For Bowen: Fragile X diagnosis propels family into advocacy and drug discovery

Nick
Bowen’s dad

_“When Bowen came into the world, he wasn’t breathing. I remember so clearly the doctor rubbing his back and fussing over him, trying to get his lungs going. It had been a very difficult birth for my wife Sam and she was not lucid at all in that moment. So, even though it seemed like 100 nurses were in the room, I felt alone. When Bowen finally took that first breath and they wrapped him up and handed him to me, I started crying immediately. He was perfect.

By the time we got Bowen home, it almost seemed like he was too perfect. He was so chill. Such a good sleeper. Such a good eater. He didn’t even cry. Bowen was our first child and we were just so relieved, after the scare he’d given us in the delivery room, that we didn’t stress about it at all when he was behind on his first couple of milestones. Sure, he wasn’t babbling yet and he wasn’t rolling over, but he was healthy and happy and he would catch up eventually.

But the months kept going by and the missed milestones kept piling up. By the time Bowen should have been taking his first steps, he was just barely sitting up. Finally, as he approached 18 months, we knew we couldn’t hide from it any longer and so we saw a specialist and agreed to run some genetic tests.

By this point, Sam was already well into her second pregnancy, and we were still waiting on results when our daughter Pepper was born. Sam was actually on her way down to Florida for a little getaway with her parents and baby Pepper when she got the call. The results of the blood test had come back. Bowen had Fragile X syndrome, which would likely involve significant intellectual disability throughout his life. Sam called me in tears from the airport.

I’m not going to lie, it was a very rough day. A lot of emotions, including plenty of anger. I found a flight the next day so that Bowen and I could meet up with Sam and Pepper in Florida and we could all process the news together. We spent a week in Fort Lauderdale, soaking in the ways our lives had suddenly changed, and it ended up being the best and most therapeutic thing we could have possibly done. We returned to Toronto as a team, ready to figure out what our new future was going to look like.

And the future has turned out to be pretty great. Bowen is five now and he keeps amazing us. He loves to ski, he loves to swim, and he’s so excited about junior kindergarten. He’s like a little celebrity at school with how openly all the other kids have embraced him. More than anything else, we just try to parent him like any other child and not put limits on him. It’s not up to us to determine what Bowen is capable of. He’ll show us.”

Sam
Bowen’s mom

“When I got the call that Bowen had Fragile X, my first thought was that it sounded like a superhero. That’s how little I knew about the condition. Through all the assessments and tests, no one had ever brought it up as a possibility. Looking back, though, with four years of experience as a Fragile X mom, the signs were all there. The missed milestones, the way he flapped his hands, the distinctive facial features. There’s so much I know now that I wish I’d known then.

Not least that this is a genetic condition and, because it’s on the X chromosome, I am necessarily a carrier myself. If we’d known I was carrying the gene before getting pregnant with Bowen — or especially before getting pregnant with his sister Pepper — we could have considered IVF or other ways to mitigate the risk.

Since getting the diagnosis, everyone in my immediate family has been tested. It turns out the mutation came from my mom’s side, and my sister also has it. There’s definitely a history of learning disabilities and mental health challenges in my family that had gone unexplained until now, but nothing that had ever been particularly alarming. I see all of it in a very different light now.

We’ve made the decision not to get Pepper tested. Fragile X presents completely differently in females than it does in males, often with no outwardly noticeable impacts at all. So, unless Pepper starts showing signs of struggle or delay, it feels better for her that we not know. Pepper’s three now, and not one thing about her has given us cause for concern. She’s such a good and loving sister to Bowen. She acts like a big sister already, watching out for him, playing with him, helping him communicate. She does get away with a lot, though, if I’m honest. Sometimes Pepper will come to me and say, “Bowen wants a cookie” and I’m like, “Hmmm, are you sure it’s Bowen who wants the cookie?”

Certainly, when Pepper’s older and starting to think about a family of her own, she’ll want to know if she’s a carrier, and we’ll encourage her to get tested then. And I’m reassured knowing that she’ll be able to make her own decisions armed with knowledge I didn’t have, and with the personal experience of having known Bowen all her life.

And knowing Bowen is such a treat. He’s the most delightful little guy who loves everyone, and people can’t help but love him back. We walk into the grocery store and he points at literally every person saying, “My friend, my friend.” And it’s like, “Yes, Bowen, everyone is your friend.” How could they not be?

In the early days after the diagnosis, I remember being so sad because of the hopes and dreams I’d had for Bowen and all the things he was going to miss out on. But now it’s very clear that Bowen’s not going to miss out on anything. We do still carry a lot of hope that research and new therapies might change the course of Bowen’s future, but our biggest priority as parents always has to be supporting Bowen as he is today. And Bowen as he is today is so happy.”

Jeff
Bowen’s papa

“I’m very lucky to have four grandkids and to have very cool relationships with all of them. But Bowen was the first, and he’s the only boy, so there’s always been a special connection there. Since Bowen was very young, I’ve been thrilled to get to spend so much time with him, at home, at the cottage, and especially on the ski slopes. Skiing has always been the glue that holds this family together and Bowen took to it immediately. He’s so happy when he’s out on the slopes.

I think a lot about how, in decades past, kids with mental disabilities from conditions like Fragile X were hidden away and isolated, and what a loss that would be for someone like Bowen who’s so engaged with the world. My wife Shelley and I decided very early on that we were going to do anything we could to help Bowen live the best and most independent life he can.

So much of that comes down to creating a supportive environment where he can thrive, and that’s something that Nick and Sam have done exceptionally well. There’s also a whole suite of therapies and medications that can help manage the symptoms of Fragile X, so Bowen’s not fighting battles he doesn’t have to. Still, we couldn’t help but wish there was something more. A curative therapy.

I started digging into the research and learning everything I could about the state of the universe with respect to Fragile X treatment. I immersed myself in the wider community and met all the thought leaders, all the movers and shakers. Taking the lay of the land in this way is something that comes naturally to me from my long career in research-based investing. And so, when I came across a truly promising research project, I saw an opportunity to leverage my skills and resources and time to make a huge difference. Not only for Bowen, but for the many others I’d since met in the Fragile X community, all of whom were eager for a breakthrough.

Fragile X is a complicated condition, but one of the most significant drivers of cognitive impairment in Fragile X individuals seems to come down to an inability to naturally produce one specific protein. So I founded Bowen’s FX Therapeutics with the goal of accelerating a novel protein replacement therapy to market as expediently as possible. If successful, this treatment could potentially do for Fragile X what insulin has done for diabetes. We’re 18 months into this project now and I can already say this is the most purposeful thing I will do in my life.

My big hope, obviously, is that Bowen’s FX Therapeutics will produce a disease-modifying therapy on a timeline where it can be a benefit to Bowen and the many others already living with Fragile X. Or that some other project will leapfrog us to a solution faster. Everyone in this community is working toward the same goal, and we’ll all be thrilled when anyone crosses the line.

What matters most to me, though, is that Bowen be able to live a happy and independent life, making his own decisions and charting his own path. The state of research drives a lot of optimism on that front, but so too does the look of pure joy on Bowen’s face when he’s out on the ski hill surrounded by family.”