Jasper’s Legacy

Published: July 5, 2016 ~ 2

By Laura King Edwards

Early this morning, I learned of the death of Jasper Duinstra in the Netherlands. When I saw the news on Facebook, my eyes misted and my legs went numb and my heart caught in my throat. But I’m supposed to be strong, so I wiped my eyes and shook out my legs and swallowed the knot, and I stood up at my desk and walked to a meeting.

Jasper’s family is Dutch but briefly lived in the U.S., where they formed fast friendships with other families fighting Batten disease. Jasper’s parents, Bou and Pip, believed in approaching the challenges of Batten disease in the same spirit as their young son’s approach to life – a spirit of enthusiasm and commitment. They established a fund, Jasper Against Batten, to support potentially lifesaving research. continue reading →

What I’d Buy if I Won Powerball

Published: January 14, 2016 ~ 0

By Laura King Edwards

Tonight marks the drawing for the record-breaking, $1.5 billion Powerball lottery.

I don’t normally play the lottery, but when some of my coworkers decided to buy tickets together, I thought, why not? So I threw my $2 into the pool.

And that got me thinking: what would I buy if I won Powerball? continue reading →

Gene Therapy Trial Paves a Path for Other Diseases

Published: June 25, 2015 ~ 0

By Laura Edwards

Today, UNC Health Care announced an innovative, gene transfer-based treatment approach for children with giant axonal neuropathy (GAN). The treatment, developed by researchers led by Steven J. Gray, PhD, is the first of its kind. A clinical trial is now underway at the National Institute of Neurological Disorders and Stroke (NINDS) of the National Institutes of Health (NIH).

This is significant news for Taylor’s Tale and the Batten disease community because we’re funding Dr. Gray’s work on infantile Batten disease – work modeled after the GAN research that is now treating children at the NIH. continue reading →

Gene Therapy and a Birthday Party

Published: June 20, 2015 ~ 4

By Laura Edwards

Every time I visit Steve Gray and the University of North Carolina Gene Therapy Center, I want to run home and immediately write a blog post and email all of my media contacts and friends in the rare disease community and tell them what’s happening in a lab two hours from my hometown. I want to tell them Steve and his team are going to change the world.

But when I get home, I can’t find the right words, and instead I just scroll through my pictures and reread my notes and wonder how I can possibly feel so inspired knowing we’re too late to save my little sister. continue reading →

The Cost of Rare Disease

Published: March 29, 2015 ~ 0

By Laura Edwards

My family has been fighting Batten disease for many years. Once upon a time, my sister Taylor earned straight As in school and sang the words to all the songs she heard on the radio. She insisted on joining the Girls on the Run program at her school, even though she’d recently lost her vision. She ran two 5K races with her team.

Today Taylor is totally blind, unable to speak, learn or walk, suffers from seizures, and has a feeding tube. Batten disease stole my sister’s childhood. Now it’s stealing her life. Other lives, too, are being changed by Taylor’s illness – those of her family, friends and all who love and care for her.

This is the human cost of rare disease. continue reading →

The Launch of a Trial, and the Light at the End of the Tunnel

Published: February 15, 2015 ~ 0

By Laura Edwards

Nearly five years ago, when my sister could still sing and talk and walk and eat ice cream cones on hot summer days, my mother met Steve Gray, a young investigator from the University of North Carolina Gene Therapy Center, at a conference in Bethesda. Since 2008 he’d been working on giant axonal neuropathy (GAN), an ultra-rare, fatal childhood disease that causes progressive nerve death.

A few months later, we drove to Greensboro to have dinner with him. We weren’t ready to take the leap then, but Mom believed in Steve since the first time she heard him speak about his effort to save children from a monster that turned them into quadriplegics unable to eat or breathe on their own. When I sat across from Steve in our booth that night, I believed in him, too. continue reading →

Confessions from Laurel Hill

Published: April 26, 2014 ~ 5

By Laura Edwards

Today, I joined 6,200 other runners for the seventh annual Tar Heel 10 Miler in Chapel Hill.

John and I jogged from the Carolina Inn to the bell tower on the campus of my alma mater, the University of North Carolina (UNC); we met Steve Gray, our friend and a UNC gene therapy expert whose work makes me believe, just as the morning light touched the towering pines and the dew-kissed pink and white azaleas.

I’ve battled various injuries since early March, including a mysterious ankle problem for the past week, that have limited my training; I ran just 25 miles in April prior to today’s race, less than an average week for me in 2013. I didn’t know what to expect from this race, my fifth consecutive entry in the Tar Heel 10 Miler. Butterflies wrecked my insides as we waited to begin. But no matter what, I start every race with the intent to run faster than I’ve ever run before. One month ago, I ran the Charlotte 10 Miler in 1:17:49, a 7:46/mile pace. So after Steve and I saw John off for the four-mile run, I wished Steve good luck and found my way to the 7:30/mile pace group.

I got off to a quick start and stayed with my pace group for most of the race. But around mile six, I began to feel winded. I wondered whether I’d started too quickly.

As I hit a long downhill stretch close to mile seven and eased up to save my quads, I thought about my family at home in Charlotte. My parents and Taylor started the 150-mile trek to Chapel Hill on Friday evening, because they wanted to be there for me today. But when you’re fighting Batten disease, a lot can happen in 150 miles.

My family never made it to Chapel Hill last night; Taylor got sick around Greensboro, and they had to turn around and go home.

I hate Batten disease.

I know the Tar Heel 10 Miler course almost as well as my own neighborhood, but Laurel Hill always sneaks up on me. Laurel Hill, the 200-foot vertical gain that spans just under one mile near the end of the race, is a personal record (PR) killer. A lot of people walk it. Though I’ve come close to speed-walking the tough stretch, I always find a way to power through the hill (actually a series of consecutive hills). Last year, I ran Laurel Hill in 7:18.

But as I began the first steep climb, I felt a deep burn in my legs and my chest. I fought through the urge to slow to a crawl.

When I crested the first hill, I came upon a small crowd of supporters clustered at the top. Keep going, they said; keep pushing; you’re almost done. In the middle stood a woman clutching a poster that read, “Don’t stop believing.”

At that moment, it hit me: I’m going to lose my little sister, no matter how fast I run.

I’ll never know what quit on me – my legs or my heart. But there, under a canopy of trees and the bright, blue sky beyond, I walked for the first time ever in a race. And as I took long, deliberate strides toward the finish line, I cried behind my sunglasses.

I didn’t run my best race today, but I finished. The ghost of Laurel Hill behind me, I recovered to run the last mile in 7:18 with wet eyes. I floated through the stadium tunnel before sprinting onto the track for the final stretch, pummeling Batten disease every time my shoes pounded the rubber.

Though she proved too ill to travel to Chapel Hill, I felt my sister’s presence when I crossed that finish line at 1:24:11.

And I still believed.

What’s Next?

Published: March 16, 2014 ~ 4

By Laura Edwards

I (almost) never buy race photos. They catch me at my worst moments. When I look at the proofs, I think, “When did I make THAT face?”

But I not only bought this one-I blew it up to 16″ x 20″ and paid to have it matted and framed. It captured a moment I’ll never forget and tells a story in a way no words ever could.

I’m blindfolded, but I’m not tethered to Andrew Swistak, my friend and guide. He’s finishing his own race, but he’s also watching the ground to make sure I don’t fall.

Steve Gray, my friend whose work at the UNC Gene Therapy Center could lead to a better future for kids like my sister, is tailing us and snapping another photo I’ll treasure forever.

And, best of all: can you find the crowd of purple-clad teens running down the 5k side on the left? They’re not racing-they’re chasing us. When I removed my blindfold after two hours in the dark and melted into my mom’s arms, they surrounded us in the finish area.

We had our Hollywood ending to five months of a lot of hard work and one dream – a big dream in its own right that, at the end of the day, is just another chapter of a long story in our very personal fight against Batten disease and the bigger fight for 350 million people suffering from a rare disease.

It would have been perfect if only my little sister had been well enough to come to the race that morning to share it with us. Just as the finish line picture tells a story, her absence from the hundreds of photos taken at Charlotte’s Thunder Road Marathon tells another story of the cruel reality of a disease with no known cure; a disease that marches on in a body that doesn’t have the tools to fight it, no matter how strong or brave the soul inside may be.

Today, a friend asked me if I think I’ll ever run Thunder Road, or any race, blindfolded again. Without hesitating, I said no. It’s not that I dread the thought of it or doubt my ability to do it, the willingness of Andrew or someone else to guide me or even the potential of a second run to have a positive impact. It’s none of those things.

I can’t explain it, but there was something magical about what happened at Thunder Road on November 16, 2013. I felt it when I ran beneath the canopy of trees on Charlotte’s Queens Road West, untethered yet never so sure of my surroundings. I felt it when we approached the corner crammed with Taylor’s Tale supporters less than a quarter of a mile from the end. I felt it as Andrew and I approached the finish line on the final stretch. I’d never felt that way in my life, and I’ll never get that feeling from a race again. But for as long as I live, I know that I’ll only have to remember those moments, and I’ll be transported back to the day my little sister, blind and suffering from a fatal disease, gave me the courage to run 13.1 miles in the dark.

There won’t be another experience like Thunder Road. But I’m not done fighting this fight, in running shoes or otherwise. Far from it.

Do you have an idea for my next chapter in the fight against rare disease? Let me know in the comments. Meanwhile, I’m gearing up for next weekend’s Charlotte 10 Miler (rescheduled after flooding on the greenway in February), my first race of 2014. I won’t be in a blindfold, but I’ll be dressed in purple for Taylor.

2013: The Memories

Published: December 29, 2013 ~ 2

By Laura Edwards

As the sun sets on 2013, our seventh full year fighting the war against Batten disease, I know in my heart that in many ways, the story has just begun.

On Jan. 4, we remembered my Grandma Kathryn, an angel in life who earned her wings on Christmas Day 2012. My grandmother, who loved her grandchildren more than she loved her own life, urged us to fight the demon from the moment we got Taylor’s diagnosis in the summer of 2006. She had no way of knowing that she, too, had a tragic neurodegenerative disease lurking inside of her. There was nothing she wanted more than an answer for the disease that dared to steal her granddaughter’s life. I fight for Taylor, but I fight for Grandma Kathryn, too.

On Feb. 28, World Rare Disease Day, Taylor’s Tale announced that we had joined an international coalition to fund gene therapy research at the University of North Carolina. Dr. Steve Gray and his mentor, Dr. Jude Samulski, are not the only talented scientists working on Batten disease. But I believe in them because of 1) what I’ve learned about the science of Batten disease in seven-plus years, 2) what I’ve been told by their respected peers and 3) something in my heart that I can’t describe. And I believe in my heart that if we can continue to fund this project, we’ll have a clinical trial for kids like Taylor in a few short years.

For the fifth consecutive year, music students and teachers held a playathon for Taylor’s Tale in Raleigh, N.C. Their efforts raised thousands of dollars and a great deal of awareness for our fight against Batten disease. I love these kids and their teachers. This event is special.

In April, Taylor’s former classmates at The Fletcher School held their second cardio craze fundraiser with local celebrity Andre Hairston. They turned a school gym into a sea of love and hope.

On June 1, I announced my plan to run the Thunder Road Half Marathon blindfolded to honor Taylor and support the fight against rare diseases.

Eleven days later, Mom spoke at the National Institutes of Health (NIH) on behalf of Hannah’s Hope Fund. Mom and Lori Sames, founder of Hannah’s Hope, delivered amazing speeches, and Hannah’s Hope gained approval from the Recombinant DNA Advisory Committee (RAC) in its quest to begin a human clinical trial for another childhood neurodegenerative disease called GAN.

This year, Taylor’s Tale also welcomed new board members. Our first- and second-year board members have made an incredible impact on our fight against rare diseases in 2013.

During the five and a half months that I trained to run 13.1 miles blindfolded, I learned more about my sister’s dark world, and myself, than I could have ever imagined. And race day, Nov. 16, is an experience I’ll never forget. No words of mine can describe what happened at the Thunder Road Half Marathon for the fight against rare diseases.

In many ways, 2013 has been the most successful year for Taylor’s Tale since my mom and I founded it with a small but determined group of volunteers in a Charlotte living room seven years ago. We connected with members of Congress and developed contacts with other key individuals. We partnered with a leading patient advocacy organization called the Global Genes Project and were adopted by a wonderful, local philanthropic organization called Playing for Others. We’ve raised more money in other years, but we’ve never extended our reach in such a big way, or had this much excitement surrounding a funded project, or harnessed the power of a great story the way we did with the run…until now.

But while 2013 has been an incredible year for Taylor’s Tale, it has been a difficult year for Taylor in every way. When we founded Taylor’s Tale, my sister was an animated, spunky, running, playing, talking, singing 8-year-old with most of her vision. But Batten disease is a demon. Taylor has a beautiful singing voice, but she can no longer talk. Her two 5K finishes inspired my blindfolded half marathon, but she can no longer walk without assistance, and her wheelchair is on order. My sister taught herself to read before kindergarten and learned Braille after she went blind, but she can’t read or write anymore. My sister can’t use a fork and spoon, because Batten disease stole her fine motor coordination. I can see the sadness in her eyes, even though her eyes can’t see me.

Batten disease has won every battle.

But it will NOT win this war.