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…

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.

We sat in that small room, Lisa and me on chairs, the neurosurgeons and the plastic surgeon arranged on the desk and against the wall. We swiped at the tears on our cheeks and tried to absorb the word the lead brain surgeon had spoken: sarcoma.

Meanwhile, they advised us not to give up hope. This was only the frozen section, we couldn’t be sure until we got the results of the biopsy. They said sarcoma again, using words I recognized, defect in the skull and pathology and then the giveaway, oncologist.

My fear took shape. I worried for my daughter, but no less for my wife, pregnant with our second child.

The doctors mentioned that the head of pediatric oncology at Robert Wood Johnson was a well-known figure and a wonderful man…but, alas, he was traveling. It would be his colleague instead who would come to see us. Hopefully today. In the meantime, owing to the peculiar nature of the…thing…they would send it to Children’s Hospital in Chicago once the pathologist here finished with it.

They gave us a few moments, allowed dark horror to settle about the small conference room like soot dumped through a ceiling fan. Lisa asked about chemotherapy, about radiation treatment, about other treatments, but the doctors deferred the tough questions to their colleague yet to come. The plastic surgeon explained the procedure for closing the woundslicing a horseshoe shape in our daughter’s scalp and stretching the skin to cover the defect, which I was slow to realize was the hole in her head, in both flesh and skull, where the tumor had been.

Then came the moment I dreaded even more than the anxious times to come trying to process the diagnosis. It was time to bring in the family. They crowded outside the door, white-faced with fright. Lisa’s mom refused to accept it, saying again and again, “No, not Gabriella.” My own parents were stuck in traffic.

A gurney squealed into the hallway, the one carrying our daughter. Lisa and I rushed out to meet it. I had always viewed myself as her protector, but I knew no way to shield her from this.

We called to her, fighting a deluge of tears at her swollen face, puffed round. Her head was encased in a wrap of bandages and a mesh helmet not unlike the chainmail models once worn by jousting knights. Gabriella was crying, delirious, frightened, lost, but her eyes crinkled at the sight of us. I shared her relief, as if just seeing her gave me hope.

Upstairs, in her room, we buttressed her hospital crib with our bodies. She shifted back and forth on crinkly chux paper. Our daughter brightened when we came into view, and I wondered how she could see at all following her recent cataract surgeries, the shadows moving above her bed, a rotation of anesthesiologists with a handful of needles, nurses there to take her blood pressure and her pulse and to read the beeping red digits on the monitors, and us, the familiar voices. It was almost as if she had grown accustomed to seeing without lenses. (She would have intraocular lenses implanted in a few months, but we had put off that and her strabismus surgery. The tumor was more urgent, for reasons I now understood.)

My parents arrived. They, too, were unprepared for the news. They seemed stoic in their response, but when I returned to Gabriella and came back past them to the sink, I found my mother wracked with sobs in my father’s arms.

For all we had been through, we all knew this was worse.

The oncologist arrived. At first he seemed almost bored by the details, and I became irritated. Then came an impossible twist. As a resident in a Long Island hospital, he had treated a child with the same diagnosis we had recently received, Opitz trigonocephaly. This quirk gave rise within me to an unexplained optimism.

The oncologist protected our flickering hope with a wait-and-see attitude: based on his cursory glance at the frozen section, he was unconvinced the tumor was cancerous, only unusual. He reassurances fanned our unreal expectations.

To be continued…

First of two parts.

“She has cataracts.”

Sitting in my cubicle, I heard Lisa’s staggered breath in the phone. This had been a routine doctor’s appointment, so I hadn’t taken off from work. “Excuse me?”

“Cataracts. The baby has cataracts.” I asked what that even meant. She reminded me of her grandmother. “It’s a filmy coating over the lens of the eye, only hardened.”

“Isn’t that an old person disease?” I said.

“Usually. Except in Gabriella’s case.”

Our daughter was nine months old. The ophthalmologist said they’d appeared since our last visit. I felt sick.

I asked my wife how they looked, but I knew before she answered. “It’s like a milky covering over the pupil.”

I couldn’t believe it. A month before, I’d been sitting with Gabriella at Lisa’s sister’s condo, overlooking the swimming pool and beyond, the endless sandy beach and the ocean surf. In the salt-air, I rocked my daughter back and forth and whistled, just as I had since the day of her birth. The twilight made her hazel eyes glow green, but I remembered, too, that her pupils looked almost milky. At the time, I had thought it a trick of the light.

This meant surgery, excising the cataracts over each eye and then inserting intraocular lenses to help her maintain at least some level of sight. Two surgeries, one for each eye. Each requiring general anesthesia. I feared one whiff might be too much for her, barely ten pounds yet.

The doctor called it congenital cataracts, even though they didn’t show until she hit nine months old. This turned out to be a positive; because the cataracts weren’t present at birth, we got a better prognosis than we would have otherwise.

There was one other silver lining: no child with Opitz trigonocephaly, the diagnosis we’d recently received from the geneticist, had ever had cataracts. This increased our hope that the diagnosis, with its three-pronged prophecy of doom, was wrong.

“He wants to do the first one soon. Next month if possible.”

“And then the strabismus surgery second?”

“Then the second cataract surgery. One eye at a time. Then he’ll do the strabismus after that.”

Strabismus is the contracture of the eye muscles that results in the crossing of the eyes. I had noticed in that first year that it wasn’t uncommon in children with disabilities. I think I wanted it corrected quickly because crossed eyes were the only sign that my daughter had mental delays. But we couldn’t hide those delays forever, if she even had them. Maybe I just didn’t want it to be obvious until I’d learned to accept it.

Then she hit me with the consequence I hadn’t grasped yet. “She’s going to be legally blind.” I didn’t understand why. “They have to take the whole lens out. They can replace them, but her sight will be limited, and even that won’t happen for a couple years. She’ll have to wear big thick glasses or contacts in the meantime.”

So four surgeries then.

This wouldn’t be the first time that Lisa had to reinforce a diagnosis and the resulting treatment. It was still all new to both of us, but she had the medical background so she took on the role of translator.

A few months earlier, after receiving the diagnosis from the geneticist, I had realized my daughter would never be able to read anything I wrote. Now I feared she wouldn’t even see the words on the page. Why this was worse, I can’t say, but it felt like salt in the wound.

The ophthalmologist was one of our favorite doctors, with an excellent reputation and bedside manner. We were relieved that he that would perform the surgeries, but we both dwelled on the prospect of anesthesia.

We arrived at the hospital at seven a.m. Gabriella had been unable to drink since midnight, so I distracted her with rocking and whistling and with her hanging toys as we got her ready to go. It was an ambulatory procedure, allowing us to bring her home the same day. That didn’t seem so bad.

The nurse brought a Versed cocktail, which Gabriella welcomed as something liquid until she realized it wasn’t milk. She gagged, but eventually it went down. Within minutes, her head lolled.

Lisa and I decamped in a waiting area. We were alone there.

We tried to distract ourselves, books and magazines and calls to family. Eating provided no solace, but it killed time.

Three weeks later, we sat in the same seats, with the same transient nurses and volunteers. Just as he had the last time, the anesthesiologist comes in first, after about an hour, in green scrubs and a mask pulled back over his head. “She took the anesthesia well,” he told us.

The ophthalmologist came in after a half-hour. Again he was smiling, the procedure having gone as smoothly as the first one. Again we were relieved, although we had another nagging fear, that like before her pupil would smear and spread like an egg in a frying pan. I felt shallow worrying about that – at least they got the cataract out – but with everything going against her, was it too much to want her eyes to come out unblemished?

This time, when we reached Gabriella with a white patch over her eye, we found that the pupil remained intact, an unbroken black yolk behind her expanding smile. It’s the little things.

To be continued…

Right around Gabriella’s first birthday, Lisa got pregnant for the second time.

We really wanted this, sure it would benefit all three of us, but the sight of that blue plus-sign on the home pregnancy test was frightening.

One day soon after, Lisa called the geneticist’s office and spoke with a genetic counselor that we had gotten to know. When she shared our good news, she heard a gasp. “I’m so sorry to hear that,” the counselor said.

Last week I wrote about our earlier trip to the geneticist, about the diagnosis and the three-part prophecy that accompanied Opitz trigonocephaly, like three curses in a fairy tale. Now we were approaching the end of the first year, staring down the threshold for Opitz babies. Suddenly we encountered a second curse, the one-in-four chance that any future child would be stricken with the same condition. When the geneticist had first explained this, I stammered that we wanted other children. What were we supposed to do? “Most parents we see in this situation just decide not to have any more children,” the geneticist said. “Or they adopt.”

We had been undeterred.

But with all we’d gone through already and the many challenges that lay ahead, the prospect was daunting. And while we remained skeptical about the Opitz diagnosis itself, we did believe Gabriella had a genetic syndrome. Remembering my high school science class, examining classmates for attached earlobes and curled tongues, I suspected that whatever they called it, her condition could yet recur in this next child.

Because of our situation, they had us in for genetic counseling, at which time they encouraged us to undergo a chorionic villus sampling. CVS consisted of removing a tissue sample from the fetus with a needle. The test would tell us whether this second child had Opitz, but Lisa discovered that its very application could cause birth defects. We declined.

At the same time, we thought back to Gabriella’s birth, to the discovery that she was different from other kids. We couldn’t face another surprise.

Then came another scare. Around the same time, we had an alpha fetoprotein test, and this came out abnormal. This meant our second child now had a higher chance of Down’s syndrome.

What were we to do now? Take the CVS and risk further harm, or risk another birth-date filled with awful surprises?

We learned about an alternative test, a more sophisticated form of ultrasound able to tell whether the baby in utero had Down’s, among other abnormalities. It could also show the presence of contractures. Often based on the length of the tendon, contractures reflect a tightness in the joint, limiting the degree to which she can bend her wrists, her knees, her ankles, and many other joints. Gabriella’s contractures were related to her arthrogryposis, another manifestation of her syndrome. No contractures would mean this little one didn’t have the same syndrome.

We got excited. They’d do the Level II Ultrasound at twenty weeks. While not definitive, this test could relieve a lot of anxiety. Worst case scenario: we’d have time to get used to the idea of another baby with multiple disabilities.

We returned at the appointed time to the geneticist’s office, which at this point was not one of my favorite places. The genetic counselor stopped us outside and asked, “Will it make a difference, the ultrasound?”

“It’ll make a big difference to us,” Lisa said. She made it clear that we would have the baby regardless.

Soon the technician squirted gel onto Lisa’s belly and wound the sensors in circles. I watched the monitor and clutched her hand. The technician pointed out the head, the arms, the legs. Soon we discovered we were having a boy, but still we held our breath.

“He’s quite active,” the radiologist said. “He’s flipped over just since we started.”

Then the geneticist entered, arms crossed. We awaited the ultimate verdict.

As a medical professional, Lisa more easily recognized the image floating on the screen, and I looked to her. Both of us watched the geneticist with a sense of panic. “See that?” the radiologist said. “That’s the baby’s hand.”

Then the geneticist spoke. “Just that alone. It couldn’t do that if it had Opitz.”

With a surge of joy, I peered at the ghostly hand on the screen, and then I saw the miracle at the end of the geneticist’s pointing finger. Our son was giving us the thumbs-up.