Framed by a thin, yellowing, white border, I am six years old, sitting on the poured concrete steps of the house in which I grew up. My brothers are seven and ten. It is summer, given the shorts and t-shirts we are all wearing—a brief moment of warmth in the nine-month winter that is Upstate New York. My father may have just trotted back to those hard steps, setting the shutter to release just as he leaves the camera’s side, only to return to reset it again and again, as we all moan and roll our eyes, desperate to return to our games of hide-and-seek and wiffle ball.
My father’s pants are loud and distracting, black and white diagonal zig-zags leap out menacingly. He holds the butt of a cigar casually between his finger and thumb, emanating a sort of all-knowing power through his pose. But he could not know then. My mother appears happy and relaxed. Her smile is both accommodating and comforting. My brothers squint in the sunlight. My hands are lightly clasped in my lap, a perky smile stretched across my face.
But we are all ignorant—or in denial--to the sadness that lay underneath, the struggles yet to come—the earliest unraveling of the tapestry of the perfect middle class family in suburbia in the seventies and of the specter of a rare, cruel gene lurking beneath our smiles.
A silent civil war ripped through my family that year, as my mother struggled to keep her only middle child alive, to nurse him back to health, and to hold together a fragile family unit.
In two years my brother, a feisty, blond-haired, brown-eyed boy would fall ill, a year of his life erased. A diehard Luis Tiant fan—the “Big Red Machine”, left-handed pitcher behind the 1975 win over the Cincinnati Reds that would forever be known (by some) as the greatest game of all time. He would get the flu. My mother would give him aspirin—a lethal drug in the face of influenza, something we did not know forty years ago. He would get sicker still, his liver failing, causing his brain to swell and paralysis of his left side. He would get double vision. He would forget—or refuse--to speak or swallow and require intravenous medicines to keep him alive. The doctors, then, were at a loss for the reason. They did not know such a thing as Reyes Syndrome and the toxicity of aspirin when given to children.
Eventually, my mother took him home from the hospital, against medical advice. My brother’s doctors insisted he should be well by now and that any residual symptoms were all made up in his head. She took him home to die or get better. She did not know which. A silent civil war ripped through my family that year, as my mother struggled to keep her only middle child alive, to nurse him back to health, and to hold together a fragile family unit.
My mother became my brother’s physical, occupational, and speech therapist, refusing to accept his current losses as his future. She dutifully ferried him back and forth to a psychiatrist while also teaching him to walk, talk, and swallow again.
I tagged along on one of his appointments--a home-based office in a brown, split level on the top of a hill a few towns over. Walking alongside his tall, wasted boy body, one arm wrapped around his core, the other firmly gripping the long, thin arm that encircled her head, my mother carried her now ten year-old boy, nearly equal in height now, body wasted from a half-year’s worth of illness and hospitalization, a Parkinsonian-like gait, as he shuffled to support gangly limbs that had grown in spite of bedridden stasis and malnourishment. She would stoop to lift and cradle his knees in her arms and swing them around, gently stuffing them into the back seat, shifting his head into an upright position, patting it all gently, before closing the car door--not unlike primping the edges of an unwieldy bow, weakly tying together a simple package.
A faulty gene inherited from both my husband and me—the cosmic collision of love and two one-in-a million chances creating a horrific disease.
The shades and curtains in our house were drawn low and tight, as the light hurt my brother’s eyes and made his vision worse. I sat on the hard brick edge of our fireplace and watched my brother stretched out motionless—emotionless—on the couch—his wasted limbs stretching from end to end underneath a stippled, cotton blanket. My mother would concoct potions of high-calorie milkshakes and, together with my father, force open my brother’s mouth, gently massaging his throat, in an effort to coerce the liquid down into his esophagus. He would fight, striking out with his one good arm, sometimes batting the container of gloppy liquid across the room.
I don’t remember how they ultimately got him to eat. I’m sure it was a moment fraught with triumph and tears. I don’t remember when we finally got to open up the shades and curtains in our house. At some point his bed was moved from our first first floor dining room back to his second floor bedroom. He became strong enough to walk upstairs with the help of my parents.
In three more years the CDC would issue a warning about the risks of giving aspirin to children with viral illnesses—a statement that would offer no comfort to my mother, who blamed herself for years to come. My brother would be among the two-thirds fortunate enough to survive and leave behind all traces of his illness. Now a successful attorney, athlete and doting father, he does not speak about his ninth and tenth years, lost to illness and recovery.
* * *
It is not lost on me that my own life echoes profound similarities to my mother’s. In my daughter’s ninth year we would learn that she had a genetic, fatal and extremely rare disease with no treatment or cure. Misdiagnosed for six years, we hung hope on steroids and immunotherapy treatments that seemed to stabilize her symptoms and give her back some lost strength, but it eventually became more like a bandaid placed on an exsanguinating wound. A faulty gene inherited from both my husband and me—the cosmic collision of love and two one-in-a million chances creating a horrific disease. Much like ALS, we would learn that my daughter’s CMT4J (Charcot Marie Tooth type 4J) had the potential to progress to paralysis, quadriplegia and death due to respiratory failure.
My husband and I drift in and out of parental and caregiver roles like a shapeshifter quietly slipping its skin.
Like most rare disease parents we were told there was nothing to do. Like my mother, I viewed “nothing” as an impossible directive. Like any parent, praying to an unknown god for a midnight fever to abate, or faced with the hopelessness of a presumably untreatable, progressive disease, I would call upon hope, prayer, anger--profound sadness and self-neglect—to get me through.
And I would call upon science.
A clinical trial awaits, but Talia’s disease does not. As we wade our way through the bureaucracy and bottleneck of gene therapy manufacturing, trial design and FDA approval, Talia’s nerves continue to waste away and die, her muscles giving in to the loss of myelin and the microscopic build-up of lysosomal waste accumulating in her cells. She is now in a wheelchair. She has lost the use of her arms. She struggles to breathe. I know that, unlike my mother’s crusade for my brother, we cannot restore her body to its pre-disease onset state. But we can save her life and others with her disease. We can prevent a life of horrific hardship and disability for others when treated early on in its course. If we can get a drug made in time. And give it to those that need it the most.
Keeping a family whole through loss and heartache and the roller coaster that is Hope is a daunting task. My husband and I drift in and out of parental and caregiver roles like a snake quietly slipping its skin. Talia needs help with every aspect of her life now, from eating and drinking, to getting dressed, bathing and going to the bathroom. She cannot turn or roll over in bed. Sleep is sometimes elusive. Our older daughter is finding her way in the world, meeting and rising above the grief with super power-like grace.
We cling and push away from each other, in and out of days, and weeks, and months. The years have become a blur of loss and endless acceptance of each new normal. We hit the “reset” button over and over again. We each hold onto our own version of Hope. We hold onto each other.