BOUNTIFUL Callahan Williams kneels beside the pad where daughter Eliza, 3, has been carefully positioned for comfort. He puts his face inches from hers and makes a loud popping sound. Her breathing quickens briefly, and her lip twitches.
The swinging games and tickling tag, the peek-a-boo and clapping are gone, banished by a degenerative neurological illness that, in the space of a few months, has taken a sociable, rambunctious toddler backward through time.
They loved to blow bubbles, and he still does it, giving a sunny commentary as the bubbles wend their way to her forehead or hand, where she can feel cool moisture before they break. Her little tongue vibrates slightly on her lower lip.
He thinks hopes that she's laughing.
Eliza was diagnosed last Sept. 11 with metachromatic leukodystrophy, and by Christmas she had lost the ability to walk, to talk, to sit up, to move her hands with purpose. The little girl who loved food can no longer swallow, so she "eats" through a tube that transports Pediasure directly into her stomach.
For a while, she could say "uh huh," but that's gone now. Her vocalizations now are little grunts and squeals, and they're rare enough to spark excitement from her mom, Nikki.
In the past six weeks, Eliza has lost head and neck control. She can no longer see.
It's not all gone, though. Nikki Williams says there's something bittersweet about what has been left behind. Eliza can still think; experts say the disease does not diminish cognitive ability, just the ability to use it in a meaningful way.
Dressed in pinks and yellows, her favorite colors, eyes half-closed as she reclines against a cushion, she looks like one of the little princesses she was starting to love when the disease changed everything.
Nikki and Callahan Williams, both 29, are Utah natives who met at the University of Utah. They married, and he started his own software business. When Eliza was born on 03/04/05 and "how cool is that?" her mom adds everything seemed perfect.
Nikki used to teach special education, and she says she always watched Eliza hit milestones. Until age 2 she was, if anything, ahead of her peers, her mom says.
She adored animals, especially the odd ones with unusual names: dolphins and otters and peacocks and camels. By the time she was 18 months old, she could name them all and spent happy hours playing with her Little People Barn and Noah's Ark. An especially good day involved going to the zoo, then coming home to watch movies about animals.
"Moo-oooo," she'd say. "Quack, quack."
She learned sign language for kids with the Signing Time DVDs and sang along with "Shrek 2." She bustled around her toy kitchen, pretending to cook. She could recite every word of her favorite book, "The Little Mouse, the Red Ripe Strawberry and the Big Hungry Bear," as her mom cuddled her and read to her at night.
Eliza loved to dance but was never coordinated. She'd plant her feet in one spot, bend her knees and sway her hips. Her mom noticed she was cautious physically. At age 2, she couldn't run or jump, something that struck Nikki as "weird." But she was assured that kids just develop at their own speed and Eliza was fine. Still, when it came to walking and balancing, the "busy body" moved slowly and with care.
Her eyes gave the first sign of trouble, although her parents couldn't begin to dream what it would portend. When she was 14 months old, they crossed. And over time the color started changing from a bright blue to what is now a grayish-green.
An MRI was normal, so she had eye surgery to correct the muscle pull. It worked for about a week, then one of the eyes turned out, instead of in. She could walk but was "really wobbly." Again, doctors provided reassurance. She's just taking a little longer to use her legs well. Or, it will level off when she heals from the eye surgery.
"I wish now I had been more assertive," says Nikki. "I really felt something was off."
But when you're worried about someone you love and you're being reassured, who wants to argue?
The second sign was not subtle. Eliza started crawling again, something the ophthalmologist said was definitely not normal.
Callahan and Nikki took her to a neurologist, who noted a slight tremor in her right hand, which she was beginning to favor completely over her left. Changes were coming quickly. The little girl locked her knees when she stood and her hips were tight, but her ankles rolled loosely when she walked. The neurologist said something was wrong with her muscles, her spine or her nerves. Finding out what, though, would prove more challenging than they expected.
The doctors first suspected spinal muscular atrophy, a condition that affects motor neurons and is the leading genetic killer of children younger than 2. A nerve conduction test ruled that out. It was likely, they were told, that Eliza had Charcot-Marie-Tooth disease not good news, but with leg braces and intensive physical therapy, manageable.
As the decline continued, another neurologist said it was more likely she had Guillain-Barre syndrome. The next diagnosis was chronic inflammatory demyelinating polyneuropathy, an autoimmune disease with similar symptoms but which is reversible. Doctors recommended a spinal tap, and the Williamses were "ecstatic! We thought that with a lot of hard work and physical therapy, Eliza would walk again. And she did, with a walker."
All too briefly.
With some diseases, change is dramatic, and so it was with Eliza. Over a 10-day period her mom and dad watched fearfully as the rigidity in her hips, legs and ankles became more apparent. Everything hurt her, from a diaper change to a trip in the car or being seated in her high chair. Her tremors were coming like tidal waves, her legs shaking. When she sat, she hunched way over and held her arms straight out for balance.
Even with Valium to relax her muscles, her body was stiff. Her toes pointed down like a ballerina in toe shoes.
Back home, a new MRI showed dramatic change in the white matter in Eliza's brain. In September, doctors gave them the diagnosis that would stick: metachromatic leukodystrophy.
They rushed out to get a family photo taken. In it, Eliza is laughing uproariously, cradled on the knees of her parents. She was still very much a 2-year-old at the time. It is the before and after point, because day by day everything would change. This time, they know, she's not coming back.
MLD is one of the leukodystrophies, a set of diseases caused by genetic defects in how myelin produces or metabolizes enzymes. There are different leukodystrophies, each the result of a defect in the gene that controls a specific enzyme. They all impair the growth or development of the myelin sheath, which insulates nerve fibers, according to the National Institute of Neurological Disorders and Stroke. Myelin is made up of those 10 enzymes, and when one of them goes wrong, disease results.
Callahan and Nikki were both unknowing carriers of a genetic defect that is much more common than one would guess. When two carriers have a child, that child may develop the leukodystrophy.
The enzyme that has changed Eliza's future is arylsulfatase A, and the result is toxic buildup of lipids in the cells of the nervous system, liver and kidney. There are three forms: late infantile, juvenile and adult. Eliza has the late infantile form, the most common and most severe.
Typically, children have trouble walking after age 1. Symptoms include muscle wasting and weakness, muscle rigidity, developmental delays, progressive vision loss, convulsions, trouble swallowing, paralysis and dementia. Most children with MLD do not live to age 5. The other forms start later and progress more slowly.
It is a disease without a cure, although a bone marrow transplant may delay progression of the disease for some. People who have sought bone marrow transplants for their children say the symptoms freeze where they are. You don't get anything back. But if all goes well, it doesn't steal anything more, either. A number of families who lose one baby to MLD they didn't know they carried are able to get gene testing on later babies and opt for the bone marrow transplant early.
By the time it was an option for Eliza, she'd already lost pretty much everything. Except for the love of a mother who reads to her and talks to her constantly. The love of a father who paints her tiny toenails burgundy and blows bubbles into her hands and makes funny noises so she can laugh.
The love of parents who believe in a loving God and an afterlife that will set her free, where they will see her again when it is time.
As fall turned into winter last year, Eliza was anxious and fussy. These days, she's mostly calm. She sleeps at night and takes a single nap during the day, although she's more groggy when the newspaper reporter and photographer come to her house because she's recently had seizures, and the medication given to control that slows her way down.
But she's not in severe pain like she was. And she's breathing OK, although she drools a lot. Mom or Dad are always wiping her mouth. Many children with MLD need to be suctioned, and that's likely in the future. They've been told breathing will get harder, and she'll likely die of a respiratory infection. Most children with infantile MLD die around age 3 1/2.
Right now, they embrace as a family the things the little girl still loves. Weather excites her, especially the feel of snow or rain on her face. They like to take her outside. She still loves water the feel, the sound. After she was diagnosed, they went to San Diego so she could dip her foot into the ocean. Family friends arranged for her to play with a dolphin. Now she's content to listen and feel the drops of water on her face.
Cousins and neighbors come visit, and she still loves babies and other kids, although the signs are becoming more subtle, Callahan says. He looks for that little smile, the quicker breath.
As they tell Eliza's story, Callahan strokes her hand or cuddles her. She is, he notes, the only grandchild on his side of the family.
"You are the party, huh?" he coos close to her ear.
And she really is.
She will not have many more birthdays, so they started a tradition when she was diagnosed. They have a small birthday party on the fourth day of each month, inviting friends and family over for chitchat and a little dessert. On party day, there's a pile three deep of shoes inside the front door as dozens of friends drop by.
Building Eliza's Library
Because Eliza always loved books, her family and friends started gathering them. They hope to get thousands they're calling it Eliza's Library to donate in her honor to special education classrooms and health clinics that serve children throughout the state. A neighbor boy, Kyle Dunshee, took it on as a Scouting project. They've gathered about 2,800 books so far. More about Eliza and her library is online at Elizaswish.org.
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