When the Eruption is Over

Published: May 23, 2013 ~ 4

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.

Five 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.

Endurance

Published: March 25, 2013 ~ 5

By Laura Edwards

In the days, weeks and months that first followed my little sister’s infantile Batten disease diagnosis, we operated on overdrive. Our determination to win for Taylor fueled our fight. When we looked at her – the golden-haired angel who lost her way in the dark and struggled in math but seemed perfect in every other way – we clawed for a branch or a rock to grasp as our world fell away beneath us and everything we’d ever known – everything we’d ever taken for granted – slipped away.

We were angry; scared; defiant; we knew the facts and the statistics…and still, we dared Batten disease to take Taylor away from us. We gave new meaning to the word “believe.” We rallied friends and family to believe with us. We raised more money than we ever thought possible. We shared Taylor’s story till it reached all the developed continents of the world. We learned more about fatal diseases than we ever wanted to know.

But a second wave always follows the first. The best sprinters in the world can only sprint for so long. And that second wave brought real fear; the kind that isn’t fueled by adrenaline; the kind that comes from knowledge; the kind that doesn’t go away overnight.

This is a journey – not a sprint.

Taylor's first 5K

Batten disease will soon steal Taylor’s ability to walk. But my little sister used to run.

Taylor ran her first race on a chilly December morning in 2008, just 11 months after she endured invasive, experimental brain surgery in a hospital thousands of miles from home. I played cheerleader; an oft-injured soccer player, I didn’t do races.

After watching my little sister run across that finish line, I signed up for my first race.

One year later, I returned to the site of that shared moment to run my first half marathon in her honor.

Tar Heel 10 Miler

Since then, I’ve traded my soccer cleats for running shoes and hit the road for good. Last year, I ran over 1,000 miles – and I took every step for my sister. The way I see it, running is one of the many gifts Taylor gave to me. I don’t drink. I don’t smoke. I tried private therapy, but I didn’t like having to talk about Batten disease at predetermined times. Instead, I spend time with the people I love, I blog, and I run.

So I face this thing called Batten disease each day. It’s a test of endurance. I’ve learned to face it in chunks. I don’t think about a long race in terms of the total number of miles. I think about running a great two miles – or whatever distance lies between each aid station. In the same way, I try to focus on having good days. When I tried to fix everything about Batten disease, I felt like I couldn’t win – for Taylor or for the larger mission of Taylor’s Tale, the non-profit organization we founded in her name. But I figure that if I face “it” in small pieces, I can string together some good days. I can focus on recognizing miracles – both large and small.

It might just be that a “small” miracle is all we need.

I still believe.

Miracles Come in All Shapes and Sizes

Published: March 17, 2013 ~ 2

By Laura Edwards

At some point, most of us have children; though I haven’t arrived there yet, I will. We dream big dreams for our sons and daughters. We expect that they will be born healthy. We don’t expect that their lives will be perfect; we assume that they will get nasty colds and strep throat, bruises and scrapes, and even a few broken bones. We expect that they will be smart and do well in school but that we may have to give them a nudge every once in awhile to remind them to give it their all. We expect that they will grow up to be healthy and strong and fill their lives with whatever it is that will make them happy and make us proud.

But life doesn’t always work that way.

In 2008, a friend and his wife celebrated the birth of their first child, a beautiful boy. Their celebration was interrupted, however, when doctors at the hospital discovered that their son had the very worst congenital heart defect – hypoplastic left heart syndrome. And so, instead of taking their son home, they said goodbye to him as a team put him into a contraption that looked like an infant-sized spaceship and sent him to another hospital in Atlanta – four hours away – that specialized in caring for children with hypoplastic left heart syndrome. Then, they climbed into their car, pointed it south and followed their son’s spaceship to Atlanta, not knowing what awaited them upon their arrival later that night or in their future as a family. Their newborn son had the first of three major heart surgeries during that first stay in Atlanta. Today, he’s a true miracle: a bright, energetic kid with half a heart and a whole lot of love. His future – just like yours – is still unknown. But his present is worth living for.

Thirty-one years ago, a slender 24-year-old gave birth to a nine-pound, four-ounce baby. During the delivery, the baby suffered a severe brain injury. No one knew that at the time, though; it wasn’t until later that the mother noticed that something wasn’t quite “right” about the baby. Then, the seizures started. Before long, a neurosurgeon operated on the baby to place an intracranial shunt. The baby would likely have the shunt for the rest of her life, he said. But the baby caught a staph infection, and the surgeon had to remove the shunt. And for reasons that are still not understood to this day, the baby got better.

That baby was me. I never had to have another shunt, and I never had another seizure. I still have chronic migraines, but I earned good grades in school and had success as an athlete. The neurosurgeon who saved my life still calls me the “miracle baby.”

In 1998, my mom had her third child – my sister. We joked about the easy delivery and recovery. Taylor, the picture of perfect health, came home within days of her birth. Mom – the quintessential overachiever – went back to work the next week. Within months, my sister had the world wrapped around her little finger. By age 3, she could read. She was whip-smart, beautiful and spunky. She was anything but a child with a fatal disease.

And yet…that’s what she had.

In July 2006, our world came crashing down. A geneticist confirmed that a problem with a particular gene out of the 20,000 to 30,000 genes in my sister’s DNA gave her infantile Batten disease.

In the near-seven years since we learned about my “perfect” little sister’s cruel fate, we’ve learned the meaning of small victories – like hearing Taylor laugh or, in more recent months, hearing her speak.

We’ve learned the meaning of living life day by day, rather than year by year…because we can’t count on next year.

We’ve learned to live for small miracles – such as my sister’s 5K race finishes or the true friends who’ve never left her side.

We’ve learned that nothing in life can be taken for granted.

Water-Logged

Published: February 22, 2013 ~ 2

By Laura Edwards

At 7:30 tomorrow morning, my hometown should be drenched in a cold, steady rain. I’ll be on the south side of town with 619 other soaked nuts, running the Charlotte 10 Miler in Taylor’s honor for the second straight year.

Last year, we got a blue sky and just enough of a winter chill to cut through my long-sleeved tech shirt – good for some lung burn on the nasty hill at mile eight, but not too much to bear.

This year, I might have lakes in my shoes by mile two. So while the kicks I’ll call into service for this race cost more than some of my designer heels when I bought them, they’ve pounded more than 500 miles of asphalt roads, concrete sidewalks and pit gravel tracks; I’ll leave the shiny, new, broken-in-just-enough pair in my closet at home. I haven’t decided if I’ll expose my iPhone – keeper of my special music playlist – to the elements. And if that isn’t enough to throw me out of whack, I had a third surgery on my nose – I obliterated it playing soccer almost three years ago – last month and had to put a short hold on my training.

Needless to say, I don’t know if I’ll set a new PR tomorrow.

But this running thing, I’ve learned, is all about making adjustments; it’s about knowing how to perform even when the elements you can’t control – from the weather to your own body – deal you a wild card. A soccer player turned distance runner who didn’t enter a race till I turned 25, I made a living on the soccer field by being faster than everyone else. I set up shop on the sideline and went up and down, down and up, for 90 minutes, every game. While I miss soccer – I reached my limit for surgeries induced by the sport – I love how the sport of running can be a journey. I can stick my ear buds in my ears, lace up my shoes, run down my driveway with my house at my back and just wait for the path – and the world – to come to me.

Life is a little like that, too – and in a weird, roundabout way, so is our fight against Batten disease. I had no inkling of Batten disease until the moment my mom called me in tears on the morning of July 24, 2006 – the day of Taylor’s diagnosis. I was 24 years old that day; I was one month into my marriage and eight months into a new job; I’d recently bought a house; I was writing a novel. I had a very specific plan for my life, and I didn’t think anyone – or anything – could get in my way. But Batten disease forced me to make tough choices. It forced me to take a few detours. Batten disease was bigger – and more awful – than anything I’d ever faced.

We’ve all taken more than a few hits since that day in 2006, but we’ve won some big races, too. And the best part is, we’re still running – most of all Taylor. My favorite quote of all time is one by Cindy Smith, whose son, Brandon, passed away in 2009 after a courageous battle with infantile Batten disease. Cindy said that “Life is not waiting for the storm to pass. It’s learning to dance in the rain.” And just as Brandon taught his family to dance in the rain, Taylor has taught me to keep going on not only the best, but also the worst of days. So you’d better believe that I’ll keep running – on roads, sidewalks, tracks and in this fight for children like Brandon and Taylor – for as long as I’ve got legs for running and heart for fighting.

p.s if you’re half as crazy as me and live in the Charlotte area, come on out to the finish line of the Charlotte 10 Miler around 8:45 tomorrow morning. I’ll be the one in Taylor’s Tale purple and the water-logged, no-tread shoes.

Twelve Reasons to Believe: Fellow Believers

Published: December 15, 2012 ~ 0

By Laura Edwards

The following is second in a twelve-post series.

Day One of our journey fell on July 24, 2006 – the day a geneticist delivered the crushing news that Taylor has infantile Batten disease. The doctor told my parents nothing could be done. His words fell on deaf ears; on Day One, my family vowed to fight until we had nothing left.

On Day Two, we discovered we couldn’t do it alone.

A few months later, my mom and I founded Taylor’s Tale with a group of fellow believers in a friend’s living room.

Since that day, we’ve become a household name in the worldwide fight against Batten disease and an important voice in the rare disease community.

The road hasn’t been without twists and turns. We’ve run into our fair share of roadblocks and taken a few detours. We’ve picked up more than a few bumps and bruises along the way.

But we have several exciting projects on the horizon and a great team in place to bring them to fruition. And if we stay true to our never-quit philosophy, continue to surround ourselves with fellow believers and are fortunate enough to stumble upon a bit of good luck, we can change the world.

Yesterday, Mom and I spent the day with fellow believers Judy Mayer (who took over public awareness chair duties for me this fall) and Jane Grosse, our fund development chair.

Running for Taylor on 11-17-12

Published: October 29, 2012 ~ 0

By Laura Edwards

For as long as I can remember, I’ve run to deal with pain.

Since Taylor’s infantile Batten disease diagnosis in July 2006, I’ve run a lot – on average, more than 1,000 miles a year. Running doesn’t give me solace – not exactly, anyway – and besides, my feet can’t carry my sister to survival. But it’s a lot cheaper than counseling and massage therapy and once-in-a-lifetime trips to faraway wonderlands – all of which have also contributed their fair share to my survival over the years. And running clears my head. It helps me feel alive. It makes me appreciate my (mostly) healthy body – for instance, two eyes to drink in the amber, gold and crimson leaves and powder blue sky that framed last weekend’s run and two legs to carry me over a never-ending course that goes wherever I tell it to go and stops only when I want to rest.

I played soccer all my life, and I always had running in my bones, but I didn’t run in my first organized distance race until five years ago. Around that same time, my sister, Taylor, signed up for Girls on the Run at her school. Blind and less than a year removed from major brain surgery, Taylor nonetheless went to practice with the other girls and walked or ran her laps every day after school. Near the end of the semester, a crowd of kids joined in as she finished the final laps of her practice 5K. And that December, Taylor and her running buddy, joined by a simple jump rope, ran the entire length of the Jingle Jog 5K in uptown Charlotte without stopping even once to rest. Five months later, they did it again in the Girls on the Run 5K.

Since watching my little sister cross the finish lines of those races nearly four years ago, I’ve run every last mile for her.

On Saturday, Nov. 17, I’ll run in Charlotte’s Thunder Road Half Marathon for the fourth time. Last year, I had surgery the morning before the race and couldn’t run. I’ve had a light year so far in 2012 – the Charlotte 10 Miler and Frostbite 10K in February and the Tar Heel 10 Miler and ourboys 10K in April. So I’m hoping to finish with a bang at Thunder Road.

Thunder Road is Charlotte’s biggest race of the year, so if you’re a runner and live in the area, chances are, you’re signed up too! If so, and if you’re interested in running in Taylor’s honor/for Taylor’s Tale, please let me know ASAP. If you’re not running but want to come out that morning and cheer on the runners, simply click on the link above to access a course map – then be on the lookout for the girl decked out in Taylor’s Tale purple. 🙂 And – if you’re so inclined – you can make a tax-deductible donation to our Miles to a Miracle campaign in Taylor’s honor by clicking here. All proceeds support the search for a therapeutic treatment for Batten disease.

We’ve made a ton of progress in the race to save children like Taylor. Thanks for helping us get to the ultimate finish line!

The Price of Life

Published: July 17, 2012 ~ 2

By Laura Edwards

On July 24, 2006, we learned that my little sister, Taylor, has infantile Batten disease.

Since that tearful day, the hardest thing to face has been the disease itself – its methodical way of robbing my sister of everything that once shaped a life that seemed incredibly promising and bright, and the knowledge that all children born with Batten disease die from Batten disease.

Over the past six years, the second hardest thing to face has been the gauntlet that is the world of rare disease research – and struggling to maintain the resolve required to fight for the lives of children like Taylor (a fight that grows more difficult with each day as Taylor’s own light begins to fade).

Since 2007, Taylor’s Tale, the 501(c)3 non-profit organization my family and close friends founded to help give children like Taylor and families like our own a chance to believe, has raised close to $350,000 for the fight against infantile Batten disease. Those funds – the vast majority of which were donated by individuals during an economic downturn – contributed to the development of an enzyme called PPT1 in a lab in Texas (children who lack or are severely deficient in PPT1 have infantile Batten disease); helped support a mouse colony in London; backed important research at other institutions and, in general, helped spark new interest in infantile Batten disease research among the scientific community. We’ve witnessed incredible progress.

But we still don’t have a treatment. Taylor swallows 24 pills a day and goes to multiple therapy appointments. The pills and the therapies address her symptoms – to some extent – but they don’t touch the disease, which continues to take bits and pieces of her away from us.

About a year ago, we talked with an exciting, young gene therapy expert who has taken a disease similar to Batten disease to the brink of clinical trial. He laid out a plan for our disease; he told us how much it would cost and how long it would take him to do the work.

He could do the initial work for $150,000. From start to finish, the project would cost $3-5 million over approximately three years. He told us he’d be ready to deliver treatment to real kids (not mice, dogs or monkeys) by the first quarter of 2016 – just over three years from now.

I get excited about this expert’s work, but then I hear well-meaning would-be donors’ unspoken words in my head.

“Several million dollars just to get to clinical trial? That’s a lot of money. And for so few children. It’s a really good cause, but if it wasn’t so rare…”

The June issue of Reader’s Digest published a list* of studies and programs funded by federal tax dollars – and the requisite price tags. Here are my favorites:

International Center for the History of Electronic Games for video game preservation – $113,227
Columbia University online dating study – $606,000
Wellesley College study that asked the question, “Do you trust your Twitter feed?” – $492,005
Virginia Commonwealth University study on hookah smoking by Jordanian students – $55,382
University of California Riverside study on whether happy or unhappy people spend more time on social media sites – $198,195
Primate researchers studying (in part) what feces-throwing among chimps reveals about communication skills – $592,527
National Science Foundation study on Women, Weaving, and Wool in Iceland, in the years AD 874 to 1800 – $338,998

In all, these seven studies cost $2,396,334 – about half the proposed cost to develop a life-saving treatment for children with a fatal disease that has no cure.

This Thursday marks the beginning of the 25th annual Batten Disease Support & Research Association (BDSRA) conference – a gathering of affected families and the world’s leading experts. There are many things about the conference that are difficult for me – it is hard to be around so many affected children, and the event has never been for me what it is for many families – an opportunity to spend time with others who understand our battle. For my mom and me, the conference has always singularly been about connecting with researchers and others who could help us get closer to achieving our dream of finding answers for children like Taylor. I’ve never been to any of the programs for siblings; I use “free” time to pick the brains of PhDs and MD PhDs in empty conference rooms or the bar. And every summer, I’ve marveled at the progress that the experts dedicated to Batten disease have been able to make with the support of relatively few resources.

But this will be our sixth conference, and we still don’t have a treatment for children like Taylor. I remind myself to be logical – that science moves at its own pace; that six years is not a long time in the world of rare disease research.

And then I hear that we could save some of the children I’ll see this weekend – maybe not my own sister (nearly 14), but others, plus many others in the future, for a couple of million dollars. And I wonder why, if we can spend $338,998 studying the weaving habits of Icelandic women who lived more than 1,100 years ago, we wouldn’t jump at the chance to spend less than half that to kick-start a study that could save the lives of children living NOW – and children yet to be born? And if we can spend nearly $2.4 million in federal funds on seven studies that don’t save lives, wouldn’t we be willing to spend just a little bit more to save the life of even one child – let alone hundreds or thousands?

*Wastebook 2011, produced by Sen. Tom Coburn

Shelter from the Storms

Published: June 11, 2012 ~ 0

By Laura Edwards

The sixth anniversary of my sister’s diagnosis is in six weeks. I still don’t know it all, but I’ve managed to learn a few things in the past six years:

The secret to life isn’t waiting for the storm to pass; it’s learning to dance in the rain (borrowed from Cindy Smith, who lost her son to infantile Batten disease but never lost her resolve against the monster that robbed her).
Even the strongest storms are followed by rays of sunlight, however fleeting.
People – really GOOD people – provide shelter from the storms when the rain beats down and the punishing winds grow unbearable.

I am incredibly grateful for the GOOD people in my life – the people who’ve dared to believe with us. Without them, we’d be lost.

Trading Punches

Published: April 14, 2012 ~ 2

By Laura Edwards

Tonight, Donya – the mother of a 4-year-old little girl – posted the following message on our Facebook page:

I am the mother of Ali, whom is 4 years old. she was diagnosed with Infantile Battens on July 15, 2011. I am writing to you to express my sincere gratitude for all you efforts in raising funds for research with Battens disease. I often feel great despair as i am a single mom trying to raise funds & awareness as to the impact i am making. I praise the Lord as i read all the great discoveries that you have funded for this disease. This gives me great HOPE & i am so thankful for Taylors Tale! God bless you for bringing us one step closer to the CURE waiting to be found!

I don’t believe any two experiences are identical, but nearly six years after Taylor’s diagnosis, I still remember the emotions I battled on a daily basis as I struggled to comprehend our tragedy – and how quickly and dramatically our world shrank as we searched for other families that understood – or at least had the ability to offer some semblance of a map for the dark, cruel world into which we’d fallen overnight.

Six years isn’t a very long time in most cases, but it’s a long time to fight Batten disease, because fighting Batten disease is like getting up every morning, heading straight into a fistfight, losing badly, standing up slowly, staggering into the corner, slumping down on the stool for a quick rest and then stumbling back into the middle of the ring to do it all over again. It’s crazy. But we do it – I do it – out of hope that every once in awhile, I’ll get in a good lick or two, and maybe – just maybe – when I’m all bruised and bloodied, I’ll manage to land a surprise haymaker and take down the disease that dared to take my sister away from me.

Donya, thank you for sharing the impact Taylor’s Tale has had on your own very personal fight with Batten disease. Just five short years before your daughter’s diagnosis, my family received the same shocking diagnosis of infantile Batten disease. The doctor said that nothing could be done and sent us home to make happy memories with my little sister while we still could. But that wasn’t good enough for us.

I’ve taken a lot of shots over the past six years; the road ahead will be more difficult than any I’ve traveled before – and I still haven’t landed that haymaker. But I don’t want any child or family to have to settle for a world in which there are no answers, and as long as I’m still standing, I’ll keep fighting on behalf of children like Ali and Taylor!