‘We don’t know anything for sure, but…’ The doctor sat down with a grave expression.’: Mom gives birth to son with ultra-rare chondrodysplasia punctata

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“I used to feel utterly and completely alone. I knew there were others out there battling the same battles, but they seemed so far away and abstract, it did little to take the edge off my isolation. Does this sound familiar? Although the specifics of our journeys are unique, I’m convinced few humans on earth escape this painful reality. We’re thrown (sometimes abruptly) into a world entirely separate from our friends and family.

Maybe it’s premature widowhood. Perhaps it’s the yearning for children that never come. It could be a scary diagnosis of cancer. Or maybe even a mental illness you’ve lived with your whole life. It comes in packages and flavors as diverse as humankind. Chances are you have your own fill-in-the-blank tragedy or difficulty that at least initially alienated you from those you love most. If you have, you know the added pain it adds to an already painful situation. I’ve totally been there.

My personal flavor of no-one-understands-me sucktown occurred at the ripe ol’ age of 24. I was sitting in the fluorescent-lit doctor’s office after an unusually long anatomy scan at 20-weeks gestation. My then-2-year-old daughter was in tow and my husband at work. In the blissfully ignorant ‘before’ versions of ourselves, we assumed this appointment would be uneventful and even boring, as we already knew the sex of our sweet Kimball from a chance penis-spotting several weeks previous.

Courtesy of Madeline Cheney

This appointment turned out to be many things, but as you can probably guess, boring and uneventful it was not. Our kindly doctor sat me down with a grave expression that made my stomach do a backflip. Oh no, I thought. No, no, no, this cannot be good. And I was correct. He gently told me, ‘We don’t know anything for sure, but we think your son has Down syndrome.’ And with those words, I was swiftly and abruptly thrust into an entirely different world than any of my friends. All of my family members. Even most of my loose acquaintances. I had a deplorable lack of parents of disabled children in my life. And then just like that, I became one.

Not only was my heart breaking and my head spinning with the news, this meant I had no one to turn to for advice. No one to empathize from real experience. Suddenly my closest confidants seemed like foreigners whom I struggled to fully open up to, because how could they truly advise me? How could they wholly empathize with me? Could they witness my grief and despair without judging me for it, because they had never received news of a disabled child?

And the hard truth was, no. They couldn’t. My wise, seemingly all-knowing mother who had raised my seven siblings and me, was at a loss. I sat alone in the grief and stewed. I was grieving the life we thought we would have, the struggles and medical issues I knew faced us, the relationship I had envisioned with my son. And the grief was so much deeper and darker without others to look to for guidance and solidarity.

A couple of years before this life-changing incident, my dad had died from an aggressive brain tumor, leaving my mom to continue raising my two sisters and brother still at home. Although I didn’t have anyone in my circle of friends who understood that magnitude of loss, I had my siblings. I had my mom. We had each other. That comradery continues to see us through this heartache, and it brought so much comfort in feeling understood at that level of pain. But this time was different. The contrast was painful and stark; they didn’t know and they couldn’t know.

Courtesy of Madeline Cheney

As my mind searched for someone I could turn to for guidance, I remembered a woman who attended my church whose son with Down syndrome had passed away a few years earlier. I had only briefly met her, but she was literally the only parent I knew with disabled child. In my yearning for someone to talk to who not only got my pain and situation but had also walked this path for 18 years, I plucked up the courage to timidly ask her if we could talk. In response to her questioning eyes, I held my belly and quietly explained, ‘They think our son has Down syndrome.’ She nodded understandingly as her eyes welled up with tears and her face contorted with emotion.

We paced the church building as I asked and she talked. What an odd pair we were—essentially strangers playing hooky from Sunday school to speak of the deeply personal and painful. She told stories of her Andrew and the lives he changed. I watched as she gushed a love so fierce and so profound over a child who required nearly constant caregiving. My grief was mirrored in her pained face, and yet so polar. She ached to continue devoting her life to the intense care her son whom she outlived, while I ached for the healthy child I had envisioned within my belly. This conversation and connection will stay with me forever. It was truly eye-opening.

Courtesy of Madeline Cheney

To my disbelief, I left church that day with a glimmer of excitement. I had witnessed a perspective so different than my own, and a glimpse into the love and life my son would give the world and me the way Andrew had done for his mother. I reflected on the oddity of the situation and the newfound closeness I felt with a woman who had been a stranger hours earlier. In contrast, the void I felt between my family and me was as vast as ever. It was the beginning of a lifetime of instantaneous connection with other parents of disabled children in a way that is simply unachievable with those in a different world than ours.

Courtesy of Madeline Cheney

Soon after this heart-to-heart, our results for genetic testing came in negative for Down syndrome and a few dozen of the most common anomalies. My mind reeled at the news: whatever our son had, it must be very rare. And it was. We eventually learned his syndrome, chondrodysplasia punctata x-linked type 1, makes him one of 125 known cases worldwide. Our isolation immediately intensified. Not only was I the only one in my immediate world grappling with this, but no one had even heard of it. I was stripped of the basic understanding most strangers on the street had with the words ‘Down syndrome.’ We traded that neat little package in for a gibberish diagnosis which meant nothing to anyone.

Courtesy of Madeline Cheney

After a tumultuous pregnancy and NICU stay full of other surprising twists and turns in the form of unexpected birth defects, like deafness and blindness, we brought our 3-week-old infant home with life-sustaining medical equipment and about a dozen follow-up appointments with various specialists in tow. Our lives increasingly became more and more ‘other’ from those around us. While other new moms around me responded to their infant’s cry of hunger with an exposed breast, I responded to Kimball’s hunger cues with a feeding pump which fed Kimball my milk through a tube threaded in his mouth, down his throat, and into his stomach. While my friends spent their days sleep-training and grocery shopping, I did this and dragged infant and toddler to the hospital for routine appointments.

Courtesy of Madeline Cheney

While my neighbors lived a life of book-readings and song-singing, I numbly talked to in-home therapists about how to help our son eventually learn to sit up and walk and talk and see. The contrast was stark, and it was incredibly painful. The loneliness I had experienced during his pregnancy proved to be a foreshadowing of a much deeper and profound isolation, but of a similar kind. The pain and the heaviness of all the pressure I struggled to bear made all the more painful because felt totally and utterly alone. In the midst of this darkness and pain, I listened to a podcast about stillbirth and infant death. The mother being interviewed spoke of the fear and grief she had felt after learning of her unborn child’s lethal diagnosis.

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Of course, my situation didn’t match hers perfectly, but in her voice riddled with emotion, I heard myself. I heard a version of my story in hers. As she continued with her tragic story, I pondered on what had happened. The feeling of understanding was exhilarating but fleeting, and I was hungry for more. As we got ready for bed that night, I told my husband what had happened that day and said, ‘I wish there were a podcast all about what we’re going through.’ And then I took courage to voice a terrifying and utterly ridiculous thought that had taken up space in the corner of my heart: ‘What if I made one?’ We both laughed and went to bed. It was absurd and I knew it would never happen. Or a least, that’s what I believed.

Courtesy of Madeline Cheney

Fast forward a year of new trauma, continued isolation, a life-changing therapist (this time for me), and I had found my new normal and was finally feeling like myself again. Very long and bumpy story short, I launched the podcast I had dreamed of that day months before, The Rare Life, on Kimball’s second birthday. Inspired by the stillbirth and infant-loss podcast I had listened to that started it all, I talk with parents about the raw and the real, the ups and the downs. And the healing I’ve experienced personally, and witnessed occurring in both listeners and guests, is astounding. It’s absolutely breathtaking and more than I could have ever dreamed of.

Huey Ann Photo

My point: find your people. Create your own community and corner if you have to. It could be on a micro-scale of a one-on-one friendship with someone grappling the same things you are, it could be a social media version where you search hashtags relevant to your flavor of struggle and follow the accounts of people talking about it, or it could be finding and listening to a podcast brimming with jargon and references few others in your circle gets. Heck, it could even be something as dramatic as creating a podcast.

Huey Ann Photo

Regardless of your mode, find your people. Create the flavor of friendships you currently lack. And once you feel comfortable, dive into the raw. Share the deep, dark things you feel certain no one else could possibly be feeling. Chances are, when you do, you’ll achieve next-level healing and connection, and gift that to those within your reach. There’s nothing quite like hearing your story in the voice of another. It’s the solidarity we crave in otherwise isolating struggles. It’s the connection we need amidst tragedy. And it’s worth every effort to make it happen.”

Jamie Morse Photography

This story was submitted to Love What Matters by Madeline Cheney of Northern Utah. You can follow their journey on Instagram. Find their podcast here. Submit your own story here, and be sure to subscribe to our free email newsletter for our best stories, and YouTube for our best videos.

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