RARE DISEASES IN THE MIDST OF A PANDEMIC: Silver Linings for Tomorrow?

Numerous studies and clinical trials are ongoing for Covid-19, the global pandemic that is raging through our country and the rest of the world. More than one-thousand[1], to be exact. Existing treatments for other diseases are already being repurposed—tested and used against the deadly virus in on-going trials. A novel vaccine is already being tested on humans—not mice, or rats, or monkeys, but humans.  A hoped for final product is expected in the next 12-18 months. All this in just three months’ time. And while many critics wait impatiently, frustrated that cures can’t be developed more quickly, those of us in the rare disease world have stood, mouths agape, incredulous at the speed at which therapeutics are moving.

What most people don’t know is that drugs, treatments, vaccines, and cures of all kinds typically take a decade or more to make it from the lab to humans. The rare disease world is a place where we have seen this timeline occasionally upended, but only if all of the pieces that go into drug development—research, funding, regulatory pathways, urgency, and sharing of scientific information--somehow come together in a perfect synchronous wave.  

When we started the fight to save our daughter’s life, nearly four years ago, spearheading research and funding for her rare disease—Charcot Marie Tooth disease type 4J (CMT4J), a disease very much like ALS, I was assured that our science was straightforward. A deadly disease that could be cured by giving back the gene it was missing, we already knew that too much gene was okay, too. CMT4J mouse models treated with gene therapy were living out normal lifespans compared with their untreated counterparts who died in just a few weeks.

Eager, well-meaning researchers offered hopeful, but supposedly realistic timelines of eighteen months to a clinical trial—similar to what we’re hoping for with the Covid vaccine, but virtually unheard of in the larger world of translational research, and typically not for a rare disease. When we had early proof of concept using gene therapy—signs that our treatment was working in mice—I thought we just might make it. Talia had already lost so much, but I held out hope that gene therapy could halt further progression and possibly even reverse some of CMT4J’s horrific effects in her and others with her disease.

Now, nearly four years later, I am dumbfounded as I look back on our original timelines and cost estimates. In the last four years Talia has gone from walking, to walker, to wheelchair. Her arms—once a way for her to express the buckets of joy that overflow and emanate, like an endless ripple effect, from her being—now hang limply at her side. Her breath and voice have been stolen, silently over the years, leaving her dependent on a sip-ventilator during the day and a bipap machine that breathes for her at night.

A halo of cornsilk-colored hair encircles her sweet, sleepy face as I enter her room each morning to begin the daily cycles of breathing treatments. She smiles up at me, behind her bipap mask, as she waits for it to be replaced with a single straw that gives her life while awake. Over the years she has adapted from one heartbreaking loss to the next. An infinite supply of resilience and a certain amount of eagerness to live life enough to show anyone the magnitude of love and lightness she has to offer, to bother her sister just enough to make it all real, to teach all of us an ounce of empathy.

What would her life look like now? If only we had been able to treat her back then.

The race to save Talia and others has become an endless, heartbreaking slog. Regulatory guidelines change constantly, driven by the never-ending quest for more and more knowledge and the need for safety beyond any ounce of doubt. We are stuck in a process meant for drug development for more common diseases, with little regard for risk vs. benefit in deadly diseases like Talia’s.

We need a treatment now. We needed a treatment four years ago.

And as we worked our way from a first meeting of scientific investigators, through proof of concept, onward to our first FDA meeting, the cost of a gene therapy trial inched ever upward. As more and more people pursued treatments and cures with gene therapy, the supply and demand cycle responded in kind. Estimated costs of getting through a phase 1 trial inexplicably rose from $2 million to more than $5 million in just over two years.

Like so many of my rare disease colleagues, I fear I will become yet another parent whose child is deemed too far advanced in disease to become part of a clinical trial--or worse, the next one to lose her child before a treatment or cure can be realized.

Given the swift reaction of scientists, philanthropists, and government in the face of Covid-19, it is obvious that research does not have to progress this slowly. Allied against a common enemy, researchers are working cooperatively, sharing information rather than competing in silos. Redundant or unnecessary pre-clinical studies and animal testing are being waived. Regulatory guidelines and restrictions  have been pushed aside to make way for a speedier path to a treatment.

I understand that a global pandemic fighting an unpredictable, deadly virus demands far greater attention than an ultra-rare disease. But I also know the other numbers—the fact that rare diseases affect nearly 400 million people worldwide. That 50% of these diseases affect children. That half of those will die before the age of five. That 95% of rare diseases still have NO known treatment or cure. And that most of the treatments for these rare diseases are being driven by the very parents and patients affected by them.

I am unaware of any annual death rate statistics for the rare disease population, but suppose we postulated that approximately 1% of people with a rare disease die each year as a result of their disease. This seems a conservative estimate. This would mean that 4 million people die every year due to rare disease. Every single year. A large proportion of these deaths are children.  If this were a pandemic causing this magnitude of devastation, the world would come together to address how to stop it.  

A separate, but vital conversation revolves around the cost of treating the cumulative effects of these rare, chronic, often progressive diseases—the billions of dollars that could be saved in hospitalizations, medical equipment and therapies if we could develop meaningful treatments and cures to prevent the devastating effects of these diseases.

Could the sheer recognition that research can move faster and more efficiently, become a silver lining to come out of a devastating global pandemic?

Scientists, FDA, pharma, biotech and the entities that fund them all realized quickly that outdated regulations and pathways set up decades ago for common diseases and far less urgent drug development needed to be pushed aside. Aren’t the effects of many rare diseases—a progressive and deadly course—similar to Covid-19’s worst cases? Can’t we—shouldn’t we--use this same model to address expediting treatments for rare diseases?

We actually have an existing model, in Milasen[2]*, where a drug designed to save the life of one girl was approached with a similar level of urgency, dedication and expertise as Covid-19. In less than a year Mila’s deadly form of Batten Disease was pushed from diagnosis to treatment because the stars aligned, from the science in the lab to a driven parent who succeeded in fundraising and conveying the urgency of her mission to researchers and FDA. But more importantly, Mila’s treatment moved so quickly because it was viewed as a treatment—a lifesaving drug--not a pathway for drug development.

Could a task force challenged with the expedition of rare disease treatments be modeled after Milasen and Covid-19?

Like everyone, the rare disease community has lost so much already during the Covid-19 pandemic: lives of real people who contributed to society in a myriad of ways; civil rights in a heated debate over who gets lifesaving care when hospitals are overwhelmed; individualized therapies and schooling; and research for nearly every area of medicine and health care not related to Covid-19 has come to a grinding halt.

As I write this, gene therapy is being looked at as another approach toward a vaccine for Covid-19. All eyes of the rare disease world are focused on this development, since gene therapy is a hoped-for holy grail for many single-gene rare diseases.

If we can get over a thousand studies and trials up and running in three months' time, openly share scientific discovery, rewrite ill-fitting guidelines and rules, and coordinate funding efforts between the public and private sector, then perhaps we can achieve a small percentage of this same effort for rare diseases.

Millions of lives are lost to rare diseases—an amount on par with a global pandemic. Every single year.

[1] https://clinicaltrials.gov/ct2/results?cond=Covid-19&term=&cntry=&state=&city=&dist=

[2] The New England Journal of Medicine. “Patient-Customized Oligonucleotide Therapy for A Rare Genetic Disease. https://www.nejm.org/doi/full/10.1056/NEJMoa1813279

Finding My Super Power Amid Covid-19

These are extraordinary times. Few of us could ever have imagined the broad swath of illness, death and economic destruction of a global pandemic. I am saddened and bewildered by our country’s lack of preparedness. I worry constantly for my fellow healthcare workers on the front lines, battling this virus every single day. I lie awake trying not to think about Covid-19 invading Talia’s body. Her respiratory status, stolen by CMT4J, leaves her with little to fight.

As we all go about our lives fighting, fearing, or fleeing this virus, it’s hard to know the best course of action. For most of us, we have been asked to fear and prepare for something we cannot see. We rely on—or ignore--dire warnings from the rest of the world, the CDC, our government, our neighbor. I am incredulous and scared. It feels like an altered state of dystopian reality, as I talk with friends and colleagues—on the phone, through a text, or while staring at my exhausted image on a Zoom meeting. Unfortunately, I know this feeling all too well.

I’ve become accustomed to living life with uncertainty and chaos.

*                           *                         *

Years ago, long before we decided to have kids, my husband and I took time off from our jobs and backpacked the Pacific Crest Trail (PCT), from Mexico to Canada. We planned for a year before leaving, working out all of the logistics, creating six months’-worth of dehydrated meals, plotting our route and off-trail stops along the way, ordering and testing the safest and most reliable gear and equipment. We hiked throughout New England, with full packs, simulating the weight we would need to carry on the trail over 2,650 miles.

In the midst of our planning, something horrible happened that would alter my life forever, plaguing me with incredible anxiety and self-doubt. I would never be quite the same person. PTSD and Imposter Syndrome would define me for years to come.

I thought our journey on the PCT would give me the space and time to heal from all of it. Instead, my anxieties and fears followed me like a shadow I could not shake. Our trip was an incredible gift, for sure, with endless panoramic beauty and crazy adventures, full technicolor Ansel Adams, 360-degree postcard views that left me slack-jawed from the Seussian plants of the Sonoran desert, to the snowy peaks and glaciers of 13,000-footers.

But underscoring it all was a feeling of unease and worry--an overwhelming sense of dread.

The PCT rides the crest and ridgeline of many daunting passes. We had already hiked over a thousand miles, fighting scorching desert temps and menacing rattlesnakes. We had found our way back after losing trail on a 13,000-foot glacier, at sunset, but for some reason a seemingly less challenging pass--Sonora Pass—loomed like a specter as we inched closer and closer.

John backpacking on Southern CA part of PCT

In the guidebooks Sonora Pass was notorious for swallowing up hikers who slid to their icy deaths with a misplaced footfall on its steep snow-pack. I read and reread that section of our guidebook frequently—okay, obsessively--memorizing every trail turn, every potential harrowing, icy traverse. But instead of feeling empowered by all of this information, I became more anxious.

Finally, the day of our climb over the pass was upon us. After sleeping at the foot of the mountain the night before, we awoke to gray skies cloaked in an eerie, billowing canopy of clouds pressing down on all sides. Snow or rain threatened at any moment.

This was long before the days of GPS-enabled phones, leaving us with only our senses and knowledge of weather patterns. After much deliberation, we decided to go.

I took a tentative step forward, concentrating on my feet. Step by step, pushing upward and onward. My legs began to cycle effortlessly beneath me. I peered back over my backpack straps intermittently, imploring my husband to hike faster. We stopped for brief breaks to fuel up with energy bars, GORP and water.  Food was now a source of energy, no longer a time of enjoyment or relaxation. I ticked off each mile in my head, as we flew past trail markers, finally hitting the summit, pausing briefly to celebrate, then practically sprinting down the other side.

Jocelyn hiking on the PCT 2001

In hindsight, it was one of our easier passes, but the cloud of self-doubt that had consumed me from before even the very first mile, as we stepped from Mexico into California, had become my biggest obstacle. 

*                        *                        *

Years later, my world felt familiarly upended, as it did before our hike on the PCT. We already had a healthy, spunky two-year old daughter, Teaghan. I worried some about losing our fierce, mother-daughter bond, about spreading my love beyond just my first girl, but our lives felt pretty perfect. It seemed life could only be made better by growing our sweet family.

Teaghan and Mom (Jocelyn): slobbery kisses 2003

But when Talia was born we learned she had Down Syndrome. My world fell out from under me as I worried about the person she might become. I had never known anyone with Down Syndrome, and suddenly all of those unspoken hopes and dreams that had filled my head throughout nine months of pregnancy felt like they were stolen in an instant, as Talia slipped from my body into the world.

My anxiety soared. I worried I would not love her. I worried about her future. I worried about heart defects and hearing loss, difficulties with breastfeeding—all common for people with Down Syndrome. My mind raced five, ten, twenty years ahead, wondering if she would speak or sign, go to Teaghan’s school—what would she do for work? I mourned those wordless visions I had held for her, in my head, for nine long months—skipping down the road, hand in hand with her sister, singing “Teaghan and Talia, Talia and Teaghan....”, playing soccer together, getting ready for prom—getting married and starting a family of her own.

Teaghan (2 1/2) Talia (2 days) - Sister Love

But when I stared into her blue-green eyes, peering up at me with so much observation and expectation, I realized the dreams I held for her were so many selfish assumptions and expectations for my unborn child. How could I have held these before I even held her? They were based on my childhood and life’s experiences, not hers.

I pulled her tiny body in close, encouraging her to nurse, each of us showing the other how to do so. We forged a quick partnership. I decided that breastfeeding was the one thing I knew anything about and made it my mission to succeed. I knew it was possible that she just wouldn’t have enough strength-- that bottle feeding might be easier. I tried to let go of the irrational stream of fears rushing through my head to focus on this one thing.

We became so close, so connected, out of both hope and loss—and love. Gobs and gobs of love poured out from every cell of my body and heart—a seemingly endless supply tethering me to my two beautiful daughters.

Talia ended up a breastfeeding superhero. Nursing became our thing. I knew she was healthy, after so many screening tests. I felt relieved that this was something I could do to make her even healthier. We quickly fell into a routine and I fell in love. Down Syndrome became a small part of our lives, its extra chromosome seemingly sprinkling a little more joy and magic over our family. We celebrated small things with gusto and those things that had previously seemed insurmountable became insignificant.

*                        *                      *

Eight years after hiking the PCT, our girls now a formidable duo at three and five, I found myself, once again, staring into the maw of devastation. Already challenged with weaker muscles and looser joints from Down Syndrome, Talia suddenly began to lose strength and hard-won milestones after a bad flu-like virus. At first doctors blamed it on her Down Syndrome. But then she got worse. We were handed a diagnosis of a rare, treatable disease. Endless treatments would follow—some helpful for a time, but in the end we would find ourselves down a long, winding path of misdiagnosis. After six long years we would hear the words every parent dreads: Progressive. Fatal. No treatment or cure.

Talia at 3; Teaghan at 6 - “Boatful of Love”

If you’ve followed our story you know this chapter.

This is the sad one. It’s still being written.

I wallowed in unspeakable grief, anger and sadness. I was heartbroken for my child, her life—our lives. How could one child be dealt such incredibly cruel odds? Her disease, CMT4J, is the result of two faulty mutations on one gene—one from me and one from my husband. The likelihood of someone else in the world having Talia’s same mutations is about 1 in 78 million people.

After days, or weeks of sleepless nights and rivers of tears, I found my lifeboat and climbed in. I armed myself with research and discovered the Rare Disease world, populated by brilliant parents and patients finding and funding their own cures and treatments because no one else would. I would become known as “Talia’s Mom” and feel both the power and the weight of the responsibility in creating Talia’s “muscle medicine”.

This was my guidebook, my power over chaos and hopelessness.

I knew medicine. I knew science—or at least a little. Perhaps I could rewrite the ending for this chapter.

*                          *                         *

Three and a half years later, we still don’t have our happy ending, but we’re closer every day, inching forward toward a gene therapy trial in a messy world of science, drug development and regulatory guidelines.

And just as we sign contracts to fund new research, we find ourselves in the midst of a global pandemic.

A novel, opportunistic virus that started in one, single human being has now spread rapidly around the world. Over the last three months, I’ve watched the numbers grow exponentially, spreading from one country to the next. I listened to the pleas of health care workers in Italy and began to hunker down. I gladly accepted shut-downs and social distancing guidelines in our state, as they gradually became more restrictive.

Early naysayers comparing Covid-19 to the flu now realize this grave mistake. As the numbers in our country surpass 300,000 and our death toll nears 10,000, the notion of “flattening the curve” could not be clearer. Influenza carves its path of destruction over many months. Here, our hospitals and health care workers are being asked to take care of the same number of people or more, in just a few weeks, many of them requiring far more aggressive and invasive medical intervention than the flu. Doctors, nurses, PA’s, NP’s and others are getting sick and dying. In some areas we are running out of front-line personnel, PPE, ICU beds, ventilators and spaces in the hospital morgue. Refrigerator trucks, the national guard and whole armies of medics are at the ready.

All at once I crave and abhor more information. My medically-trained brain wants to know the facts. My anxious brain fears Talia will get sick. She and my sweet, beloved Mom—and millions of others—fall into those highest risk categories. I cannot stop thinking about life without them.

It feels as though the wolf is waiting outside our door.

So much is on hold, as we wait, endure, respond. Businesses have shuttered their physical spaces as though preparing for a hurricane. Economies large and small may collapse. In our house, beyond classes, friends and school events, Life is on hold in many other ways. Talia’s medical appointments and therapies get erased from our calendar each day. A surgery to straighten her spine with a 75-degree curve was planned for this Spring. She needs the surgery to help with breathing and to sit more comfortably. It too is on hold, deemed “elective” and far too risky to be done in any hospital right now. I worry we are losing our small window of opportunity—that by the time surgery is possible, her breathing and curve will have worsened, making an already complex surgery more difficult.

Crazy clothes in crazy Covid times…Global Pandemic, 2020

Extraordinary times. Extraordinary measures.

When the anxious noise in my head grows to a deafening roar, I look to other times I have felt such dismay and chaos. Where is my guidebook? What are my resources?

We are on Day 25 of our self-quarantine in order to provide a protective bubble for Talia. She would never survive Covid-19. We go out only for walks, runs and bike rides. No one comes in. I try to extrapolate our hunkering down to knowing that we are four less patients for our already-overwhelmed health care workers.

I don’t know how long our bubble will last, or how long we will have to maintain its borders. But for now it is the one thing I can control. It is all I have. It is my super power.

Help In A Sea of Loss

I thought he was dead.

“Is he dead, Mom?” Talia asked as we peered into the brightly-lit tank in the waiting room at Spaulding Pediatric Outpatient Center. Talia and I spend a few hours here every week, trying to hold onto every muscle and nerve fiber for as long as we possibly can. The fish tank is our first stop after we check in, but we had never noticed this little guy before—a tiny, transparent, silver fish, just over an inch or so, lying on the bottom, motionless. At other visits we had been distracted and dazzled by the other, bigger, colorful fish darting about the waters above him—their lithe bodies a flash of color and motion.

“Um, I don’t know—maybe he’s just sleeping,” I replied sheepishly. Hovering over a bed of gray-white pebbles, surrounded by a plastic forest of kelp, he was certainly the smallest fish in the tank. He looked so vulnerable out there by himself--his black, bug-eyes fixed and scared-looking on either side of his head.

When our beloved physical therapist, “PT Heather” arrived, moments later, I gave her my wide-eyed “something’s-wrong-in-there” look, while jerking my head, saying “you might need to get a net for the ‘sleeping fish’ on the bottom of the tank,” my fingers forming air quotes above Talia’s head.

“Oh, that guy…I think he’s just sleeping—that’s where he usually hangs out.” Heather reassured us as she led us back toward the treatment rooms.

Tal and I looked at each other with doubt, as we craned our heads, peering back anxiously at the tank, hoping for some sign of life before we left our little friend.

In the days that followed I couldn’t stop thinking about him—or her. My daily thoughts consume me with worry and dread and the emotional toll of caring for my sweet girl, as she faces an endless barrage of loss from a progressive neuromuscular disease.  And yet this little fish somehow penetrated the frenetic space that is my brain, a distracted, sometimes joyless organ consumed with finding a way to save my daughter. With each passing day I try to shore up a wall against the ever-rising tide of nerve death and weakness, as I frantically search for other ways to treat her disease, while we wait and wait for a treatment that we have championed forward. The chinks in the wall grow bigger with each passing day, as I drink from a firehose of despair.

Why was I thinking about this fish? Would it be the last time we saw him? My life so full of “lasts”--the last time she walked. The last time she slept without a machine to help her breathe. The last time she lifted a spoonful of yogurt to her mouth. The last time she touched her face to brush away a tickly wisp of soft, blonde hair.

* * *

The following week we made a beeline for the tank, distractedly announcing our arrival at the front desk.

And there he was. Swimming, or hovering in that same spot, his body still. 

But this time he began fluttering his fins and puckering his tiny mouth open and closed. And then, what happened next still leaves me wondering about unknown forces in the universe. In an instant, six larger fish, silver and flat and quick, surrounded our little guy on all sides and above. I thought he was a goner—that we were about to witness some sort of fish cannibalism, like something out of National Geographic. But then the fish began a sort of dance, or something that reminded me of the flying formation of geese as they fly, fervently southward each Fall. One of them would swim away from the group, take a few laps around, return, and send off another who darted off toward the coral and bubbles, then find his way back and tag another to do the same. All the while our little fish remained at the center, barely moving.

Was this little guy sick? Or injured? Was she conserving energy to create and lay future eggs to propel her DNA forward into her watery world? Did she need the protection of the other fish--who somehow knew this?

The next moment “PT Heather” came and whisked us away, once again, interrupting my sociological study of the fish tank. As we wheeled back, Talia chatting about the exercises and machines she was excited about that day, we passed several other therapists, each of them greeting Tal with an enthusiastic “hello” or a “low five”, extending their hand downward to meet hers at its newer resting place, motionless, on her lap.

* * *

When we first met Heather, in 2014, I was suspicious of her sweetness and soft-spoken nature. If you know Talia you know she can be strong-willed—“a girl who knows what she wants” I’ve heard many a therapist or teacher say (sometimes accompanied by an eye roll or smirk). And while I am fiercely proud of this aspect of Talia’s personality, I know it can be challenging. I worried that Tal would have Heather wrapped around her finger, that those precious minutes and hours spent in physical therapy would be wasted on so much coaxing and cajoling.

We had also just left our trusted PT of the previous three years, “PT Tom”. He was kind and gentle and patient and had established a wonderful bond with Tal. He had enticed her into taking her first real, independent steps—a stilted, cautious journey of four tentative footfalls not unlike that of a newborn calf. Tal adored his funny ways and games. But when we returned after a long post-surgical hiatus, having just graduated from a daunting chest-to-toes, bright-orange SPICA cast after six long months, to a body brace of equal proportions, PT Tom was overwhelmed. He was clearly nervous and uncertain about how to get her walking again.

I had practically run from his office, holding my girl and her brace, a river of salty tears streaming down my face. I felt abandoned and alone at a time when we so desperately needed someone to hold our hands and help us to get Talia back on her feet.   

If Heather felt daunted by the prospects of rehabilitating my girl out of her contraption she didn’t show it. Her Mary Poppins-like approach--pulling out endless props, games, music, and role play from her repertoire--worked magic with Tal. Within just a few weeks she and Talia had a routine and a rapport. Talia even worked through her horrific sleep study experience with Heather by re-enacting it and giving Heather the role of “wake-up Fairy”, complete with a wand full of glitter and stardust to end the sleep study and bring Talia back into the world of the awake.  

Heather discovered what motivated Talia to take another ten steps after she said she was tired, to reach up just five more times for iridescent, floating bubbles, or to just call it a day and have a dance party with Queen playing over an iphone, metallic pom-poms shaking to the beat, and five other therapists joining in on the fun.

Together we got Talia back on her feet. She was walking again. For a time there was progression—longer times on the treadmill, more steps taken down the long hallway, higher pegs reached on the wall above her head. And then Talia’s disease began to rage. Progress came to a screeching halt. Over time, the steps dwindled, the distance shortened. And at some point we finally had a diagnosis and realized that this loss of skills was our new normal. We would not be rehabilitating anymore. It was unlikely that we would see further progress.

I’m sure people have characterized my reaction to Talia’s diagnosis—the relentless quest for a cure, or sometimes the refusal to acknowledge that her increasing weakness demanded a new piece of equipment—as sheer denial. But Heather has stood patiently by, over the years, with every loss, every slide backward, holding my hand, and waiting for me to get there in my own time.

I have shown up to PT on more than one occasion noiselessly broken and tearful, behind Talia’s wheelchair, out of view of my empathetic girl. Heather is quick to whisk Talia away to some fun distraction, giving me the space to breathe and cry.

As time passes and abilities change, Heather has brought other therapists into Talia’s circle of care. “OT Jen” has become part of our weekly routine, as we try to fire still-present nerves and muscles in arms and hands and provide Talia as much independence as possible. “Pool therapy Jen” meets us each week, expertly and gently putting Tal in the director’s seat each session. And while the water provides a way to stand, jump and float, its added pressure on Talia’s diaphragm makes it even harder to breathe.

We don’t really measure success anymore by the number of steps or the length of time Talia can complete an activity. The goal now is to hang onto what is left for as long as possible, to not go backward. But I know this is impossible without treatment.  

The dance parties continue, though they look a bit different—Queen has been replaced by Macklemore. A wheelchair is a substitute for what used to be supportive hands and arms. Talia has found a way to dance in her chair, swinging and bobbing her head in time to the beat. The cast of characters of therapists and students is ever-changing, as they slip on their dancing shoes to join us. Talia’s giant, joyful smile remains the same.

And while I sometimes feel so lost in this sea of despair, drowning in love and heartache for my dying child, I know that we are surrounded by so many helpers. So much kindness. An enormous network of support and love, enveloping us at Spaulding, at Talia’s school, within our community—in so many aspects of our lives. We are broken and made whole again each week—each day—as we live on the edge of so much grief and hope.

Rare Destinations: Vacationing with a rare girl

It is no small thing leaving on vacation when you parent such a rare girl. It is a much larger thing when you leave for a tiny island off of Maine more than an hour away by ferry, to a cottage with no running water or electricity. Something akin to camping with walls and a wooden floor. School had let out just a few days earlier. I was ready to leave the every-day grind behind for six glorious, unplugged days reuniting as our fearsome foursome. It has been a tough year. Hell, it has been a tough decade.

I stand in our driveway, staring at our vehicle, overwhelmed by the amount of stuff packed in and above—we both seem to heave and sag from the sheer weight and burden of it all. I worry that our beloved Maine destination no longer makes sense. We are tempting fate. What if Talia gets sick or has breathing problems while we’re there? My mind writes the headlines I am sure will appear above the fold, in the Bangor Daily News: “Reckless Parents Risk Child’s Health With Island Excursion…”

Three hours up the coast of Maine, out of the picturesque port town of Rockland and a sometimes vomit-inducing ferry ride, North Haven is a soul-feeding, magical island nestled in Penobscot Bay. Its eleven square miles of fir, evergreen, birch and the world’s most gorgeous display of lupine is woven with a constant ebb and flow of sea glass-colored foggy mist and the heady scent of sunbaked pine.

Surrounded on all sides by endless channels and small harbors, grassy meadows and rocky outcroppings standing tall above the sea, around 350 hearty souls make North Haven their year-round home. Summer months swell to as many as 1,500, attracting an eclectic mix of visitors who flock to the island for a few months or just a day. From hippie rusticators, to fourth and fifth-generation summering families, to a few famous or infamously rich, with gobs of money and yachts the size of a small country, the tiny downtown comes to life with a buzz unknown in the colder, darker months.   

Nearly twenty-five years ago, I discovered North Haven through the eyes and heart of one of those fourth and fifth-generation summer sojourners. Having already fallen in love with my best friend and future husband, I fell almost as hard for North Haven.

In our twenty-something lovesick haze it seemed we had the island to ourselves, as we roamed its beaches and forests, digging mussels and clams, swimming in its body-numbing cold waters. I could feel the ghosts of John’s relatives who had made North Haven their year-round home, working the land or sea. Many were teachers, escaping to its shores for two or three blissful months each year. Another was an artist whose gorgeous watercolors now grace our walls and so many others’ acquainted with the island.

A certain relative--a favorite uncle or cousin--was known as the “Mushroom Man” or was it the “Mushroom King”? A kind man with a lumberjack’s beard and a lilting, hard-to-place accent, he was heralded for his super power abilities to locate exotic, edible fungi. On a long weekend, many years ago, as John and I floated around the island, buoyed by our engagement exacted through wishing stones and a celebratory, chilled bottle of champagne hoisted from a lobster trap several feet under the sea (but this is a story for another time…), we were foraging for mushrooms, immune to the rain and mist soaking our clothes, as we turned a corner and nearly fell into the arms of the “Mushroom Man/King”. He carried a canvas bag of spoils and helped us to find even more. I would not have been surprised by the sight of a wood sprite flitting among the pines or a selkie staring curiously back at us from a cresting wave. It is that kind of place.

*                           *                           *

As I turn my attention back to the car and its load—the weight of worry in my heart and mind—I consider the possibility of not going to Maine. We have shared the island’s raw beauty with our girls since they were small babies—its magic now deeply rooted in their souls now, too. I heave a deep sigh, recalling what then seemed like an enormous challenge—to heft along a portable crib, a week’s worth of diapers, tiny clothes, baby backpacks and slings.

It is tempting to stay put, to give up on trying to recreate the comforts and lifelines of home in such a remote place. As CMT4J progresses through Talia’s body, devouring her nerve cells, turning muscle into fat and cellular waste, she loses more and more strength. Holding her head up, moving her hands—breathing-- become increasingly challenging. Life is harder every day. It would be easier to stay at home than venture out our front door.

And so over the years the challenges mount. The planning becomes more difficult and deliberate. The things we carry get heavier and harder.

Since Talia had the flu and went into respiratory failure a year and a half ago, her breathing needs have become our biggest concern. She needs a bipap breathing machine at night to keep dangerous CO2 levels down. She uses a nebulizer at least twice a day.  A cough assist machine helps to clear her lungs and enable her to cough—something she no longer has the muscle strength to do. These all sit, at the ready, amongst packed bags of clothes and food.

Two large shoe-box-sized batteries provide enough power to run all of this equipment for a few days. A solar panel at the cottage supplies additional power and recharges the big batteries.

Talia’s wheelchair is the next most necessary piece of equipment. Her neon-green stander made the cut this year—its contribution to daily life is now enormous, allowing Talia to stand-- its straps, harness and knee blocks holding her upright, giving her a chance to participate in activities at eye level, increasing bone strength and aiding in digestion. Its base takes up a quarter of the space we have behind the girls’ seats. Its bright, green metal legs and connecting parts extend outward and upward, like a spider, toward a large, black, upright, seat. One has to be clever and spatially gifted to make the most of the space in between its appendages. Next to it sits a large, cotton bag full of blankets and pillows, the necessary props to help elevate her head and chest and support arms and legs in the absence of a hospital bed.

On top of the van sits an adaptive, all-terrain wheelchair. Its long, low-slung frame and knobby wheels give us a fighting chance at bringing Talia with us in the Maine woods or down a root-covered trail to a rocky shoreline or gravel beach.

Scattered among the sobering collection of medical supplies and equipment are visual reminders of why we make the journey. Teaghan’s new, sky-blue kayak rests alongside the adaptive wheelchair. Games of all sorts sit piled up in neighboring canvas bags. Books and trashy magazines call to me from the front seat. Paddles and PFD’s. Headlamps and rainboots for exploring the ravine below our cottage—or the long walk to the outhouse. Five days of junk food, wine and dark chocolate. We will not go hungry. We will not lack for things to do.

It is a lot to consider. Its load both a burden and a ticket to live a meaningful life. This life—how extraordinarily challenging and beautiful it can be all in the same breath. How joyously fulfilled and desperately empty I can feel all at once.

We’ve talked long and hard about the implications of staying or going. The missed opportunities if we don’t. The risks if we do. We don’t know how many years Talia has. Only two short years before Teaghan heads off to college.  We’ve decided that a safe, predictable life devoid of risk and shared adventure is the hollowest of shells in which to live.

I have seen the shed casings of cicadas—a paper-thin, fragile vessel—an exact replica of the creature, itself, frozen for a moment in time, no trace of life—a broken shadow of its former self.

My mind conjures up such images in the darkest of hours. Both haunting and helpful in pointing the way toward living.

And then, because of it--or in spite of it--all, we go.

We fold ourselves in and among all of it, slipping out of our driveway in the pink-orange light of dawn. We drive and hug the coast, stopping only when we see the slips of Rockland Ferry tower above, waiting to transport us across the sea.

Later that morning, I wrap my arms around Teaghan as we stand, against the wind and rusting rails of the ferry. The pointed firs of North Haven’s coastline come into view. A halo of fog encircles the tiny island. An osprey takes flight from its nest atop a lonely outcrop of jagged rocks. I look down at my daughters’ faces. They are serene, content, transcended. And I know that we will have chosen to live.