‘This is hell,’ my husband sobbed. We shouldn’t have googled his potential diagnosis. ‘It can’t be real!’: Son diagnosed with rare Noonan Syndrome, ‘Our feelings for you never changed’

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“Dear Harrison,

I know you’re busy racing cars and building Lego cities and picking dandelions, so I’m writing this letter for you to find when you’re ready. I want you to have concrete proof about who you are and what you have overcome, and how no labels will ever change that. I’ll be here to remind you, always.

The day had finally come, a fresh spring day in 2016. After months of blood, sweat, tears, and prayer, you had crossed the halftime finish line inside my burgeoning belly, and we were about to find out how you were doing. Get a hint of who you might become. The very air around us felt heavy with joy and anticipation! There was a party, with our friends and cake and recordings of this historic moment. The cake said: blue! The ultrasound said: something is wrong. The air has been a little harder to breathe since that moment. It makes sense. We were about to step foot on a planet we’d never been to before, and we had not packed properly.

Courtesy of Carly Hutton

For almost 2 months, we learned all we could about Down syndrome. ‘This potential diagnosis changes nothing in how we feel about him, but we want to know how best to take care of him,’ we told everyone. And every day, I grew bigger, felt sicker, and wondered how much longer I would be able to remain upright.

Our doctor noticed my uncharacteristic growth as well, so we took a special trip to a special hospital, driving for hours in a truck with no air conditioning and no distractions. Baby, I thought we would melt like an ice cream cone. But we are both stronger than I thought. ‘We’ll be back in a week!’ we told our friends.

We were gone for four months.

You see, my little love, your heart was working so hard to beat as fast as it could you made your swimming pool inside Mama about 4 liters too full! All of that water made my body very stressed and very tired. I am now surprised I didn’t give birth to you on the trip down, but I am oh-so-glad I did not. I breathed a sigh of relief every time you succeeded at staying inside for another day. Every week brought new surprises at our hospital appointments. I would have fluid drained out and you were okay with it. No matter how much water you had, you swam. I spent all day lying down and you would dance, making me laugh and grimace at your antics. And four years ago, almost to this day, we learned you did not have Down syndrome after all.

Our team was perplexed. ‘We don’t usually see so many markers for Down syndrome and not have Down syndrome in DNA results. You should prepare for a NICU stay after Harrison is born because we’ll need to run every test we can on him.’ The days that followed were full of actively pushing fear back into the corners of our minds. Knowledge had been our power until now, until all we knew was wrong. If even one of the best medical teams in the country didn’t know what they were seeing in you, how could we equip ourselves to give you the life you needed?

On September 17, 2016, ten days before your due date, little champ, we met you face to face. You didn’t cry, and I learned later it was because you’d had the cord wrapped around your neck. They laid you on my chest and I looked into your gorgeous black eyes for 15 seconds before they wheeled you away. I wouldn’t see or touch you again for another 18 hours. I missed you so much, and yet, I wondered if you’d even been real.

Courtesy of Carly Hutton

But indeed, you were real. And you were tiny and perfect, in a way that made it seem especially cruel to subject you to daily blood draws, scans and tests in an effort to find out what was ‘wrong’ with you. I hope you are able to forget the NICU better than we are – the constant cacophony of crying, bright lights, beeping machines, emergency surgeries happening in the crib next to ours, the Family Info boards that indicated MONTHS had gone by since arrival. Would that be us as well?

Courtesy of Carly Hutton

After two weeks of no answers, our team approached us. ‘Based on his skeletal structure and his heart condition, we think Harrison may have Noonan Syndrome.’

We had never heard of this before; most people haven’t. We shouldn’t have googled it. To know for sure, there was one blood test they could do, one that hadn’t existed 6 months before. We agreed and they took a sample from me, from you and from Dad. We waited. The results came back positive. You were officially diagnosed with Noonan Syndrome, and we went home after 23 days in the NICU.

Courtesy of Carly Hutton

What did it mean for us now? Well, your growth would probably be slower than other babies. You would need heart checkups every few months, and you needed medicine to slow your heart rate down. You still take it now, three times a day. You might have trouble walking or talking or eating or going to school, but mostly, it was one big question mark. We wouldn’t know until we knew. This planet was uncharted. What we know now is that there are four main types of Noonan Syndrome, and they all affect the body in different ways. It can show similar markers to Down syndrome on a scan, but instead of adding a chromosome, it deletes one from a random pair of genes in your DNA. So every single person with Noonan Syndrome is unique, but they all have one thing in common: they are scrappy as hell. Thank God.

Courtesy of Carly Hutton
Courtesy of Carly Hutton

Your strength and determination and — to be honest — short temper has shown us who you are from day one. You are tiny but mighty. You are a force to be reckoned with so it was particularly noticeable when one day last year, you stopped walking.

After a year of independent strides, you couldn’t move without shaking and crying. You felt better lying down and you did this a lot. We weren’t immediately worried. We had your sister Evie’s first birthday party to plan, and you were probably going through a growth spurt. You always bounced back.

Courtesy of Carly Hutton

A week went by, and you only got worse. We took you to a local hospital and they figured you had an ear infection that was throwing off your balance. It made sense, and we wanted it that way. You started antibiotics, and days went by with no change. Finally, we sent a video of you trying to walk to a Neurology team at our Children’s Hospital. Even though they didn’t think it was a ‘neuro thing,’ we and our pediatrician insisted on a transfer immediately. At the very least, our heart doctor could see you and you’d be in the place that has known you since you were born.

Courtesy of Carly Hutton

I made a Facebook post on a Noonan Syndrome page we’d been following for a while. ‘Has anyone ever seen anything like this before? What do we do?’ And a mom from Australia with fatal experience responded, ‘Insist on a head CT. It sounds like hydrocephalus.’ Fluid on his brain? What could cause that? I spent the bumpy ambulance ride planning what I would say to the neuro doctors who doubted us and trying to console you as you screamed in the backseat.

What followed was the worst week of our lives. You were tested and poked and prodded and you didn’t get any better. I mentioned a head CT, MRI, hydrocephalus — knowing each day that went by increased your risk for fatality. ‘If it comes to that, we’ll scan his head. We just want to rule out everything else first. Those scans require sedation, and that can be hard on his heart.’ But something inside me just knew.

Courtesy of Carly Hutton
Courtesy of Carly Hutton

It wasn’t until you spent 30 seconds with your eye doctor I started feeling listened to. She looked into your eyes and even as you writhed and screamed, she took off her headgear and said, ‘There is fluid putting pressure on his eyes. He needs an MRI immediately.’

Victory. But at what cost?

Courtesy of Carly Hutton

You were gone for 2 hours; it felt like an eternity. When you were brought back into our room with a whole neurology team who wanted to take Dad and I to a conference room, my knees went weak. We’d been part of this hospital life for almost 3 years. This had never happened before. I could almost feel the atmosphere around me change again as I stepped into the room and somehow landed my body in an ergonomic chair. ‘The scans showed three brain tumors, which are blocking the pathways for his spinal fluid and making him unable to walk. Unfortunately, because they are behind his eye and wrapped around his brain, they’re almost completely inoperable. But there are other treatment plans we can pursue. We’re so sorry.’

Courtesy of Carly Hutton

They shared various chemo options, medications, and surgeries but I barely recall a word. How had we missed this? They left us to talk on our own, subtly pushing boxes of tissues across the table in our direction. As soon as the door closed, we fell into each other’s arms weeping, trying to breathe on this new, godforsaken planet.

‘This is hell,’ my husband sobbed. ‘I’m dead, and have woken up in hell. This can’t be real.’

‘Steve… what are we going to do? How are we ever going to be okay again?’

A year later, Harrison, I can tell you with confidence we are still not okay. You’ve had six brain surgeries and spent the equivalent of 9 weeks admitted to hospital since that day. You finally have a shunt that works, and you’re back to all of your normal activities. Your new scars do not hold you back in any way. All of your hair has finally grown back, and you’ve managed to remain stable safely tucked away at home during a global pandemic.

Courtesy of Carly Hutton

Dad and I lose ourselves in the routine, making sure you and Evie eat, play, feel loved. We try to keep our fights and tears and struggles behind closed doors. It’s hard to live in the limbo of not knowing how many days we have left with you. The flames of hell do their best to choke out love and some days, they win. But as we said from the moment we saw your ultrasound, our feelings about you never change at all. We just want to know how best to take care of you.

Courtesy of Carly Hutton

You don’t know this yet, but for the past year, we’ve been fighting to have your case considered for a radical, brand new treatment that could fix your heart and maybe even shrink your brain tumors in the process. Only two other kids have tried it, with 100% success. It’s not lost on us just as the blood test which confirmed your Noonan Syndrome was brand new then, you could be part of a groundbreaking medical discovery.

Courtesy of Carly Hutton

This possibility, and your smile, is the only hope we have left. Sometimes, I allow myself to imagine a future where you are as tall as I am, hanging out with your friends at school, and they’re laughing at a great joke you just told. For a moment, I can breathe.”

Courtesy of Carly Hutton

This story was submitted to Love What Matters by Carly Hutton from Vancouver, BC. You can follow their journey on Instagram. Do you have a similar experience? We’d like to hear your important journey. Submit your own story here. Be sure to subscribe to our free email newsletter for our best stories, and YouTube for our best videos.

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