My Metamorphosis in Parenting a Child With Rare Disease

I caught myself turning up the radio in my car the other day to gently drown out my 8-year-old daughter’s voice. Sure, she was perseverating and asking the same repetitive question to which I had already provided an answer. And yes, it was about her birthday, which was months away. And no, it wasn’t entirely decipherable. But it was the excited voice of a child — my own child — who I hadn’t been sure would vocalize a word in her lifetime.

Had I forgotten where we started, or about the many miles left to go?

I didn’t know if I should feel shame, or gratitude, in that moment. Not only was I having a verbal exchange with my daughter that I generally understood, but I was finally being given the privilege to take it so easily for granted; I had been yearning for that opportunity since receiving her rare genetic diagnosis five years prior.

It’s funny how things can change.

I remember exactly where I was when I got that initial call from my daughter’s geneticist. It was an ordinary moment that quickly became a defining one, sharply separating my life’s “before” from its “after” – and marked by nothing other than a barista at a Midtown Starbucks yelling to no avail: “Julie, AMERICANO,” as phrases like “de novo mutation,” “incredibly rare” “intellectual disability,” “will not live independently,” and “may never talk” barreled through the other end of the phone and knocked me to my knees.

I never picked up my Americano that morning, nor have I been able to order one since.

For that was the moment my entire existence shifted.

The moment I gained the answers I’d been desperately seeking about my daughter’s unexplained developmental delays and simultaneously lost the hope I’d been harboring that everything would be “OK.”

The moment the life I thought I had suddenly slipped out of my grip, only to discover it was never mine in the first place.

The moment when the same parenthood journey I believed to be on — happily alongside my friends — suddenly diverged, with the roadmap for where I was going entirely unknown.

The moment when my life’s greatest joy also became my life’s greatest heartbreak.

I wasn’t ready. I hadn’t prepared. And I couldn’t understand how the world was continuing to spin, when everything in my focus was standing still. In that moment — in the city that never sleeps, amongst the hustle and bustle of the morning commute — I was alone.

What would it all mean?

Initially, it meant I’d be unable to say my daughter’s name aloud without the ever-present knot in my chest expanding and nearly suffocating me.

It meant dreading children’s birthday parties, because instead of being a celebration of another child’s life, they were a blatant reminder of how different my daughter’s was.

It meant watching my husband cry. Really cry. Especially as we tried to process what it would be like to have our daughter taken care of for the entirety of her life, as well as for ours.

It meant thinking of all of the things she’d never get to do, and that I would never get to do with her.

It meant walking away from a long-term job I held near and dear to my heart after learning that my boss didn’t hold my family’s needs even remotely near and dear to hers.

It meant feeling worlds apart from even those closest to me.

It meant drowning in duties, decisions, and most of all, doubt, about what — if anything — I was getting right.

It meant wondering when everything wouldn’t feel so serious again.

It meant questioning if I could actually do all that was being bestowed upon me — and admitting, at times, that I just didn’t want to.

It meant that instead of looking forward to the future, I started to fear it.

But as I sat in the car the other day, more than five years into that same future I feared, something had changed. A lot had changed, actually.

For one, I had just experienced a moment where my daughter’s struggles — and my insatiable quest to support and improve them — weren’t the sole focus of my thoughts. And it hadn’t been the first time.

These five years had given me the chance to watch my daughter progress in ways I never imagined. They helped me realize that while life is not what I thought it’d be when I held her in my arms for the very first time, it’s also not what I thought it’d be the day I received her diagnosis either.

This time has brought new people and purpose into my view.

It’s imprinted five more years of my daughter’s ear-to-ear smile, unwavering persistence, and pure appreciation for the simplest of things, into my mind.

It’s allowed me to witness my two young sons adding extra room into their two young hearts for compassion.

It’s shown me the sheer humanity of so many around us — sometimes at the most surprising of times and places — and armed me with the strength to rid myself of anyone or anything unable to demonstrate it.

It’s provided me the freedom to not be confined to a traditional parenting path — and the forgiveness to occasionally feel resentful that I’m not.

It’s enabled me to help my daughter find her voice to communicate and to find my own to advocate.

It’s inspired me to connect with the rare disease community when I can — and the permission to detach and escape from it all when I can’t.

It’s granted me the grace to lose my patience and briefly show a side of myself that is unrecognizable, and the perspective to remember I’m only human.

It’s taught me that it isn’t all hard. But that it’s all right to say when it is, and to ask for help.

It’s reassured me that while most people may not ever fully understand what it’s like to have a child with a rare disease, the few that do will make up for it.

It’s freed me from a life-long pursuit of perfection and taught me that who we are, and what we have, is enough.

It’s reminded me that while I may feel like I’ve shed all versions of my previous self, my former, younger, and more carefree one is still very much a part of me — and one that I rely on, and unabashedly enjoy seeking moments for, to renew my spirit and soul.

It’s helped me laugh again.

It’s reinforced that the most joyful, devastating, and ordinary of moments can simultaneously exist and be woven together into an incredibly fulfilling life.

It’s shown me that it actually is OK.

Time has given me time. It’s given me space to grow. And it’s helped the rawness of our reality feel less raw, the sadness less sad, and the joy easier to see. I am no longer as afraid of the dark because the light constantly flickers — reminding me how bright it can get and helping to make sense of the shadows and push through the fog.

It’s difficult knowing that the gap between my daughter and her peers will only widen over time, and that for some of the things that may get better, others will get worse. But five years later, I am more comfortable with the uncomfortable, more expecting of the unexpected, and more centered on what is, rather than what is not. For what is, I have learned: is rich and beautiful and complicated. And most of all, it’s mine.

This journey has not been clear; I continue to stumble and falter as I go. But that shell of mine is starting to peel off, and my wings — and those of my daughter’s — are beginning to emerge. So, too, is the hope that was ripped out from underneath me that morning five years ago. Today, these wings are showing signs of vibrant colors and unique patterns. They are textured — but intact — and they continue to surprise and evolve every day. More than anything, they are helping my daughter and I find our own path to soar.

Maybe we’ll even stop for that Americano along our way.

To learn more about Julie’s daughter’s syndrome, please visit SATB2gene.org