Front Burner - Introducing Unlocking Bryson's Brain

Episode Date: April 18, 2020

Bryson seems like a perfectly healthy baby. But soon doctors confirm his parents’ worst fears: something is wrong with Bryson’s brain. Despite dozens of tests over nearly a decade, doctors come up empty in their efforts to find a diagnosis.Then one day, everything changes. Scientists working at the cutting edge of genetics believe they know what's causing Bryson's disease — and think it could be reversed. Here’s the first episode of the new CBC podcast, Unlocking Bryson’s Brain. More episodes are available at hyperurl.co/unlocking

In the Dragon's Den, a simple pitch can lead to a life-changing connection. Watch new episodes of Dragon's Den free on CBC Gem. Brought to you in part by National Angel Capital Organization, empowering Canada's entrepreneurs through angel investment and industry connections. This is a CBC Podcast. Hi, everyone. So we have a very special bonus episode for FrontBurner's podcast subscribers today. Unlocking Bryson's Brain is the latest release from CBC Podcasts and tells the true story of 13-year-old Bryson, a happy, loving boy with a mysterious neurodevelopmental disease that has left him unable to walk, talk, or even feed himself. Scientists working at the cutting edge of

genetics think they know what's causing this rare illness, and they suspect it actually could be reversed. Join host Keith MacArthur, Bryson's dad, on their family's search for answers and possibly a cure in unlocking Bryson's brain. Subscribe now on your favorite podcast app, and we've got the first episode for you here. Have a listen. Hey there. When I started working on this podcast more than a year ago, I could never have imagined what's going on in the world right now. Like most of you, I'm spending my days in isolation with my family. We're trying our best to help flatten the curve and keep ourselves safe and healthy. During this difficult time, I'm craving great storytelling podcasts that can help me escape. And I think you'll find that here.

But this series about searching for a cure for my son's rare disease is also a microcosm of the discussions going on all around us. About a life-changing illness, inadequate testing, funding priorities, the cutting edge of medical science, and the power of hope in a time of darkness. I'm Keith MacArthur, and this is Unlocking Bryson's Brain. 9 a.m. Laura's in labor. Contraction started around 4 30. In this home video from 2006, I'm filming my wife in a hospital bed. She's wearing green cargo pants and a black tank top pulled up high to expose her pregnant belly. It's one of the most important, most perfect days of my life. August 17th. Laura's having pretty intense contractions and she's dancing through them. days of my life. August 17th?

Laura's having pretty intense contractions and she's dancing through them. They're not that intense, not yet. Laura's prepared a mix of music to help her through. Songs from Great Big Sea, Abba's Dancing Queen, and Hallelujah, the Rufus Wainwright version. Push your little cunts up like you did the last time, okay? And give me a son, Bryson is 8 pounds, 3 ounces, and appears healthy. When we get settled into our room at Toronto's Mount Sinai Hospital, our two-and-a-half-year- old son Connor meets his baby brother for the first time.

Hi baby Bryson. He's very tiny. He is, yes. Is he a boy? Is he a cub, Bryson? Happy birthday to you. Happy birthday dear Bryson. Happy birthday to you, Bryson. Happy birthday to you. That's so nice. Connor sings happy birthday to Bryson and then gives him some presents. Here you go, Bryson. Books my sister helped him pick out that morning. And we give Connor a gift from Bryson, a Mickey Mouse watch that we picked up a few months earlier at Disney World. Thanks, Bryson.

Like I said, everything's perfect. And I want to hold on to that day and that feeling forever. Because soon doctors confirm our worst fears. Every parent's worst fears. Something is wrong with Bryson's brain. You know that thing you say, that you're supposed to say, when you're expecting a baby and someone asks if you want a boy or girl? I don't care, as long as it's healthy.

I used to say that too. But today, 13 years after Bryson's birth, when I hear someone say that, it's a painful reminder that my kid, he's not healthy. And on one hand, healthy isn't everything. Bryson is great. He's loving and charming and lights up the room with his smile. His condition is also the biggest challenge Laura and I have ever had to face. He can't walk or talk or dress himself or feed himself or use the washroom by himself. Into his teens, Bryson functions at the level of a 12-month-old. He still needs 24-7 supervision and support. He has mood swings that turn into seizure-like

episodes where he bites himself so violently, we're worried he'll tear an artery. For most of Bryson's life, we've had no idea why he's going through all this. For most of Bryson's life, we've had no idea why he's going through all this. For years, doctors have searched in vain for a diagnosis. With no diagnosis, there are no treatments or cures, and we're scared to death about what will happen to Bryson when we're not around to look after him. What we need is a medical miracle. I'm Keith MacArthur. Two years ago, I decided to put everything else aside

and dedicate my life to chasing that miracle. This podcast is about my attempts to understand what's going on in Bryson's brain and my journey to find a cure. And maybe, just maybe, by telling this story, someone listening out there will help us to find one. This story is partly a father's memoir, partly a medical mystery. In a typical mystery, the satisfying ending comes when a killer is caught

and brought to justice and spends the rest of his life behind bars. The happy ending in this story? Well, I guess we would unmask Bryson's mystery disease, find a cure, and unlock Bryson's brain. And then what? He learns to walk and learns to talk and grows up to be a man who can take care of himself and live by himself and maybe fall in love and raise a family. But I'm getting ahead of myself because I really don't know where this story will end. But as a dad, as Bryson's dad, how can I do anything but believe? Hello.

Hello. I'm not alone in the search for a miracle. I'm Laura Williams, and my husband is Keith MacArthur, and my sons are Connor Williams-MacArthur and Bryson Williams-MacArthur. That's Laura, the love of my life. We met 24 years ago as undergrads. At first, she told me she didn't want kids, but that changed after we got married three years later.

Somewhere along the line, we decided we wanted three kids, or maybe four, and in 2003, we learned that Laura is expecting our first. Laura's first pregnancy was complicated. Bryson's big brother Connor was born three weeks early and the labor seemed to go on forever. Connor's birth was interesting. It was long. It was long. That's probably what I remember the most. It was 24 hours of labor, hard labor, and him finally arriving in the world with a little bit of a struggle. Born with a struggle, but healthy. Which means we can set aside our worst fears. For now. As I watch Connor grow from infant to toddler, I feel a kind of love I've never felt before.

I'm smitten by this tiny person who is so funny and loving and full of positive energy and so smart. At home, we have a bunch of baby books that outline the developmental milestones that kids are supposed to hit. Sit up independently between four and seven months, take their first step between nine and twelve months, say their first words between ten and twelve months. We become those obnoxious first-time parents who gloat to family and friends every time he hits a milestone ahead of the curve. Somehow, it feels like Connor's early accomplishments make us more accomplished, not just as parents, but as humans. We're good at this parenting thing, and we want to do it again. Before Connor turns two, Laura is expecting again. And because we already have a boy, I guess

I kind of hope for a girl to complete the set. But mostly, I just want another healthy baby. And for me, for the dad, that's mostly just a wish. But moms, for them, it's a big responsibility. But moms, for them, it's a big responsibility. Oh, yeah. No, I was, you know, very worried and very mindful of doing everything I could to help them have the best start in life, protect them from anything that could be harmful or dangerous. And so I was very careful about what I would eat, what I would drink, what I would do, careful about what I would eat, what I would drink, what I would do, just trying to prevent anything from happening to them that could come out of me having, you know, done something wrong during the pregnancy. There are all these things that pregnant women aren't supposed to do. And it's not just taking prenatal vitamins and abstaining from booze. It's everything from

avoiding sushi and deli meats to staying out of hot tubs and avoiding hair dyes or beauty products that might contain harmful chemicals. So when she's pregnant with Bryson, I tell Laura I'll give up drinking along with her as a show of solidarity. Then one day when we're going for a cottage weekend on Georgian Bay, I pick up a pack of non-alcoholic beer. You're not going to drink that, are you? Laura asks me. Yeah, I say it's fine. You can drink it too. It's like 0.5% alcohol. Laura lets me know she's not going to put anything with alcohol into her pregnant body. And if I'm really in solidarity with her, then neither will I. Honestly, I was kind of annoyed about it at the time and yeah, maybe we even got into a little fight about it

but when I look back on it now it's a reminder of just how much pressure there is on pregnant women to be perfect and a reminder of just how closely Laura adhered to that She was going to do whatever she could to make sure our boys were born perfectly healthy And for the first 10 weeks of Bryson's life do whatever she could to make sure our boys were born perfectly healthy. And for the first 10 weeks of Bryson's life, we believe we have another perfectly healthy baby.

So we capture all the milestones in home movies. There's our trip home from the hospital. Look, baby Bryson's getting in his car seat for the first time. Hi, baby Bryson. You ready? I'm ready. And bringing Bryson into You ready? I'm ready. And bringing Bryson into the house for the first time. Daddy, who you got?

Bryson. Is he going to come home? A family trip to Marineland near Niagara Falls. Bryson's six weeks old tomorrow. And we're at Marineland on a very empty day. Bryson's first Halloween, which we spend with his cousins. Connor, what are you for Halloween? Bryson won't stop screaming and Connor won't stop running around.

But it's normal. It's perfect. Around the same time, we take Bryson in for baby pictures at Sears. This one's not on video, but I remember it clearly. The photographer tries to take that classic shot where the baby's head is propped up on his tiny fists. Only, it won't work for Bryson. His head keeps falling to the side.

And over the next couple of weeks, it becomes increasingly clear with Bryson that something is different. All babies have floppy heads, but his is floppier. His limbs are floppy too, and his eyes aren't tracking objects the way the baby books say he should be able to. He's nursing okay and putting on weight, but something feels wrong. What's your first memory of thinking that something was different with Bryson? It's hard for me to think of an actual memory, but I definitely have these memories in my mind of pre,

the kind of pre-memories of before I thought something could be wrong, and post-memories, everything that's followed since, especially during that very acute phase of realizing something was wrong. We bring Bryson in for his three-month checkup, and the doctors agree. Something is wrong, but they don't know what. They diagnose Bryson with hypotonia, the medical term for kids with loose, floppy muscles. I can remember one specific doctor's appointment,

maybe that's the day I knew, them confirming, yeah, he's not tracking, not holding his head, he should be doing those things. Before that, I had what I still think of today as a bit of a honeymoon phase where I was so in love with the world that I had these two boys, and I felt like I could actually manage it, that I could handle having two boys, that the second time around having a child,

I was more in control. I knew what I was doing. And so hearing from the doctor that something was wrong pulled a rug out from under my feet that I absolutely had no idea what I was doing. And I was more scared than I ever thought I could ever be in my life. Those baby book milestones that provided so much joy when Connor overachieved, by the time Bryson turns one, he's missed all of them. Happy birthday, dear Bryson. Happy birthday to you. Hi buddy. Happy first birthday.

You're one year old today. One year old, can you believe it? We're so proud of you. Yes, we're so proud of you. When it becomes clear that Bryson has more than just floppy muscles, doctors change his diagnosis to global developmental delay. That means it's not just his body that's falling behind, it's also his brain. For months, I hold on to the belief that Bryson is just missing milestones, that

he will walk and talk and we'll get our perfect family back again. In some ways, it's easier for me to ignore what's right in front of me. I'm busy at work, a reporter with an exciting career at a national Canadian newspaper. But Laura's at home with the boys. She knows long before me that Bryson won't just grow out of this. So at that time you were at work. I was the one who was at home, you know, trying to help support Connor and getting to his school, his appointments, support Connor in getting to his school, his appointments, his special activities,

and now had Bryson's, all of these new appointments that I didn't imagine having to have and taking him to many of these. You accompany me to some, but there was a limit to what you could do and still keep your job and manage. So I think every one of those appointments slowly started to kind of erode my confidence in thinking that, in being optimistic. So her period of mourning begins way before mine. Because that's what this is, a kind of mourning. No, for sure there's an acceptance phase. It's probably similar to those stages of grief that people go to when someone dies. I mean, you have to let go.

It is a death in a way. I know that sounds probably overly dramatic, but you picture your life and what it's going to be. And you want the best for your kids, And you know you can't protect them. And I know that now. I can do what I can do. But the universe has other plans. But you have to reimagine what your life is going to look like. So you have to go through those stages of grief.

You have to let go of what you thought you had. And now really truly accept and see what you have in front of you. You also don't know how to do it. There's no guidebook. There's often no help. And the help that you do get is really sincere and authentic, but it is still limited. Thank you. The years pass, and doctors still don't know what's wrong with Bryson. So they test. And test. And test. Dozens of tests, each one to rule out a horrible illness.

We wait for the results, sometimes for months. And while we do, we Google the things he's being tested for. Angelman syndrome. Fragile X. Smith-Lemley-Oppitz syndrome. Pompeii syndrome. Rett syndrome.

Prater-Willi syndrome. ATRX syndrome. Some of these are degenerative. Some would kill him. One of the scariest possibilities the doctors want to test Bryson for is SMA, spinal muscular atrophy, a rare genetic disease that can kill babies before they reach their first birthday. Of all the diseases Bryson has tested for, that's the one that stands out.

I was worried about this particular test and really anxious to get the results back. And I was told once we did the blood draw that it would take, I think it was three months to get the results back. Yeah, three months. They sent many of these tests to U.S. labs, and there seems to be no rush to get them back. Laura has this big paper calendar where she keeps track of all Bryson's appointments and when we're supposed to get test results. where she keeps track of all Bryson's appointments and when we're supposed to get test results.

And so I would put those things on my calendar and I'd tuck them away in my brain and really try not to think about it. But as the date came closer to that three-month mark, I was getting more and more anxious. And I thought, you know what? Sometimes they just don't call. Or, you know, maybe if I call, they'll have it in, and they just haven't gotten around to calling me yet. So 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, okay, and I hung up the phone and was very anxious. And because of that reaction, it really felt like felt like don't call us we'll call you and I don't usually accept that but you start to get a little broken after a while of all these

follow-ups and and kind of being told um you're not in charge if somebody else is in charge and so I waited another month and I called again and I talked to the same nurse and she said yeah like I said don't call like we'll call you when the test comes back if you haven't had a call yet it's obviously not back and I pushed this time because now I'm really scared wondering why is this taking so long I was told three months it's four four months. I get it. There's delays. And I pushed her and she said, okay, hang on. Let me, I'll go look in the file. And a few minutes later she came back on the phone and she said, yeah, I don't see that test having been ordered. Um, there must've been some mistake. That test hasn't been ordered for Bryson did you want it done and I said I kept it together for a couple minutes and I said yes I do want to get that done that was

ordered if you could follow up she said she would and I can remember hanging up the phone and then just sliding down the wall tears streaming from my eyes devastated at the grief and anxiety that I had already been through for four months waiting for this answer to have been dismissed and now I was going to have to wait another three to four months to find out and it felt, like too much to bear. And I was alone at that moment and felt very alone in my grief. So we were told to wait for another three months to find out if Bryson had this rare condition in which life expectancy is measured literally in months. Half a year after Bryson's neurologist first recommended that he get tested for SMA,

we finally learn he doesn't have this deadly disease. Which is great. Except that we're no closer to a diagnosis. But two of the tests do provide us with some early clues about Bryson's condition. Sometimes when a baby has hypotonia or floppy baby syndrome, it's because there's an abnormality in the muscles. Muscular dystrophy, for example. So Bryson's doctors want to do a biopsy.

They tell us it's a standard procedure, but I mean, they're slicing a chunk of muscle out of his thigh. We're terrified when we say goodbye to Bryson in the pre-op room. No matter how standard this procedure is, I can't help but worry that something might go wrong, that this might be the last time I see my little guy. So it's a huge relief when doctors come back and tell us that the surgery is complete and everything has gone well. When the results come back a few weeks later, we learn Bryson's muscle tissue mostly looks normal. So the reason his muscles aren't working? It's not because there's something wrong in the muscles.

It must be because something's not right in Bryson's brain. So doctors order up an MRI, which in Bryson's case also involves sedation. One of the things they're looking for is to see if his brain has the right structure. If a brain is too smooth, if it doesn't have enough folds and ridges, then there's not enough surface area to maximize the brain's cognitive power. Researchers have learned a ton in the past couple of decades about the brain's ability to rewire itself, after a stroke for example. But a smooth brain? That puts serious limits on a brain's capacity to rewire itself, after a stroke for example. But a smooth brain? That puts serious limits on a brain's capacity to rewire itself and to work around a disease. But the MRI results show

Bryson's brain is shaped just like anybody else's. So what do we know so far? We know Bryson has a condition that affects his brain and muscles, but we also know that as far as doctors can tell, Bryson's brain and muscles look normal. We've been able to rule out some pretty scary diseases, but beyond that, Bryson's condition remains a complete and total mystery. We set aside our dreams of having that big family of three or four kids. If Bryson's condition is genetic, there's a good chance he inherited it from one of us. And we worry about passing it on to another baby. That maybe we couldn't handle looking after so many complex needs.

That it wouldn't be fair to Connor and Bryson. We look into international adoption, but that's not straightforward either because I also have health challenges, chronic kidney disease. I don't think of it as a big deal. I have to go in for regular tests and appointments just in case things take a turn for the worse. And maybe someday I'll need a transplant or dialysis. But because it's a chronic illness, adoption becomes more complicated. As much as I love my two boys, I long for a daughter. But that's a dream I set aside. That's a dream I set aside.

It feels like Bryson's entire life is one doctor's appointment after another. I spend hours each month in doctor's offices, but it's nothing compared with how much time Laura and Bryson spend there. with how much time Laura and Bryson spend there. When you're waiting to see a specialist, say the ophthalmology clinic at the Hospital for Sick Children, it's not uncommon to wait three hours for a 10-minute visit with the doctor. I wouldn't give up the Canadian system of free healthcare for all for anything. But rare disease parents I know in the United States tell me long waits are far less common in that country.

One day, Laura and I are driving Bryson to a neurology appointment. Traffic is bad and we're running late and it's stressing me the hell out. I'm worried we'll miss our appointment and have to wait weeks or months for it to be rescheduled. We arrive at the hospital just as the appointment is about to start. But as we're pulling into the parking lot, we see the specialist we're scheduled to meet with right then, leaving the hospital in his workout gear. I was so angry. It's one thing to see him leaving the building. He didn't see us, but he was leaving the building in his running shorts, jogging away

at the time for our appointment. And then we didn't see him for another three and a half hours. No. And the thing is, you're bringing a child there who has severe cognitive and physical disabilities. It's one thing, it's not respectful to keep us waiting, but it's really not respectful to keep him waiting. A child who has to deal with so much when they're in that environment. And in fact, it got to the point where every time we would drive into the parking lot of the hospital, he would start to cry because the experience was traumatic and scary and long and tiring for everybody. We are there leaving our jobs. Bryson is there missing school. You have to bring enough for them to eat to drink to be changed you also have no way of entertaining them in a way that other children can be entertained so we would sit at one of the

clinics where they would have a great video gaming system and coloring and the other kids there didn't seem to mind at all but Bryson didn't have access to that world because he couldn't write or play video games or move. And I was always so stressed that I would miss the appointment because if I went to go change him or go get a coffee or just take him for a little walk to get his mind off of where we were, to just not know. So I think that we really do need to be aware of the differences and how that contributes differently to a person's experience. And it's not just the waiting room that's exhausting. It's also the fact that we have

to keep filling out nearly identical forms at each clinic, even within the same hospital. Then, when the appointment starts, we get asked the same questions we've already answered in the forms. I don't think I'm exaggerating to say we probably answered the exact same set of questions over a hundred times. Sometimes we answer the same questions four times in a single appointment, first in the forums, then by a nurse, then by a resident or fellow, and finally by the specialist. Then we come back to a follow-up appointment three months later and answer the same set of questions all over again. The hardest questions for Laura are the ones about Bryson's delivery. You do get questions like, were you sick when you were pregnant?

How was the labor and delivery? And Bryson's delivery was much shorter than Connor's, but it was still very challenging. And he arrived face up. And so, you know, they did need to use forceps and he had a large hematoma on his head. And I worried that it was because of that and that I was too stubborn not having a C-section. Because I was very, you know, confident and sure that I needed to deliver naturally and not with C-section and that, because I was very confident and sure that I needed to deliver naturally and not with C-section. And I regretted that decision for a really long time because in the back of my mind, I truly thought that that caused his disorder and I felt very guilty about

it. I also wondered if there was anything that I had done when I was pregnant. It's a large burden. And I think also not knowing. So it's nobody's fault. If a mom gets sick or if a labor and delivery is traumatic or a baby's born early, that's not the mom's fault. But when you don't know, you have no way to grieve it, to put it into some kind of context and perspective and move on. I just had this abyss of wondering and I couldn't move on from it. It felt almost impossible, actually, to put that behind me. You mentioned like the questions about what the liver was like and whether you were sick. The one question, too, that always came up is we kept getting asked if we could possibly be related

yeah that was fun I remember the first time they asked us we both just laughed and then they looked at us seriously um no we really mean it yeah no we really mean it you have to answer this this is a question um and then all of a sudden I remember actually we had this pause and moment of worry like, oh my God, is there any chance we could be related? But no, we're not related. And we endure that question now. And we laugh with our friends of other special needs kids because they too have had that question asked several times of them. They ask this question, I later learn, because genetic diseases are much more common when parents are related. But despite all the tests and all the questions, we're still

no closer to a diagnosis. The best doctors can do is tell us that Bryson likely has some kind of rare genetic condition, but they don't know what it is. And it's possible one doctor cautions us that we may never know. Sorry, I'm just trying to fix the cord. No, it's fine. I hope you don't use this as the intro. Okay, can you start by telling me who's in your family, who you are and who's in your family? Hi, I'm Connor, and in my family is my dad, Keith, who's making this podcast, my mother, Laura, and my brother, Bryson, and also my dog, Quincy. Today, Connor is 16, and Bryson, he's a teenager. He turned 13 last August. And Bryson, he's a teenager. He turned 13 last August.

I sometimes think of Connor as having the worst of both worlds. He doesn't have a sibling he can play with. At the same time, he doesn't get the undivided parental attention that an only child is supposed to get. Because Bryson, he needs a lot of attention. Do you think that your life would be very different if you had a typical brother? No. I feel like you and mom do a really good job of making sure that my needs are also accounted for, as well as his, and keeping everything in consideration. It's just kind of something that I live with. It's not really what defines my life. As much as we try to do things together as a family, all four of us, we also take time with Connor where Bryson's needs aren't going to get in the way.

Some of my best memories are trips that Connor and I do alone, to see the Blue Jays in Florida for spring training, or our trip to Disneyland in California. Laura takes Connor on overnight ski trips, and both of us take him on a trip to New York City for his 14th birthday while Bryson stays with his grandparents and his caregiver. But still, there's always this feeling that when you're spending time with one kid, you're letting the other one down. I don't know. Maybe all parents feel that way. When do you remember learning that something

was different with Bryson? I don't remember learning. I feel like I've just kind of always known and it's always just kind of been a fact of my life. Like, because he was so young and I was, we're so close in age that my brain never really processed that at, like when I realized it at the start. I just kind of always grew up with it. And it was just sort of a fact of life that my brother couldn't talk with me. The story I want to tell you is that Connor loves Bryson deeply and would do anything for his little brother. And that's 100% true. But it's also more complicated than that. And it's not the story Connor wants to tell.

How would you describe your relationship with Bryson? It's weird. It's not something that I would... It's not honestly something that I think about a lot. I'm just kind of like his brother and he's just... I'm just thinking of how to describe it because... You know, we project things onto him. That we think that he's thinking and saying and like... From his facial expressions expressions who he likes who he doesn't like his like relationships at school but like none of us really know what's

actually happening inside his brain or what he's thinking or if he's thinking i kind of just see him as like it might sound weird or distant but he's kind of just see him as like, it might sound weird or distant, but he's kind of just there. And he's kind of just always been there. But we know, like we can see that when you're playing with him, he seems to smile more than he does when anybody else is around.

Like that's not just us projecting on him, is it? I don't know. I don't know if I'd be a completely impartial source to answer that question. We all want him to think that way, or we all want to think that he thinks that. I see it too, but again, I don't know if that's just us all kind of agreeing that that's true because it's less painful. I mean, maybe he does, but maybe that's just kind of the way his brain works. when you were younger when when me and mom weren't really sure how much he understood you were the one who always really thought that he understood everything that we were saying no you're not sure i was very naive as a kid i like to believe a lot of things that looking back

i know weren't true because well it makes your life more interesting, right? Like, you know how you imagine as a kid that you're in this giant magical fantasy world and that everything's gonna work out perfectly. But, you know, as you get older, you start to use your reasoning and realize that maybe not everything's gonna be as perfect as you think it was. Bryson is more than his mystery disease. More than his tests and appointments. Hi Bryson. Hi.

Hi. Hi Bryson. What's so funny? As he grows up, we come to know Bryson as an expressive, loving little guy who understands much more of what's going on than he's able to communicate. Are we going to have a good day today? Are we going to have a good Sunday? He seems to understand conversations around him and the questions we ask of him, even if he can't answer in words.

He lets us know his preferences by reaching forward with both hands and choosing, say between pudding or applesauce, or placing his hands in front of his mouth if he doesn't want to eat at all. Then, one day when Bryson is five years old, we're giving him a bath, something Bryson hates, and we hear him say what sounds like the words, all done. It's shocking at first, and we assume we must be hearing what we want to hear. But over the next few weeks, whenever we're trying to get Bryson to do something he doesn't want to do,

he makes the same sounds, sometimes in rapid-fire succession. As the years go by, he picks up four or five more verbalizations that are approximations of words. Mmm for mom. Dad for dad. Non for Connor. When he's going through a seizure-like episode, he'll sometimes say, Ed, Ed. Laura and I think he's telling us his head feels strange, but Bryson's caregiver Edna, she thinks he's calling for her. But none of these are as reliable as his ah-done sound.

As much as I try, I can't get him to say these other words on demand when I have the tape recorder running. Bryson is also a strikingly handsome little guy. He's far too thin. It's a constant battle to get him to consume enough calories. But his face is gorgeous. Perfect features nestled under fine golden hair. His grandmother says he has the face of an angel.

And okay, she's biased, but strangers also come up to us in the mall and tell us how beautiful he is. Bryson spends his days at a public 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. instead of getting on the school bus to go see his friends. Oh, and one more thing you should know about Bryson. He loves the Toronto Blue Jays. At least, we think he does.

I'm a big Blue Jays fan, so maybe I'm projecting, but when he's little, Bryson doesn't seem to be interested in television except when I'm watching baseball. And then he turns his gaze to the television and watches intently. You wonder if it's the bright green color of the grass or astroturf that Bryson is drawn to. But when I start taking him to games in the wheelchair seats behind home plate, Bryson seems to love that too. Usually he hates crowds and loud noises, but there's something calming for Bryson about being at a Jays game. So even though Bryson doesn't really talk, I feel like I know him pretty well. But there's still so much I don't know. For example, what does he think about me doing this podcast, making his private life so public?

podcast, making his private life so public. I know some of you will say I shouldn't be doing this, that Bryson has a right to privacy, that this is his story to tell, and I get all that. I've asked Bryson if it's okay to do this podcast, but I don't know if he understands. He just looks back at me with his big blue eyes. But if telling Bryson's story could help to find a cure, one that could give him independence he doesn't have now, one that could someday allow him to tell his own story, wouldn't he want that? Wouldn't it be worth it? Hey Bry, can I talk to you about something?

You know how I'm doing this podcast, Bricey, and I'm talking about you? I want to tell you something about that, okay? Sometimes I talk about how we're trying to find a cure for you. And I want you to know that it's not because I think that there's anything wrong with you. I think that you're perfect. Yeah, and I wouldn't want any other kid. I don't want to change who you are. But me and mom are working with scientists to try to see if we can find medicine that will make things easier for you. We want you to be able to tell us what you need and when you're hurting. And we want you to be able to move yourself around

either by walking or by moving your own wheelchair. And we want you to be able to make your own choices about your life. Does that sound good? Is that okay? I love you. And maybe telling Bryson's story can help others too. Because here's the thing. Rare diseases aren't actually that rare. There are thousands of them. Most estimates say there are somewhere between 6,000 and 8,000 rare

diseases. They're defined as a disease that affects fewer than one in 2,000 people, which means that in theory, a rare disease could affect nearly 4 million people around the world. Roughly the population of Alberta or Oregon. Health Canada estimates that 1 in 12 Canadians has a rare disease. Roughly the same fraction of people who are left-handed. So yeah, the chances are pretty good that you know people with rare diseases. If you don't have a friend or family member with one, you're probably in the minority. My mom has four grandkids and three of them have rare diseases. In addition to Bryson, my two nieces both have a rare genetic disorder known as

periodic fever syndrome. So I take strange comfort in knowing that as isolated as we feel sometimes, strange comfort in knowing that as isolated as we feel sometimes, having a kid with these severe and debilitating conditions and no diagnosis, we're not alone. There are hundreds of thousands of other parents just like Laura and me, waking up each day and hoping for a diagnosis, praying for a cure. And that's not even counting the millions more who are praying for cures for diseases that aren't so rare. Who hasn't been touched by a family member suffering from cancer or dementia or diabetes or heart disease? Who hasn't prayed for a medical miracle for someone in their lives. Before Bryson was born, I wrote about marketing for the Globe and Mail newspaper.

I spent a lot of time chatting with the bigwigs in the ad business, the Don Drapers of the 21st century. Arthur Fleischman was one of those guys. He ran John Street, a hot boutique agency in Toronto. People would talk about John Street because of its ads, and they'd talk about Arthur because of his daughter. From what I heard, Arthur's daughter Carly had the most challenging kind of autism. She couldn't speak or write at all, kept her parents awake all night, and had these violent episodes.

Laura was pregnant with Bryson when I first heard about Carly, and these stories frightened me. I felt lucky to have one healthy child at home and didn't think I'd have the strength to deal with a sick kid. I prayed for another healthy baby. Then Bryson was born. I left the Globe and Mail and lost touch with Arthur. But a few years later, I heard about Carly again.

After a decade of silence, Carly sat down at a computer one day and started typing. Not just random letters, but words. A sentence almost. Help, she wrote. Teeth. Hurt. The rest of her family was away on vacation when it happened, and the breakthrough was so far-fetched they were sure Carly's caregivers had it wrong.

But over the next few months, the typing continued, and it became clear that Carly was a bright, funny kid who'd simply been unable to communicate until now. Carly's awakening generated news coverage around the world. She wrote a speech for her bat mitzvah, and Ellen DeGeneres read it on video, literally becoming Carly's voice. There's a young lady named Carly, and you know who I'm talking about, Carly. She's my friend. Carly appeared on The Late Show with Stephen Colbert, starring Carly appeared on The Late Show with Stephen Colbert and started her own online talk show, interviewing her favorite celebrities. I would like to introduce you to my first guest ever. He has been a stripper, a police officer, a secret agent, a reporter, a boyfriend to many, and soon he will dump his wife to be with me. I welcome Chan Tatum.

Hi. Hi. How about that, Channing? Would you date a 21-year-old person with autism? Yes, if I got permission for my life. All right, I've got my lawyers working on your divorce papers as you speak. Carly's story gave me hope for Bryson. Could it be possible for us to unlock Bryson's brain?

I became obsessed with these stories of medical miracles. There was Martin Pistorius, who developed an inexplicable illness and was unable to move or communicate for years. Doctors told his family he had the mind of a baby. Then, at age 26, he had his own medical breakthrough and started communicating through a computer. It turned out he had been completely aware of everything going on around him for more than a decade, but was unable to let anyone know. And then there's the story of Lorenzo Odone, a healthy kid who suddenly developed adrenoleukodystrophy or ALD. In 1992, they made a Hollywood film about his story called Lorenzo's Oil. His parents, called Lorenzo Zoil.

His parents, played by Nick Nolte and Susan Sarandon, were told there was no cure and he had just two years to live. But they refused to accept the diagnosis and took on the medical establishment, represented in this scene by a doctor played by Peter Ustinov. Of course I anguish for the suffering of your boy. And of course I applaud you for the efforts you make on his behalf. But I will have nothing to do with this oil.

We are not asking, doctor, for your anguish or your applause. We are asking merely for a little courage. There are scenes in Lorenzo's oil where he's thrashing around the room in pain. And it reminds me of Bryson in one of his violent seizure-like episodes. In the Hollywood version of Lorenzo's story, there's a happy ending. His parents discover they can make Lorenzo better by feeding him a mixture of food oils. But the real-life story goes on after the movie ends, and it's not quite so happy. Lorenzo died in 2008. He was 30. And the oil didn't work for most kids with ALD the way it did for him.

But even though I know that, I want to believe. I want to believe in the miracle of Lorenzo Odone and Carly Fleischman and Martin Pistorius, because then I can believe in a miracle for Bryson. But after nearly a decade of testing, it feels like we've hit a brick wall in our search for a diagnosis. A single test to check Bryson's blood for dozens of rare genetic diseases has come up empty. After so many ups and downs, you can forgive me for giving up hope. I don't remember when exactly, but at some point I come to accept that we'll probably never get a diagnosis, that we'll probably never be able to find a cure,

that Bryson's treatments will be limited to physiotherapy and speech therapy, and that we won't know if this is a disease that will allow Bryson to live a long life, or one that is degenerative. One, and I hate to even speak these words, one that could kill him before he becomes an adult. Then, a couple of weeks before Christmas in 2015, Laura gets an email that will change our lives forever. She said, we received the results back and we'd like to see you and Keith because something has come.

Or we have a diagnosis. We think we have a diagnosis. And I remember my heart in my throat, like just thinking, this can't be real. I was at work when I read it. And I just thought, how, are you kidding me? Really? How can this be? And then I remember thinking, okay, I can wait for the appointment. She made it very quickly I think it was in like a few days maybe it was Monday and that was Friday something like that and but I I emailed her back and I just said can you just tell me or can we have a chat on the phone I just need to know if it's degenerative and I

can wait for the actual diagnosis you don't have to tell me what it is but please just tell me if it's degenerative because I need to know if it's degenerative. And I can wait for the actual diagnosis. You don't have to tell me what it is, but please just tell me if it's degenerative because I need to know that right now. Coming up on Unlocking Bryson's Brain, a chance to finally unmask Bryson's mystery disease, and cutting-edge science, CRISPR, changes the way we think about Bryson's future. Oh my gosh, okay, we have to do something here. Because maybe science is ready for this. While raising new questions about ethics and safety. We don't have a good track record of our ethics keeping up with our technology.

keeping up with our technology. You've been listening to Unlocking Bryson's Brain, a new podcast about one family's search for a medical miracle. If you like what you hear, Episode 2 is available right now. You can subscribe for free wherever you get your podcasts. For more CBC Podcasts, go to cbc.ca slash podcasts.