the first few years of his life, Bryson was being tested for a number of diseases, some of which have a very short life expectancy. Living without a diagnosis, Williams said she had to work hard to keep from going down a “rabbit hole” of worry that Bryson wouldn’t live through his early years.

The best guess the specialists could make at that point was that Bryson had some sort of rare genetic condition — they just didn’t know what. Maybe Angelman syndrome. Fragile X. Smith-Lemli-Opitz syndrome. Pompe syndrome. Rett Syndrome. Prader-Willi Syndrome. ATR-X Syndrome.

One doctor cautioned McArthur and Williams that they might never learn the cause of Bryson’s limitations.

McArthur and Williams were asked on multiple occasions if there was any chance they were related, because genetic diseases are much more common in that case. They assured the specialists and medical residents that the branches of their family trees did not in fact meet.

McArthur said “one of the scariest possibilities” was a test for Spinal Muscular Atrophy, “a rare genetic disease that can kill babies before they reach their first birthday.”

When he had this test at nine months, Bryson’s parents were told it would take three months for the test results for SMA. When they heard nothing around the three-month mark, Williams rang the clinic.

“I remember calling and talking to our nurse and she said, ‘Well, if you haven’t gotten a call, then the results aren’t in yet.’ I thought, OK, and I hung up the phone, and was very anxious…. It really felt li