The handful of children born with the devastating disorder known as Batten disease have a life expectancy of only eight to twelve years. Sammie just turned eight.
Sammie stares out the window, where the sun is just starting to replace the rain. Around her neck: a raspberry, pig-shaped pillow. She groans faintly as her mother places a tissue between her teeth to prevent a bitten lip, then covers her nose and mouth with a clear mask that has jagged pink projections — dinosaur spikes, simultaneously innocent and stern. Her feet are pointed, toes curled. A symptom of immobility, her mother calls them “ballerina feet.” Sammie’s arms twitch slightly as a small compressor starts up, emitting a sound like a muffled lawnmower.
The dino mask administers Pulmicort, a steroid that helps loosen mucus, which accumulates due to Sammie’s lack of motion. The twice-a-day treatment raises her oxygen levels in order to facilitate breathing and minimize the chance of pneumonia.
Sammie’s eight-year-old body is regressing due to a condition known as Spielmeyer-Vogt-Sjögren-Batten disease, commonly referred to as Batten disease, which occurs in an estimated two to four of every 100,000 live births in the United States.
When I first meet Sammie at her suburban home in Haskell, New Jersey, she is asleep on the living room couch, unaware of the ill-timed rainfall — gloomy weather for Independence Day. Her mother, Kamila Wojcicka, a thirty-one-year-old bookkeeper with curly blond hair and eyes like two swimming pools, is preparing for Sammie’s daily ritual while her fiancé, Matt DePeri, works in the yard. Matt, a thirty-year-old accountant, has been with Kamila for more than four years.
A vast collage of snapshots depicting Sammie at various ages hangs above the couch. Sammie was born on February 1, 2007. Healthy and radiant, blond and blue-eyed, at first she developed as expected, learning to crawl, walk, talk and play. An energetic kid — she cruised around in her miniature VW Beatle, splashed in the pool and pleasantly devoured her most favored food, chicken nuggets – though according to Kamila, “she ate everything you gave her.”
The first sign of illness, sudden and harsh, arrived on Easter, five years ago. Sammie wore her Sunday best, a pink and white dress. There was a family breakfast, followed by church and egg coloring. Later that night, as she drifted off to sleep watching her favorite movie, “Finding Nemo,” Sammie began to tremble and throw up, the discharge streaming from her nose. Her eyes rolled back and she turned purple, lifeless in her mother’s arms. Panicked, Kamila tried to clear Sammie’s airway, assuming that she was choking on her vomit. “Her jaw was clenched so tight,” she recalls, “that she almost bit my finger off.”
Although the seizure lasted about three minutes, for Kamila, “it felt like a lifetime.”
At the hospital, Kamila spoke to multiple doctors, recounting the episode over and over. She got the impression that they either didn’t believe her or were baffled by the events and uncertain about how to diagnose Sammie.
Electrodes were attached to Sammie’s head as part of an electroencephalogram, or EEG, a test that measures electrical brain activity. She showed no irregularities, and after two nights of observation, Sammie was sent home, the seizure chalked up to a one-time, freak occurrence.
Two weeks later, at a local Best Buy, it happened again. This time, the EEG showed a slight aberration, an atypical spike in brain activity. Sammie was diagnosed with epilepsy and issued an initial prescription, unsuccessful at reducing the biweekly seizures.
It took a demanding cycle of trial and error for Kamila to determine a functional combination of medicine to prevent Sammie’s frequent seizures. Today, with the aid of several medications, specifically, Keppra, Onfi and Depakote, the incidences have significantly tapered. Still, Kamila is always prepared. If a seizure lasts more than two minutes, depriving Sammie of oxygen, she administers rescue medication — a large gel-filled syringe to be injected rectally.
* * *
After fifteen minutes, the dinosaur mask comes off. Next, Kamila wraps a pad with two protrusions that resemble PVC pipe elbows around Sammie’s thin midsection and attaches two corrugated hoses. When she turns the machine on, Sammie begins to vibrate and shake. Although not violent or painful, it’s a jarring sight, her slender body starting to blur, the movement a stark contrast to her unconscious, placid face. The resulting sound is similar to a power drill, but their teacup Yorkie, Misiu (“Teddy Bear” in Polish) and Sammie’s nine-year-old cousin, Nikola, visiting from Poland, sit by her side on the couch, unfazed. They see the vest treatment, which pumps and pounds air into her chest, up to five times a day, depending on her mucus build-up. For Sammie, this is just another part of breathing.
Batten disease is named after British pediatrician-cum-neurologist Frederick Batten, who initially described it in 1903. It is a neuronal ceroid lipofuscinosis, or NCL, which refers to lipofuscin, a fat-like substance that accumulates in the lysosome, the cellular portion responsible for processing unwanted material. In patients with Batten disease, the recycling system of the lysosome is disrupted due to an enzyme deficiency. The resulting accretion of brain cell waste classifies Batten as a lysosomal storage disorder, alongside Tay-Sachs disease.
NCLs are subdivided by onset age into infantile, late infantile, juvenile and adult forms. Sammie is affected with classic late infantile or LINCL, associated with the mutation of the CLN2 gene and the absence of an enzyme known as TPP1. With LINCL, symptoms like loss of sight, speech, motor skills, as well as dementia and seizures, appear between two and four years of age.
It is an autosomal recessive disease, which means that both parents must each contribute a copy of the defective gene. With two carrier parents, the child has a one in four chance of developing the disease and a one in two chance of becoming a carrier.
There is no known treatment that can arrest or reverse the symptoms of Batten disease. The corresponding seizures can be mollified with anticonvulsant drugs and physical and occupational therapy may help some patients slow the decline of motor function. However, the disease is always fatal, with a life expectancy of eight to twelve years for LINCL, Sammie’s form.
It was a daycare teacher who initially spotted signs of Sammie’s receding cognition. A year after her first seizure, she was back in school, her seizures stabilized with the aid of medicine. But the instructor pulled Kamila aside one day, noting that Sammie’s participation in circle time had diminished. More alarming was her sudden inability to recall colors and shapes. Attributing the lapse to a side effect, Kamila adjusted Sammie’s medication, but to no avail. After a visit to a speech therapist proved fruitless, other symptoms began to manifest. Sammie started to trip, constantly, one foot slightly dragging. When the orthopedic specialist found nothing wrong, their neurologist recommended seeking the opinion of a medical geneticist.
Nine months of rigorous testing followed. Mitochondrial disease was the first to be eliminated from the list of suspected ailments. Sammie spent hours at Hackensack Medical Center in New Jersey, giving blood and muscle tissue and moving down the list of potential diseases, starting with the most probable. Eventually, a visiting neurologist reviewed the file and suggested that the genetic doctor check for Batten disease, a test that was still months away due to the rarity of the condition.
The doctors told Kamila not to worry, to shun Google and to enjoy her upcoming Christmas. After all, the disease was so uncommon that the chances were minuscule; the test was merely a precaution, a checkmark.
Of course, Kamila rushed to her computer. “That was a long Christmas,” she recalls, “I just kept reading about it.”
* * *
Kamila removes the vest and lifts Sammie’s Hello Kitty shirt to plug a skinny, clear tube into a circular plastic opening extruding from her stomach. I notice her daughter’s name inscribed in cursive on the inside of her wrist. Next to the bed, an IV stand holds a transparent bag, milky liquid inside. Kamila presses a button and the tube turns white, initiating a low, intermittent whirring sound.
This is every meal for Sammie — breakfast, lunch and dinner. The lacteal liquid is PediaSure, the plastic aperture in her stomach is a gastrostomy tube or G-tube, surgically inserted two and a half years ago. She twitches, her eyes gradually opening and closing as her mom carefully wraps a leopard-print blanket around her bare feet.
The blanket, part of a collection, earned Sammie the moniker “leopard girl” at the hospital. Even her custom-made orthotics to realign her pointed feet are leopard. So is her back brace, intended to counteract the severe scoliosis from constant sitting. The rest? Hot pink. Her wheelchair, embellished with her name, is black and pink. “She has the coolest ride,” Kamila says, looking at Sammie fondly.
The process takes over an hour so we retreat to Sammie’s bedroom, leaving Nikola to watch her. The room is standard little girl territory — pink walls, ubiquitous flowers, glittering princesses. There’s a television guarded by Mickey and Minnie, a small pet bed, a cumulative family handprint. As my eyes adjust to the pink, I start to notice the anomalies in the room. There’s a suitcase-sized tank at the foot of the bed to boost Sammie’s erratic oxygen saturation, and a little camera above the pillow. Previously used to monitor Sammie’s nighttime health, it’s no longer operational due to Kamila and Matt’s new sleeping arrangements — a mattress laid out on Sammie’s floor.
A massive cluster of hair decorations hangs on the wall – sparkly barrettes, flower-topped headbands, patterned bows. There must be at least a hundred. “I can’t buy her toys so I make up on all her accessories,” Kamila says, “I try to make it cute.”
A white terrycloth bunny is tucked behind a chair, ears flopped forward. “That was her best toy,” Kamila tells me. “It came with us to hospitals, pretty much everywhere.”
On January 3, 2012, Kamila received the long-awaited phone call from the geneticist’s assistant. Clutching the phone, she left her office, a realty company, and hurried to the parking lot. “I heard it in her voice,” Kamila recalls with a deep breath. “It wasn’t good news.” The test was positive.
Frantic, Kamila ran back inside and called Sammie’s father, Luke, from whom she’d separated in 2009.
“It was like a death sentence,” Kamila says, her eyes glistening blue under dark lashes. The doctors, including the neurologist, pregnant at the time, were choked up, in disbelief. They had never worked with a Batten child before.
“I don’t even think I go back in my head to that day,” Kamila says, sitting on the edge of Sammie’s bed. “You just grab on to what you have now.”
After the diagnosis, Kamila was contacted by The Make-A-Wish Foundation, which arranged experiences for children with life-threatening medical conditions. Sammie, whose health was deteriorating at a rapid pace, was anonymously nominated. At this point, she could no longer walk without assistance and retrogressed to crawling. Her speech was also curtailed, limited to words rather than full sentences. Sammie started to refuse food, save for one exception: her favorite snack, Lay’s Sour Cream & Onion potato chips. “I’d give her the chips so she’d eat something, anything,” Kamila recalls.
Sammie’s doctors recommended an experimental clinical trial conducted by Weill Medical College at Cornell University. As part of ongoing Batten research that included other children, Sammie would receive a brain injection – a harmless virus bearing the corrected gene. Known as gene therapy, this procedure has been used in an attempt to treat a variety of genetic disorders in a research setting since 1990. The intention was to see whether the introduction would limit disease progression, a hypothesis with no guarantee for Sammie.
The surgery was not without risk. Post-operative infection, surgical hemorrhage, status epilepticus — a continuous or recurring seizure that can be fatal — and a severe reaction to the anesthesia were all possibilities. There was a chance of coma, even death. The operation and the concomitant hospital visits would place tremendous stress on Sammie’s already weakened body.
Although there was no promise of improvement, for Kamila, it was something — a prospect, a glimmer of hope. “When it comes to your child, you think, she could be one in a million,” Kamila says. She knew she had to accept the risks. “I don’t think I’d be able to live with myself if I had an opportunity and didn’t take it,” she says.
After a period of testing to ensure she qualified, Sammie was admitted into the clinical trial, the operation scheduled at New York-Presbyterian Hospital.
Prompted by the hospital staff, Kamila reached out to an Ohio family whose daughter previously had the surgery. She saw the post-op photographs and heard the recovery stories. “The reality hit — these are real people living what you are about to live,” Kamila says. Consequently, she discovered a Batten Facebook group and met parents from the world over. Through their testimonials, she prepared herself for the imminent symptoms of the disease and acquired the proper equipment. The online network of new friendships would prove to be invaluable in terms of emotional support, each family proffering encouragement and at times, sharing the grief of a lost child.
On June 19, 2012, Sammie arrived at the hospital. “She wasn’t scared,” Kamila says of her then five-year-old. Before the surgery, Sammie spoke, albeit much less, but never asked questions. To prepare for the six holes that would soon be drilled into her skull, the medical staff shaved two strips on each side of her head, braiding the top. Then, they put Sammie under anesthesia.
“I’ll never forget the waiting room,” Kamila says, “the people, the smell, the cold.” She sat there for eight crawling hours, in limbo, until the surgeon finally came out. Sammie had made it through the surgery without any complications. They followed Sammie, bandaged and groggy, to the Pediatric Intensive Care Unit. That night Kamila lay awake, listening to every beep.
After the surgery, Sammie stayed at the hospital for a week, the doctor noting her surprisingly quick and promising recovery. In the coming months, she returned for multiple check-ups, each regulated by the same trifecta of tests – MRI, spinal tap, eye exam. Sammie spent hours, both awake and sedated, at the hospital. “She was really tough,” Kamila tells me, “she didn’t complain.”
Kamila brings Sammie into the bedroom so she can monitor her breathing and clear any mucus. She places her on the bed next to a bubblegum pink throw pillow that says “Smile.” Nikola wheels in the IV stand, the bag, now half empty, swinging side to side. The sound of the pump stops and goes, whirring and pausing until it becomes part of the room, almost unnoticeable.
In September 2012, courtesy of Make-A-Wish, Sammie visited Disney’s Magic Kingdom. Although she was no longer walking and had a customized stroller, Sammie was able to go on several accessible rides. She loved the colors and music of the “It’s a Small World” boat ride.
However, nothing compared to the joy of meeting the inimitable Mickey Mouse. “She looked up and saw him,” Kamila says, beaming at the memory, “grabbed him by the nose and tried to kiss him.”
* * *
The disease progressed in stages, as Kamila learned. It started with haphazard screaming and crying fits, which continued for months. Dystonia came next, a disorder characterized by involuntary muscle contractions. Sammie would twitch and shake, twist and tense, in tears from the fatigue. Eventually, with the aid of medicine, the symptoms abated.
In the three years following the diagnosis, Sammie lost her ability to interact with the world. Completely blind for two years now, her cognitive function has eroded and she can no longer talk. “I can’t remember the last time she spoke,” Kamila says, a pink curtain shivering softly behind her, “I don’t even remember what her voice sounds like.”
As if on cue, Sammie expels a desperate sequence of wet coughs. Kamila is prepared, and in seconds, a large clear wand is inside Sammie’s mouth. There’s a loud jackhammer sound, followed by a suctioning reminiscent of a dental visit. Sammie gurgles and Kamila rubs her chest, which elicits a barely perceptible moan.
I’m told that Sammie’s cough is adequate to expel any mucus, negating the need to deep suction. Kamila brushes a strand of hair from Sammie’s face, brown with a hint of gold, a throwback to her childhood tresses.
I ask about Sammie’s signature expression. Kamila’s Facebook page is full of photographs — images of baby Sammie alongside those of ill, bedridden Sammie, united by one common element: her smile. “She was the happiest baby ever,” Kamila tells me. Even after the disease took hold, Sammie’s grins were abundant, easily generated by a noise or scream. She still smiles, ostensibly unprompted, an arbitrary gift to her family. “I don’t know what makes her smile these days,” Kamila says pensively, mourning the lost ability to amuse her daughter. She looks at Sammie, rubbing her feet – “It’s what we miss the most.”
Sammie can still hear, as confirmed by an auditory test. In response to voices, Kamila notices minor changes in her daughter’s expressions, hints of passing recognition in her eyes. Sometimes, she even plays Sammie’s beloved “Finding Nemo.” “I feel like her eyes get bigger and she’s listening,” Kamila says.
Kamila no longer watches videos from Sammie’s childhood – it’s too painful. Laughing wistfully, her tan face accented with two protracted dimples, she describes an inexorably happy toddler with an affinity for Spongebob Squarepants and inappropriate words. At two and a half, Sammie dropped an F-bomb in the middle of her daycare classroom. Having heard the phrase “What the fuck?” on television, she used it with precocious precision, stretching each word like taffy, hands flung in the air with adorable exasperation.
Today, Sammie cannot walk or even move her limbs, aside from involuntary spasms. In an attempt to recover motor function, she attends daily physical therapy sessions at The Children’s Therapy Center, a school for kids with disabilities.
She also participates in school events like the annual Halloween parade. Last year, using paper and feathers, Kamila constructed a Native American teepee over Sammie’s wheelchair. The previous year, she transformed it into a carriage – Sammie, a little princess, nestled inside. In the evening, the family engages in a modified version of trick-or-treating – a door-to-door distribution of Batten disease awareness flyers.
Sammie, who still visits her biological father twice a week, isn’t excluded from any activities and accompanies Kamila and Matt to restaurants, malls, parks, lakes, movies and even the July 4th fireworks.
The family recently returned from a vacation at the New Jersey shore. They spent hours on the beach in Wildwood – “The ocean air was great for Sammie’s lungs,” Kamila says, noting that her chest treatments were cut in half. Sammie, who has always loved the water, swam in the hotel pool with her mother’s assistance.
As if prompted by the summertime memories, a subtle smile appears on Sammie’s face. “Are you smiling?” Kamila leans toward her, voice elevating in pitch as if talking to a baby. She kisses her daughter and lingers for a moment, a vignette that seems to suspend time.
The field trips are never simple. “How do you change an eight-year-old child’s diaper in a restaurant?” Kamila asks, shaking her head. Sammie, who was fully potty-trained, reverted to wearing diapers at age five, after the Batten diagnosis. Now Kamila always carries a blanket.
Placing her into the car seat is an effort as well – she’s 75 pounds and unable to hold on. There are also travel essentials – suction, feeding, medicine, a portable oxygen machine. “It’s second nature now, like bringing toys or snacks,” Kamila says.
Still, she doesn’t complain. “I don’t find taking care of her difficult. This is my life,” Kamila says. She looks over at Sammie, who appears to be asleep, her head drifting to the side of the pillow, almost obscured from view. “I think what’s going to come after is the most challenging,” she tells me, quietly.
Behind her, two plaques pop from the wall, brandishing the same words: “I love you to the moon and back,” the family’s private saying, printed on blankets, pillows, shirts.
Sammie’s meal is complete and Matt carries her through the doorway, angling her to fit. She’s 4’3”, tall for her age. Matt, his shaved head generously freckled, is also trained to care for Sammie. His mouth is rigid, tightly drawn – a firm disparity from the affable grin that quickly stretches over his face, tiny crinkles springing up underneath reddish eyebrows.
I follow them outside, down a long wooden wheelchair ramp, through the grass and underneath a large canopy, zippering the mosquito netting behind me. Misiu breaks through the bottom, immediately attacking a soccer ball, almost taller than him. “They are best buddies,” Kamila says. “He always sleeps on her legs and cuddles with her.”
Sammie is laid out on a large swing, known as “Sammie’s Oasis,” covered by her trademark spotted blanket. It starts to drizzle, the drops creating small, dark circles, fleeting polka dots on the canopy. There’s an obvious change in demeanor – she appears more animated, alert. Her eyes open, sparkling, she sways back and forth, in sync with the rhythmic squeaking of the metallic bars. All of a sudden, another smile wanders onto her face, settles for a moment and disappears.
Kamila, excited by her daughter’s expression, strokes her face gently. “At this point, I just want her to be comfortable and happy,” she says.
Sammie will likely continue to regress into a vegetative state throughout what is predicted to be the final third — or less — of her life. However, she also faces the risk of sudden epilepsy-related death, as well as an increased chance of fatal infection, particularly pneumonia.
The gene therapy clinical trial, initially supposed to be eighteen months, was extended with regular phone interviews. The official results are not issued until a study ends, and although Sammie’s condition has indubitably worsened, it’s difficult to conclude whether the surgery actually slowed the rate of deterioration.
Kamila is no longer fixated on experimental treatment options. Due to her participation in the Cornell clinical trial, Sammie is barred from inclusion in others, as multiple treatments would confuse the outcome, rendering the results invalid. For LINCL, in addition to gene therapy, there are several ongoing studies that focus on stem cell transplantation and enzyme replacement.
The advancement of Batten research is hindered partially by limited government appropriation for rare diseases, says Dr. Margie Frazier, executive director of the Batten Disease Support and Research Association. Additionally, uncommon disorders like Batten are less known, even in the research community. According to Dr. Danielle Kerkovich, the principal scientist at the Beyond Batten Disease Foundation, an organization created in 2008 to accelerate research for diagnosis and treatment, there is simply little data for new scientists to put together solid hypotheses and subsequent research proposals.
Kamila has felt the effects of this. “You have no idea how many doctors I came across who didn’t even know what Batten was,” she says. As a result, she runs her own website, bringingsammiesmiles.com, a campaign for awareness, attention and research, with baby blue wristbands for sale.
Batten recently made unprecedented headlines when movie producer Gordon Gray, known for inspiring sports films like “Invincible” and “Miracle,” launched a website campaign, curebatten.org, to fund research for treatment options and ultimately, a cure. In March, Gray and his wife, Kristen, learned that both of their daughters have a variant of LINCL, distinguished from Sammie’s classic form by a specific gene mutation. Although multiple celebrities have promoted Gray’s cause through social media, the immediate clamor of publicity has since ceased.
* * *
A week later, I visit The Children’s Therapy Center where Sammie attends her daily therapy classes.
After a dimly lit and relaxing yoga session nearly puts Sammie to sleep, she’s back in her chair for music therapy.
The instructor plays an acoustic guitar, its dark wood mirroring her hair. “Everybody’s smiling,” she sings in a silvery voice, calling out each child’s name. There are drum sets, xylophones, bells and tambourines. Sammie waves a wicker shaker, with help from her therapist, Kelsey. It makes a frenzied scratching noise, a distinct addition to the orchestra. The room is filled with sound – clangs, clinks, bangs, jingles, rattles and twangs. There’s laughter and encouragement and with Kelsey’s assistance, Sammie claps, stomps, shrugs, nods and wiggles. She seems to come alive with the music, wide awake now.
When I leave, I pass through a little garden, part of the school’s horticulture program that Sammie participates in. It’s a sensory, hands-on experience, a chance to create something. Tin watering cans, painted stones and bird feeders are sprinkled all over. There are white clusters of flowers that resemble snowflakes and fiery marigolds. I think about Sammie, who received her First Communion two days ago, and wonder which flower is hers. It begins to rain again, and when I drive away, I can’t help but send Sammie one more smile.
* * *
Maria Edible is a writer and photographer currently living in Jersey City, N.J. Her work has been published in the New York Post and Zombie Guide Magazine. Find her on Instagram at @maria_edible.