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.

When Pigs Fly

Published: June 13, 2012 ~ 0

By Laura Edwards

A few minutes before 8 p.m., I shut down my laptop, vowed to ignore all emails for the rest of the night and took my dog, Daisy, on a walk before the last rays of sunshine gave in to darkness.

I didn’t do so well. At 8:09, I got an email from my mom with the subject line “fw: when pigs fly.” Well – wouldn’t YOU read it?

I’m not sure what you expected. But in our world, emails with subject lines like that originate from the desks of incredible scientists and include phrases like “translational research,” “pig model proposal” and “drug absorption.” You see, in our world, Porky the Pig isn’t just a pig. He’s a possible window to new discoveries – to answers for children like Taylor.

The most exciting thing about that email was that it contained a new idea. The craziest thing about that email was that I actually understood most of it – even scrolling through it on an iPhone with a 13-pound Westie tugging on my arm and a noisy lawnmower whining in my ears.

My elementary school required students to complete a science fair project every year. I hated the science fair. HATED it. One year, I chose the famous “Which brand of store-bought popcorn pops the most corn?” project, because I thought it would be easy.

Big mistake. I will never forget the Saturday afternoon Mom and I popped all those bags of popcorn. It was probably the most beautiful day of the year. We lived on a cul-de-sac at the time, and I could hear all of the neighbors’ kids’ voices as they played in the circle while I sat at the kitchen table, grudgingly counting every stupid popped and unpopped piece, one by one. I hated Mr. Orville Redenbacher’s guts and prayed for our microwave to break.

It’s not that I hated science. In fact, I found science incredibly fascinating. I loved learning about planets and galaxies and dreamed of discovering new worlds. I knew a ton of stuff about dinosaurs and built motorized cars and appliances with the erector set my grandfather brought back from F.A.O. Schwartz after one of his trips to New York City. Ninety percent of the stories I wrote in elementary and middle school (and I wrote a LOT) fell in the science fiction/fantasy category. Example A: kid’s mother’s boyfriend turns out to be an alien and kidnaps him. Example B: siblings find an old mirror in their grandmother’s attic and fall through the glass into a fantasy world full of prehistoric animals.

I loved – and still love – science that I can SEE – or at least science that I can visualize. I love science that has a story. I loved biology; I hated chemistry.

I hated my elementary school’s science fair, but one of my close friends won it every year. Now she’s getting her PhD in cell and developmental biology at Vanderbilt. And I’m still writing stories. Figures.

The more we change, the more we stay the same.

I always assumed I’d keep writing.

I never dreamed I’d be part of a worldwide effort to find a treatment for a rare, fatal childhood disease that kills its victims by preventing the body from breaking down fatty substances called lipopigments, thus causing the death of specific cells, called neurons, in the brain, retina and central nervous system.

I never dreamed that my little sister would be one of those victims.

Or that I’d be getting emails from talented scientists about translational research and drug absorption and pig model stuff. In fact, if you’d told me 10 years ago that at age 30, I’d be knee-deep in groundbreaking medical research, you know what I would have said?

“When pigs fly!”

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.

Exercise 6

Published: June 10, 2012 ~ 0

By Laura Edwards

I found a bunch of old creative writing assignments in a notebook while cleaning last week.

During my sophomore year of college, I started my intermediate fiction writing class with a prompt and 30 minutes to write. I don’t remember the prompt for “Exercise 6,” the first half of which is included below, but I’m not sure that much matters.

Mom and Taylor under the counter

When I was sixteen years old, my mother had a little girl. She and Dad named her Anna Taylor after my great-grandmothers and decided to call her Taylor. Mom and Dad hadn’t planned the pregnancy; it was a “surprise.”

It took a long time getting used to seeing Mom in maternity clothes. Mom has much better taste in clothes than I do, and she sure has the looks to go with it. She was a beauty queen in college, but in the classic pretty sort of way, not in the ditzy “I’m easy” kind of way. She was also like the most well-respected person in all of Charlotte because she headed up every volunteer organization she ever joined. She gave all the inner-city kids hope and kept the symphony from going broke. She even got the meet the President of the United States once. Too many people were counting on her; she was way too busy to have a baby.

Mom told me that she was pregnant one day when I came home from school. I was a fifteen-year-old sophomore, and she was forty. She was sitting cross-legged on the carpeted floor of her walk-in closet rummaging through some old photographs when she must have heard me come in.

“Hi, sweetheart,” she called. “Do you think you could come here for a second?”

I dropped my backpack in the front hall and trotted upstairs.

She asked me how my day had been, as usual. I told her it had been long, as usual. Then she just came out and said it. No buildup or anything.

“I’m pregnant, Laura.”

At first, I thought she was joking. I kept waiting for the punch line, but she just sat there, her eyes searching mine. And then: “I’m due in August.” She was in gray leggings and an old sweatshirt, and a headband held her short blonde hair out of her eyes. My mother was beautiful, even in her housecleaning outfit. I was only five when my little brother was born, but my memory was pretty clear: he was born in the summer and she was hot and miserable and worn out and the ’80s maternity clothes were too ugly for her classy looks.

I still don’t know whether I was hurt, or sad, or mad, or what. It was all just too weird. I ran out of the room and didn’t speak to her for the rest of the afternoon. Better to remain silent than to say the wrong thing and hurt her feelings. It was rainy and cold outside, and I put on my headphones and my Nikes and sprinted the two miles to my best friend’s house to cry to HER in HER closet. It was so cold, the tears froze on my face as I ran. It wasn’t fair.

Often, we don’t know what we have until we’re in danger of losing it.

Might as Well Keep Running

Published: June 3, 2012 ~ 1

By Laura Edwards

Yesterday afternoon, I drove to Davidson, NC, a quaint college town about 30 miles north of my home in south Charlotte, to take part in the second annual 24 Hours of Loopy on the town Green, an event to promote awareness of Batten disease and raise money for the Batten Disease Support & Research Association. When I arrived a few minutes after 2:30, a totally loopy, totally awesome ultra marathon runner named Jeff McGonnell had already been circling the patch of grass in front of the public library for close to 19 hours. Various others had come and gone – from serious runners in Jeff’s Davidson Area Running Team (DART) group to fun-loving 5-year-olds to walkers.

I slipped into the rotation a few minutes before 3 p.m. After my last race in April, I took it easy for most of May, and I didn’t expect to tally more than a couple of miles, maybe five or six at most, before finding a golf chair and kicking back to enjoy the live music. But I was having too much fun to stop at mile six. At mile seven, I picked up new garb (in return for making a donation, spectators could dress runners in crazy costumes). At mile 10, I realized I had enough time to run 3.1 more, even with a break for two oatmeal raisin cookies from the Soda Shop across Main Street. I hadn’t run more than eight miles since a 10-mile race on April 21. I hadn’t trained for a half marathon. I hadn’t eaten a pre-half marathon dinner the night before or half-marathon breakfast or lunch before leaving my house the day of (in fact, I’d inhaled two brownies on my way out the door). But I had blue skies overhead, a gentle breeze on my skin, live music on the course and a supportive crowd that included my parents and Taylor. I had pig ears on my head, a red boa around my neck and a grass skirt around my waist (what?! :)). I’d set out that day to run for Taylor. I still felt strong. Nothing hurt – too much. So I figured I might as well keep running.

Thirty minutes later, I finished my unofficial half marathon just as Jeff McGonnell began his final lap around the Green.

Some days, I want to quit fighting this fight. Just walk away. Some days, it just hurts too much. Some days, the hills are just too steep.

But somehow, I keep finding a way to shake those days off. I never stop hurting. I’ve never found flat ground. But I’ve never stopped fighting.

I entered this race. I’ve got some momentum. It doesn’t always feel good. I don’t get to stop and rest whenever I choose. But I’ve made progress. I hurt, but not so much that I can’t run. So I might as well keep running.

I’ll Run. I’ll Believe.

Published: June 1, 2012 ~ 0

By Laura Edwards

Today is June 1, 2012.

It’s been 2,139 days since I learned about a devastating disease for the first time – in the very worst way.

It’s a day that marks the end of school, maybe forever, for my little sister.

It’s the first day of International Batten Disease Awareness Weekend.

It’s the first of three more days to believe.

In a few minutes, Jeff McGonnell, an ultra marathon runner from Davidson, NC, will begin his second annual “Loopy for a Cause” run around the Davidson town Green. He’ll run through the night and tomorrow morning, and when I arrive after lunch to join him for the afternoon stint, he’ll still be running. In all, Jeff will run for 24 hours. Last year, he ran almost 90 miles in support of the fight against Batten disease and children like my sister, Taylor (Jeff runs for Brandon and Jeremy Hawkins, who are friends of his son and have juvenile Batten disease).

In 24 hours, Jeff will say hello to a golf chair and a Gatorade, and the loopiness will end. In 48 hours, Batten Disease Awareness Weekend will come to a close. But our fight will be far from over.

Another 2,139 days from now, I’ll still be fighting like hell.

One day, I hope to use this space to tell you we’ve beat the damn thing – or at least knocked it down.

Until then, I’ll run. I’ll believe.

Note: I’m scheduled to run with Jeff from 3-4 p.m. on Saturday, June 2, but you can come out and support “Loopy for a Cause” anytime between 6 p.m. tonight and 8 p.m. tomorrow (the event will continue for two hours after the conclusion of the run). Click here to learn more.

Loopy for a Cause

Published: May 30, 2012 ~ 0

By Laura Edwards

If you read my blog at a regular clip, you know I’m a runner. I run because it feels good. I run because it’s good for me. I run for Taylor.

This Friday – Saturday (June 1-2) marks the second annual “Loopy for a Cause” on the Green in downtown Davidson, NC. The event, founded by Davidson resident and ultra marathon runner Jeff McGonnell, coincides with Batten Disease Awareness Weekend and raises money for the Batten Disease Support & Research Association (BDSRA). Last year, I saw Jeff circle the town Green for part of his 24-hour “loopy” run. Six weeks removed from an Achilles injury, I had to watch from a golf chair.

This year, I’m free from the orthopedic boot that blessed me with one of the world’s greatest tan lines last summer. So instead of watching from a golf chair, I’m scheduled to run with Jeff from 3-4 p.m. this Saturday, June 2. Last year, Jeff circled the Green 650 times, totaling almost 90 miles. I won’t come close to that, but I’m excited to join Jeff in his amazing efforts.

If you live in the Charlotte area, I hope you’ll come out for at least a portion of this great event! In case watching us circle the town Green isn’t entertaining enough to suit your taste, you’ll also have the opportunity to enjoy a movie on Friday evening – organizers will show “Ferris Bueller’s Day Off” – and 10 hours of live music on Saturday.

You’ll also have the opportunity to donate to a great cause – the fight against Batten disease. This weekend’s event benefits the BDSRA. If you choose to donate, I’ll wear one of many costumes. You can pay to make me run in a big wig, flowered hat, cape, dress or even a cow outfit!

Once again, I’ll be running from 3 p.m. to 4 p.m. this Saturday, June 2. Come on out and join the fun (bring a chair and a camera)!

Jeff will kick things off at 6 p.m. on Friday and wrap up at 6 p.m. on Saturday (the live music will end at 8 p.m. that night). To learn more, click here.

Come on Eileen

Published: May 25, 2012 ~ 0

By Laura Edwards

I had my nails done on my way home from the office this afternoon. A local station played on an unseen radio in the otherwise strangely quiet salon. Between my pedicure and manicure, the station played the song “Come on Eileen,” released by the Dexys Midnight Runners in the summer of ’82, when I was three months old. As the first notes reached my ears, I immediately thought of one of my best friends from high school, Allison. Allison and I played on the same school and select soccer teams for six years. Our high school varsity team put together a playlist for pre-game warm-ups on the field for all of the home games each spring. Allison LOVED ’80s music, and she’s the only person I ever met who could get psyched up for a game by listening to a song like “Come on Eileen.” I still can’t figure it out, but hearing the song today made me smile just the same.

Taylor’s eighth grade year is complete. If life had turned out differently, my little sister would be a rising freshman, her whole life still ahead of her. She might have been on the field for select soccer team tryouts this summer or in the football stadium with a couple of pom poms this fall. But instead, Taylor will not be with her classmates – her friends – when they enter high school in August.

At Taylor’s age, I didn’t have many worries – not real ones, anyway. When most of my middle school friends when to the rival high school, I worried about making new ones. I wanted straight As, not As and Bs. I desperately wanted to impress my select soccer coach in our twice-weekly practices so he’d give me lots of playing time on Saturdays and Sundays. I wanted a “steady” boyfriend, or at least a date.

Taylor doesn’t have time to worry about any of those things. She’s fighting for her life. And I HATE that. I lost a lot of sleep over a lot of frivolous things during my teen years. Then, I turned around and spent a good part of my 20s fighting tooth and nail to give my little sister – and every other kid like her – a shot. Not at making straight As, or becoming a star athlete, or dating the homecoming king or queen. A shot at LIFE, whatever it might hold. That’s all.

My little sister is beautiful. I love her just for who she is. And I HATE Batten disease.