Theme: Receiving the Diagnosis

Parents Jordan and Julia describe how their baby daughter’s diagnosis of Infantile Epileptic Encephalopathy came with a “100% failure to thrive” prognosis and how they each internalized this in their own way and own time.

Theme: Receiving the Diagnosis

Parents Jordan and Julia describe their baby daughter’s early arrival, beginning in the NICU, and the slow trickle of bad news leading to a diagnosis of Infantile Epileptic Encephalopathy. “The screaming in my head was so loud.”

Theme: Receiving the Diagnosis

The morning light, soft and diffused, bathed the nursery walls in gentle hues. My daughter, a few months old, lay on her back, her eyes locked on the mobile spinning above. Her clumsy hands swiped at the air. Then, it struck. A subtle twitch. Her head jerked forward, a tiny nod, her limbs tensing. I dismissed it as a baby startle, a quirk of her growing body. But then, a quiver. A tightening. Another. And another. These were no flukes—a rapid, relentless clenching squeezed the breath from me. Her head dipped again; her small frame locked in a silent, terrifying dance.

In that ordinary instant, a ritual we’d repeated countless times, time split. The soft light hardened, the quiet room rang hollow, and dread coiled in my gut. What was this? What gripped my child? Could this be… more? Fears, shapeless yet piercing, stabbed at my fraying mind.

Life twists on such moments, doesn’t it? A single breath—a glance—upends everything. Time, once a steady stream, shatters into jagged pieces, each reflecting a fractured reality. How do we grasp this? How do we endure when an unremarkable second carves a new existence? I offer no answers, only questions, lingering in the space where certainty crumbles. Here, time splinters, grief hushes, and the caregiver’s burden dawns—a solitary watch over a world forever changed.

After that moment, time warped. Were they days? Weeks? For a place with so many clocks, time doesn’t seem to exist in hospitals and clinics. The waiting rooms reeked of sterile air, white coats drifting past. Each second crawled—a blood draw, a consultation, an EEG. My daughter’s spasms, those brief, eerie twitches, were trapped on video, replayed, picked apart. Doctors spoke in crisp bursts, their words sharp yet slippery, meaning evading me. Time stalled, a stagnant pool mirroring a warped present and an uncertain future.

Then, the years—or what felt like them—blurred. Therapies, medications, whispered hopes dashed against unyielding reality. Nights snapped apart with anxious wakings; days rolled into cycles of appointments, new drugs, fresh side effects—a tightrope walk between relief and ruin. Small wins faded under looming setbacks; milestones twisted into shadows of what might have been. Birthdays, seasons—slipping like water through a cracked cup, lost forever.

In crisis, time defies measure. A single twitch swells, flooding the mind with dread, while years shrink to a fleeting echo. For us, teetering on this edge, the ordinary haunts: feeding, bathing, holding—each a fragile stand against the unknown. Every laugh, every cry, stings with what was and what might be.

You see other parents—at the park, in the store. Their kids sprint, climb, chatter endlessly. They map out birthday parties, school plays, a future unfurling. You watch, and grief claws at you—not for what’s gone, but for what never will be. A simple life, snatched by fate’s twist.

This grief creeps in early, like a morning (mourning?) fog curling into your days. You study your daughter, tracing every fleeting smile, knowing some will never return—at least not as you dreamed. Guilt gnaws: if you grieve, are you ungrateful? If you mourn tomorrow, do you cheapen today? You love her fiercely and desperately, cherishing each touch. Yet the ache lingers, a quiet echo of what might have been.

This grief is a testament, not a betrayal. A testament to the depth of a love that stretches beyond the present, beyond the limitations of what is. It is a love that mourns the absence of a future that was, in its own way, already a part of you. You are, after all, made to care. And to care is to feel the sharp edge of loss, even before the final parting.

It’s not the hospital’s chaos that undoes you. It’s the quiet. Folding laundry, the soft fabric evoking tiny limbs. Stirring tea, the steam a fleeting balm. Sunlight spills through the kitchen window, warm and gold. A song hums on the radio—then stabs, too heavy to bear. And then, it hits you.

No crisis looms, no doctor drones on. You’re just living—or trying to. But grief ignores your rhythm, striking like an uninvited shadow. A tiny shirt whispers lost dreams. A spoon’s clink rings with unanswerable questions. Her shampoo’s scent clings. Her hand nestles in yours—all a fragile tether. A memory flashes from the beforetime, before fear, before doubt, when the ordinary wasn’t laden with dread. These moments are sacred. And unbearable. The mundane betrays you, hiding sorrow in its folds. The ordinary instant tests you—a monument to what was and won’t be.

You try to explain—to friends, family, coworkers. You weave words into sentences, stories. But they don’t grasp it. How could they? They see a child, a parent, a routine life. Beneath that, lurks a fear they can’t touch, a constant hum of dread thrumming through you. Every breath, every smile, weighs heavy with what they’ll never know.

The world spins on. Sun rises, seasons shift, plans bloom—vacations, promotions, tomorrows. Their lives surge forward while yours staggers, snagged between appointments, therapies, rare slivers of calm. You’re not alone in body, perhaps, but in spirit—an exile in a fractured realm. Your past’s upheavals bleed into today’s ordinary, a rift no story can span.

‘Why?’ gnaws at you, a relentless echo in quiet corners. Why her? Why this jagged path? You scour books, conversations, solitary nights for answers, craving a thread of order in the tangle of your days. But silence stares back, vast and unyielding, mocking your pleas. The sheer randomness—the cruel unfairness—threatens to swallow you whole.

So you forge meaning, stacking it brick by brittle brick. It glows in small triumphs—her fleeting grin, a steady day—moments of raw connection. You craft a tale of resilience, devotion, an anchor against the storm. Is it real? Or just a shield, a way to press on when despair tugs? Does meaning dwell in crisis, or do we wrest it from the void to survive? The questions hover, unanswered, a tightrope between surrender and fragile hope.

How Do We Know When Life Has Changed?

In one of those most ordinary instants, I was scrolling social media and came across a post by the Courageous Parents Network. It was a simple post with a splendid quote from Joan Didion, “Life changes in the instant. The ordinary instant,” followed by a caption prompting me to write about a time my life changed in an instant. And just like that, this blog post was born. But before I wrote it all out, my initial thoughts were as follows:

If life changes in the instant, and if ordinary instants are precisely those that don’t stand out, how do we know which moments will change our life? And how would we even know if our life has changed at all? Do we only see the shift later, tracing the crack it left? Or do we live as if every mundane second brims with potential to reshape us? We long for stability—routines, plans, a tomorrow like yesterday was. But perhaps the answer is not in chasing the moments that change us, in searching for the grand, dramatic shifts, or even in the comfort of predictability. Perhaps it lies in living fully within the moments that don’t seem to matter at all. In noticing the small, subtle details of our lives, always. To the way the light falls across your child’s face. The sound of their breath. The warmth of their hand in yours. This isn’t a call to compartmentalize through hypervigilance, it’s a call to integrate your ordinary instants and live.

Live, not only in the gasps of catastrophes, or in the pages of research articles, or on brightly colored awareness days, but in the ordinary. Because in a life where time is fractured and grief is a constant companion, the ordinary becomes extraordinary. Because one day, these moments, these seemingly insignificant instants, may be the ones that mattered most.

These ordinary instants are the ones that change your life.

Stephen Hager goes by his second middle name (he has three), Bud, because it’s easier to remember and baristas never misspell it. Along with his wife he is a caregiver for their 8-year-old daughter, Emma, who has pachygyria, a rare neurological disorder. He believes in taking an active approach to advocating for his child and others like her. To this end, he sits on various advisory councils at Children Hospital of Orange County (CHOC), volunteers on consulting and directing boards for various non-profit centers and lends his writing skills where he can. Experiencing a lack of support for parents of medically complex children, Bud founded a support group through CHOC focusing on parent-to-parent interaction. He is also a professor of psychology and has a small private psychotherapy practice.

Theme: Receiving the Diagnosis

El diagnóstico de una enfermedad grave obliga a los padres a aventurarse en un territorio desconocido y a menudo complicado, como navegar por el sistema de atención sanitaria o tomar decisiones médicas importantes. También se enfrentará a un nuevo desafío: comunicarse con su hijo sobre su enfermedad, tratamiento y pronóstico. De hecho, muchos padres consideran que este es uno de los aspectos más abrumadores de la tarea de cuidador. Sepa que no está solo en esta preocupación y que hay apoyo disponible para usted.

Theme: Receiving the Diagnosis

The diagnosis of a serious health condition requires parents to venture into unfamiliar and often challenging territory, such as navigating the healthcare system or making important medical decisions. You will also face a new challenge: communicating with your child about their condition, treatment and prognosis. Indeed, many parents find that this is one of the most daunting aspects of the caregiver journey. Know that you are not alone in this concern and that there is support available to you.

Theme: Receiving the Diagnosis

I like questions. 

I like asking questions.

I like answering questions. 

I’ve been known to ask many questions, some not always necessary but I like the affirmation of knowing I knew the answer. Or the gift of learning something new.

Seven years ago, just 7 months before Quinlan died, I started a list of questions that previously I never would have imagined I would need to ask or have answered (some that still remain answer-less 10 years later). Questions that include words I didn’t even know existed. And many are questions that no parent should ever have to ask.

Recently, I reread the list of questions and found myself comforted in a way as they transported me back to a time when Quinlan was alive – when we had naive hope. As scary as this time was, it was the only life we knew. It was the only life we knew with Quinlan.

The list continues but now since Quinlan’s death includes questions like:

“How do I make sure my younger son who never met his older brother feels connected to him?”

“How can I help other parents as a bereaved parent myself?”

“How do I make sure Quinlan’s legacy continues through us?”

I thought that by sharing, others may read these questions and feel connected or even safe knowing that they have asked these same types of questions. 

Living a life with a medically complex child or child with a rare disease often comes with more questions than answers. Sometimes writing them down and being able to see for yourself just how much you’re learning, how much you’re growing, and how much you’re advocating for the ones you love is a remarkable thing, even when it’s not something you ever wanted to do or expected to do in your life.

Post script: These are the questions I generated over the two and a half years of my son’s life.

1. What is tense muscle tone?
2. Why is my 24 hour old son getting an MRI?
3. What do these machines do?
4. What are all these beeping sounds?
5. What did the MRI show?
6. When can my son leave the NICU?
7. Why is his body temperature so cold?
8. Why is his mouth blue?
9. Why is he having seizures?
10. Will the spinal tap hurt him?
11. Will the EEG hurt him?
12. Will these medications have any side effects?
13. Will he ever walk?
14. Will he ever talk?
15. How many more EEG’s will he need to have?
16. How do we use this feeding pump?
17. Will the breathing tube hurt him?
18. Why is he on a paralytic?
19. How many seizures did he have today?
20. How many more days will he need to be on this antibiotic?
21. When can we hold him again?
22. Will the trach be beneficial in the long run?
23. How often do I change his trach?
24. Why can’t he sit up?
25. Who’s the nurse working with him tonight?
26. Was he awake enough for therapy today?
27. How do his lungs sound today?
28. When can he come home?
29. How many hours of nursing will we get a week?
30. How do you suction?
31. Why is his heart rate so high?
32. Why is he only SATing at 80%?
33. Why is Quinlan on precautions?
34. How many liters of oxygen is he on?
35. What is Brat1?
36. What are the chances another child of ours will have the same genetic mutation?
37. Are we emotionally ready to have more children?
38. When will the ambulance be here to bring him home?
39. How do I set up all these machines in the house?
40. Who is the nurse (aka stranger) coming to stay at our house tonight so we can attempt to sleep?
41. Why did the nurse call out tonight?
42. How am I supposed to stay awake all night after working all day to make sure he doesn’t have a seizure or miss any of his medications?
43. Did he have to go on any oxygen today?
44. What is his PEEP set to now?
45. How are the granulomas around his stoma looking?
46. Do I trust this person to change his trach in the case of an emergency?
47. How many ketones showed up on his test?
48. Will the keppra cause any issues with the trileptal which will cause issues with the topamax which could cause issues with the onfi which could cause issues with the Dilantin and could cause issues with the phenobarbital?
49. Who is the doctor on call when we bring him into the ER again?
50. Should I pack another overnight bag?
51. Can I take more time off of work while Quinlan is still in the hospital?
52. How do I say goodbye to him?
53. How do we go about donating his brain to research so this won’t happen to any other family?

Theme: Receiving the Diagnosis

Cuando su hijo/a está gravemente enfermo, debe navegar por muchos sistemas complicados. Estos pueden incluir el hospital o el centro o centros sanitarios donde su hijo/a reciba cuidados; los sistemas de seguros médicos y de suministros médicos; su sistema educativo local; y otras redes de ayuda pública, como Medicaid o los programas de exención por discapacidad.

Theme: Receiving the Diagnosis

When your child is seriously ill, you must navigate many complicated systems. This can include the hospital or healthcare setting(s) where your child receives care; health insurance and medical supply systems; your local education system; and other networks of public support, like Medicaid or disability waiver programs.

The purpose of this guide is to help you get started as you learn how to navigate these systems. While there is no direct or easy way through the maze of complex caregiving, there are some common practices that can ease your path.

Theme: Receiving the Diagnosis

It may not be your fault, but it is your responsibility. These words resonate with me as a parent whose fourth child was diagnosed with a complicated genetic disorder shortly after birth. A year later, I could have never imagined the challenges we have faced or the amount of fear, faith, and love that we have experienced since his birth. The journey to a diagnosis and the decisions and changes that followed has demanded radical acceptance from us as a family and as parents. Our reality is scary and our worry about the future is endless.

As a parent, watching our son struggle and not being able to do anything, having to accept that some questions cannot be answered, and some medical conditions cannot be cured, has made me appreciate the simplest things. Having a healthy child is so often taken for granted. And this week, a specific thought on that topic has really been on my mind.

It’s very common to hear parents complain or vent about their children and various milestone challenges that parents naturally cope with. For example, having to chase them around when they learn to walk/run; or having to clean up their messes when they’ve gotten into their toys or after they’re done eating; or potty-training troubles; or maybe the toddler screams, makes a lot of noise, or protests at parents instructions. Really, the list of such scenarios is endless, and often these situations are painted through the lens of a parent “having” to deal with those things in response to their children.

But when your child cannot do any of the “typical” things, the lens changes.  It could be interpreted as though those other parents “get” to do those things with/for their kids. At those times, you want to ask  – if your child could not walk, would you still wish they’d slow down? If your child could not communicate with their voice, would you still complain of the noise? If your child could not learn to feed themselves with utensils or eat solid foods, would you still complain of the messes they made learning to eat? The things that exhaust most parents are sometimes the same things that parents of a child who has a medical condition that limits/prevents them from those experiences, dream of.

I would never wish another parent to have to experience the grief or feelings that I do because of my son’s limitations. And that’s where it’s hard. The disability, diagnosis, disorder, condition, whatever you want to call it, is not ours. It is our child’s. And though it is not our fault that they have that experience, it is our responsibility to hold them through it. I always looked up to the parents of children who have medical complications. They are true heroes. They fight battles daily that many will never have to worry about. They sacrifice more than many parents will ever have to. And they love more deeply than many will get to love in their lifetime.  I am so humbled to be on this journey.

My husband and I both work full time. Our lives have been changed beyond anything we could have imagined in the time since having Yojiro. My wish in sharing any part of our story and experiences, is to connect with other families who are going through anything similar. I know that for myself, it can be very isolating to face such unique challenges that we have found ourselves working through since having Yojiro.

About Jericho

My husband and I have four children and live in Kaua’i, Hi. Our youngest son, Yojiro, was diagnosed with a rare genetic disorder called “KCNQ2” when he was 8 months old. The road to diagnosis was long. When he was born, we knew that something didn’t seem “normal”. Although his official diagnosis did not come along for about 8 months, he was having seizures shortly after birth, and he showed early signs of developmental delays and other complications. The disorder he has is a developmental and epileptic encephalopathy. We’ve come to learn that “milestones” look more like “inchstones”, and everyone is greatly celebrated in our home. I never thought that Yojiro would smile at us or be able to recognize me. He is now a little over one and he smiles all the time. His older brother and sisters love him so much and he gets excited by their presence and voices. He loves the sound of the ocean and being in the water.

Theme: Receiving the Diagnosis

I’ve always believed in the power of words. It’s amazing to think that a series of symbols can inspire, educate, entertain, convince, unite, divide, and heal us. They can make us fall in love – and out of love, too. The right words make us believe in a vision or an idea or a politician. The wrong ones make us turn away. 

I spend a lot of time engaged with words, whether reading, writing, or even playing three word-games every morning before I get out of bed. 

One of my closest work friends  has never let me live down the time I held up a three-day meeting that everyone else was ready to end because I wasn’t convinced we had the brand statement we were working on exactly right. “Words matter,” I declared. There were more than a couple of eye rolls in the room, but you can bet when we emerged 90 minutes later we’d crafted a perfect document. 

So when my daughter, Dalia, was diagnosed with MERRF Syndrome, I parsed through every word the doctors said. I pored over every entry I could find on Google and compared notes with my husband and father, who were doing the same thing.

But for the first time in my life, the words made everything feel blurrier. They rendered me more confused, not less. 

The doctor said Dalia had a mitochondrial disease. I didn’t know what mitochondria were. He said the disease was degenerative. I could guess what that meant, but I had no understanding of the likely speed or degree of the degeneration. The more he said, the less I heard. “Every organ relies on mitochondria to function properly,” he explained. “If your mitochondria aren’t working like they’re supposed to, neither can your body.” 

What in the world was he talking about? It was simply too much to take in, so I tuned him out, focusing instead on the mental images of Dalia playing with her brothers, snuggling in bed while I read to her, and dancing to Katy Perry. The images diffused the harshness of his decree. 

When it came time to share the diagnosis with family and friends, I couldn’t come up with the words. Instead, I shared a definition of MERRF from the National Institutes of Health. Let somebody else’s words do the heavy lifting, I figured.

But I chose to ignore the very definition I shared with my inner circle. I viewed the list of symptoms as a menu, rather than a prescription. I chose to believe that while she had muscle twitching, hearing loss, and short stature, she’d be spared the blindness and dementia. Those words made the blood in my arms burn and my fingers tingle. They made me sweat and feel queasy. I picked the words I could stomach, as it were. 

Once my people knew about the diagnosis, the burden of finding the right words shifted to them.  The problem was that nobody knew what to say.

And who could blame them? I didn’t know what I wanted to hear.

I didn’t like it when they told me about their daughter’s sprained wrist or the stress they were feeling getting ready for a vacation or the birthday party they were planning for their son. Those things suddenly felt foreign, like fading memories of an old movie I used to love. But I didn’t like it when they censored what they told me either. If my friends couldn’t share authentically with me, how would the friendships survive?

There was also a whole new category of words that made me cringe inside. 

“I can’t imagine.” 

“You’re a superwoman.”

“God only gives us what we can handle.”

Of course I knew that people were trying their best, acknowledging that what we were dealing with was really, really hard, beyond words even. But the words they chose stung nonetheless.

I’m sure I’ve been the one saying the cringey things more times than I can count. I’ve never been particularly comfortable sitting in silence and have used words to try to fix things for others, even when those things were beyond fixing. 

I’ve learned though, that sometimes words don’t really matter. What matters more is simply showing up. When we’re grieving or suffering or going through hardship we just need to know we’re not alone. Maybe that does look like sitting in silence. Maybe it looks like sharing a meal or taking a walk or just listening to what our friend who’s in pain wants to share.

And sometimes, it can even look like just acknowledging somebody. Recently I was in line at the grocery store when a teenager in the aisle next to me began to shout, “Hello! Hello! Hello!” Shoppers and checkout clerks and baggers all turned to see where the noise was coming from and quickly averted their eyes once they figured it out. 

I looked at the girl and said, “Hello.” 

The girl’s mother turned to me with tears in her eyes and said, “Thank you.” 

I looked right back at her, my own eyes tearing up, and smiled. A simple “hello” meant so much more. “I see you. I see your daughter. I honor you both.” I knew that’s what she heard because I’d been that mother more times than I can count. 

The words don’t have to be perfect. They just need to come from the heart.

________________________________________________________________________________________________________________

Jessica Fein writes about the mingling of joy and sorrow, mothering a child with a rare disease, and staying rooted when life tries to blow you down.  Listen to her podcast, “I Don’t Know How You Do It,”  .

Her memoir, Breath Taking: Rare Girl in a World of Love and Loss, is coming in May, and is available for preorder now at Amazon.com and Bookshop.org.  Visit her website or connect with her on IG for real talk about love and loss @feinjessica

Theme: Receiving the Diagnosis

We never know how we are impacting the people we meet. We hear this a lot; and yet it’s rare that we get real confirmation of it. But sometimes we do. It’s been more than six years now since that Sunday morning when I called the On-Call pediatrician at the Pediatrics practice that was partnering with ours for off hours, and asked her to see Miriam, my 3-week old girl. I’d had problems feeding her since birth, she’d gone from crying around the clock to being lethargic and never crying, and then finally I found her body cold to the touch and her tiny hand looking puffy as if there was fluid inside it. And even though I had no idea that anything was wrong, my intuition told me to call the doctor in panic. The doctor  told me to come in right away. I hurriedly dressed Miriam and nearly ran out of the house, asking my husband to come with me and calling my in-laws to come over to watch our other three children. 

As the doctor began examining Miriam, she stopped immediately and said she needed to call 911. I remember starting to cry right then, and crying all the way in the ambulance and in the emergency room. I cried – not because I knew that my beautiful baby, my only little girl, would be diagnosed with a horrible fatal mitochondrial disease and die a few weeks later. And not because I knew that it was my last time ever seeing my baby in her pretty clothes, that I put on at home, in her car seat. And not because I knew that a few weeks later I’d push the car seat and her clothes as far as I could into the shelf in her NICU room, and tell the nurses that I wouldn’t be strong enough to deal with it, and if they could please donate it or take care of it as they wish. And also not because I knew that this was our last car ride with her, and that the future that had just started for our family would never ever be. I didn’t know or imagine any of this at that time. I think I cried from shock. I believed things would be just fine, that doctors would help Miriam and that we’d  be back home within a few hours.

This doctor who sent us to the hospital later called my cell phone but things became very serious very quickly and I was unable to pick up. Nurses at the hospital told me that she called to check in, and how shaken up she was, and that she’d told them that this was one of the most frightening moments in her career as a doctor. We found out that she had called 911 because Miriam’s breathing was irregular and her temperature was dangerously low. We found out that had we not been seen when we were, Miriam would likely have died that same day at home. We would likely never have found out why, as she would not have been tested for a rare disease,. Things worked out in a tragic yet also tragically miraculous way.

Miriam was put on life support right away at the emergency room following a brief explanation from a doctor, “We just need to give her something to help her breathe”  and admitted to the NICU. She lived for four more weeks.

When we are in the middle of a tragedy, when we are touching death, every encounter we have feels very significant, deep, intimate; every word is significant and stays with us forever. After Miriam was gone it seemed like something else needed to be said or done, otherwise it felt unfinished. So in the weeks following Miriam’s death, I tried to get back to the kind people who had crossed our path during her brief life, including those we encountered medically. 

My husband and I ordered a beautiful art piece for the nurses break room at the hospital where Miriam stayed for them to enjoy and to remember her. I also visited the pediatrician’s office and brought her a butterfly mug that reminded me of Miriam and flowers. The doctor told me that Miriam was a beautiful baby. I remember thinking that she was the last one to see Miriam as a real baby, before she had a breathing tube and tons of devices attached to her tiny body. 

Fast forward to last month, six years later: I received an email with the subject “Thinking of you” and found a message from this pediatrician. With her permission, I share it here: 

Dear Sophia,

I’m just writing to let you know the impact that your beautiful baby Miriam has had on me as a person and a pediatrician.  I keep the butterfly mug that you gave me in a prominent place in one of my kitchen cabinets, so I think of Miriam every single morning as I reach for my coffee mug.  She reminds me to be humble as a pediatrician and a parent.  She reminds me of the fragility of life.  She reminds me that sometimes bad things happen, even if we try our hardest to prevent them.  And sometimes I just get an aching pit in my stomach when I think about you and your family, and how hard this has been for all of you.

I’m sorry I didn’t write sooner–I’ve written this note to you in my head so many times, but didn’t send it–it’s been hard to find the right words to stay.  But I want you to know that I carry the lessons taught to me by Miriam every single day.”

I read the email over and over. I had not expected to receive any message from her. Even more than that, although I always remember this doctor being very affected by our story, I did not know that she still had the mug, and did not imagine that she was looking at it and thinking of us daily, or that she wanted to write for so long but was afraid to do so. In receiving this message, I experienced how important it was and how good it felt to now know these things. I was so grateful that she had sent the email six years later. 

Yet, just as when asked “How are you doing? ” I didn’t know exactly how to respond.  Should I share that I forever have a part of me missing and my husband feels the same? Or should I say that we’re doing really well? Should I share that in the last 6 years I have emerged into a new brave and resilient version of myself, that my marriage has evolved to a new much higher level, and that I’ve been blessed to see my boys grow and see over and over how kind, smart, and compassionate they are; that I’ve found myself asking them for advice rather than the other way around and that I’m constantly amazed at their wisdom, maturity, and sense of humor? Should I share that I’ve been able to leverage my data expertise to help the rare disease community, to build a worldwide patient registry for Leigh syndrome, and that this work in Rare brought some of the most rewarding experiences, as well as some of the most difficult and demoralizing; and that the hard ones have helped me find my voice and use it? And should I mention that no matter how well things are now, I deeply miss, want, and feel what could and “should” have been? All of these things are true. But it feels too much and too hard to gather into an email response or one conversation. I did respond that I was so  glad to receive this email, which is very true. In a world that is so often painful and hard, it’s so good to get a reminder that kindness matters, that we never know who we are impacting, that sometimes saying the things we want to say is important and meaningful and that for doctors or patients, it is wonderful when we can just see and understand each other as humans.

Sophia lives in Newton, MA with her family. She bridges her personal and professional experiences and is the Leigh syndrome patient registry director and a board member with the Cure Mito Foundation (curemito.org).

Theme: Receiving the Diagnosis

I used to wish I had a crystal ball. Every time I was at a crossroads, I longed for a glowing orb that would tell me how things were going to turn out. 

During five years of fertility treatments, all I wanted to know was when I’d become a mother. I felt like if I just knew that by age 32, or 34, or whenever it was, I would have a baby or two, I’d be fine. It was the not knowing that pained me.

When I was deciding between the job that came with a regular paycheck or the creative path that whispered to me, I wanted a sneak peek of how each choice would unfold – which would be more lucrative, more impactful, more fulfilling. Trusting my intuition felt like too big a gamble.

When my husband and I ultimately made the choice to adopt our babies from Guatemala we gave up any notion that we could predict or envision our future. We couldn’t look at our own talents or smarts and imagine what our children might inherit from each of us. There was no late-night musing about which one of our coloring they’d have, whether they’d get my green eyes or my husband’s blue ones.

And there was no way at all to know that our daughter Dalia would be born with a rare degenerative disease, MERRF Syndrome, that would show itself when she was just 5 years old and take her life at 17.  

The very day of Dalia’s diagnosis, after the confusion landed but before the fear set in, I told my father I was glad we hadn’t known about the disease earlier. Had we known, had we found out about a little girl available for adoption with an insidious illness, I would have passed. I’d have asked to wait for the next child who became available. I wouldn’t have been interested or prepared for the challenges in front of me. 

And I never would have met the child who was meant to be mine.

The crystal ball would have shown me a little girl with leg braces and a walker, a teenager in a wheelchair. I’d have seen the trach tube and the hearing aids, the chest brace and the goggles. I’d have noticed her beauty, too, but I’d have been distracted by everything else.

And there’s so much more I wouldn’t have seen.

I wouldn’t have seen this child’s bravery, how she was more worried about her dad’s poison ivy than her own weakening muscles. How she’d beg to go on the roller coaster “one more time” so she could feel the freedom of sailing through the sky, unencumbered by legs that didn’t cooperate. I couldn’t have known how sweetly she’d rub my back when I came home from work even though her day had undoubtedly been more trying than mine.

I wouldn’t have seen her strength of spirit, how her little body couldn’t hold it all and so it spilled over to everybody she met. 

I might have seen her smile, but I wouldn’t have known it was contagious.

A crystal ball wouldn’t show me that because of Dalia I’d learn that joy and sorrow can coexist. It would take me a while, but I’d follow Dalia’s example of creating fun and wanting to play even when everything felt scary. I’d learn that when there’s no light at the end of the tunnel, it’s possible to make the tunnel itself beautiful. 

In the crystal ball I’d have seen two siblings and I’d have worried that they weren’t getting enough attention with their sister’s needs demanding so much time and energy, and that may well have turned out to be true. But it wouldn’t have been clear that  Dalia’s siblings would become heroes because of her, that they’d learn to celebrate differences rather than fear them, and that they’d have a degree of empathy I can only aspire to. 

I wouldn’t have seen that my heart would be broken and overflowing at the same time, and I wouldn’t have known that was possible.

I’m glad I didn’t have a crystal ball, and I don’t long for one anymore.

When we see something from afar, we get a limited view. It’s impossible to understand the nuances, the textures, and the pixels that make up the full picture. How our life with Dalia looked from the outside was so different from what it was really like.

Yes, it was scary and hard and devastating. It was also gorgeous and transformative. 

I wouldn’t have asked to parent a child with a terminal disease; but had I known what I was in for, I would have begged to parent Dalia. 

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Jessica Fein writes about the mingling of joy and sorrow, mothering a child with a rare disease, and staying rooted when life tries to blow you down.  Listen to her podcast, “I Don’t Know How You Do It,” wherever you get your podcasts. Her memoir, Breath Taking: Rare Girl in a World of Love and Loss, is coming in 2024 from Behrman House Press. Visit her website or connect with her on IG for real talk about love and loss @feinjessica