Rare Disease Report

A Loving Big Sister Runs to Battle Batten Disease

NOVEMBER 16, 2015
Ricki Lewis, PhD
Laura King Edwards, of Charlotte, North Carolina, is running a race in every state in the United States in honor of her 17-year-old sister, Taylor, who has Batten disease. Wherever Laura runs, the media follow, raising awareness of the condition that has robbed her little sister of so much.

The Diagnostic Odyssey

Taylor King was born the August before Laura started 11th grade, in 1998. At first, Laura balked at the sudden onslaught of baby-related chores, but quickly fell in love with her beautiful and bright towheaded sister. Taylor could read before anyone else in her preschool class.
By first grade, Taylor clearly had difficulty understanding numbers, but the family certainly didn’t recognize at that time what significance this loss had, Laura recalls. “There were signs of the secret hiding in Taylor’s genes even then, but they were too complex and too twisted for any of us to understand,” she writes in her new book, Run to the Light.
Memory has a way of preserving images from just before and just after life’s major events. Today, Laura looks often at a photo taken with her sister, mother, and grandmother during a magical 1-week trip to the shore when Taylor’s future still seemed wide open. Laura also recalls vividly the first real sign that something was wrong, the event that, for the family, divided time. They were at the state fair in fall 2005, navigating down a shaded, narrow stairway leading out of a snack shack. Taylor froze. And everyone realized she couldn’t see very well in the shadows.
When new challenges arose in school, the diagnostic odyssey officially began. Nonverbal learning disorder led to retinitis pigmentosa, which eventually led, just before Taylor’s 8th birthday in 2006, to the ultimate diagnosis of neuronal ceroid lipofuscinosis, the infantile form of Batten disease. The learning difficulties and declining vision were just the first signs of a much bigger, and grimmer, picture.

Running Blind

The inspiration to run races in every state to raise awareness about Batten disease came from Taylor herself.
“When Taylor was 10, in the fifth grade, she was dealing with a number of symptoms, including being almost totally blind. One day early in the school year, Girls on the Run came to her school. They are an international organization, founded in Charlotte, of younger girls who, through running, learn how to believe in themselves and form a strong team. They develop self-esteem by running a 5k race by the end of the semester,” recalls Laura.
Taylor came home from school that day with a sign-up sheet. “Girls on the Run training is tough for any 10-year-old, and with Batten disease on top of that, you wouldn’t think she’d take that on. But Taylor never gave it a second thought,” Laura says. “Her friends were doing it and she wanted to take on the challenge.” What’s more, Taylor quickly emerged as the leader of the team, getting the girls to sing songs together and focus on training, rather than chattering about boys and parties. They were training for the 5k race in December.
Tethered by a jump rope to her friend Mary-Kate Behnke, a junior at her school, which was private and had many grades, Taylor was able to train. But when the King family arrived on race day, they suddenly discovered they’d forgotten the jump rope. “We had a moment of panic, and then we realized my husband had bungee cords in the car. Taylor ran with one of those,” Laura remembers with a laugh. “When you’re fighting a rare disease, you learn to improvise and make do with what you’ve got. Watching her crossing the finish line of that first 5K race is the most inspiring thing I’ve ever seen.”
As it turned out, says Laura, “I ran my first race for her the next year. But Taylor did it first!”
Although she’d played soccer in her youth, Laura wasn’t a runner. No matter: In 2009, Laura trained hard and ran her first half-marathon for Taylor. Then in 2013, she ran the same half-marathon blindfolded to mark the 5-year anniversary of Taylor’s first race. Laura used her sister’s bungee cord for luck.
A Rare Form of a Rare Disease
Taylor has the infantile form of Batten disease, neuronal ceroid lipofuscinosis or CLN1. Her doctors were surprised when genetic testing identified the infantile form, because most children with that form do not usually survive past age 5 or so. Taylor’s cells, however, make a very small amount—2 percent of what is normally produced—of the enzyme palmitoyl-protein thioesterase-1, or PPT1, that the gene encodes. That anomaly “has delayed the buildup of gunk in her cells. She’s rare among the rare,” Laura King says.
The King family and their friends founded Taylor’s Tale. Taylor and Laura’s mother Sharon King is president. The foundation raises funds for research, particularly for the development of enzyme replacement therapy and gene therapy.

Philly Is Next

Laura decided to extend her running to every state to spread awareness. “After the blindfolded race, I'd done about all I could do with the running story in our own community. It was time to take it nationwide. And in most cases, I'm making a connection to the race or the community where I choose to run. Philadelphia, with its strong rare disease advocate group, is a perfect example,” Laura says.
So far, Laura has raced for Taylor in North Carolina, Oregon, Tennessee, South Carolina, Texas, Virginia, and North Dakota, and most recently, she ran the Kauai Half Marathon in Hawaii and the Athens Half Marathon at the University of Georgia.
Laura blogs about her experiences at Write the Happy Ending (http://taylorstale.org/write-the-happy-ending/). She tracks the media coverage of her Taylor-inspired racing, too, including that of Runner’s World and the cover of Endurance Magazine.
Laura’s 10th race will be the 8.4-mile December 6 Schuylkill River loop race (https://runsignup.com/Race/PA/Philadelphia/SchuylkillRiverLoopRace) in Philadelphia, home to a vibrant community of rare-disease researchers and family advocates. “I’ve never seen another 8.4. That’s the distance of the historic trail paved around the river. It’s perfect—a rare distance for a rare disease,” says Laura.
In Philly, Laura will be running with Kristin Smedley, president of the Curing Retinal Blindness Foundation (www.crb1.org). Until now, the 2 women have met only virtually, through social media and shared contacts in the rare disease community.
Kristin is thrilled to finally have the chance to meet Taylor’s big sister in person. “Laura's love for her sister catapults her energy to do something to beat Batten disease, and that is a catalyst for advocacy and progress for all rare patients. As a mom of 2 boys with the rare CRB1 blindness, I know first-hand how our love of our affected family members keeps us pushing, mile after mile, through setbacks and challenges, to get to that glorious finish line. I am honored that Laura has invited me to join this collaborative race for the rare community in my home city of Philadelphia, the City of Brotherly Love. I look forward to celebrating with my rare brothers and sisters at the race finish line, but mostly, I look forward to the day we all get to celebrate each other's personal finish lines: cures for our rare diseases,” she says.

​The Future

Laura fits her racing around a career that has continued uninterrupted since she graduated from college, where she majored in fiction writing. After 8 years on the corporate marketing and public relations team for Novant Health, she joined Wray Ward, where she specializes in public relations and develops and markets written content for top national clients. Laura is very grateful that she never moved too far away from her parents and Taylor, to see them through this journey that no one ever expected.
The past 2 years have been especially tough. “Taylor has been totally blind for years, and is now completely nonverbal. She cries a lot. Multiple times she’s been taken to the hospital by ambulance for uncontrollable seizures. She has a feeding tube and hasn’t tasted food in over a year,” Laura says. Medical setbacks coexist heartbreakingly with moments of daily living. For example, Laura documented the exact point when Taylor lost her ability to walk as “the time between 2 haircuts” (http://taylorstale.org/between-haircuts/).
Meeting others in the rare disease community has helped the King family cope with navigating the “outside” world. “So many diseases out there, people are sick for awhile, they endure a bad spell… People just think [those with other kinds of diseases] can go to a hospital and get medicine and eventually all is better. They think we can fix it. But for some diseases, especially chronic ones, it is a long, long road. Once the snowball starts rolling downhill, you never get better. A diagnosis like this shatters everything. We’ve been picking up the pieces ever since,” says Laura.
Within the rare disease community, certain families come to the forefront, gathering the experts, identifying the most promising therapeutic approaches, and raising the funds to get clinical trials off the ground—even while knowing the payoff may come too late for their loved ones. The Kings are one such family that has turned tragedy into a catalyst. Gene therapy research will be the weapon of choice against infantile Batten disease, at the University of North Carolina (https://www.youtube.com/watch?v=RUE7qmNuhFs).
The promising future for others is what keeps Taylor’s family going, especially the big sister who never expected to have a little sister. “The only good side to this disease and the 9 years we’ve been fighting it is the progress I have seen for future Taylors,” emphasizes Laura. “If nothing else, I know the courage with which she’s fought will lead to an incredible legacy as we build a better future for people like her.”

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