Charlotte’s WebJanuary 25, 2014
Story by Claire Moorman
Photos by Dave Weatherwax
A few leaves of fresh spinach, lightly dressed, sat on 3-year-old Charlotte Bradley’s lunch plate. Tuna salad, no bread, waited nearby.
On a snowy day at Winkler’s in Jasper, Charlotte reached hungrily for the greens, made noises of satisfaction as she swallowed the tuna. Conspicuously absent were all the normal toddler favorites: sugary cereal, potato chips, candy.
No Kool-Aid or cookies or McDonald’s Happy Meals have ever passed young Charlotte’s lips. She lives life on a perpetual diet that would baffle even the most diligent health food nut. This is life with Prader-Willi Syndrome, a rare genetic disorder that someday soon will prevent Charlotte from ever feeling full after her meals and burden her with extra pounds even if she sticks to a low-carbohydrate, low-calorie plan.
That’s why her life is so structured, her every meal planned. Looking at her now, she is lean and slightly taller than average, with a winning smile and laugh. She doesn’t know yet about her increased risk for obesity and diabetes, but those two words will follow her the rest of her life.
Her fellow preschoolers enjoy their daily breakfast provided by Ferdinand Elementary School — on Charlotte’s first day in early January, the rest of the kids munched on french toast sticks dipped in syrup cups — but Charlotte’s mother, Anissa, of Ferdinand must rise early each morning to concoct a healthy egg and spinach dish and cut it into tiny pieces to ensure Charlotte won’t be able to stuff her mouth with too much food at once.
The preschool kids gathered around their breakfast table, happily chose their milk flavor and enjoyed the sugary goodness of a popular morning treat. At the head of the table, Anissa popped open the Tupperware container of scrambled eggs and set it in front of her daughter. Charlotte didn’t think twice as she stuck piece after piece into her mouth.
It is her job, Anissa says, to give Charlotte a taste for vegetables and fruits, to keep her away from preservatives, nitrates and genetically modified snacks. Someday soon — maybe in a few short years, perhaps in a few very short months — Charlotte may no longer be able to control her desire for food. And when she is strong enough to open the refrigerator on her own, tall enough to reach the goodies in the kitchen cabinets without her parents’ help, old enough to drive a car to the local fast food joint, Anissa hopes these life lessons will make her think twice.
This month, Anissa and her husband, Chuck, solemnly celebrated their third anniversary of bringing Charlotte home from the hospital. She was a perfect, healthy baby for six days, Anissa remembers of her first and only biological child, but on that sixth day, Charlotte stopped taking food and lost control of her muscles. On Christmas Eve 2010, she was admitted to Kosair Children’s Hospital in Louisville and her parents were warned that cases like their daughter’s don’t always turn out well.
“You see all these other sick preemies, and you’re just like, ”˜Oh my gosh, what’s going on?’” Anissa said of her arrival to the neonatal intensive care unit. “The neurologist finally came back from being on Christmas break and he said, ”˜This is what I think it is,’ and I still have the piece of paper. He wrote it down. The very top thing he wrote was ”˜PWS’.”
Coincidentally, Anissa had heard of the disease before. A high school friend in her Kentucky hometown had a sister with the syndrome and Anissa’s mother, Diana Gideon, used to work in a group home in Lexington, Ky., that served victims of the disease. But most people know about only one aspect of PWS: the insatiable hunger. The Bradleys were about to find out just how far-reaching its effects could be on their new little girl.
PWS affects somewhere around one in 25,000 live births and is passed down genetically when a set of seven genes on chromosome 15 are deleted from the fetus. No one else in the Bradley family has the disease.
There are seven stages to Prader-Willi. The first, ironically, is failure to thrive. Babies with PWS often eat very little and are therefore in danger. Their muscle tone is low, so they become limp in their parents’ arms. Finally, babies start to eat normally again. Their appetite is not yet insatiable. It’s almost as if everything is fine.
“I think back to when she was a baby, and sometimes I just wish she could stay at that age,” Anissa said. “It would be nice for her to just stay in a safe age, but we keep on moving forward.”
Charlotte is likely in the second stage of PWS and risks gaining weight for almost no reason. For PWS sufferers, a sign of moving into a new nutritional phase is narcolepsy during meals.
“If you’re not used to it, it can be kind of scary,” Anissa said as Charlotte’s head began to bob and her eyes grew heavy during lunch one summer afternoon. In her hand, an organic peanut butter and jelly sandwich on a low-carb tortilla grew soggy as she struggled to keep herself awake enough to bring the bite to her mouth.
Anissa is accustomed to it. She went on making the rest of Charlotte’s lunch while babysitter Courtney Jones, a Southridge High School student and one of Anissa’s voice lesson students, continuously jostled Charlotte back awake.
“These are flax snacks,” Anissa said of the grain mix she placed on Charlotte’s high chair. Charlotte temporarily perked up at the sight of another bite of food but her head again drooped.
“It’s raw and it’s spouted grains, so it’s high protein and it’s organic. We don’t do any added sugar at all,” Anissa explained. “Things that we can control, I’m going to control.”
Anissa has also taken control of Charlotte’s motor and verbal development, both of which have already been delayed by her condition. Charlotte can say only a few words, though other children her age normally speak in full sentences. She also has decreased proprioception, meaning it is difficult for Charlotte to feel her body in space, making her clumsy. She wears special inserts in her shoes to squeeze her feet and give her more sensory input.
“If you can imagine going through life with gloves on, that’s what her body feels like to her,” Anissa said.
Charlotte has several therapy sessions each week at home, Memorial Hospital and at the Ferdinand Elementary developmental preschool she attends on Tuesdays and Thursdays. During the warmer months, hippotherapy, or horse riding, helps strengthen her back muscles to prevent her scoliosis from worsening. Her former speech therapist, Tara Hopf, used to visit the Bradleys’ home each week to work with Charlotte’s verbal skills.
“We worked a lot on receptive language, getting her to try to understand speech first,” Tara said during her final session with Charlotte this summer before accepting a new job. “Now she’s doing really well following directions, identifying objects.”
Getting Charlotte to even attempt to say a word can be a challenge. Tara spent several minutes last summer trying to convince her to say “Bye” to a toy they were putting away.
“Remember we pop our lips,” Tara told Charlotte, springing her fingers apart as she popped her own to make the “B” sound. “We’ll use some gestures. Sometimes, if you put some kind of tactile type movement with the speech sound, it helps her to produce it better.”
Tara rubbed the inside of Charlotte’s mouth with a brush covered in sour flavor. The brush’s movement helps Charlotte notice the muscles of her mouth.
“A lot of times kids who are more low (muscle) tone in their mouths, they want those high foods, sour and spicy,” Tara said. “(Those flavors) give them more input.”
At OT for Kids with Dana Myer Hopf in Jasper, Charlotte practices her fine motor skills once each week. She lies, curled up on a small merry-go-round device that Dana can spin to refine Charlotte’s vestibular, or balance, system. The spinning activates snail-shaped structures in Charlotte’s ear that tell her brain information about her body position. The more she practices on the wheel, the better she can balance in her everyday life.
“When you have someone like Charlotte who’s having trouble with balance, one of the things to do is to try and stimulate those movement sensors to help her become more aware,” Dana said.
Charlotte attempts new words each month and constantly learns to do new things with her body. Her therapists are generally impressed with her progress, but for Anissa, sometimes being the mother of a PWS child is full of ups and downs. Charlotte may climb stairs on her own one day and take a hard spill on the carpet the next. Even with weekly exercises, a nutritionist in California, a specialist in Florida and several other doctors monitoring her growth, new worries always linger.
“Am I pushing her enough? Am I nurturing her enough?” Anissa asks herself, remembering those early days when she watched her daughter first start to fall behind physically. “For the longest time, she would just lay there. She couldn’t lift her head up, she couldn’t roll over. You appreciate those milestones so much more. You have to take a deep breath, rely on your therapist and just do the best you can.”
It’s important never to let anything in their lives become too routine. With Chuck at work full time as the Forest Park choir teacher, Anissa has happily jumped into the roll of super mom, taking responsibility for shuttling Charlotte to and from her appointments, fixing balanced meals and recording new words and signs Charlotte uses. It would be easy for her to make a daily schedule and stick to it, but keeping things too routine can trigger Charlotte’s PWS-related anxiety and make it more difficult for her to be flexible in the future.
Charlotte registers on the autism spectrum, and obsessive-compulsive behaviors are her newest PWS symptoms to emerge. At Winkler’s earlier this month, a pesky stray poppy seed from her spinach dressing stuck to her thumb. Charlotte stared at it, making small whimpers until she was handed a napkin.
“We go through lots of napkins,” Anissa said with a laugh. She looked over at the little girl concentrating hard on removing the errant seed. There is always concern in Anissa’s eyes. For now, Charlotte munches happily on whatever food her mother gives her, blissfully unaware of sweets and greasy fried treats. But waiting for her “hyperphagia,” or overeating phase, to set in is like waiting “for the other shoe to drop,” Anissa said.
She will never forget the day two years ago when she was in Philadelphia for a Prader-Willi conference and saw a teenaged boy with PWS eat a piece of food off the floor of a Philadelphia subway station. His parents didn’t notice. It’s a reminder that Anissa and Chuck cannot always be there to protect their child.
“We’re going to have to have the kitchen redesigned. We’re going to have to put locks on the cabinets,” Anissa said. “The thought of the unknown just terrifies me as a parent. She will have to be monitored for the rest of her life.”
The first step in monitoring Charlotte is learning to monitor herself.
“Food for her is medicine. I’ve just had to embrace that. My favorite snack as a teenager was Doritos with french onion dip and a bottle of Pepsi and a can of SpaghettiOs,” Anissa remembers. “I realized I have to take care of myself even before I take care of her, because if I don’t do that for myself, that’s not being a good role model. I just got to the point where I’m not going to drink sodas anymore, I’m not going to go to McDonalds. I don’t want her to see those things.”
The second step for Anissa is taking real action. In September, she organized a walk for the Foundation for Prader-Willi Research at 18th Street Park in Ferdinand, raising more than $4,000 in the process. It’s a fundraiser she hopes to host every year in late summer.
“It feels a lot more hopeless if you’re not doing something,” she said.
Anissa receives support from her real family outside the state — she moved from Kentucky to Perry County in 1995 and then to Dubois County in 1998 — but also from a new family of others throughout the country who have been affected by PWS. One mother, Alice Pund of Dale, has a son named Braden with the disorder. Anissa keeps in touch with those friends on Facebook and by phone and is able to compare notes about Charlotte’s developmental stages with the stages of other children. She organizes the local Prader-Willi walk, raises money and travels the community to speak about the disorder both for her own daughter and for the children of her friends.
“The good thing is, we can all learn from each other. If you meet another family that is affected by PWS, they will give you the shirt off their back,” Anissa said. “As awful as it is sometimes, the blessings that have come out of it because of the other people, it gives you a lot of hope.”
For now, the Bradleys live in the strange midpoint between controlling the things they know and fearing the unknown. Anissa reads research and consults with Charlotte’s doctors, including Dr. Norma Krelein of Jasper, in a constant effort to build her skills in being mother to a sick toddler. It may seem like she knows it all, but she’s only just learning. It may seem like she has it all together, but she’s still praying it doesn’t fall apart.
Charlotte could grow up to live her life independently, or her physical and mental delays and hyperphagia could force her to spend her adult life in a group home or with constant supervision. There is no way of knowing yet how things will turn out in her case.
“A nurse asked me, ”˜Are you a medical expert?’ I said, ”˜No, I’m my daughters’s advocate,’” Anissa said, remembering an earlier trip to a Louisville medical facility. “I feel that I have been preparing all my life to be her mom. That was just maybe one of those things that God knew and I didn’t.”
God gave them each other to lean on, and the challenges won’t be too much. Charlotte is healthy, and she is happy. That’s what the Bradleys want.
“Do you want another bite of tuna?” Anissa asked, holding a forkful up for her daughter, who leaned forward in her chair.
Charlotte reached out her hand, and with a smile most toddlers reserve for candy and ice cream, let out an enthusiastic, “Yeah!”
Contact Claire Moorman at firstname.lastname@example.org.
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