Today, We Win

By Laura Edwards

Today, I tuned into a live webcast of the Recombinant DNA Advisory Committee (RAC) ‘s discussion of gene therapy for giant axonal neuropathy (GAN) on the NIH campus in Washington. The RAC meeting was a big step in the approval process for the GAN work funded by our friends at Hannah’s Hope Fund to make it to human clinical trial later this year; it’s also very important for the Batten disease work Taylor’s Tale is co-funding at the University of North Carolina Gene Therapy Center, because our project is based on the GAN studies.

On that webcast, I watched two amazing scientists explain the science behind their work, answer tough questions and make a strong case for moving forward. I’ve met a lot of experts in the near-seven years since we started this fight, but I know without a doubt that people with GAN and infantile and late infantile Batten disease have two of the best working for them at UNC. Dr . Jude Samulski and Dr. Steven Gray are fantastic scientists, and they understand the world of families like mine. Kids like Hannah and Taylor are in their minds when they’re in the lab, and I think that’s part of what drives them to be so good at what they do.

I also watched two women who are incredible advocates, fundraisers and, yes – mothers – deliver speeches I will never forget. I’ve met a lot of mothers, but I don’t think a rare disease has ever met a tougher opponent than Lori Sames or Sharon King. Though my mom and Lori, Hannah’s mom and founder of Hannah’s Hope Fund, are different in many ways, they are similar in that they looked their child’s rare disease with no known treatment in the face and said, “You will NOT defeat me. I will NOT sit back and let you take my child without a fight.” They refused to “live everyday with the knowledge that the consequence of doing nothing is sure and certain death.” And because of the choice they made, people like Hannah and Taylor have a light at the end of the tunnel.

…live everyday with the knowledge that the consequence of doing nothing is sure and certain death.

I feel honored and privileged to know and work with all of these amazing people. Big things are in store because of their wisdom, dedication and courage. I am saddened by the reality of my own sister’s decline but inspired by the possibilities for the future and our potential to help build a better world for people with genetic diseases. Today, the RAC committee granted our friends approval to march forward in their quest to launch the first human clinical trial for GAN later this year. You can be sure that we’ll be working to make certain Batten disease is not far behind.

I believe!

Run to the Light

By Laura Edwards

My little sister, Taylor, has Batten disease. But that didn’t stop her from signing up for Girls on the Run in the fall of 2008, at the start of her fifth grade year at The Fletcher School. The degenerative disease had already stolen her vision and made it difficult for her to learn new things, but more than anything, Taylor wanted to be a normal kid, and she dared Batten disease to get in her way.

In the afternoons after school, Taylor and her girlfriends met at the track for practice. They developed good fitness habits and learned about teamwork, and they learned to believe in themselves. An upper school student named Mary-Kate stayed after school to practice with the younger girls. When it came time to walk or run around the track, she and Taylor each took one end of a modified jump rope – my sister’s lifeline to a normal experience she desperately craved.

At the last practice of the semester, the girls ran a “practice” 5K around the school track. All of the other girls finished their laps before Taylor and Mary-Kate. Then, as the pair rounded the corner and began their final lap, something magical happened. One by one, everyone on the sideline joined my sister and her sighted guide on the track. Soon, the whole team, plus the coaches and others there to watch the practice, fell into stride with my sister and ran her final lap with her. Girls on the Run Founder Molly Barker happened to be on campus that day to watch practice and meet the girls; she captured this incredible moment in a story for North Carolina’s Endurance Magazine that Gap Inc. also featured in a national campaign last year.

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The team’s first REAL race took place on a chilly morning that December at the Jingle Jog 5K, run on the streets of uptown Charlotte in conjunction with the Thunder Road Marathon and Half Marathon. Mary-Kate told us that Taylor stumbled and fell several times on the course, but that after each fall, she pulled herself up, said she could keep running, and did just that. The tethered pair finished the race in just under an hour. They didn’t run fast enough to win an official award, but watching them cross that finish line remains one of the most moving things I’ve ever witnessed. In that moment, I realized that I could never, EVER give up on my sister or my fight against Batten disease. And when the trees bloomed that next spring, I started running for her.

Taylor and Laura after the Jingle Jog 5K in 2008

Taylor was all smiles after the Jingle Jog 5K in 2008.

I’ve run thousands of miles for Taylor since that day at the finish line of the Jingle Jog 5K. I run the Thunder Road Half Marathon every year and run various other races in Charlotte and elsewhere, from 5Ks to 10 milers, and I’ve shaved more than 30 minutes off my half marathon time since my first go at the 13.1 distance in 2009. But I’ve never come close to achieving the kind of feat my sister accomplished, because I’ve run every race with the benefit of my vision. That’s why, to honor the five-year anniversary of her incredible achievement, I plan to run the 2013 Thunder Road Half Marathon blindfolded. 

I’ll be tethered to my good friend, Andrew Swistak. Andrew is an avid runner and is also on staff at The Fletcher School, where my sister spent six wonderful years and met many guardian angels. I’m grateful to have Andrew’s support as well as the support of the folks at Run For Your Life, who put on the Thunder Road Marathon and Half Marathon.

Andrew will be my sighted guide at the Thunder Road Half Marathon this November.

Andrew will be my sighted guide at the Thunder Road Half Marathon this November.

I’m in half marathon shape now, but I’m not ready to run 13.1 miles – or even 13.1 feet – without my eyes. Have you ever closed your eyes and tried to move around? It’s not easy to run in the dark. I’m in awe of Taylor’s spatial awareness and courage. Andrew and I have some practicing to do between now and Nov. 16, but we’ll be ready.

I’m doing this mainly to raise awareness of Batten disease, but donations to Taylor’s Tale are always greatly appreciated. Currently, Taylor’s Tale and five partners are supporting gene therapy for infantile and late infantile Batten disease at the University of North Carolina Gene Therapy Center. This promising work could lead to treatments for not only rare diseases such as Batten disease, but also more common diseases like Parkinson’s disease, Alzheimer’s disease and ALS (Lou Gehrig’s disease). If all goes well, this work could be ready to go to clinical trial at UNC in just a few years.

Please share this story to help us build awareness! We’re making incredible progress in the fight to save people like Taylor, but we need the support of friends like you to continue to make a difference.

I have a little bit of my sister in me; I believe, and I dare Batten disease to get in my way!

To support my run and our fight to develop treatments for Batten disease and other genetic diseases, click here.

NEW: Join the Taylor’s Tale team at Thunder Road! Click here to register for the marathon, half marathon or 5K. On the second page of registration, under “Event Groups/Teams,” select “Taylor’s Tale” from the list under “Choose an Existing Group.” Run for us to help raise awareness on race day. Stay tuned for more details, including special shirts for team members and an informal post-race event!

running for Taylor

When the Eruption is Over

By Laura Edwards

It is not easy to paint a picture of Batten disease for people who have never seen it before. If you wish to paint with a large brush, you can tell them that children born with Batten disease never survive it; that it is total destruction; like a molten wave of lava and volcanic rock and ash.

Batten disease is not easy for most people to understand, but everyone can see that Taylor is blind. The destruction reached her eyes first. They are still beautiful and rare, the color of the caramel inside a Milky Way bar and framed by impossibly long lashes. But they lost their sparkle long ago.

Mom and Taylor at Crater LakeFive years ago this past January, a clinical trial coordinator brought my sister’s honey blonde hair to us in a Ziploc bag as we waited in a chilly waiting room in Oregon, thousands of miles from our home on the East Coast. Down the hall, a surgeon drilled eight holes into my sister’s skull and gave her hope. Not life, but hope.

For the next several years, my parents and Taylor made frequent return trips to Oregon. Once, they rented a car and drove south to Crater Lake, one of our country’s pristine natural wonders.

More than half a century ago, Freeman Tilden, said to be the grandfather of park interpretation, wrote a text, “Interpreting our Heritage,” that is still used to educate rangers today. One of the essays holds special meaning for us.

The essay, “That Elderly Schoolma’am Nature,” tells the story of a park naturalist meeting a man just inside the rim of Crater Lake. The naturalist can sense that something is different about the visitor from the moment he sees him but only comes to the determination that he is blind after noticing the man’s very dark glasses and putting all of the clues together.

And then, the visitor asks the naturalist to describe the lake to him. But how do you describe one of the world’s most stunning lakes to a man who cannot see?

The naturalist asks the man to take off his gloves, so that he can take his hands and move them around the crater model and describe its shape and depth and skyline and the curious, cone-shaped island in the middle. But how do you describe the blue of its water – a blue that has no equal – to someone who has not seen blue in many long years?

The visitor remembers the blue of the sky from his childhood. The blue of Crater Lake is nothing like the blue of the sky. But in his mind and his heart, he experiences the wonders of Crater Lake more fully than the naturalist could have ever imagined. And as he walks away, the naturalist realizes that the visitor “had extended his power of seeing – which was an achievement beyond price,” and that “We are all of us somewhat blind, even those who believe their eyesight is faultless.”

I love so many things about this story. My dad, who shares my love of national parks, gave a copy of it to Mom and me several years ago, and I’ve held onto it ever since. And my wise mother, who now leads Taylor’s Tale into an exciting future of new partnerships and boundless possibilities, shared Tilden’s essay with me again this week, urging me to apply the story toward our journey in our fight against Batten disease.

“We are all of us somewhat blind, even those who believe their eyesight is faultless.”

Because, as Mom reminded me, we embarked on this journey with our eyes focused directly on beating Batten disease. Our experience, though, has afforded us peripheral vision. We now understand the connection between all rare diseases – so many of which do not have a single approved treatment – and the millions battling for their lives. And just as the park naturalist and the blind man learned from one another, we, as fellow fighters and advocates, can learn from each other and support each other – and by doing so, we can become more efficient and effective. We will never reach our goals if we fight our battles in our own disease silos.

There is a very rare disorder called giant axonal neuropathy, or GAN. It is an inherited, recessive disease that first appears in early childhood. It results in nerve death and quadriplegia, and it is always fatal. The incidence is unknown, but it probably affects fewer than 100 people in the world.

Undeterred by these odds, the family of a little girl named Hannah decided to fight GAN head-on. In  2008, Lori and Matt Sames founded Hannah’s Hope Fund in their daughter’s honor. That same year, Hannah’s Hope began funding gene therapy for GAN at the University of North Carolina Gene Therapy Center under Dr. Steven Gray. The clinical trial is expected to begin later this year.

Two months ago, Taylor’s Tale and five partners announced funding for gene therapy for infantile and late infantile Batten disease at UNC, also under Dr. Gray. Our project is following in the footsteps of the GAN work that is on the brink of clinical trial. And Lori’s fight for her daughter could very well help lead to a treatment for kids like my sister. Dr. Gray plans to use the same gene vector and methods to treat Batten disease. And if the GAN trial is successful, we will, in Lori’s words, “move like wildfire to apply this to the lives of children with Batten.”

“…move like wildfire to apply this to the lives of children with Batten.”

Together, we can reach our goals. There are so many of us in the rare disease community, and there is strength in numbers. That is an advantage, but it is also the saddest thing of all. There are TOO MANY of us. We’ll change that when we play to our strength by finding treatments for people like Hannah and Taylor.

I think about how the landscape in central Oregon must have looked on the day of the volcanic eruption that created the most beautiful lake in the world. I know that many dedicated people, from the team at UNC to those working to ensure that their science is supported, will move like wildfire to outrun the death and destruction of diseases like Batten and GAN.

And every night, when another day’s work is done, I dream about how beautiful the lake can be when the eruption is over.


By Laura Edwards

Thanks to Jennifer VanHoutan, the mother of two children with late infantile Batten disease, for letting me share the following:


Imagine your child tripping over his feet and eventually not being able to walk. Imagine 15 months of your child regressing and no answers as to why?

Imagine seeing over 100 seizures in 2-1/2 years.

Imagine your child swimming one summer but the next summer he is expressionless when you take him into the pool.

Imagine your child being able to play tee-ball and now can no longer hold a ball or bat.

Imagine your child not being able to hug you or say “I love you” anymore.

Imagine your child having no known friends he/she talk about.

Imagine your child never being invited to a classmates birthday party.

Imagine your child singing the “ABCs” and can no longer speak a word.

Imagine your children taking 58 medicines a day.

Imagine your 6 year old having the mind of a 4 month old.

Imagine having only 25% chance per child to pass on a defected gene and it happening to 2 out of 3 of your children.

Imagine something so rare the chances of winning the lottery are better.

Imagine all day your 6 year old needing 100% support and supervision.

Imagine a disease that takes away a childhood and then the child.

Imagine no cure….yet.

As you know, we don’t have to imagine this – this is our reality. As it is for many other families we’ve met during the last 2 years. Our goal today, and for the rest of our lives, is to bring awareness and raise funds to support research for a treatment for a cure. Noah hit every milestone on time until he was 3 and he was a bright kid. Laine still talks, but her speech is regressing and her gait is widening. Emily has a sharp reality as to what is happening to her siblings….can you imagine?


It’s impossible to put a value on the life of even a single child. So while Batten disease is rare, believe this: no child or family should have to face its unimaginable horrors. We can ignore Batten disease, but at what price? Is Noah’s life not worth fighting for? Or Laine’s? Or Taylor’s?

Batten disease changed my life, and I know what it does to children and families in the worst possible way. It’s dragged me to hell and back.

Yes, Batten disease is rare. But look at it this way: there are hundreds of children currently living in the United States alone who will die of some form of Batten disease unless a cure is found first. And that’s not to mention all of the children living across the rest of the world today or, for that matter, the children who haven’t even been born yet, many of whose parents are walking around without the slightest idea that they carry the gene responsible for Batten disease. Like my parents, they won’t find out until they watch their son or daughter experience unexplained deterioration and go on to receive a wrong diagnosis or two or three before finally arriving at the catastrophic conclusion that their child is destined to die young, all because of a mutation on a single gene from out of the thousands upon thousands of genes that make up a human being.

Batten disease is simply too tragic too ignore. In July 2006, my family asked friends for one thing: to believe in miracles. In the beginning, we asked people to believe for Taylor’s sake. Today, I’m asking you to believe for Taylor, but also for Noah, and Laine, and all of the others whose lives are on a cursed ticking clock.

Pray for Daniel

By Laura Edwards

I wrote an article about Daniel Kerner that appeared in our winter e-newsletter. Daniel, who turned 10 years old in January and is battling late infantile Batten disease, and his family have a special place in my heart. Tonight, they need your prayers.

If you don’t receive our e-newsletter, you can read Daniel’s story on the Taylor’s Tale website here.

To Daniel, Joanna, Marc, Lauren, and David – stay strong.

Holding onto Hope

By Laura Edwards

Check out this article on Noah and Laine VanHoutan, a brother and sister pair from the suburban Chicago area who are fighting late infantile Batten disease.

You can cast your vote for the VanHoutans’ video on the Extraordinary Measures movie website’s Inspirational Quilt. Click here to visit the Quilt, then type ‘noah’ in the search box. You can vote everyday! The winning video will win $10,000 to support crucial research.

For Daniel

By Laura Edwards

There is a special place in my heart reserved for a little boy I have never met.

Daniel Kerner is fighting late infantile Batten disease; tomorrow, he will turn 10 years old. His family and closest friends will celebrate this miracle over cake and ice cream more than three thousand miles away from my hometown.
Daniel is an adventurer. He loves to be outdoors – to feel the sun on his face and the wind in his hair. He loves to take walks and visit the ocean. For the past four years, he has celebrated his birthday by tucking into an adaptive bi-ski and skiing with his family. Always the warmest person on the mountain in his warming packs, goose down and assorted equipment and clothing, Daniel loves to fly down the slopes.
Tomorrow, Daniel will not make the trip to nearby Mammoth Mountain; instead, he and his family and friends will celebrate at home. His mom, Joanna, says “there is a run that is very special for Daniel. It starts below the Cornice and drops down into the bowls and crests at the top of Saint Anton.”
Tomorrow, you can make a run for Daniel. If you happen to find yourself at the top of Saint Anton, take in the crisp air and the sky and the snowy landscape around you, and remember that Daniel once skied there on his birthday. Most of you will not be near Mammoth tomorrow, though, so I’d like to ask you instead to make time for something that is special to you. It could be skiing down your own favorite run, jogging beneath the clear blue sky, reading a book, playing music or watching a movie with someone you love. No matter what is closest to your heart, make a place for it on January 13, and do it in honor of Daniel. Remember that each day is a gift.