Returning to Parent

First published on Patient Worthy.

In medicine, baseline is a simple word. It’s a starting point; a reference used for comparison over time. Physicians document it carefully. Researchers rely on it. Clinical trials require it. But when your child is diagnosed with a terminal illness, baseline becomes something far more personal.

When my daughter Éabha was diagnosed with an aggressive brain tumor at age 10, I entered the world of pediatric oncology with a dual lens: I was both a registered nurse and her mother. I understood immediately why clinicians asked about baseline. Establishing a child’s baseline helps guide treatment decisions, detect complications, and evaluate disease progression. It is essential to good medicine. But living it is something entirely different.

One day she was an energetic, creative, endlessly curious child. The next, we were standing in an intensive care unit being told to prepare for the worst. That day marked the end of the “baseline” we had always known. Before cancer, Éabha was vibrant in a way that filled every room. She was thoughtful beyond her years, fiercely loving, and completely devoted to her younger brother. Her laughter came easily. Her wit came quickly. Her energy felt limitless.

Then hydrocephalus, neurosurgery, biopsies, radiation, steroids, chemotherapy, complications, vision loss, weakness, and with each medical intervention came a subtle recalibration. A new version of our daughter emerged.

In pediatrics, baseline matters because children are still developing. Clinicians rely on parents to help distinguish what is normal growth from what signals concern. In pediatric cancer, especially brain tumors, that distinction can become lifesaving. A subtle change in coordination, increased fatigue, a shift in speech pattern, sleeping longer than usual, laughing a little less. These may be whispers of disease progression or treatment complications. But those whispers are rarely obvious. They live in nuance, and parents become fluent in that language.

Baseline isn’t static it is ever evolving. There was a baseline after surgery. A baseline after radiation. A baseline on high-dose steroids. A baseline during tapers. A baseline after shunt revisions. A baseline during stable scans. And every time we thought we understood it, it would shift again.

Monitoring her baseline became a constant, quiet vigilance. As a nurse, I had the clinical knowledge to recognize patterns. As her mother, I knew the cadence of her voice, the spark in her eyes, the rhythm of her walk, the subtle expressions that signaled something wasn’t right. Sometimes it was nothing, sometimes it was everything.

And yet, what makes baseline so difficult in pediatric cancer is not just the vigilance, it is the grief. When decline happens in children, what is often slipping away are pieces of identity. Children with neurologic cancers rarely decline dramatically overnight. The changes come gradually over time and to the outside world, these might appear insignificant. To us, they carried enormous weight. Because baseline is not only about physical ability, but it also encompasses personality, independence, humor, endurance, spirit. Each time Éabha’s baseline shifted, it was an acknowledgment that something had changed, perhaps permanently.

There is a particular exhaustion that comes from loving your child wholeheartedly while simultaneously assessing them clinically. I could understand the pathophysiology of increased intracranial pressure. I could interpret MRI reports. But nothing prepares you for realizing that the baseline you are now protecting would once have felt unimaginable.

Still, baseline was also how we held onto her. It was our early warning system. But it was also our sacred measure of who she was that day. It helped us know what kind of day it could be. Whether she had the strength for visitors. Whether she could sit outside and feel the sun. Whether we needed to advocate for medication adjustments or imaging sooner rather than later.

As her illness progressed, I came to understand that honoring a child’s baseline is honoring their dignity. When asked, “What is her baseline?” they were not simply collecting data. They were acknowledging her as a whole person, not just a diagnosis.

Éabha died at twelve years old.

And when I reflect on her life, I don’t think first about tumor markers or survival curves. I think about the steady courage she showed in a body that betrayed her. I think about the tenderness she extended to others even while suffering. I think about the quiet strength that carried her through days that would have broken most adults.

In the end, baseline was not just a clinical reference point. It was the story of who she was becoming, even as disease tried to define her.

For families navigating pediatric cancer, baseline is more than a word in a chart. It is the lens through which we recognize change. It is the language we use to communicate concern. It is often the first signal that something needs attention. When healthcare teams truly respect a parent’s understanding of baseline, they are doing more than practicing good medicine. They are entering into partnership with the people who know that child best. They are being invited into the most intimate understanding of that child’s life. That partnership can change everything.

As I write this, Sasha is screaming. Not the kind of vocalizations you might hear at a restaurant or department store and realize someone with a complex disability is in the vicinity. This screaming is a pupils-dilated, faced-flushed, blood-curdling kind of shriek. If you were to zoom in further, you’d see her uvula swinging violently in the back of her throat – something right out of a horror movie. My husband employs noise cancelling headphones during these episodes, while Sasha’s four-year-old sister calmly states, “Sasha, it’s too much.”

These episodes have long been a part of parenting Sasha and living alongside her. In her early years, they tended to be nocturnal. As the sun set, an internal switch would flip on and Sasha would start pacing and screaming. We would hear yells anytime she got cold, whether from a window being down while driving along a highway or from missing a blanket when watching television. Nowadays, a screech may occur when she wakes from a brief catnap and feels disoriented. We always hear one when she is uncomfortable from wetness in her incontinence brief. But mostly – and like clockwork – this behavior occurs during menses. Period Power is the term my husband has dubbed it, referencing the surge of energy, mania, appetite and sleepless nights we often see during “that time of the month”. Each cycle has brought challenges for us as caregivers, and also unexpected, miraculous strength to Sasha’s body.

Sanfilippo Syndrome carries with it a myriad of complexities. Sasha was six when her seizures began. With them came a loss of skills, which was shocking and particularly devastating because we did not yet know her diagnosis. Witnessing such a small, young individual go into convulsions brought a helplessness no parent should ever know. As time moved on, the seizures worsened, and our pediatric neurologist shared that seizures beget more seizures. Eventually, Lennox-Gestaut, a typically intractable seizure disorder, was diagnosed. Ativan was prescribed to halt the cluster events; and a new protocol was in place as we cautiously moved forward.

This intervention mostly worked for a few years to come. Every six weeks, Sasha would have a grand mal seizure for about thirty seconds; we’d administer a tiny tablet of Ativan between her back teeth and cheek, and she would fall into a deep sleep for about sixteen hours. A worrisome occurrence to witness, such deep sleep without stirring, but the potential for a seizure wave and crest was mitigated. Sasha would gradually resume her baseline state of awareness and functioning and life went on. That is, until adolescence.

The teenage years arrived, and with them, hormones. Hormones meant more seizures. Six weeks apart became four, then four weeks apart became two, until they eventually hit a worrisome new frequency where Sasha was having seizures every five days. I’ll never forget the day I told her neurologist that I feared a seizure would be the medical event to take her life. If this shrinking timeline continued, the five day interval would become a two, and then every two days would eventually become one. The daily strain of seizures – those were such harrowing years.

In an urgent conversation, he finally mirrored my worries, and he started combining meds in an attempt to reset Sasha’s neurological hardwiring. We had amazing results with a two medication “cocktail” and suddenly watched our wall calendar transform. Once riddled with red circles marking epileptic events, the calendar began to reveal white spaces. The circles grew further apart. More and more white spaces appeared. Calendar pages turned as days turned into weeks and weeks became months. We had struck gold.

While her menses no longer triggers seizure events, it does still have its challenges. Sanitary care was initially quite difficult, as her fully able body was paired with the developmental understanding of a toddler. But as with any medical decision in this rare disease world, deciding whether or not to medically intervene with her hormone cycle was not simple. If I could count the number of times someone said to me, “Life will get so much easier when….,” I would be a very wealthy individual.

For the past fourteen post-puberty years, I have chosen to not (yet) intervene with Sasha’s menses. Behaviors of sleepless nights, screeching vocalizations, frantic pacing and voracious eating are par for the course each and every month. We opt not to travel via airplane, or stay in hotels or rentals with shared walls due to the potential for unexpected screeching episodes. They are incredibly alarming to hear, and I often find myself waiting for police to be called by well intended strangers. While Sasha’s monthly cycles are fairly predictable, they do have a tendency to slightly shift, making travel planning challenging. Sasha experiences urinary retention every month as her cycle approaches, as well withholding the ability to void for upwards 16 hours. Are there medications that can address all of this? Absolutely. Injectable, oral, non surgical and minimally surgical offerings are all at the ready should we wish to pursue them. How effective they will be for a rare disease individual can vary greatly. If they will be a game changer for the better, or conversely, the card that makes the house of cards tumble – we do not know. I live every day, Sasha lives every day, in a house of cards. Her foundation is not built on sand, but her roof can be made wide open to the elements ever so easily.

There’s a host of reasons why I wait – that for all of these years of screeching, I keep pausing. For one, Sasha cannot tell me if she is experiencing a side effect, and more importantly what that side effect is. Women typically follow their mother’s gynecological history; and for me, I had severe mood swings any time I took hormones, and as a monthly migraine sufferer myself, this would also be a concern for Sasha. Second, there is the chance for weight gain. With Sasha being nearly immobile now, it is important for her health (and for our backs!) that she remains at a relatively consistent weight. Neurologically speaking, estrogen tends to increase neuronal excitability, lowering Sasha’s seizure threshold. We are therefore limited in medication options and would need to use progesterone-only compounds so as not to risk the return of seizures. And there is one oddly unique reason holding me back: Sasha’s stamina.

Every month as Sasha’s period approaches, along with the negative behaviors come unexpected positives – increased strength and a return of mobility. During the week leading up to Sasha’s period, she stands on her own volition, with me only holding her hands for balance, and takes self-initiated steps. For one week, every month, I can get Sasha to walk through multiple rooms in our home. In warmer months, my husband follows behind us with her wheelchair as we walk portions of our neighborhood. It is fleeting but amazing. As the period comes, stamina wanes, energy levels dip, and we are back to a two-person assist at her best, and the hoyer lift at her worst. I am so fearful to risk the loss of this sacred week of strength should we alter her hormone cycle. I simply cannot consider it.

I relay my reasoning to Sasha’s providers every six months. I do not disavow the negatives. I treat Sasha with over-the-counter medications for suspected cramping and headaches, monitor her hydration closely and gently apply warm compresses to her abdomen. And in our cupboard sits a month-long prescription of norethindrone, waiting for me to give it a try. But nothing is simple in this rare disease world. What might look like an obvious medical solution from the outside is, for us, a calculation of risk, memory, and hope — and for now, I choose to wait. Some decisions are not about making life easier; they are about preserving what is miraculous.

Joanne Huff comes to Courageous Parents Network as a long time follower and parent enthusiast of the organization. As the Mother of two girls, the oldest of whom has the rare disease MPS IIIA/Sanfilippo Syndrome, Joanne has benefited tremendously from the intimate parent interviews and candid, vulnerable story sharing throughout numerous thought provoking blog posts. As her daughter’s activities and lifestyle started to slow down with disease progression, CPN became a larger anchor in times of uncertainty and unrest. It is through this lens that Joanne hopes to share experiences and insights via the CPN blog.

Joanne completed nursing school after her daughter’s diagnosis, receiving her Bachelors of Science in Nursing from Plymouth State University, Plymouth NH. She enjoyed community liaison work with home care providers of adults with special needs up until her own daughter’s care became increasingly more involved. In addition to serving on the Boards of New England Regional Genetics Group (NERGG) and Adaptive Sports Partners through 2024, she has found great purpose in volunteer work advocating for policy improvements and change in Washington DC with the National MPS Society. In her free time, Joanne seeks balance and refuge with yoga, hiking and performing as an ensemble Soprano vocalist with the Pemigewasset Choral Society. When not blogging for CPN, Joanne enjoys sharing offerings on her personal Blog Folding Origami for God. She resides in Bow New Hampshire with her two daughters, Sasha and Nika, her husband Mike and her yellow lab Suki.

For the uninitiated, the last day of February is set aside to honor people living with and alongside rare diseases. There are hashtags, purple ribbons, awareness campaigns, carefully chosen stock photos of smiling children in wheelchairs, copy about resilience. The grammar of awareness is familiar by now. It asks us to notice, to learn, to care.

But as I sat down to write about just how rare she is, something else came to mind.

She isn’t rare at all; she is the opposite. She is ubiquitous. She is the single most present thing in my life. We are two folds in the same tablecloth at the banquet of life, tugging and smoothing the same fabric, spilling on the same places, living inside the same stains.

Rarity is a statistical category. It lives in spreadsheets, in prevalence rates, in the language of funding cycles and research pipelines. It belongs to the way medicine sorts and prioritizes bodies, the way institutions decide which lives get legible, which conditions get named, which suffering gets indexed. All of that matters. It shapes who gets help and when. It determines which clinics exist, which specialists you can see without driving three hours and taking a day off work, which questions can be asked because there’s a billing code to hold them.

But none of that is how she exists to me.

To me she is the sound of her breath at 2:13 a.m., the way the house goes still when a machine alarm cuts through a dream. She is the weight on my chest when her body is cold and needs to borrow my warmth for a while. She is the particular way her laugh breaks open a room that is otherwise heavy with unspoken fear. She is the choreography of tubes and medications and the small, fierce rituals of care that bracket our mornings and nights.

This isn’t to say there aren’t rare aspects of her. There are several: a certain genetic mutation; her wondrous talent for making conversation without making it entirely about her trauma; her penchant for bringing people together; her friends and family who have been willing to grow with us and learn how her life rigidly demands flexibility.

Her rarity shows up in exam rooms when clinicians lean in a little closer to the chart, when we become case studies by accident, when we are thanked for our “patience” because there is no protocol for this constellation of needs. It shows up in the way things like insurance systems, school districts, transportation requirements all assume a default body and then quietly fail anyone who doesn’t fit inside that template. Her rarity shows up in the assessment forms with boxes too small to hold the truth, in the phone trees that loop endlessly when you try to explain that your child’s needs don’t align with the options on offer.

It has been tempting these past six years to view her rare diagnosis as an obstacle. As an intrusive “something over there,” while who she really is lives “over here.” To tell ourselves that if we could just cure it, get around it, un-dam the damn thing, then maybe the rivers of our life would finally flow. As if there is a normal life stalled somewhere upstream, waiting for us to clear the blockage so it can arrive on time and according to plan.

Meanwhile many of the things we hoped for have not come to be, and many of the things we dread are now here.

This is the futility of a hope that is only oriented toward the life we were promised rather than the life we are living. This kind of hope can become a way of postponing presence. A way of loving some imagined future version of your child more than the child who is breathing in front of you right now. It can turn care into a holding pattern with mantras such as we’ll really begin once this diagnosis loosens its grip; we’ll really live once the system stops being so disorienting; we’ll really rest once the crisis phase is over.

But the crisis phase is no longer just a phase.

Her diagnosis isn’t something that happens to her. It’s just one way of trying to understand one facet of her existence. It is the language that medicine uses to speak about her body. It is not the language she uses to speak about herself. And when I confuse those two, I start relating to an abstraction instead of a person.

Parsing out her biological rarity, then, is a comparison game; and I have no great interest in doing that. Rare, compared to what? Compared to whose body, whose baseline, whose imagined normal? Comparison is the thief of connection. It tempts me to measure her life against a statistical average and call the difference a catastrophe, rather than to meet the singularity of her being and call it a relationship.

Letting her diagnosis be just one part of the entirety of who she is lets me experience the passing of holidays, milestones, and awareness days with less emotional ambivalence. It lets me hold gratitude and grief in the same hand without asking either of them to justify being here. It lets me show up to Rare Disease Day without needing to perform inspiration or despair, without seeking absolution for experiencing conflicting (or unpopular) thoughts and emotions.

There are days when awareness campaigns feel like a thin layer of paint over a cracked wall. On those days I want to ask what awareness does when it doesn’t come with structural change such as respite care, or accessible housing, or reliable home nursing, or schools that don’t require parents to become full-time case managers just to secure basic accommodations. There are days when “honoring” feels like a euphemism for noticing without altering the conditions that make life so hard.

And there are days when I’m grateful for the simple fact of being seen, however imperfectly. For the provider who says, “I don’t know, but I’m willing to learn.” For the stranger who doesn’t look away when my daughter’s body draws attention in public. For the small mercies of community that appear in waiting rooms and online forums, in late-night messages between parents who recognize each other’s exhaustion.

Her diagnosis is rare, and yet her personhood is the absolute foundation of my facticity. This is the ground of my life now. The systems I move through, the language I use, and the questions I ask – about what counts as care, about whose bodies are considered costly, about how grief and wonder can coexist in the same afternoon – have all been rewritten by the daily labor of loving her.

As we honor Rare Disease Day, I hope a growing community takes time to reflect on the ways our culture struggles to make room for bodies that don’t conform to its narrow expectations of productivity, independence, and ease. My deepest hope is that we change the way we treat care as a private burden rather than a shared practice; because the truth is, people living with medical complexity are not edge cases. Rare diseases exist amongst our neighbors, our classmates, our colleagues, our family, and our friends.

She is rare, and she isn’t.

She is everywhere in my life: in the way I think about time now as something elastic, punctuated by alarms and appointments and the long, slow work of waiting; in the way I understand dignity as something that has nothing to do with efficiency or self-sufficiency and everything to do with being met where you are; in the way I imagine a good society as one that is built for the most vulnerable first, becoming gentler for everyone else.

On Rare Disease Day, I can hold the colored ribbons and the spreadsheet in one hand, and her warm, inconvenient, luminous presence in the other. I can honor the language of rarity without mistaking it for the truth of who she is. And I can say, with as much steadiness as I can manage: she belongs without qualifiers. Rarity is a framework for medicine and advocacy, not a measure of worth. She is life, up close.

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.

On a Repurposed Life

I noticed the bottle one afternoon while cleaning out the refrigerator. Dark glass. A narrow neck. It must have been the kind of bottle you don’t throw away right away because it held something worth remembering. I turned it in my hand and read the label: 2014. That was, by all accounts, a very good year. I remember receiving it now, who we were with, and the unspoken assumption that there would be many more like it.

At the time, I would have told you this was how a life was supposed to work. You laid things down carefully; you let them age, and you trusted that, when the moment came, you would know how to pour. That bottle belonged to a different life, one designed for long evenings and unhurried company, for the clink of glasses meeting midair and the smell of woodsmoke threaded through conversations about the future. All my yesterdays were so full of tomorrows.

And as I stare at the bottle, an unfounded guilt starts to gather.

Not the guilt of having broken something, but of having misused it. As though a life without a medically complex child could be opened fully and savored without interruption. Not necessarily a life without hardship, but hardships born lightly and moved through expediently. Before, I thought that suffering must be done nobly, with a composed voice and steady hands. Could life be measured based on what it actually holds and not just what I wanted it to hold? The bottle was never ruined after all; it just isn’t holding what it once promised to hold. I set it on the counter and kept cleaning.

Standing in front of the open fridge now, the analogy continues to unfold. The bottle is still sound, the glass uncracked. The wine held fast by an undamaged cork. The label remains crisp and legible, displaying, in my mind, so much more than year and vineyard. It is announcing a whole life built of the expectations of that younger version of myself.

Like so many years ago, I again did not throw the bottle away. This time, instead of returning it to the fridge, I rinsed it out, letting the water run until the last traces of the old vintage were gone. I peeled back the label slowly, careful not to rip apart the memories it contained. What remained was simpler than what had been promised.

The bottle, and the life that it represents, is not a failure. It has been repurposed, it is a vase now.

The admission lands with less drama than I may have expected. A vase is a modest thing. It does not hold intoxicating promises. It is meant to stay put, to be stable, to hold without calling attention to its own design. Before, I imagined myself a full bottle, offering something rich and expansive. I have become more like the vase, holding something much simpler yet necessary to keep something precious alive.

The world still demands the mindset of that former self though. It shows up in many areas of my life. My career that rewards the privilege of consistent momentum. The friendships that aren’t as easy to maintain now that I’m always requesting accommodations. The invitations to travel, the asks to show up, to say yes, all while having to calculate what it will cost at home. Conversations still open with What’s next? as though the future were a neutral resource. Even praise for me as a caregiver is spoken in the old grammar, with phrases that call me impressive, productive, or busy.

I’ve come to realize that the ache of who I once imagined I would become doesn’t fade just because I’ve given my role a new name. The world is still calling, regardless of my positive reframing. The sense that a life once forecast with confidence has come in under expectation reverberates even in the smallest moments, like when a friend texts to ask if I can meet for coffee, as though they are reaching for the older version of me. I have spent so much time living as though the person I might have been is here now, waiting for me to explain myself.

It has been an ongoing challenge for me to shift my understanding of what I want my life to look like now that my days are dictated by the needs of a medically complex child. And though I am no longer full of the vivacious libations I once was, neither am I empty. I now hold what is necessary for those that cannot survive without me. I am a vessel for a life that no longer photographs well, but that quietly persists. I have found mercy in letting my life as a caregiver be what it is without demanding it justify the change.

To live as the vase is to stop apologizing for not becoming the person I might have been. It is to acknowledge the uncomfortable certainty that I am the parent I have needed to become, and to understand that this is not a moral failure. The bottle was altered by necessity, not neglect. Life was altered by love.

First published on Patient Worthy.

A parent’s perspective by Maria Hopfgarten, Courageous Parent Network Parent Champion

When you bring your typically developing child to the pediatrician, you quickly come to expect a certain rhythm to the visits. The doctor may mention upcoming developmental milestones, caution you about toddler tantrums, or suggest babyproofing before your little one starts crawling. These aren’t just casual tips—they’re examples of anticipatory guidance, a standard and essential part of pediatric care. It’s the way clinicians help families look ahead and prepare for what’s likely to come.

But when your child has complex medical needs, these conversations too often fall away. The focus shifts to the present—managing symptoms, coordinating care, reacting to what’s urgent. And in that shift, anticipatory guidance can be lost, leaving families without the roadmap they desperately need. The consequences can be painful and lasting.

My son Jacob lived with mitochondrial disease for ten beautiful years. Though he couldn’t speak or walk, his radiant smile spoke volumes. Like many medically complex children, his care involved routines that became second nature to us. One afternoon, after a routine appointment, I lifted a 6-year-old Jacob into his car seat just like I had hundreds of times before. Nothing seemed unusual. Later that evening, while preparing him for his bath, I noticed his arm was swollen and discolored. He didn’t express pain—something not uncommon for him—but I knew something was wrong.

At the ER, we were given devastating news: Jacob’s arm was broken. Worse still, because the injury happened at home with no clear cause, child protective services were required to get involved. I was consumed by guilt. How had I failed to protect my son?

When the ER doctor returned after speaking with Jacob’s primary physician, he told us Jacob had osteoporosis, a known complication of mitochondrial disease. This was the first time anyone had mentioned this risk to us. That one missing piece of anticipatory guidance could have changed everything.

If we had known Jacob’s bones were fragile, we could have discussed bone health strategies and screening with his team, modified our transfer methods and adjusted our daily care routines to reduce risk. Most importantly, I would have known that his fracture wasn’t the result of negligence. It was a known possibility—one we just weren’t informed about.

Anticipatory guidance is not about predicting every outcome or preventing every complication. It’s about preparing families—medically, practically, and emotionally—for the road ahead. When clinicians share not only what is happening now, but also what may come, families are empowered to make thoughtful, proactive choices. And when challenges do arise, that preparation helps us meet them with clarity.

At Courageous Parents Network, we believe every family—regardless of diagnosis—deserves this level of care. Anticipatory guidance should not stop at milestones or medications. It must extend to the real-life experiences of caregiving: the physical lifts, the emotional weight, the decisions that shape each day. These conversations can be hard. They require time, empathy, and trust. But when we talk openly about what may lie ahead, knowledge can replace anxiety, and preparation can ease the burden of the unknown.

I consider myself an advocate through and through; not only for my daughter, who struggles with a rare disease, but for the causes I feel are in her best interest. To that end, I want to remind all parents of children with rare diseases and complex medical conditions that you know your child best. This is true for two obvious reasons. First, we typically spend the most time with that child providing clinical care and parental oversight. Second, by definition, a rare disease is just that – rare. This suggests not a tremendous amount is known about the given condition we find ourselves navigating. For those two reasons alone (there are more!) it is so important to listen to our inner voice, our gut and our past experiences.

There have been many times over the years where I’ve needed to find my voice and politely request more. More support, more budget, more space or more time. Whether it meant pausing on the idea of overnight summer camp and choosing day camp instead, questioning the timeline of a medication titration, electing to place a G-tube, or seeking out the most supportive seating for Sasha’s evolving postural needs, these were moments that required careful consideration. There were times when I stood back during meetings—while touring a camp at an open house, attending an appointment with a neurologist or surgeon, or meeting with a DME representative—when I needed to gather my thoughts, analyze the information in front of me, and advocate for what was important and what was right.

At other times, my advocacy is hindered by unrealistic expectations. This happens when I enter an appointment expecting complete alignment between provider, patient, and parent. I want to feel fully seen and understood. I want the clinician’s knowledge to be vast, their understanding of her syndrome complete, their answers certain. From that place, I imagine a dialogue unfolding effortlessly, clarity expanding without limits.

Of course, this is an unrealistic expectation at best, and at its worst, deeply irrational – especially when caring for a child with a rare disease. It’s as though I am searching for someone omnipresent, omnipotent, omniscient.

When such overly hopeful expectations are not met, I recognize the moments when I dig in my heels under the banner of advocacy. In my disappointment at the absence of concrete answers, I cling to the belief that I know more, that I know best, that I alone am the expert. And in doing so, collaboration stalls. I hear only superficially what the provider is trying to convey.

It’s while standing at that forked road that collaboration breaks down. This is when I overlook a provider’s deep experience, especially when it is not specific to my daughter’s disease. Advocacy needs to be rooted in realistic expectations; when mine blur, everyone loses, potentially most of all, Sasha.

These are the times when I’ve had to let go of my attachment to an idea, perhaps to even an ideal. Yes, I care for a child who is rare. Yes, there is a good chance when a specialist new to her care team approaches, they have perhaps never met a child with Sanfilippo Syndrome. I am often asked if medical residents can be present in an exam room when Sasha is receiving routine care at our state’s teaching hospital; and I am pleased each time I am asked this and gladly agree. Each interaction means one more future medical provider who can say, “I have seen Sanfilippo Syndrome before”.

Sometimes I pause when a remarkable medical provider shares that they have never treated a child with Sanfilippo Syndrome. I must remind myself that this neurologist has seen hundreds of children with epilepsy, that the speech language pathologist in front of us has conducted countless swallow studies, that our PCP has faced challenging confounding variables, that virtually all geneticists have treated numerous other rare diseases. It makes me ask, “What if both concepts can be true – that I know my daughter best and the provider might also be right?” As we both gain knowledge through managing my daughter’s care, we all might expand and grow together.

Recently, I pushed back against a recommendation from Sasha’s neurologist to titrate down one of her anti-seizure medications. For many reasons, I found his recommendation to be particularly bold. Sasha has a form of epilepsy known as Lennox-Gestaut, which tends to be very resistive to medications. There was a point in time just over a decade ago when her seizures became so severe it looked like the seizures, and not so much Sanfilippo Syndrome, would be the medical event to take her. We were tremendously fortunate to find something that’s worked these past 12 years. Why rock the apple cart now? I was able to offer this perspective and history to the neurologist, and we’ve been able to more cautiously approach dosing changes while maintaining her seizure control. What a pivotal moment that was. Through collaboration, a sense of harmony was forged within her care plan.

At another appointment this past year, when meeting a new geneticist, I was excited to glean some insight into some of the more challenging symptoms to recently arise for Sasha. She had never treated a child with Sanfilippo Syndrome before, but she had treated a patient with a very different rare syndrome, an individual who was also an outlier in the life expectancy for her given condition. Much like Sasha, this child also suffered the same challenging symptom Sasha was experiencing. Again, like Sasha, this symptom was uncommonly found in the comparable rare disease. Parallels were drawn by our new provider in real time, and data gathering was soon underway. This could one day enhance understanding of both syndromes. I am grateful for this provider for thinking outside the box and sharing her insights.

At Sasha’s annual physical in 2024, as her PCP brought the appointment to a close, she stated, “with Sasha doing so well right now, would she be interested in attending summer camp next year?” I was floored, with an initial (internal) reaction of “are you crazy?!” I now stand back in this new year underway. As I assess the alignment of many of my responses over the years, I recognize that my baseline is often to resist. The camp experience ended up being an unforgettable one for Sasha and our entire family, with tremendous meaning imparted to the entire household. To this day, new habits remain in place for Sasha’s betterment stemming from a single week at camp. Her little sister Nika picking out Sasha’s daily outfit, me checking the forecast each morning to see if we can safely be outdoors, my husband shopping for a land yacht of a handicap vehicle to ensure travel and adventure in all seasons. All of us are mirroring our roles from that sole week of summer camp.

All of this is to say, when I walk into a medical provider’s exam room, they have no idea the depth of the well that holds Sasha’s entire story, her traits, her personality, her medical history. But maybe, I don’t always appreciate the depth of their well either. As caregivers, we are the leader in our child’s care. We truly do know them best. But our care team members, if we are lucky enough – and I deeply hope we all are – they know an awful lot too.

The first time someone called me a courageous parent I was sitting in shock, in two-day old clothes, on the pull-out hospital cot. The sharp scent of hand sanitizer filled the room as each member of the palliative care team entered and formed an intimate semicircle in front of me and my son. I cradled him in my arms as the conversation began with a review of my understanding of the diagnosis, then quickly veered into realms of uncertainty. I asked what was going to happen, when the seizures would start, and why the malformation had occurred.

As the care team fielded my unanswerable questions, they offered gentle guidance back to the present moment, to what I could do now, to the baby sleeping against my chest.

The conversation then pivoted to next steps: follow up appointments, and an online resource I could explore – the Courageous Parent Network. The name seemed almost ironic, as I felt anything but courageous. Trembling-in-their-boots Parents Network? Distressed-by-a-Diagnosis Parents Network? Too-Frazzled-To-Sleep Parents Network? Those sounded like places where I belonged; but courageous? No way.

Emboldened by grief I said exactly that. “I’m not courageous.” It felt true. I was nauseous. My mind was frantically searching for an escape hatch from this version of parenthood. I was having upsetting fantasies of laying my child down in his crib and simply running away, out of the hospital, gone forever. I told the team that too.

The social worker looked at me with kind eyes, and said, “Well, I don’t see you running. You are still here. That is courageous.”

I was sitting still, doing absolutely nothing but holding my child; and, according to the professional in front of me, that was courage. If simply staying counted as bravery, then perhaps I could be a part of the Courageous Parents Network.

In the six years since diagnosis, I have continued, courageously, to be the mother my child needs me to be. For me, courage is setting up a suction machine in the middle of the night. Courage is researching which wheelchair will fit in the back of the car. Courage is calling the doctors office again, because something still does not seem quite right. Courage is requesting to train the school nurse on my child’s unique needs. Courage is asking a friend to drop off a meal. What does courage look like for you? Courage is learning from and loving your child the best you can, despite knowing that the grief will never resolve and that you cannot fix the diagnosis.

Being a part of the Courageous Parents Network is now a part of my self identity. When caring for a medically complex child, every single day requires grit and gumption. It is relentless; and it can be deeply lonely. I am grateful to the caregivers and care professionals who have shared their stories through CPN; they have guided our family’s journey and reminded us, again and again, that we are not alone.

The team came by during early morning rounds, when the hallway lights were still dimmed and the night shift was only halfway gone. Our daughter was hooked up to long-term EEG monitoring, her head wrapped in gauze and wires. We stood around her bed, watching her sleep through a silence so loud it felt deliberate. A cough echoed from the hall and someone closed the door. Closing a door in a hospital is its own kind of diagnosis.

The neurologist scrolled through the results on her tablet, paused, and said almost conversationally, “Her background looks terrible.”

I said, “So you’re telling me she’ll never pass a DOJ screening.”

She blinked.

“What?”

“You said she has a bad background,” I said. “That’s going to be a problem for a background check,” and then, dramatically hanging my head, “there go our hopes for her getting a job with security clearance.”

The silence returned as the room recalibrated around my joke. The doctor looked back at the tablet. I looked at my daughter, whose fingers were curled over her thumb the way they always did when she slept, a habit that had survived every medication change. The feed pump chugged a few times.

Then the doctor stopped, looked up, and said, “Wait. Actually… that’s hilarious.”

I’ve replayed that moment over and over, not because the joke was particularly good, but because of what followed it. Relief, connection, maybe. But also something more complicated. A guilt for having joked at all. For not bearing the moment properly. For not suffering well.

Many people use humor in awkward situations to smooth things over. To clear the air when it gets thick with discomfort, the way you might crack a window. Sometimes that discomfort belongs to you. Sometimes it belongs to the room. Sometimes it’s shared, but unevenly distributed.

In other words, we joke because we feel guilty.

When I joked about my child’s EEG sounding like a criminal record, it was because I felt awful. As a parent, I had failed at the one job parents are not supposed to fail at: keeping their children safe, intact, progressing along the expected arc of things. I was not all I could be. I was not all I should be.

Guilt.

But the joke didn’t end there. Almost immediately, it turned back on me. Guilt for saying something so dark. For not being reverent enough. For not performing composure the way we imagine grief should be performed. Initially, when the joke collapsed in on itself, it became further evidence of my inadequacy.

This is bound up with a belief we rarely name but often enforce: that those who suffer are responsible not only for carrying their suffering, but for carrying it nobly. We praise the parent who remains gracious. We admire the ones who speak softly, who never seem sharp or strange or inappropriate. We tell stories about strength and resilience and grace under pressure, as though grief were a performance and composure the yardstick by which it should be measured.

By that standard, humor is suspect. Especially dark humor that announces just how poorly we are shouldering our suffering.

And yet, parents will tell you that they joke in these moments because it helps them cope. Because the weight of the moment is too heavy to carry straight on. Because exhaustion has stripped away the energy required for decorum. Because humor offers a brief exit ramp from a reality that feels otherwise inescapable. ‘You’re funny!’ ‘Thanks, it’s my trauma.’

All of that is true, but I don’t think that’s the whole story. These situate humor only as a reaction against crisis, as something that negates or briefly erases what is happening. Humor as disappearance or denial.

I think humor can be something else entirely.

I think it can be one of the clearest expressions of hope.

We often imagine hope as dignified. Upright. Calm. The kind of thing done with steady hands and a composed voice. Hope, in this telling, is clean and forward-facing and noble. It photographs well.

But hope rarely looks like that in practice.

More often, hope is clumsy. It slips. It misjudges the angle. It trips over its own good intentions. There is a slapstick quality to it that rarely makes it into the stories we tell later. It’s a physical sort of comedy born of being too close to the ground to maintain any illusion of grace.

The work of hope, especially in medical settings, is full of these moments. You set out to do the right thing and end up apologizing to someone on the phone who keeps transferring you to another department. You fill out the wrong form. You miss the deadline. You bring the wrong supplies. You do everything with sincerity and still manage to look ridiculous.

Humor is the controversial admission of this fact.

It is the acknowledgment that sometimes, while doing the work of hope for our children, we don’t look brave. We look foolish. And instead of pretending otherwise, we laugh. This is where humor begins to do something important.

Hope, when it appears beside hospital beds or in discussions that start with “I’m sorry to tell you…,” is often treated as a sacred, solemn obligation. Something to be handled with hushed voices and appropriate reverence.

But hope does not live in the abstract. It does not hover above the room. It lives here, in the present moment among IV poles and medication schedules and bad coffee and conversations you hope to never hear the end of. Humor brings hope back down to this level. A laugh in the middle of a serious chat doesn’t always cheapen what’s being discussed; it reanchors it. It reminds us that we are still here, still embodied, still subject to timing and gravity and fatigue.

Humor, then, is not a distraction from the work. It is one of the ways we stay in it without being swallowed.

Not every joke counts as hopeful though. Some humor keeps things exactly where they are. It relies on cruelty or stereotypes. It narrows rather than opens. It releases tension by pinning someone else in place.

Hope cannot live there.

Hopeful humor has movement built into it. It leans forward. It refuses to treat the present as a prison. It acknowledges reality without embalming it. It makes just enough room to keep going.

For me, that humor often uses the materials of missed sleep, long nights punctuated by alarms, numbers that matter more than they should, the ever-disparaging look from my daughter. It doesn’t deny the darkness. It doesn’t float above it either. It stays close. It works with what’s there.

A well-timed laugh can interrupt grief mid-sentence. It can loosen a body that has been braced too long. It can turn observation into participation, paralysis into action. Not because it solves the problem, but because it allows movement through it.

That movement is what makes humor hopeful.

When the doctor laughed that morning, something shifted. We were no longer performing “seriousness” for one another. We were simply there, together, attending to what was unfinished.

By keeping us here, together, and moveable, humor, like the hope it expresses, refuses to let suffering have the final word. Humor does not deny the darkness. It insists that even here there is still room to act, to respond, and to choose one another again, and again.

Those who hope will always have the last laugh.

It’s sometimes hard to discern when a cascade has its onset. When a fleeting thought tying a current situation to a similar one suddenly opens a vast abyss and down the rabbit hole we go. Recently, as I turned my daughter Sasha in bed preparing for the shower that awaited, I was transported back 18 years to a resident’s room in the long-term care facility where I worked as a nursing assistant. My mind recounted the position of the patient’s bed, their off white johnny with pale blue and green abstract designs, its material slightly scratchy from frequent laundering and the question I was asked during every bedding change – “When am I going home?”

A cascade of memories followed – the quirky personalities of my coworkers, the late night, harried winter commutes, the excitement felt when a resident would eat a truly good quantity of their dinner.

And suddenly and for seemingly random reasons unclear, this catapulted me into reflections on all the specialists who follow Sasha. My head hummed with questions – was the newly developing guidance from our neurologist to decrease a medication overly ambitious? Should I make more time for the range of motion exercises recommended by an occupational therapist over two years ago? Was the quantity of g-tube formula shipped really going to carry us the entire month…do the prescribed 5 ¼ cartons per day really average out to 4.8 over the course of 30 days? Where are my math skills when I need them! Will her new wheelchair fit through her bedroom door? How funny would that be, after some 15 years with the old one, if we can’t use the new wheelchair in our new home(NOT)! Should I finally give up on the topical ointment we’ve employed for 10 months to treat her rosacea and move on to long term antibiotics? Should Sasha’s little sister Nika really be hanging out in a ski lodge each week, crammed indoors with the risk of flu so high?

I could feel the angst rising inside me as the cascade built.

As all these thoughts rattled through my head, it occurred to me that I have become the specialist’s extension – the vehicle through which so many tasks are performed. I embody the occupational therapist as I conduct range of motion exercises or the speech pathologist as I watch for swallowing patterns and listen for worrisome sounds. I roleplay a DME representative as I measure the bedroom doorway one last obsessive time. I imitate a case manager keeping tight oversight on Sasha’s needed medical supplies while juggling insurance approvals and prior authorizations like a seasoned healthcare agent. The registered nurse in me, while no longer in practice, closely monitors medication administrations, nutrition and hydration needs via Sasha’s g-tube.

As the cascade came to an apex, I wondered amidst the myriad roles, when do I become Sasha’s Mom again?

With that question at the forefront of my thoughts, I rolled Sasha over to remove her soiled diaper. As I did, I told her that this holiday season, we would sit on the couch together and watch Christmas movies. Not with her across the room from me in her sit to stand recliner while I’m on the couch (which in fairness affords a quick exit to tend to her four-year-old sister) but side by side, shoulder to shoulder, holding hands. I envisioned us, feet elevated on a shared pouf, cuddling with the same blanket on our laps. The image of our Christmas movie watching warmed me and instantly calmed the pending mental overload.

Complex medical parenting requires so many balls to levitate in the air simultaneously EACH and EVERY day. When our child is in maintenance mode (i.e. a steady baseline) the balls tend to be predictable – refills of medications, routine appointments, supply oversight, dietary planning and staffing coverage. It’s when things start to “go sideways” as my husband likes to call it, that life gets particularly challenging and loud. In an instant, we can be asked to maintain pre-existing roles while adding on foreign ones; the insurmountable cost of a wheelchair van as mobility starts slipping away; referrals for new specialists when mystery symptoms appear; consultations and surgical g-tube placement when swallowing capabilities decline; hospital admissions in the unfortunate event of a hard-hitting illness. It is during these times when our role as parent can feel as if it has completely receded – when the hopes of the simple act of watching holiday movies on the couch with my daughter seems elusive.

I often chuckle at New Year’s resolutions despite generating at least one or two each year. Those resolutions used to be quantitative in nature with satisfying measurable goals. But in recent years, they have become less constructed, softer and more idyllic in nature. I simply seek enhanced engagement and moments of true meaning with Sasha; not just making sure her medication refills are aligned or that she has enough incontinence supplies to stretch us to our next order, but qualitative pillars of joy and peace.

This holiday season, I watched exactly one Christmas movie sitting side by side with Sasha, our feet rested upon the new pouf my brother had gifted her. Shoulder to shoulder, I provided foolish Mom commentary at the hard to fathom scenes while wrapped in our shared blanket, holding hands. While I realize that some of the recommendations for making a successful resolution found in the SMART acronym (Specific, Measurable, Achievable, Relevant and Time Bound) were left out of my holiday pledge to Sasha, I got one of those five recommendations right. Relevance. Remembering that you are a parent first, creating moments of meaning, carving out experiences for connection, not just conducting the actions that keep our children physically functioning and safe, are paramount. I’ll take that sole movie viewing and moment of returning to Sasha’s Mother as a win.

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