Genetic Destiny

Stone Coast Review, Fall 2016

In the pre-dawn hours there is a rhythm to the sounds of the neighborhood.  A train squeals into the darkness while the street sweeper rustles along, nudging the salt and sand into the curbs.  Even when it’s ten below, I keep the window cracked just a hint, the cold air condensing immediately on the windowpane.  Sometimes the crackle of a car can sound like an animal scratching at the door, and at other times the voices of neighbors sound like a baby’s cry.  I move between hyper-alert and drowsily listening, and this has gone on for several years now.

I make an effort to embrace this time spent semi-alone, to think and rest even if I’m not sleeping.  We tried sleep training Zev, but he still rarely makes it through the night, and the late, prolonged crying strikes me too deep to keep at it.  So every night one of us is on duty, lugging ourselves out of bed and into the playroom, where we lie with him on an old futon mattress.  On a good night he only tries to engage me for a few minutes and then falls back to sleep, after which I lie for hours, grateful for the quiet but unable to quiet my thoughts.  After so much practice, I have a bunch of strategies, some of which border on the absurd.  Counting does nothing, nor do breathing exercises.  I think about what I’ll be teaching the next day, or I practice barely-remembered Hebrew in my head.  More often than not, I come up with brilliant lines of poetry that I never write down, and in the morning they have vanished or else they pale in comparison to the sunrise.  

It didn’t take me long to recognize that there is little worthy poetry in my son’s condition.  The metaphors of illness have been covered pretty thoroughly, and the valiance of fighting, even succumbing to nature’s aberrations is already well-canonized.  Sure, poetry can be raw, relentless, visceral, even offensive. But it’s the beauty and decisive order of the language that propels it, even when it seems arbitrary.  Without a working sequence, words fail us.  The figurative just doesn’t lend itself so well to the shock of an awkward gait, mumblings and yellings, misread cues.  And mental retardation, no matter how it is euphemized, just doesn’t scan well.  If I sound flippant, it’s because I’m afraid I have no right to use these words, just as I have no understanding of the right way to behave, to react, or to impart my experience with this life I’ve been given.  It is some kind of gift, no doubt, but hardly the one I registered for.  Whether inherited or just genetic roulette, I can’t stop wondering how all the genes in the body account for each of our varied souls.

My brothers belong to a people with a shared genetic history, and I share their genes.  But my composition doesn’t seem to hum with the rhythm of a deity, and theirs does.   When we were children, the Judaism I lived with was fraught with ambiguity as my family tried to find a place in between fundamentalism and the secular world we occupied.  The close of the Sabbath, though, week in and week out, made itself comfortable in my soul.  David and Eric would retreat to separate rooms with prayer books in hand while I waited eagerly for them to finish the evening prayers.  Sometimes I’d peek in impatiently to find them swaying and muttering and wondered how other people would see them, lean, dark-haired boys from another world.  From the cupboard I took the clove box, a small silver container with an ornamental windmill, one blade bent inexplicably.  A glass of wine was poured, the braided candle set out, and if the skies were clear enough I ran outside to count the stars.  Three visible stars signified the ending of Sabbath, bittersweet, a return to the ordinary work week. 

My oldest brother would usually do the honors, reciting quickly.  For some reason his voice was raspy, but the words were clear.  As the youngest child I was asked to hold the lit candle as high as possible while the prayers were sung.  “As tall as your husband will be,” was encouraged, which even by the late 70’s smacked of sexism and old country nonsense, but it touches me to think of it.  It brimmed with magic and uncertainty; I wound up marrying a man who is six feet five inches tall.  The candle was snuffed by dipping it into a small puddle of wine, and another beloved custom was to dip our pinkies into the spill and touch them to the corners of our eyes.  This promised that the week ahead would be filled with a sweet perspective.  

Some of my happiest memories come from the music and from the lilt of the Hebrew language, along with the comfort of repetition and familiarity.  In the car not long ago, my daughter sang along with a tape of Israeli music to an old, very well-known prayer, and I nearly drove off the road with unexpected weeping.  I’ve questioned, I’ve rebelled, and I’ve never fully committed to Judaism the way my brothers have, but it is still deeply a part of my psyche.   My siblings believe with a surety that is enviable.  At around seventeen or so I had a conversation with Eric about why I couldn’t share his certainty about God or believe in peoplehood at all.  We were in his childhood bedroom; he sat in his trademark rocking chair with the thin, brown fabric covering.  I started crying because I couldn’t explain myself, but I just knew I could never experience the same fervor.  He is somehow wired to hear God knocking around in his soul while I can’t make out the sound.

 I grew up with the anxiety that I’d never find a suitable Jewish partner, and this, coupled with a near-obsessive need for companionship, led to some difficult and overwrought relationships.  When I finally met my husband at the end of college, he was an easy-going, naturally resilient and vibrant person who, as luck would have it, was also Jewish.  What I didn’t know was that his resilience at the time had never been tested, but it has since proved remarkable.  Because of his dark coloring, he has been mistaken for a Latino, a Spaniard, an Arab, and a Native American.  In his longer-haired days, a man once called to him across Monument Square: “Hey, what tribe are you from?”

“Um,” my husband hesitated.  “The tribe of Israel?”

It was somehow a relief to marry into the tribe.  My husband’s paternal great-grandparents were from Latvia, as was my mom’s mother, so a genetic connection was a remote possibility.  But their paths diverged so starkly, and the timing was so different, that any shared ancestry is extremely unlikely. There is, however, a theory called the “Founder Effect,” suggesting that most of today’s Ashkenazic Jews descended from a group of only several thousand Jews who lived in Eastern Europe five hundred years ago.  So we had the requisite genetic testing for diseases common to Ashkenazic Jews, and we came up clean. At 29, we decided to try to start a family, clearly unprepared for the saga of soap opera proportions that was about to unfold.  

Five years later, after endless fertility treatments, two miscarriages, a shattering preterm delivery that ended in stillbirth, and the near-submission of a dossier for international adoption, our daughter Anya was conceived naturally and born healthy.  When people meet her alone with me, they remark on our similarities.  When my husband is alone with her, they claim she looks just like him.  She is a mix of our temperaments and strengths, plus many other singular qualities, as complex and gorgeous and typical as any spirited five year old could be.  I cried with the most fervent happiness on the day she was born.  Then the real raising of a child began, and the doubts crept in.  How, exactly, would I manage to screw her up?  It brings to mind a poem by Philip Larkin, which I could read a thousand times and never tire of. “This Be the Verse” explains that parents inevitably pass along flaws which mess up their kids.  This happens without any ill intention whatsoever, and the parents themselves were equally besieged with “faults” from their own progenitors.  The poem uses an expletive to describe the level of chaos that this pattern of inheritance bestows, and it’s that profanity which carries the sheer, laughable truth of this poem to my core.  The last stanza is tongue-in-cheek, but the message has resonance: “Man hands on misery to man/ It deepens like a coastal shelf./ Get out as early as you can,/ and don’t have any kids yourself.” 

After Anya was born our nights were especially long and sleepless, and for the first two years we were chronically exhausted; she was so alert and high strung that she rarely slept more than a few hours in a row.  I was depressed and anxious a lot of the time while still joyfully noting my precocious daughter’s milestones.   Pictures from my own first few years were the image of her.  The next pregnancy came sooner than anticipated and oddly my hair went from fine and poker straight to thick and curIy.  We had extra 3-D ultrasounds to check for abnormalities and everything progressed normally.  Even the delivery was uneventful, except that I was hyperventilating and they couldn’t find a vein until it was too late for an epidural.  Only a few hours of that searing pain and our little boy was born.  We chose the Hebrew name Zev because I liked the simplicity, three letters that seem to have a power, some kind of emphasis.  It happens to be the Hebrew word for “wolf,” but if anything he is more like a newborn fawn, all soft angles and timid.  

I noticed his differences immediately, slight flaws that the doctors dismissed, and I was numb when they placed him into my arms.  He wouldn’t latch on for milk, hardly opened his eyes, one ear was curled over, and he was tiny and frail, so unlike our first, robust girl.   Before he could suckle we fed him my pumped milk through a dropper fit for a tiny bird.  It took several weeks of pumping and bottle feeding to teach him to nurse, but more obvious with each passing month were the missed milestones and his failure to thrive, that ominous phrase used in the medical field.  Panicked, I sought out a holistic osteopath who, for our purposes, turned out to be a total crackpot.  Every Tuesday for about a month I drove half an hour to her office, and we listened to the wind chimes and the sound of spring birds chirping while she held my son, gazed at him, and appeared to do nothing.  At over four months old, he finally learned to smile, and I had a passing hope that he was just a late bloomer, as his pediatrician was suggesting.  

When Zev was ten months, he developed a strange cough and his breathing grew shallow.  We huddled next to the wood stove while he shivered.  In North Yarmouth, Maine, the winter was fierce and the trees heavy with falling snow. I figured I  could drive him to the hospital myself, and I buckled him into his bucket car seat, his sister’s old pink blanket wrapped around his shoulders.  The car basically oozed along the unplowed street for about half a mile until I swerved slightly and gave up.  When the ambulance arrived, the EMT’s were reassuring and Zev was surprisingly calm and compliant.  We chatted about the community, Zev held tight to a red, white and blue stuffed elephant they’d given him, and the sturdy vehicle plodded on to Maine Medical Center with no trouble.

The doctors diagnosed  RSV, a respiratory virus that requires extra oxygen. We’d submitted his blood for genetic testing the month before and, coincidentally, the results came in after we’d been stuck in the quarantined section of the children’s wing at Maine Med for four days.  Through a test called a microarray, which was unavailable even ten years ago, it was discovered that he has a rare chromosomal disorder involving the long arm of two chromosomes.  Simply put, he is missing about 90 genes from the tenth chromosome and has about 45 extra genes on the 12th chromosome.  They call it an unbalanced translocation, and there is no identified syndrome associated with this particular swap.  With 46 chromosomes and about 20,000 genes, the possibilities of error are infinite.  

Some geneticists, I’ve learned since, aren’t always the most tactful.  I was unprepared for the news and already exhausted from our hospital stay, and she sat before us coldly diagramming chromosomes and listing the probable manifestations of Zev’s chromosomal snafu.  Zev was in the room sleeping, an oxygen mask taped to his face, the vital-sign monitors beeping sporadically.   At first the doctor’s explanations were technical, and she kept using the word terminal, which stopped my heart.  It turns out that terminal, in this case, refers to the end of the chromosomal arm, which in Zev’s case is where the missing material is, well, missing.  She handed us pamphlets about kids with 10q deletion, as it is known.  Zev is mentally retarded, the doctor told us, and I sobbed.  “You knew something was wrong, didn’t you?”  She responded.  

For a few months I felt nauseous and hopeless, even though Zev recovered from that illness and continued to progress very slowly.  I finally got up the courage to read through the literature, and I pored over the web site for UNIQUE, the rare chromosomal disorder network. Now our lives had a new vernacular: microcephaly, hypotonia, short stature, failure to thrive, sacral dimple, gastrostomy, rhythmic movement disorder, sensory integration gone haywire, strabismus, moderate to severe learning difficulties.  And I had joined a club of parents, 10,000 strong, who have been told their children might never grow up. 

Parents of special needs children are sometimes introduced early on to a now-famous personal essay called “Welcome to Holland.”  It cleverly analogizes the pain and grief of discovering that our expected experience of parenthood was derailed by a voyage to this new world of disabilities;  metaphorically, our trip to Italy was rerouted and we found ourselves in the equally magical but different country of Holland.  Our children might not be the Trevi fountain, but we would still be thrilled by the tulips and windmills we encounter.  It’s lovely and poignant.  But it’s not enough, not at first.  At first, the helplessness, the resentment of others, with their big-headed, normal babies, takes hold, and platitudes don’t ease the pain.  The diagnosis notwithstanding, the first two years for us were a barrage of visits with specialists, daily therapy appointments, surgery to correct crossed eyes, ear tube surgery. The worry was endless, the nights sleepless still, and my rage at God and the universe was sickening. 

When Zev began to refuse all food, not long after his first birthday, we hoped it was a passing phase.  It wasn’t exactly like a switch had been turned off, but one day he wouldn’t drink anything from a bottle, and he resisted the spoonfuls of mush he would usually tolerate.   The summer was approaching and it was finally warm; the quince tree that borders our property was attracting hummingbirds.  I pointed them out to Zev, who turned obligingly to look.  Still unable to sit independently, he was propped up next to me against several rolled towels.  We watched as a bird hovered and suckled, and I tried to sneak a bottle into Zev’s mouth, hoping a few drops of milk would find his throat.  He shook me off repeatedly.

As the weeks wore on, we consulted every doctor we could find, and no one had any answers.  On a family trip to Colorado I began to unravel, realizing the extent of Zev’s failure to thrive.  Zach and I thrice-daily prepared a horrible concoction of baby food and olive oil, hoping to shovel as many calories into him as possible as his weight continued to drop.  We gathered on the grass, my husband held Zev on his lap firmly, and I opened my son’s mouth and forced the food in while he cried and gagged.  Our extended family retreated inside the condos; oil and pureed carrots spewed onto the lawn, my shirt, Zev’s entire body, Zach’s arms.  The mountains flanking us stood silent and unencouraging. 

A g-tube was our only option after several months of this force-feeding nightmare.  After the surgery, Zev was hooked up to a tube and the formula was pumped through a machine and directly into his stomach.  There was an IV pole from which we hung the bag of liquid nutrition.  My daughter, then four, made a toy of the pole, pretending it was a camera or a robot.  Zev crawled behind and nudged it around the room like a push toy, baffled when it wouldn’t move up the steps or through the walls.  If he wasn’t sitting in his high chair, but it was meal time, we put the machine into a tiny backpack that fits snugly on his minuscule frame.  This allows him to move around freely, the food inching silently through the device.  After the original incision healed, I brought him back to the surgeon to have the long tube removed and a small, flatter button placed instead.  I almost fainted when the doctor plucked the tube out, revealing a small, bloody hole in his stomach.  “Okay, now just pop the new device in there,” she said cheerfully.  

“You want me to do it?” I was shaking.

“You need to know how in case it falls out,” she replied, flatly, with a little impatience.  Zev had already started yelling and flailing around, more out of nervousness than pain, probably.  I pressed the button into the hole and cringed as some fluid seeped out.  I guess it’s true that we can get used to anything.

During this period, I  was inundated with a litany of well-meaning messages from friends and family.  They ranged from “everything happens for a reason,” to “I don’t know how you do it, you must be so strong.”  I learned that the best help was simply an acknowledgment of our struggles.   The diagnosis was in some ways more burdensome: now that we knew how much genetic material was missing, my hopes for Zev’s future felt even more diminished.  I read and re-read the stories of other children with 10q deletion and grasped at every milestone listed.  They all have variations in their missing genes, and none have the additional duplication on another gene.  Still, it was all I had, and I read obsessively, sometimes into the middle of the night.  Some kids didn’t walk until 4, but they did learn to walk!  Some didn’t speak until 5, but they eventually learned to speak!  Behavioral and learning difficulties are common, as are seizures.  Growth is severely delayed and in some cases children barely reach 4 feet in adulthood.  But one child spoke early and now reads above grade level in eighth grade.  I hung onto every positive shred, but in the back of my mind I worried that the large size of Zev’s deletion was predictive of a worse outcome.

Part of the burden was a sense that I am somehow responsible for Zev’s condition, that it was my faulty encoding that led to his difficulties.  He works so hard to accomplish the simplest of tasks, and sometimes it is agony to watch his slow, slow progress.  We don’t know what caused his abnormalities, and for now we choose not to know.  It may have happened spontaneously, a kink in the reproductive cycle of his cells very early on, or else it was inherited from either me or my husband.  My thoughts, at the darkest times, bordered on irrationality: I am fundamentally flawed, which is why my son was born so atypical.  

The online community became a lifeline for me, if not an obsession.  There is a Facebook group set up by the Unique organization, and a subgroup for 10q parents, and for awhile I read these with an unhealthy urgency.  Post after post detailed issues foreign to a typical parent.  Husbands and wives blamed each other, passed the buck, separated, even divorced.  Children moved in and out of hospitals, shuttled between specialists, survived surgeries.  Strangers in stores averted their eyes while our kids screamed unintelligibly, drooled, or lay down in the aisles refusing to budge.  The posts were hilarious at times, desperate at others, and they flooded my account from all over the world.  I posted and responded almost daily, grateful for the camaraderie.  Because so many of the members of Unique live in the UK, where the organization originated, I could find companionship even in the middle of the night, when Zev wouldn’t sleep.  It helped with the isolation, and it gave me a place to put my nervous energy, thumb scrolling through the photos, comparing notes with others in the same boat.

 However, when the medical crises slowed, it was easier to think clearly, and I quit Facebook.  The friends with typical children paraded them across the platform, and I sunk into self-pity because my son couldn’t speak, kick the ball, dance, or even enjoy an ice cream cone.  The new friends I never met, those who have children with special needs, continued to celebrate the small steps and lament the complications, but I just got weary of looking for my son in their children.  Tragically, several times I saw a post about the death of a child, and I clutched my son with the resolve to be grateful for his presence.   If I am wired for anything as a human being, I am susceptible to comparisons.  It had become a game to look at all the children with some version of his deleted material and desperately hope he would develop similarly before plateauing god knows when.  Of all the specialists we’ve consulted, none have ever met a child with Zev’s specific genetic disorder; in fact, no one like him has ever been studied.  To try to write his genetic destiny is too daunting.  My husband, stricken with the need for action in the face of helplessness, briefly considered getting a tattoo after learning of  the diagnosis.  Nothing is written, a line from Lawrence of Arabia, seemed a fitting tribute to our son.

Sleep continues to elude Zev, his immune system is not strong, and he remains the size of a one year old at age three.  But there is no more endearing child than he.  His default mode, built into his entire being, is affection.  The first thing he does upon meeting most strangers, and all friends, is reach his arms out for a hug,and his embrace is warm and gentle. A friend joked about starting a business offering his services as a therapeutic hugger.  His giggle is absolutely infectious, and his enormous brown eyes watch his surroundings with interest and engagement.  Even very early on, when he was unable to move easily and we feared he might never even learn to sit up, his eyes seemed strangely wise and observant.   His personality, too, is so much more vibrant now than it was for the first year or two, when he was shockingly passive.  Now he plays and flirts, makes demands, shows empathy, and, overall, makes his presence known.

At age two Zev finally learned his first sign, and over the past year his communication has opened up tremendously.  When I start to compare him to the leaps and bounds his peers are making, I have to remember that a year ago we had absolutely no affirmation that he understood expressive communication in any form.  He has about fifty signs now, and often he creates his own signs in order to get his point across.  He pats the ground to ask me to sit with him, he makes pushing motions to ask for more swinging.  One of the first indications of his understanding of language involved his desire to hear music.  The sign for music, a swift brush of a side-turned palm back and forth in the air, was one of his earliest, and one afternoon he was making this sign repeatedly.  “Do you want me to sing?” I asked.  He shook his head no.  “Do you want Dad to sing?”  Again, no.  “Who do you want to sing?”  And he made the sign for house.  It took a minute for us to realize that he was asking for the stereo, which has speakers built into the ceiling.  For him, the house is singing when we play music through the stereo.   

Thrillingly, Zev loves books.  Although many 10q kids have short attention spans, he will flip through the pages for a solid length of time, touching the different pictures and words.  At first my pessimism attributed this to some manifestation of OCD, probably because this is one of the dozens of traits listed in the “what to expect” section of any study of kids with chromosomal abnormalities.  But I’ve been stunned to find that he actually loves to hear the stories read repeatedly, and he tries to “read” them back to us with as many words and signs as he can muster.  My favorite moments with him lately find us snuggled in bed with his books, his tiny, soft hand on mine, and his plaintive voice asking “REE,” which is only a recently articulated word for him.   We read Go Dog Go, or Mr Brown Can Moo and he points to the words and sometimes actually reads them!  Obviously it’s just memorization, but the fact that he has some early literacy awareness is miles away from what I ever dreamed for him.  He also recognizes his own name in print, as well as the letter “O”.  Just 25 letters of the alphabet to go.  

It’s a challenge for us to move at this very slow pace, our child developing so minutely, and the gap between him and his peers just yawns wider with each passing year.  Zev is a happy little boy, and he is not suffering now that his health is good.  It’s also not likely that I have “handed on misery” to him, because existential concerns will probably not consume him.  In very many ways I create my own suffering by thinking of what could have been, by cursing those machinations that deleted those many genes, by cringing when I think of what I had expected.  And to think it is my own genetic makeup that might be fueling those obsessive thoughts.  I heard an interesting argument recently on NPR about human nature, and our impulse to categorize, to both include and exclude our fellow man.  The idea was that we are born as individuals who are always-already hybrids, because we are naturally a mix of two individualized genetic sequences.  If this is the case, why, then, do we insist on categorizing ourselves into races, ethnicities, nationalities, religions, instead of accepting the natural hybridity that is the essence of being human?  And why, then, is disability still so foreign to us?

My father says the five stages of grief are total bunk.   Kubler-Ross came up with them in an effort to universalize our experience, much the same way that Freud pigeon-holed us with his psychosexualized staging.  All phallacy, accord to my dad the behaviorist.  Somehow he knows grief; he cries easily, maybe from a well of unexplored memory, maybe from a sheer sensitivity to life itself?  When we lost the first baby he and my mother flew the next day to comfort us.  I dissolved the moment they walked into the house, and through my hysteria I saw the tears dripping from his nose.  Either way, the stages have built themselves into life with our son, tripping over each other, overlapping, and while they aren’t useful or consistent, I don’t resent them for their transience.  Even acceptance floods over me occasionally.

But I haven’t yet accepted Zev’s fate.  I do know he will have limitations, and I fear for the long future ahead.  In my most shameful moments I feel sick that he will not grow up, at least not in the sense we are all accustomed to.   During the long nights, when he tosses and can’t sleep alone and makes strange, rhythmic movements which thank God turned out not to be seizures, I often lie blinking and dreading the next twenty years.  But in the bright morning, I hear “Mama,” and he presses his cool cheek against mine, eyelashes fluttering on my skin like hummingbirds’ wings.