Our daughter had always suffered from a curvature in her mid-back, but as she grew her scoliosis affected her whole spine, from her neck to her hips.

Six years had passed since the rash of surgeries on her eyes and her foot and her skull. The early crises had tested us but left us stronger. Gabriella now enjoyed attending Lakeview School. Her brother Alexander, long a favorite in the hallways, started Kindergarten. We accepted her limitations and embraced his possibilities. And we allowed ourselves to accept a sense of normalcy.

Even if she was increasingly cranky.

Gabriella often complained, but now it was continuous. Suffering from precocious puberty, her emotions became volatile. We lost our patience at times, until guilt set in. Then we’d baby her. She developed a pout, sticking out her lower lip whenever her feelings got hurt, and if we laughed, she would sob until we begged for forgiveness. But beneath the tragicomedy of the pout, something more insidious was at work.

Her body slumped because of her low muscle tone and we wondered if that caused her discomfort. Finally, her physical therapist at school suggested we have her tested for scoliosis.

Lisa brought her to the orthopedist for an evaluation. We had known this doctor since the week of Gabriella’s birth, and while we resented his early response to my question whether our daughter would ever walk (“some kids are just good sitters”), we had grown to like and respect him. He guided us through the challenges with her feet, casting them and operating on them. Now he monitored her ongoing progress with her AFOs, plastic braces she wore to keep her aligned from her knee to her toes.

The orthopedist ordered X-rays, but the prognosis was clear. Gabriella had scoliosis, and it was likely to get worse.

With trepidation, we watched the shape of our daughter’s back become more twisted. As had increasingly been the case, Lisa bore the brunt of the doctor appointments, and one evening I got home from work and she told me Gabriella needed a scoliosis brace. Similar to the AFOs, this orthotic device was like a chest-plate of medieval armor, only made of a hard plastic and molded to fit her torso. It was snug to her armpits and reached from her upper vertebrae to her hips, and we secured it with strips of Velcro that stretched across her ribs.

The purpose of the scoli brace was neither to reverse her curvature nor even to stop its progress, but only to slow its inexorable worsening. We knew what that meant.

More surgery.

We learned about spinal fusion, the procedure she would need. The titanium rod that would be inserted against her spine would correct her scoliosis, but it would also limit future growth. As a result, the orthopedist hoped to put off surgery as long as possible.

In the meantime, Gabriella expressed her displeasure when we fitted her into her new plastic turtle-shell whenever we got her out of bed. The brace made her a little harder to lift and fit into her adapted stroller. It took a while, but she became used to it and her complaining lessened. But her discomfort lingered.

Time passed. As with the AFOs for her feet, with growth we replaced the scoliosis brace with a larger version refitted to her changing back. The orthopedist raised the prospect of spinal surgery during regular visits. While the shadow loomed, we seemed able to delay it, at least for now.

At last, Lisa asked me to join her for her next appointment. He sat with his hands folded, his voice calm, and told us we had to act. If we waited much longer, one surgery would become two. First, they would enter through her back to do the normal spinal fusion, but within days they would do another, cutting through the front. I remember a fog seeping into my brain. After six years free of surgical prep and ORs and waiting rooms and general anesthesia, we faced the most invasive operation of our daughter’s life. Gabriella was older, too, and I pictured her pouting and crying. But delaying it any further would necessitate a second procedure, otherwise unnecessary.

We chose the obvious option. And we prepared ourselves once more for surgery.

To be continued…

In twenty-three years, we have experienced moments of joy and of relief. Likewise, we’ve known the terror that accompanied the dehydration and surgeries and the tumor on her skull. But sometimes there’s a quieter fear, a dread like a prickle on the scalp, often signaled by a beep in the night…

This past Thursday, Gabriella had been crabby. Nothing we did soothed her for long, and we were glad to get her into bed in the evening. When we attached her pulse oximeter to her toe, however, her heart rate was elevated. Then she had a seizure.

Gabriella has been experiencing seizures for years, but this one drove her heart rate to the highest level I can ever remember, nearly 170 (although not all of them come at night when we have the pulse oximeter attached). When she came out of it, Lisa took her temperature: no fever. But the pulse ox continued to beep, bringing that worry I’ve often known.

I have an ambivalent relationship with that device, with its white plastic wire and its digital display. It brings back awful memories of sleeping in hospital rooms during prolonged stays.

Even today, we use a baby monitor to track our daughter’s progress through the night. We hear the pulse ox beep when her oxygen dips below 90%, or when her heart rate exceeds 125 or goes under 50, which thankfully, is seldom. The sound it makes when alerted is insidious…beep-be-beep beep beep, beep-be-beep beep beep.

During the early years, it was unnerving to wake up to that clarion. I’d leap out of bed, hurry downstairs, wondering if my pulse was going as fast as hers. Upon reaching her room, the first thing I would do was to push the button to suppress the sound for the next two minutes. Sometimes the beeping was alerting us to something of concern. Just as frequently, it seemed, the small ring around her toe (it looks like an old-fashioned Band-Aid) has come loose or the connection skipped a beat. And when she sleeps, Gabriella’s heart rate often goes below 50. As a result, several times a week, I reset the lower limit to 45 to restore silence.

It can be easy to become complacent, and more so when you want it to be a mechanical failure or an excess of calm. But sometimes, it’s not so.

On Friday morning, her skin became warm. With her fever, she grew lethargic. We attached the pulse ox during the day, which was unusual, and found her heart rate peaking at over 150. The nurse listened to her lungs and said she thought they sounded junky. But if she was congested, why was her oxygen level so strong?

Lisa consulted Gabriella’s doctor and got a prescription for an antibiotic, plus we gave her Tylenol. I sat alongside the pulse oximeter, poking my thumb at the button every time it sounded, trying to get it before the first beep bloomed into that horrid sequence.

We alternated being on-call for two-hour increments. That night was stable, but I awoke at 7 a.m. to the beep-be-beep beep beep-ing. My first thought was that her heart rate had fallen once more under 50. But when I pressed my thumb to silence the pulse ox, I found that her oxygen level had dropped to 89, then 88. Most mornings, the beeping is enough to wake her, but she slept on. Her forehead was warm again, so I put a Tylenol caplet in a syringe with water to dilute it for delivery through her G-tube.

I waited in the shadows, leaning over to push the button every two minutes. The numbers became depressed: 86, 85, 83, 80, and down into the 70s. This was during my shift and I wanted to let Lisa catch up on rest, so I tried rewrapping the toe-ring and got immediate gratification, with the oxygen level soaring to 94. But it soon slipped back into the 80s and then to 75. I flipped her to her other side, but that didn’t help either.

I wondered if I would need to haul out the oxygen concentrator, a rolling piece of equipment that has always intimidated me, and not least because its use often heralds a trip to the hospital. But with first light, things normalized.

As the day progressed, we held our breath and wondered. Whether the fever would persist. Whether she would suffer more seizures. And whether more beeping in the night would bring another round of dread.

Saturday was much like Friday. In no particular order, Gabriella spiked a fever, we administered Tylenol and the antibiotic, she cooled down, she got an extra breathing treatment, her heart rate normalized. By bedtime, she seemed better.

Again, we traded off that night. When I woke for my shift, I heard a great rumbling. Gabriella’s oxygen had fallen and, after trying chest PT and flipping her from side to side, Lisa had set up the O² concentrator. The growling-wheezing sound brought a new round of anxiety, but even that didn’t drown out the beeping.

Sunday was a lot like the prior two days. With three doses of the antibiotic down, Gabriella seemed to be better by bedtime, then things slipped again. This time we didn’t hesitate long before setting up the concentrator, facing another night of lousy, interrupted sleep. By Monday morning, she was cheerful, trying to encourage us despite a low-grade fever.

Once more the day held new promise. And yet I know that when darkness falls, I will feel that familiar dread, my subconscious mind alert. Awaiting those things that go beep in the night.

Even at four, Gabriella hadn’t outgrown her baby carrier. She grew in sporadic bursts, but like most things, her weight remained behind the norm. So did her length, a word that bothered me because she was at an age where parents described their children as forty inches tall. But because she was unable to stand, they measured her lying down and reported her height in length.

Not long after starting at Lakeview School, Lisa brought her to their well-respected wheelchair clinic. This, too, was a reality I had come to gradually. Because our daughter had an angelic face, it wasn’t always obvious in public that she was too old to be sitting in a stroller, at least until she contorted and whined. We absorbed that we would need to move to something more grown up, but the idea of our child in a wheelchair seemed so final.

The director of the wheelchair clinic did a thorough evaluation and confirmed our fears. Gabriella couldn’t sit independently and she lacked the necessary support. As a result, she wasn’t eating well and her posture was worsening. She needed a platform that made it easier for her to swallow and improved her digestion.

They introduced us to the Panda mobility buggy. I had never imagined such a thing existed, a whole system of devices. While out and at school, her buggy would sit on a wheeled base. The buggy and base were detachable, allowing me to stow both pieces in the trunk of our Camry when we took her out. The Panda came with a separate component to snap the buggy into at home. Lakeview’s recommendation also included a solid seat and back customized to fit Gabriella, and a variety of other parts, including supports for her torso and legs and feet. There was even a sun visor because her eyes were photosensitive following her cataract and strabismus surgeries.

My sorrow at the thought of my child forever in a wheelchair turned to hope. This system would help her eat better and would correct her worsening posture. Months of work culminated when Gabriella’s pediatrician wrote the prescription and we submitted to the insurance company.

It took them only two weeks to mail us their denial “because custom chairs and equipment are not a covered benefit”. We were disillusioned.

This equipment had piqued my optimism. If necessary, I told Lisa, we would pay for it ourselves, even though it cost more than $5,000. I was prepared to cut corners to give her the solution she needed.

Then we heard that many insurance companies deny expensive equipment in every case. They knew some families would pony up the cost themselves, while others would give up. Not long before, I had moved to work for an organization well known for ethical behavior. In comparison, this unfeeling approach seemed wrong.

We decided to dispute the rejection.

As always, we were thorough in our appeal. And as usual, Lisa did most of the work. Over time, we encountered these rejections for everything we sought for our daughter’s care, but this was a new experience. We rebuilt a case we thought we had detailed in our original submission.

And then we waited.

In mid-December, six months after their denial, we received a response from our insurance company. The letter started by telling us they upheld their rejection of the sun visor and the basket, calling them convenience items, and not covered benefits. I never knew why they felt the need to make this point first – perhaps to save face? They went on to say they had reversed their decision and authorized coverage for the Panda mobility chair, home underframe, shoe holders, seat insert with lateral trunk supports, tray, headrest, anterior chest support and the labor to install.

It was an early Christmas present from an unlikely Scrooge.

Soon after the New Year, Gabriella was getting around in her purple Panda. She ate better. Her posture still wasn’t great, but she gained reinforced support.

And we learned a valuable lesson that would benefit us in the years to come, and that we would pass on to others: when the insurance company denies your submission, No doesn’t always mean No.

As more of us do than would care to admit, I look to my faith in God more when my needs are greater, and they had never been greater than they became when we found ourselves responsible for our fragile little daughter.

Like a glass ball balanced on my head, I lived in constant fear those first few years that she would fall and shatter. So I prayed to God. Or rather, I beseeched.

As a child, I considered God an unknowable abstraction. My faith was a collection of rituals, the scapular from my First Communion, the rosary beads, the incense dispensed through the congregation and the edges of the cross on my throat on the Feast of St. Blaise. When Gabriella came, He became all-powerful, able to bestow a much-wanted baby but no less able to make her sick.

And so, just as much as I counted on Him to spare us, I also accused God of creating this situation in the first place. I recognized my blasphemy, but I was weak.

Before Gabriella was born, Lisa and I prayed the Fatima devotion over five months. On the first Saturday of each month, we attended early morning mass at the church or the convent, among a congregation of a dozen. We offered rosaries and went to confession. We had no idea what was in store for us, but thought it couldn’t hurt.

For a while after our daughter’s birth, I wondered what the point had been. I felt a twinge because I’d forgotten the rosary on one of those Saturdays, fearing that I had ruined the whole thing, but I was unable to believe in an unforgiving Old Testament God. I concluded our Fatima ritual had been a waste of time.

Later, Catholic guilt or fear surfaced another possibility. What if the Fatima devotion had helped Gabriella to survive her dehydration or other crisis of those early years? Piety was easier when things were going your way.

Several well-meaning souls offered us a compliment, saying that God only gives children like Gabriella to parents capable of handling the challenge. I would bow my head and thank them for their faith in our abilities, but in the wee hours, when my despair was the darkest, I would wish we were less capable.

Many nights I felt as if locked in a dungeon. Our daughter lay awake, complaining and impervious to sleep, while Lisa and I took shifts for ninety minutes or two hours at a clip. As the clock ticked toward the end, I remember the relief (I didn’t see it as selfish at the time) as I staggered down the hall and tagged my wife “it”.

Patience has never been one of my virtues, and it was a relief to make it through my shift without losing my temper. Other nights were worse. Anger would swoop over me and I would stomp around her bedroom, taking in the closet doors I painted, the crib we purchased, the bumper and pillow we received from loved ones, all to ready her room for her. Unfortunately, I was less ready.

My bitterness was never aimed at her. She was wholly innocent.

I didn’t blame Lisa or myself either. From the earliest diagnosis, none of the explanations for Gabriella’s condition suggested we were responsible. That was a huge blessing.

I wasn’t raised to believe in fate. So I blamed God.

I begged to know why so many children were born to uncaring or abusive parents, abandoned or even killed. Why, I pleaded, had this happened to our child?

In those moments, I had no use for the logic that God gave us the challenge because we could handle it. In the middle of the night, every whinge, every gasp, every surge of vomit would send me into despair. More than once, I pulled off my golden crucifix (never hard enough to break it, mind you), gripping it as if to crush it in my fist, tossing it aside, even hating or cursing God. I knew we were lucky to have Gabriella, and I hoped that she was fortunate to have us, too. There was no doubt she needed us. Almost at once I would feel remorse, crawling after the discarded chain, my hands pawing the rug, until I found it and slipped it back around my neck with a tiny prayer of apology, certain that it was too late, that I had assured myself of eternal damnation.

And that led me to another conclusion, flickering in a grim corner of my mind. Maybe Gabriella was my shot at redemption, even heaven. I questioned whether I’d had much chance before, based mostly on the sin of apathy.

I’ve always been an optimist, but the early travails and the diagnosis sapped me of my positivity. What if my overreactions in the dark had cost me my opportunity before I even recognized it? I rejected that prognosis, accepting that God was forgiving. If only I could forgive myself.

I seized this new chance, finding something to get me through the bleakest nights. Like an alcoholic in recovery, sometimes I slipped, but I had found a flicker of faith. It had been with us all along, in the innocence of our daughter.

At the beginning, we thought a genetic diagnosis would help us conquer the mystery and achieve our quest like the hero and heroine in a fairy tale.

There’s something comforting about having a name, even though I, at least, found all these medical words to be a foreign language. We knew a diagnosis wouldn’t solve our daughter’s problems, or our own, but we hoped it might help us focus in the right place. One syndrome had a higher rate of heart disease, another a tendency towards epilepsy.

So like the young princess in the fairy tale of Rumpelstiltskin, we went in pursuit of a name that would win us back our daughter.

I’ve written before about our initial experience with a genetic diagnosis. We had crept into the geneticist’s office and secured our prize, Opitz trigonocephaly (or Opitz C), but it was like a curse with three awful conditions. First, Gabriella would be severely mentally delayed. Second, she would not live to be a year old. And third, there was a one-in-four chance that this would repeat in future pregnancies.

We set about trying to weaken the curse by defeating each of its conditions. When Gabriella turned one and then two, we claimed a first triumph. When her brother Alexander was born healthy, we gained a second, although we decided not to tempt fate with further children. These successes brought relief, but we couldn’t escape that final condition, and as time passed our daughter’s cognitive delays became more pronounced.

We accepted our fate, even though we continued to doubt the diagnosis.

When Gabriella was two, her geneticist called us, sharing reasons to question the diagnosis. We later learned that the doctor who discovered the syndrome had deferred his own conclusion when consulted. He had cited inconsistencies with the pattern, and most notably our daughter’s cataracts. In fact, no patient with Opitz C had ever had cataracts.

This lingering question created its own anxieties, and we decided to take another run at genetics. I was still angry and uncertain about our prior experience, but in August 1998, we traveled to a premier children’s hospital to see a renowned geneticist.

I remember my dilemma entering those pristine halls, as if coming before a seer with a crystal ball. While I would be happy to hear the last of Opitz C, a new syndrome would likely carry its own curse, its own conditions. We had long before concluded we would treat Gabriella’s symptoms as they arose, even though that sense of the unknown and the sudden emergence of both the cataracts and the tumor on her skull had created unending dread those first few years.

The renowned geneticist had her team conduct a thorough physical exam. They took a detailed medical history. The genetic counselors asked about our parents and grandparents, about miscarriages and disabilities in prior generations. They ordered a high-resolution chromosome analysis. And in the end, they concurred that the findings were inconsistent with Opitz trigonocephaly.

That curse was lifted. But what was it?

We returned to the realm of Rumpelstiltskin. My sigh of relief was shallow as the renowned geneticist introduced other syndromes like Walker-Warburg and Miller Dieker. These names meant nothing to us, any more than Opitz once had. They were intimidating all the same. But they soon ruled out Walker-Warburg. They recommended testing on chromosome 17, which came back normal, and as a result they eliminated Miller Dieker. Finally, they suggested sending blood samples to researchers at the Children’s Hospital of Chicago. We acquiesced.

We returned home relieved, but still fearing the unknown. The frenetic pace of those early surgeries and hospitalizations eased, bringing encouragement.

Twenty months passed. We almost forgot about the researchers in Chicago. At last, in early 2000, the report came back. Based on her blood and her DNA, Gabriella didn’t conform with any known syndrome.

Our standard answer when asked for her diagnosis became “an undiagnosed genetic syndrome”. It sounded empty, like the null set in math, as if I had reached the end of a long and absorbing novel that just stopped without resolution.

The British call this a Syndrome Without A Name. I embraced this, and its charming acronym. In one last fairy tale moment, our daughter’s ugly duckling situation had turned her into a beautiful SWAN.