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

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 →


2013: The Memories

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.

Grandma Kathryn and Taylor

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.

group at Rare Disease Day event

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.

playathon

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.

Fletcher cardiofunk event

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.

blindfold

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.

NIH speech

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.

Chapel Hill visit

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.

the finish line

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.

Taylor with medal


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!


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.