What My Nephew's Rare Diagnosis Taught Me About Family


“I’m pregnant.”

The words came without warning. She simply dropped them into a lull in the conversation as though she were making an everyday observation. She might have said it was supposed to rain the next morning. Her tone was light and perfectly calm, her expression serious.

I was stirring something in a pot on the stove, and I turned abruptly, my wooden spoon leaving a trail of liquid across the kitchen tile. I looked at my sister-in-law intently, searching for a hint of humor beneath the surface, a sign she was messing with us.

There was none.

“You’re… joking?” I asked, falteringly.

She shook her head.

Heather’s pregnancy came as a shock. She had thought her family was complete. But God – he was on another page. He had something special in mind for Heather, Jon and their two girls. Or rather, he had them in mind for someone else.

Seven months later, after months of morning sickness, a challenging bout with gestational diabetes and burgeoning worries when third trimester ultrasounds showed that Heather’s placenta was calcifying, Rhyse Addyson Cole entered the world. He came quickly, both during labor and at the end of it, his father catching him like a football as he exited the birth canal in a rush of life-giving fluid.

We went to the hospital the afternoon of his birth, the entire extended family crowding into Heather’s postpartum room, passing the newest member around like a shared treat. He was the tiniest baby I’d ever held, a mere five pounds, four ounces, with swirls of surprising red hair that led Heather to joke that maybe he was really the mailman’s son. Jon’s smile was the widest we’d ever seen it.

Rhyse charmed us all that first afternoon — his tiny, perfect face relaxed and calm, his eyes seeming to take the measure of each of us like a wise old soul. Both Eli and I snuggled him close and smiled at Heather’s hints to us that Rhyse needed a cousin close to his age. We had no idea that we were already pregnant. We drove home from the hospital feeling nothing more than a deep thankfulness that this longed-for and deeply loved little boy had safely arrived.

My phone rang just before 5 a.m. the next morning, pulling us from deep slumber. When I saw Jon’s name on the caller ID, I came fully awake with a jolt. Even before I answered, I knew there could be only one reason for Jon to call so early. Something had to be wrong with Heather or the baby.

The days and weeks that followed were filled with mystery as the doctors searched for an explanation for Rhyse’s unique medical state. A fearsome low blood platelet count spurred the hospital OB to rush Rhyse via ambulance to the nearest children’s hospital. Finally, after six weeks in the NICU that involved countless tests, numerous platelet transfusions and all kinds of other medical intercessions no infant should have to endure, Heather and Jon received a tentative diagnosis, one that would require further testing before it could be made formal. Rhyse had Noonan Syndrome.

Noonan Syndrome. None of us had ever heard of it. Heather and Jon had to educate themselves out of necessity, and they did their best to educate the rest of us in turn. In the end, all we could really be sure of was that nothing was certain. Noonans looks different on every child, and we had no idea how it was going to look on Rhyse.

It’s been over two years since Rhyse was diagnosed with Noonans, and it’s safe to say he’s become the light of our collective family life. He has proven himself hardier than any toughened adult, undergoing constant assessment and treatment for everything from feeding issues to breathing problems. He has a team of twelve specialists who are regularly reassessing his needs. He has a G-tube. He gets twice daily steroid shots to help him grow and will continue to do so until he’s 18 years old. He gets nightly breathing treatments and will soon have both his tonsils and adenoids removed in order to improve his ability to breathe while he’s lying down. But these medical pieces, while they are a big part of Rhyse’s life, do not define him. Far from it.

What does define him? The same things that define any 2-year-old. Bottomless curiosity. The desire to make his own place of significance within his family and his world. That unmistakable toddler mix of courage and timidity. The hunger to be heard, understood, respected and valued.

When we think of Rhyse, we don’t think of Noonan Syndrome. We think of our spunky red-headed nephew with the unshakable sense of humor. The one who loves and fights with his older sisters like any little brother. The one who loves to tease his daddy. The one who, in spite of delayed verbal development, communicates his needs, wants and feelings as clearly as can be. The one who loves cars and trucks as though it’s in his DNA. The one who is bright and intuitive and can read the atmosphere in a room as well as any psychologist. The one who wants, just like any other child, to be loved and snuggled and teased and talked to.

We live halfway across the country now, and most of our time together consists of sending each other videos or making time to Skype. When we do, we don’t see a sick child, or a struggling child, or an abnormal child. We see a happy, active little boy yelling and running and playing and just having a ball being alive. He and our daughter, Lili, who is 9 months younger, wave to each other gleefully across the miles, always excited to see each other, even if it’s only via a computer screen. Indeed, Lili’s favorite “TV show” is Rhyse’s YouTube channel.

 

And his parents? His sisters? No one, no one, could love Rhyse, could care for him, the way they do. Even at the end of a week wherein there have been gas bubbles in the G-tube and episodes of throwing up formula all over the minivan, hours spent in a specialist’s office that end in yet another tweak to the care plan, and midnight visits to the emergency room — even when it feels like there’s nothing more that could possibly go wrong, none of it can cancel out the love shared between the five of them.

Noonans doesn’t stop them from being a family who goes to the library and the bookstore and the zoo and the beach. A family with a swimming pool and a trampoline in the backyard. A family who goes on hikes and bikes rides and trips to the ice cream shop down the street.

It’s still not clear what Noonans will mean for Rhyse long term, what he’ll be able to do or be as an adult. What is clear, however, is that Rhyse is exactly where God meant for him to be – cradled in the bosom of a family that, while as imperfect as every other family, is perfect for him.

This post originally appeared on Team Noonan Blog.

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