We Have a diagnosis: GRIN1

IMG_5129Laura took a deep breath and mustered up the courage to call the neurology clinic.

Families of sick children were supposed to wait patiently. The clinic nurse had made this clear eight weeks earlier when Laura first called to check up on Bryson’s lab results. 

But parents quickly learn that it pays to be pushy. And what was supposed to be a four-month wait had stretched to half a year of waiting to find out if Bryson had tested positive for a degenerative disease that would prevent him from reaching adulthood. So Laura ignored the ‘don’t call us; we’ll call you’ directive and dialed again.

“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 on the file. A few minutes later, the nurse returned to the phone to sheepishly acknowledge that an error had been made. Bryson’s blood was never sent to the US lab for testing.

The reality of this – another four months of waiting – hit Laura hard. She hung up the phone and wept.

Four months later, the results finally came back. They were negative.

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 a few days ago our world changed. Through a full sequencing of Bryson’s DNA, we have a diagnosis. Bryson has an extremely rare genetic disorder known as GRIN1, named for the gene that is misspelled.

It’s so rare that our doctors don’t really know much about it. And there’s very little on the Internet about it. But through social media, we’ve already connected with families in the United States and Europe who have children with this diagnosis.

While details vary from person to person, the common symptoms include moderate to severe intellectual disability and low muscle tone. Many kids also have seizures. Interestingly, several of these children find joy watching sports.

And the good news: the disease isn’t degenerative. GRIN1 kids progress and develop in physical and mental ability at their own pace.

Our kind and brilliant genetics doctor, Ronald Cohn, confided he’s been surprised over the years at how happy families are to receive a diagnosis – even when it doesn’t change treatment.

And indeed, getting a diagnosis has changed our world.

Laura has always felt like maybe the pregnancy was her fault – that she did something wrong when Bryson was in her belly. The pressure on expectant mothers to be perfect is immense. Now she can finally let go of this toxic guilt.

And for me? I understand now that Bryson’s little body is doing exactly what it’s supposed to be doing 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. 

Not only that, but we now have the knowledge that in the future, there could possibly be new treatments – medicines or gene therapies – that could help Bryson to progress more quickly.

The biggest change, however, is that our family is finally part of a community. It’s a small community; we know of just eight other people with the disease. But we are no longer alone.

Bryson will never be alone.

We found these families through a blog post a GRIN1 mom had written.

So I want to speak directly to any families who might find this post after receiving their own diagnosis:

First, congratulations and welcome to our community. Please reach out so we can learn more about GRIN1 together. Meantime, I’ve included some links below where you can read more about Bryson and other kids with GRIN1.

Bryson

Baseball and Belonging

My Father’s Day Pledge

Hunter

Penguins games therapeutic for Carnegie toddler with rare gene mutation

Aislinn

Aislinn’s Treasures: Just Grin

 

Baseball and Belonging

photo

Bryson and me at Rogers Centre for Game 5 of American League Division Series. Oct. 14, 2015

My son Bryson and I were among the tens of thousands who congregated on Front Street after game five of the Blue Jays -Rangers division series. It was undoubtedly one of the best moments of my life.

Walking back to the parking lot, we couldn’t move more than a few steps without someone coming up to give Bryson a high five. One generous fan gave Bryson a ball he had caught at the game. Earlier, a vendor who was selling posters outside the Rogers Centre ate his costs and gave one to Bryson for free. They were strangers, but then again they weren’t. This was our tribe and Bryson was at the centre of it.

In many ways, Bryson goes through his life as an outsider. As a non-verbal 9-year-old in a wheelchair, he tends to be the quiet observer looking in from the outside. Not this time. Halfway through our walk, a jubilant Bryson let out a cheer and dozens around us joined in. Then the same amazing thing happened again. And again. For a few brief moments, Bryson wasn’t just part of the tribe, he was leading it.

Tribalism in sports tends to be viewed negatively. It can certainly lead to boorish behaviour as it did in the seventh inning when angry fans began throwing beer. But the power of sports is that it creates a sense of belonging. We are Toronto. We are Canada. We are the Blue Jays.

For four hours, the 49,000 fans at the game – and millions more watching on TV – shared a communion of emotions. Together, we were excited at returning home for a game five that seemed impossible a few days before. Together, we were worried when Texas took an early 2-0 lead. Together, we were angry when we felt the Rangers had stolen a run. Together, we were ecstatic when Jose Bautista hit his three-run home run. Together, we were concerned when Texas brought the tying run to the plate in the eighth inning. Together we were triumphant when our 20-year-old closer pummeled Texas with four strikeouts to secure victory.

Even after the game, Canadians rallied around our hero, Jose Bautista, as he became America’s villain, criticized for not playing the game the right way.

I remember an awkward teenage period where I felt like an outsider. At school, I felt depressed and lonely, but at a Blue Jays games, I was confident and optimistic. It was the late eighties and the new SkyDome was selling out game after game. I was part of it all. I belonged.

A friend of mine took his 97-year-old grandfather, a holocaust survivor, to the 14-inning playoff game earlier in this series. He’s been a fan since 1977 and never misses a game; he won’t even eat if the Jays are playing. After losing most of his family and living through unimaginable horrors as a young man in a concentration camp, the Blue Jays provided comfort. They still do.

There are no outsiders in a sports tribe. You’re in because you choose to be. This, of course, is not absolute. After a baby got hit by a thrown beer in the seventh inning, most in social media were appalled. But some blamed the parents for bringing a baby to a winner-take-all game. Babies didn’t belong in their tribe.

There are probably some who feel the same about Bryson, but for those magical moments after game 5, he felt only acceptance. Most days, Bryson has a hard time sitting in a wheelchair for a long period of time. He is scared of large crowds. And he is terrified by noise. But when I take him to Blue Jays games, none of those things bother him. A sense of calm falls over him. He is safe and secure with his tribe.

Jerry Seinfeld famously said we don’t cheer for players, we cheer for the clothes they wear.

But that’s not right. We cheer to belong.

My Father’s Day Pledge

My son Bryson is a gift. His blue eyes and smile light up the world for everyone around him.

He is also disabled.

After years of tests and zero results all we know is that he has a rare but undiagnosed genetic disorder. Almost five, he can’t play hockey or video games or hide and seek or all the other things that five year olds are supposed to do. He can’t even walk or talk or crawl.

But he makes progress every day. Today’s big achievement was that he used a regular sippy cup by himself for the first time instead of drinking milk from a bottle. These are the moments that make me as proud as I would be if he had just scored the game winning soccer goal.

Most importantly, Bryson is happy. And innocent. He’s never had a time out or been sent to the principal’s office or done anything mean to another human being. He is simply incapable.

There are phases of mourning that you go through when you learn that your child is disabled. I’ve been through them all.

I’ve arrived in a place where I feel okay about it, mostly. But once in a while something happens that reminds me that this world is not kind to those who  are different.

Tonight we took our two boys out for dinner to a new Thai/Japanese restaurant that opened around the corner. It’s all-you-can-taste: You order what you want from the menu and they bring it to your table. We brought a thermos of food for Bryson as it’s hard to find food he can eat in restaurants.

We ordered our first round of food and it came quickly – Tom Yum soup, mango salad, sushi, green curry, coconut shrimp, and spicy octopus. The food was hot and fresh and delicious.

We ordered our next round. Mango chicken came quickly. But 30 minutes later we were still waiting for more sushi and barbeque ribs. We  asked our waiter to check on the order.

Despite the wait, the kids were in good spirits. My seven-year-old son Connor was passing the time by inventing a new variation on Pokemon which he called Connormon. And Bryson was communicating with us from his wheelchair the only way he knows how – through songful, deep-throated vocalizations.

Another 15 minutes later we asked to speak  to a manager, who explained to us that the owners were trying to save on staffing costs and there weren’t enough people on duty to service the busy restaurant.

I asked to speak to the person in charge. A few minutes later, a woman dropped by our table.  Naturally, I assumed she was there to hear my complaint. She wasn’t.

“You need to tell your son to be quiet,” she said, pointing at Bryson. “Other guests are complaining that they can’t enjoy their meals in peace.”

We were flabbergasted. We pointed out what we thought was obvious – that Bryson has severe mental and physical disabilities and that we can’t just tell him to be quiet.

“It’s more than one table that has complained,” said the woman in charge, before agreeing to expedite our order and put it in take-out containers.

Fifteen minutes later the food arrived, along with the bill, which the waiter had discounted by 10 per cent. I paid the bill and did something I’ve never done before – I declined to tip.

Before leaving I set out to find the most senior person in the restaurant. I told my story – not just about the food delay but also about the request that we shut up our disabled son – to a man who apologized profusely and offered to credit the entire meal. He also agreed to my request that the restaurant itself pay our waiter a $15 tip. For this reason, I’ll refrain from naming the restaurant here.

We live and love Bryson’s differences every single day. Nights like this one remind me that there are people who can’t accept difference for a single meal.

As Father’s Day approaches, my pledge to Bryson is to be by his side to protect him from the judgments of this world until the day I die.

My single greatest fear in the world is that there will be nobody to protect him after my wife and I are gone.