First Day of High School

Published: August 27, 2012 ~ 6

By Laura Edwards

Tomorrow is Taylor’s first day of high school.

Ever since we first heard the words “Batten disease” six summers ago, Taylor has attended a small, private school, a school that gave my sister its heart and won mine.

Tomorrow, she’ll be a ninth grader at a huge public high school.

I’ll never forget my first day of ninth grade.

I went to a magnet elementary school for seven years and developed bonds that I haven’t lost to this day. But most of my elementary school friends went to different middle schools, and I spent the better part of the next two years making new friends. The end of my eighth grade year forced another round of goodbyes, as the dividing line for two rival high schools went straight down the next neighborhood over. And all of my middle school friends went to the other high school.

When my parents pulled into the traffic circle at the big high school on the morning of my first day as a ninth grader, I didn’t want to get out of the car…but I eventually did (with some coaxing). And after my first class – freshman English – I didn’t want to go to second period out of fear that I’d have to walk the halls alone. When the bell rang at the end of second period, I sat glued to my seat, my limbs frozen; lunch came next, and the cafeteria – teeming with kids who all seemed to have found a crowd three hours into the new school year, terrified me most of all. I peeled myself out of my desk chair only after I saw the teacher peering at me over a stack of books and papers in her arms as she shuffled for the door and looked for a free hand to turn out the light.

I’ll never forget the roller coaster sensation that rocked my insides as I walked into the crowded cafeteria and found my way to the pizza line, just as I’ll never forget the über-popular girl who invited me to sit at her table. From that moment, I survived ninth grade. I made the soccer team, enjoyed my classes (sort of), found niches in writing and art, discovered new friends and reconnected with old ones. I went on to have an incredible four years in high school. I never ate lunch with that girl again. But I never forgot what she did for me.

Taylor’s high school experience will be very different from mine. She won’t go to class every day. She won’t try out for the soccer team. She won’t follow in my footsteps and write for the school paper or chair the art honor society. She won’t see the smiles of the good people who do things to help her experience something perfectly normal like high school, at least in some small way. She may not have four years.

When I was Taylor’s age – once I got past my initial, supremely introverted nervousness – I always had my mind on the next big thing. When I played soccer on a high school field, I dreamed of playing for the national team. When I drew pictures, I dreamed of drawing for Disney. When I wrote, I dreamed of writing the next great American novel. When I made a new friend, I wanted to make more. Sometimes now, I look back and wonder if I missed little things happening in the present because I was so focused on the future.

Taylor doesn’t have that luxury.

I used to have big dreams for my little sister.

I still do.

I just had to adjust them a bit.

I hope Taylor has a good first day of ninth grade at her new school.

I hope she smiles and laughs.

I hope her new friends – both young and old – see how beautiful she is, both inside and out.

I hope she knows how much I love her.

Sisters

Published: August 12, 2012 ~ 0

By Laura Edwards

Taylor will celebrate her 14th birthday on August 19 – one week from today.

My little sister’s life began during the first week of my junior year of high school. I was 16 years old. I didn’t bother leaving soccer practice to see her at the hospital. I already had an annoying 11-year-old little brother, and I didn’t want a little sister.

I fell in love with Taylor the moment Mom and Dad brought her home; we became fast friends.

She helped me with my homework.

She put up with my bear hugs.

We worked on our tans together.

She won the biggest fan award on my college graduation day.

She was the best senior flower girl ever.

She rocked a stuffed chipmunk head for an entire day at Disney World, because Chip and Dale are my favorite Disney characters.

She took me to my first Cheetah Girls concert.

She helped me paint the rock at her school in her favorite colors – purple and pink – for her half-birthday just over a month after she had major brain surgery.

She gave me an excuse to trick-or-treat on Halloween long after I outgrew trick-or-treating.

She thinks NBA players who used to play for the North Carolina Tar Heels are cool, because that’s her sister’s team.

She gave her big sister – a lifelong runner – a greater purpose for all those miles.

She gave new meaning to laughter – and love.

Dr. Seuss once said, “Don’t cry because it’s over. Smile because it happened.”

I’ll never be ready for it to be over.

Atypical Situation

Published: July 30, 2012 ~ 0

By Laura Edwards

Hope Solo, a fixture on the US women’s national soccer team, makes headlines for her fiery personality almost as often as she does for being one of the world’s best goalkeepers. Today, she refused to back down from tweets she made Saturday criticizing Brandi Chastain, a commentator covering the Olympics for NBC.

I grew up playing soccer. In my eyes, Brandi Chastain is not a sports broadcaster but rather the primal screaming, sports bra-baring hero of the 1999 Women’s World Cup final. Chastain scored the shootout goal that beat China for the title in front of more than 90,000 people in the Rose Bowl. The next morning, after reading the newspaper, I cut out the iconic images of the game and made a collage that hung in my room until I got married nearly seven years later.

Before that legendary match, the US had to win other games to get to Pasadena. The quarterfinal against Germany took place in the Washington, DC area. Just a few days before the game, Dad got three tickets. To this day, I don’t know how or where he got the tickets or how much he paid for them. Dad told my brother and me we’d have to drive to the 7 p.m. game that day and drive back to our home in Charlotte, NC that same night – almost 1,000 miles total.

We didn’t stay very long to celebrate after the win; we got back on the road by 11. I was 17 years old that summer, and Dad asked me if I wanted to start out behind the wheel. I thought we’d take turns driving, but Dad and my brother passed out before we even reached the highway.

I drove all the way back to Charlotte without stopping even once. I kept the highway between my thumbs; I listened to the same song, “Typical Situation” by Dave Matthews Band, on repeat for hours and at a volume that should have kept my dad and brother awake but didn’t; I rode the adrenaline high of an amazing win by our country and an experience I would never forget.

My sister, Taylor, will be 14 in a few weeks; in a few short years, she will be the same age I was on that magical night in DC.

At Taylor’s age, I idolized the women’s national soccer team. I wore the jersey in my dreams and scored on invisible opponents on empty fields for hours on end in real life.

Sometimes, I wonder what Taylor dreams about now. I wish she could tell me. I wish I could give her everything.

Neuronal Ceroid Lipofuscinosis

Published: July 24, 2012 ~ 0

By Laura Edwards

I hate July 24.

On June 3, 2006, my grandparents hosted my wedding shower at their house in Wake Forest, NC. It was the first day of the happiest seven weeks of my life. At the time, I had no way of knowing that it would be the next-to-last time that I would have my entire family and my closest friends together for a happy occasion (my wedding would be the last). We grilled burgers and chicken and dined on card tables set up on the lawn behind Grandma Kathryn’s beloved back porch. The sun sank beneath the horizon about the time John and I opened the last gift and my grandfather polished off the last piece of cake; my little sister, Taylor, and our cousin, Morgan, hung Hawaiian leis around their necks and chased fireflies across the grass, their bare shoulders bathed in the soft moonlight and their laughter in our ears.

On June 24, I married my best friend from high school in a beautiful inn famous for its lush gardens in the mountains of North Carolina. Taylor and Morgan ruled the tiny, makeshift dance floor in the inn’s parlor after the ceremony.

On July 24, my husband and I wished each other a happy one-month wedding anniversary, kissed each other goodbye and headed our separate ways for work. As I drove to the office under a clear blue sky, I thanked God for all the gifts He had given me. I was newly married to my best friend and had an amazing family, a great job and even a promising novel in the works. I felt invincible.

A few minutes after 10 that morning, I hit ‘save’ on a press release to take a call from my mother.

I can’t remember much of what Mom said to me. I don’t know how much I heard over the loud ringing that filled my ears after she said the words “neuronal ceroid lipofuscinosis” in reference to Taylor. I remember, with my sobbing mother still on the phone, Googling that phrase with trembling fingers and crumpling into my chair like a crushed soda can when I read the summaries listed with the search results until my eyes filled with tears and I couldn’t read any longer. The words and phrases shot off the screen and straight into me like icy daggers, each one more awful than the last:

Rare.

Inherited.

Progressive.

Seizures.

Motor deterioration.

Cognitive deterioration.

Blindness.

No treatment.

No cure.

Early death.

I don’t remember the rest of that phone call, but I will remember July 24, 2006 for as long as I live.

Taylor doesn’t chase fireflies in the moonlight anymore, but I will never forget the innocent beauty of that night she shared with our cousin, Morgan, before a sleeping genetic defect awoke from its seven-year slumber and began its systematic destruction of a life with great promise.

I no longer need Google to tell me what neuronal ceroid lipofuscinosis – or Batten disease – does to a child like Taylor. I’m an expert on a disorder I never wanted to know. I’ve spent time with the world’s greatest Batten disease scientists. I’ve seen it unfold in real life. I’ve watched it wreak havoc on my sister. I’ve seen the names of children I know added to the list of “Batten angels.”

I declared two wars on Batten disease on July 24, 2006 – the war for my little sister, and the war to end Batten disease forever.

Batten disease is winning the war for my little sister. It’s had six long years to do its dark work.

As I’ve watched how Taylor has faced her disease, I’ve realized one thing that gives me satisfaction, if not true solace:

Batten disease may have the power to destroy a life with great promise.

But it can never destroy a heart with great love.

Dance with Me

Published: July 22, 2012 ~ 0

By Laura Edwards

Five years ago, just days shy of the one-year anniversary of my little sister’s diagnosis, Mom and I flew to Rochester, NY for our first Batten Disease Support & Research Association annual conference. The airport shuttle dropped us off in a parking garage beneath the hotel, and we rode an escalator up to the lobby.

I will never forget the moment we stepped off that escalator into a sea of children strapped into wheelchairs with ugly IV bags and feeding tubes and beautiful yet broken eyes. Right then, standing in that lobby, more than 700 miles from my golden-haired, caramel-eyed sister with the sharp wit, sassy smile and broken gene, Mom turned, hid her face against my shoulder, willed herself not to cry and willed Taylor’s fate not to deliver on its horrible promise. That day, Mom vowed to never take Taylor to a BDSRA conference.

This year, the conference came to our hometown of Charlotte, NC. Affected children and their families and scientific and medical experts from all over the world spent four days in a hotel just a 10-minute drive from my parents’ neighborhood. But still, Mom held true to the vow she made in that hotel lobby in Rochester at the dawn of our journey.

The BDSRA conference always includes a Saturday night banquet that begins with a procession of affected children into the hotel’s ballroom followed by a dance (siblings dance to raise money for BDSRA, and others get in on the fun). I didn’t dance last night, even though I’m a sibling and my husband and dad joined Mom and me at the banquet. Instead, when I wasn’t working with a good friend there to film a video for Taylor’s Tale, I stood on the edge of the parquet dance floor and watched. I thought about how much Taylor, at home with a respite care worker, would have loved the dancing part of the banquet. I smiled at the memory of our friend Callie’s wedding in May, when Mom, Dad and Taylor ruled a small corner of the beach house’s dance floor, and smiled even more broadly at the image of my sister and my cousin Morgan in their matching flower girl dresses, twirling around the foyer of the Inn at Ragged Gardens at my own wedding exactly one month to the day before Taylor’s diagnosis.

As I watched, I noticed Emily, a beautiful, blonde angel of a little girl, ruling the dance floor much as Taylor did at her age. As my gaze followed Emily’s twirls and jumps and spins, it landed on her father, Tracy. In that moment, Tracy rocked to a much slower song than the one that played from the DJ’s speakers. He held Emily’s affected twin sister, Laine, in his arms.

I hate, hate, hate this disease.

That’s all.

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

Cape Fear River Sky

Published: July 5, 2012 ~ 2

By Laura Edwards

My grandparents used to own a beach house on Oak Island, a finger of land at the southern tip of North Carolina. Nearly every summer, we spent Fourth of July week on the island; on the Fourth, my family and extended family packed an enormous picnic, piled into cars, drove across the Intracoastal Waterway and its marshy shores and into Southport – a town built where the Cape Fear River meets the Atlantic Ocean. We spread our quilts on the soft grass in front of the pier, watched the boats drift by and filled our bellies. As the evening wore on, the crowd around us on the lawn grew larger. My younger brother and I usually picked our way through the other blankets to the pier to buy snow cones and glow-necklaces before the sun sank beneath the horizon. And when the last rays of sunlight finally faded to darkness, the fireworks began.

My grandparents sold the beach house right around the time Taylor was born. I’ve been back to the island several times since then, and on each visit, I drove past the house. It felt strange seeing someone else’s memories (shells, driftwood), perched on the porch railing. I’ve been back to Southport, but not for the Fourth. In fact, it’s been nearly 15 years since I last saw the sky over the Cape Fear River lit up by sparkling streaks of red, blue, green, purple, orange, yellow, silver and gold. We’ve had to make new memories. But the image of that sky in my mind is just as clear as if I witnessed it yesterday.

Last night, we spent the Fourth of July at my parents’ house, more than 200 miles from our Cape Fear River sky. We had a much smaller crowd and different scenery, but we had amazing food and, afterward, our own fireworks show. Taylor sat in a golf chair and clapped each time Dad shot a Roman candle or bottle rocket into the night. As they exploded over the front yard, I called out the colors, one by one, to my blind sister.

sparklers

We are the “They”

Published: June 20, 2012 ~ 0

By Laura Edwards

Today’s edition of the Boston Globe features a story about patients’ and patient advocates’ growing impact on drug development as pharmaceutical companies and the FDA respond to demands.

Every paragraph spoke to me. Every reference contained some connection to our own battle with Batten disease. Every word said, this is your story.

A Texas energy executive and a New York financial services executive, both fathers of sons with hemophilia, launched a biotechnology firm focused on a cure for the bleeding disorder because they grew frustrated with the lack of options for their children.

In 2008, 100 yards from my parents’ house, near the end of an hour-long walk fueled by passion for a treatment we could reach out and touch in our dreams but couldn’t fathom in real life, my mom and I made the decision to turn our steering committee with a couple of successful fundraisers, a website, a blog and a small group of dedicated volunteers into the non-profit organization known today as Taylor’s Tale, because we wanted more for children like my little sister.

The Michael J. Fox Foundation for Parkinson’s Research – mentioned a few paragraphs later in the Globe article – served as inspiration at a recent meeting of the board of directors of Taylor’s Tale – still fighting for kids like Taylor in 2012.

In the mid-1990s, Pat Furlong lost her two sons to Duchenne muscular dystrophy. Not long after their diagnosis, she borrowed $100,000 to finance research, posed as a doctor to get face time with Duchenne muscular dystrophy experts and pleaded her case with drug company execs.

Pat Furlong and my mom, Sharon, have a lot in common. They share the same vision. They have the same fearlessness. The same bulldog mentality. In the past several years, my mom has turned to Furlong more than once for advice.

One of the drug companies mentioned in the article, Genzyme, developed a drug ignited by a father who wanted desperately to save his children from Pompe disease – and would stop at nothing to succeed. The father is John Crowley; his story is chronicled by former Globe writer Geeta Anand in the book “The Cure” and, later, the movie “Extraordinary Measures.” At the first meeting of the steering committee that eventually became Taylor’s Tale, my mom gave a copy of “The Cure” to each of the women seated around the room. She gave us two assignments that day: to read the book, and to fight with her, no matter how tough the road might seem; because she believed, she hoped we could believe, too.

I posted a link to another interesting article – this from the Chicago Tribune – on our Facebook page last month. This story focused on parents of children with giant axonal neuropathy (GAN) who hired researchers to develop a treatment. Like Batten disease, GAN is a neurodegenerative disease – though it is far more rare (only 25-30 known cases worldwide, compared with at least 500 known cases of Batten disease in the United States alone). And yet these parents succeeded in raising enough money to put researchers on track for human clinical trial in the near future.

The Tribune article contained a quote from one of the GAN parents that has stayed with me since the moment I read it. In the six years since Taylor’s diagnosis, I’ve never heard anyone describe the existence of the close family member of someone with a rare disease so well:

“After Ethan was diagnosed, people would say to us, ‘Don’t worry, they’ll find a cure,'” Tkalec said. “And I’d say, ‘You don’t understand … there is no ‘they.’ We are the ‘they.'”

She’s right – we are the “they.” For as grateful as I am for the support we’ve received over the years – from building our non-profit organization to supporting it to offering friendship and, on rough days, a shoulder to cry on – I know that ultimately, this fight is ours to fight; that if we don’t fight, no one will. That the minute we stop fighting – the minute we stop believing – that’s when the mountain will become insurmountable.

Big Damn Fish

Published: June 19, 2012 ~ 0

By Laura Edwards

I’ve never been a huge fan of fishing; I don’t have the patience. I can’t stand it when I go long stretches of time without a bite or – worse – when a fish steals my bait. I like chilling on boats and beaches and riverbanks, losing myself in a good book or good conversation or simply soaking up the sunshine while other people fish.

Taylor has more patience than me – and more of a knack for fishing, apparently. My parents took my little sister out to a friend’s farm in a neighboring county late this afternoon and let her drop a hook in a stocked pond. Her catches grew more impressive as the shadows lengthened.

Fighting Batten disease, I’ve learned, is kind of like fishing. I have to be patient. If I spend too much time distracted by other things, I won’t be rewarded with progress. I have to keep an eye on the bobber. If I don’t, all of the fish might get away (and steal my bait!). But I’ve also learned that life, like fishing, isn’t fun if it’s all work and no play; if I’m 100 percent focused on the bobber all the time and never allow myself to look away – to read a page in my book or share in good conversation or soak up some rays from the sun – I’ll get burned out; I might learn to HATE fishing; and I might just let the big damn fish – the one fish we really want – get away for good.