The Soul of the Playathon

Published: February 9, 2014 ~ 0

By Laura Edwards

Not long after we learned that my little sister has a rare disorder called Batten disease, my grandmother’s best friend, Polly Greene, opened her heart and the piano studio in her home in Raleigh, N.C. She invited her young students and their families to play music in a relaxed environment on a chilly February afternoon to honor Taylor’s brave fight and raise money for a fledgling organization called Taylor’s Tale.

The playathon Polly founded became an annual event. Her friend and co-chair, Pamela Tsai, took the effort to a local piano shop in its second year, and it’s only continued to grow. Last weekend, the sixth annual playathon brought together 19 teachers and 112 students, whose music and show of support for a peer many of them have never met attracted almost 250 guests on Super Bowl Sunday.

The kids and their teachers raised over $3,000 for our fight against Batten disease, but that’s not what I love most about the playathon. It’s the event’s soul, captured best in the reflections of those who created it and continue to stage it, year after year:

The (kids) who met (Taylor) in the past always want to know how she is doing and if they will see her this year. They understand when I say she can’t travel very well anymore, but they wish that she could. The ones who haven’t met her want to know all about her…how old she is, what she can do, would she hear them if they played? They really do seem to know who they are playing for and why. Sometimes, students will tell me that they saw someone else at their school in one of the (Taylor’s Tale) t-shirts and went and talked to them. It seems clear the playathon is more than just another activity to them.

At Hopper (Piano & Organ Company) a little girl of about 7 emptied her change purse…that likely accounts for the 55 cents (in the final amount raised). I thought that was very cute.

-Pamela Tsai

The playathon offers an opportunity for young people to use their music to give back – to reach out – to help someone else. I watched the students come into the different venues – music in hand, parents and friends by their sides, smiles on their faces – all because they are playing music and not thinking about themselves. Some are dressed to the nines and some in casual clothes, but they come, and they come willingly. They come to play for Taylor.

There must be something freeing for them to know that each note they play is for Taylor and for others like her; to know that by giving up a few minutes of their weekend, someone else might get better or at least be encouraged.

But a look at the parents’ and students’ faces also reveals a lot. At recitals, you see parents and children come in, (and you notice) some signs of stress on their faces, some worried brows over whether their child will play well and slumped shoulders of some students who know they did not practice enough. But at the playathon, parents and students come in relaxed, smiling and talking with each other, all knowing it is going to be a fun afternoon – they can play pieces they like – they can use their music – and they are sharing the stage with students of other teachers, all for a great cause.

It is also a window into the styles of fellow teachers – you see them as they relate to their students – how they encourage them and talk with them – how the students look to their teachers for encouragement and acceptance and a nod that they did well. This is something private piano teachers do not get to experience, because we are all teaching in our own studios; how nice it is to be able to interact with other teachers and their students. It is rare for this to happen – especially when all are there for a common cause, and it does not involve competitions or contests.

And finally – here are some pictures that stick in my mind:

The 6-year-old who is so shy, she will not speak up at school but will go up on a stage in front of strangers to play for Taylor, and the surprised look on her parents’ faces as she does so with confidence.

The 9-year-old girl who brings her own entourage of friends – all dressed in their Sunday best and acting like they are at the best music show in town.

The young girl dressed in a purple skirt with net and stars befitting the best ballerina in town and her pink cowboy boots.

The teacher whose students all come dressed in purple for Taylor – and when you look closer, most of the parents are in purple, too.

The father of a new student who has only had a few lessons – worried about how well she is doing – then seeing his beaming face as he watches her play her pieces – he knows she is doing just fine.

The look on the face of the father of a teenaged boy who goes to the stage – hat on his head, dressed in casual clothes and playing his own version of his pieces – change from interest, to pride, to a broad smile and then a shake of his head in wonderment.

The student with autism who has found a love of music but is wary of playing and anxious about going up to the piano, but he does it for Taylor – and he is proud of himself when he is done.

The store owners who graciously donate their recital halls for Taylor – and then you see them go over and put a donation into the basket.

The look on the face of Taylor’s grandfather as he sits on the front row listening to student after student play for his granddaughter.

It is an afternoon with little stress for the students – an afternoon of music – an afternoon of students supporting and encouraging each other – an afternoon of teachers sharing a musical experience with each other – an afternoon for Taylor.

-Polly Greene

Thanks to all those who attended the event and gave to Taylor’s Tale, from parents and grandparents to others who had no children playing but came to support our cause anyway. Thanks also to Hopper Piano & Organ Company, Maus Piano and Organ and Ruggero Piano for donating space for this wonderful event once again. Finally, thanks to Polly, Pamela and all of the teachers and students whose selfless love and dedication help us get closer to beating this disease each year.

Watch a UNC-TV feature story about the playathon

The End of the Race, but Not the End of the Story

Published: February 2, 2014 ~ 7

By Laura Edwards

Nine days before the race of my life, I received a short email message from a writer asking me if I could do a short interview for a possible feature on my attempt to run Charlotte’s Thunder Road Half Marathon blindfolded in support of my sister, Taylor, and the fight against rare diseases. Between final training runs and race preparations that weekend, I did an interview with Gail Kislevitz of the New York Road Runners.

Runner's World cover

No emotions could match those I felt the day of the race on Saturday, Nov. 16, as I ran 13.1 miles in the dark, led only by my guide, Andrew Swistak, and the courage of my sister, whose presence I felt throughout the morning even though her declining health didn’t allow her to attend. But when I received another email from Kislevitz early on the morning of Tuesday, Nov. 19, informing me that our story had been selected for publication, I jumped so high in the air that my head almost hit the ceiling of my closet.

Taylor’s story is moving, and Taylor’s Tale has been lucky to achieve a great deal of local and statewide media coverage since our founding in 2007. The Thunder Road story, in particular, raised our profile and helped us reach a whole new audience, garnering multiple TV, print and online stories and even the cover story in a statewide magazine. But the news that Runner’s World, the world’s largest running magazine, had chosen our story for its What it Takes column made my heart race.

The March issue hit newsstands on Friday. I subscribe to Runner’s World, but I raced to the grocery store to purchase a few additional copies. We didn’t get the cover, a full-page story or even a full column, but seeing our names and a phrase I hate with every bone in my body – “Batten disease” – within its pages means everything to me. We may have only gotten a paragraph, but thanks to that paragraph, thousands of people who would have otherwise never heard of Batten disease now know the name of the monster stealing my sister away from us. Maybe, just maybe, they’ll Google it, learn the depths of its horrors and be compelled to help kids like Taylor – a kid who, once upon a time, loved to run – just like them.

And that’s the only reason I’m running this race.

Note: Our story appears in the “What it Takes” column on page 20 of the March issue of Runner’s World magazine. Thanks to the Runner’s World team for their support of our fight against rare diseases!

Every Day Should be Bryant Graeber Day

Published: February 1, 2014 ~ 3

By Laura Edwards

Yesterday, the Harris Family YMCA, my neighborhood gym, celebrated Bryant Graeber Day when Bryant, the Y’s friendly greeter, welcomed his one millionth guest.

I run 20 to 30 miles a week and log most of my miles outdoors, but when bad weather strikes or the weight machines call my name, I head to the Harris Y. And on many of my visits to one of Charlotte’s busiest gyms, I’m greeted with Bryant’s beaming face. Whether I’ve had a bad day or fought 10 people for a parking spot in the congested lot, Bryant’s optimism can make all my worries melt away.

Bryant, like my sister Taylor, was born with a lysosomal storage disease, a rare, inherited metabolic disorder that results when the lysosome – a specific part of the body’s cells – malfunctions. People with lysosomal storage diseases are usually missing an essential enzyme needed to break down fats, sugars or other substances. Bryant has MPS1, which causes the unwanted buildup of sugar in every organ of his body.

When Bryant was 14, he and nine other teens participated in a clinical trial for enzyme replacement therapy (ERT) at UCLA. The therapy Bryant received got FDA approval four years later. It’s not a cure, but the therapy Bryant continues to get weekly slows the progression of MPS1, improving his quality of life and extending his life.

To Bryant, I’m just one of thousands of Harris YMCA members he’s greeted over the years. Because he has a kind heart and a real love for what he does, he treats me as if I’m his only guest every time I come through those doors. But my husband, John, who worked at the Y for more than a decade, developed a real friendship with Bryant. My mom, Sharon, the fearless leader of Taylor’s Tale, built a friendship with Bryant’s mom, Melissa, like herself a tireless advocate for the rare disease community and treatments like the one Bryant received – treatments the world’s great scientific minds can conjure yet our system as it exists today too rarely allow to come to fruition to help the people who so desperately need them.

Bryant’s life is a miracle, but if we committed to doing more with the science we already have, stories like Bryant’s would become more commonplace. I think every day should be Bryant Graeber Day, and I hope the light he brings to the world each and every day serves as a reminder of why NO disease is too rare to get our very best fight.

Read a Charlotte Observer article for more on Bryant’s story

Question: Do you work out at Charlotte’s Harris YMCA? If so, have you ever been greeted by Bryant Graeber? How has he changed your life? Let me know in the comments below.

Note: Taylor’s Tale has supported the development of enzyme replacement therapy for infantile Batten disease at the University of Texas Southwestern. Click here and scroll to the end to learn about past grants in 2007-11.

Just Words on a Page

Published: January 27, 2014 ~ 2

By Laura Edwards

Yesterday, I did the most amazing thing: I scheduled my day. My husband promised a friend he’d help him with a home improvement project that I suspected would turn into an all-day affair. I had a couple of tasks I wanted to accomplish with my Sunday of solitude. I not only made a list – I scheduled the items into specific blocks – and I told myself if the time on a task ran out, that’d be it.

After I organized my notes from interviews for a book-length project and went for an eight-mile run in the January sunshine, I worked on PR for the piano playathon, an annual event benefiting Taylor’s Tale and the fight against Batten disease in Raleigh, NC. Two hours before the UNC-Clemson basketball game, I took a cup of decaf coffee, a blanket, my snuggly dog and a book I’m reading for fun (I love to read, but it doesn’t happen often) up to my reading nook by the front window in my bonus room.

For awhile, I lost myself in the book, a novel set in post-Civil War Virginia. As I soaked up the silence and watched the late-afternoon light dance on the spines of books I’ve collected for almost three decades, I thought about how my sister, Taylor, who taught herself to read before she graduated from the preschool class at our church, can no longer enjoy the stories that fill the pages of the books lining the shelves in her own room.

When we learned Taylor would lose her vision, she began working with Jill, a VI specialist (teacher for the visually impaired). My sister learned the letters of the braille alphabet. She learned how to string the letters into words and the words into sentences. She showed me the correct way to read the raised dots of the braille alphabet with my fingertips, even though, because I’m not blind, it would have been easier for me to learn how to read the letters with my eyes. She learned how to type on a Perkins Brailler, a braille typewriter. She typed braille notes for me and made a braille birthday card on fire engine red construction paper for my 27th birthday. Her teacher, Jill, wrote the words underneath the raised dots, because, unlike my little sister, I never mastered the braille alphabet.

But then Batten disease stole braille from Taylor, too. My sister is the girl who, not so long ago, foiled her church preschool teachers’ idea to help the other kids learn to read when she skipped down the hall and announced the names printed in neat, block letters above each cubbyhole. But then her eyes quit on her, and a few years later, her fingers quit on her, too.

You could say the books lining my shelves are just things. You could say the stories they share are just words on a page.

But while they’ve brought me great joy, they’re another symbol of all my sister has lost; of all she stands to lose.

I’ve heard something about this story.

I don’t like the way it ends.

At the Corner of Tragedy and Opportunity

Published: January 20, 2014 ~ 0

By Laura Edwards

I met Dr. Steven Gray at a Greensboro restaurant in January 2011, several years after he began fighting an ultra-rare disease called giant axonal neuropathy (GAN) in the lab of his mentor and one of the world’s leading gene therapy experts, Dr. Jude Samulski, at the University of North Carolina Gene Therapy Center. Steve signed on after meeting Hannah, the four-year-old daughter of Lori and Matt Sames and the inspiration for Hannah’s Hope Fund, the charity that funded his work.

Two years after I met Steve for the first time, Taylor’s Tale joined an international coalition of non-profit organizations to fund a two-year Batten disease study modeled after Steve’s work on GAN. When I visited the lab at UNC, I noticed the photos of children that decorated Steve’s office door and many of the doors lining the hallway. Steve explained that seeing the faces of the kids stricken by the diseases he and his lab mates study each day provides a constant source of motivation. You see, 80 percent of rare diseases are genetic in origin, so a gene therapy lab is no stranger to the fight against rare disease. Half of the 350 million people affected by a rare disease are children, and many rare diseases are fatal. You could say that Steve and his coworkers are in the business of saving kids whose families have been told they don’t have any hope. And it doesn’t get any more emotional than that.

The fight against rare disease is a bitch, and I should know: I pull late nights in my second job as advocate and storyteller because I’m watching my little sister lose her battle with infantile Batten disease, and I refuse to let families like mine fight this battle forever.

Largely because of people like Steve, though, I believe. And according to a recent article featuring Steve and his work in Nature, one of the world’s leading scientific journals, my optimism is well-founded:

Thanks in large part to the determination of patient organizations like Taylor’s Tale, rare disease research is hotter than ever before. Generous gifts have allowed prestigious universities to create institutes focused on rare disease.
Government initiatives such as the Therapeutics for Rare and Neglected Diseases program at the NIH have been developed to promote rare disease research. Taylor’s Tale has been part of advancing important rare disease legislation in U.S. Congress.
Drug companies that used to run screaming from tiny diseases like Batten disease have learned from success stories like Genzyme, which built its entire foundation on developing drugs for orphan diseases. One-third of the 39 drugs approved by the FDA in 2012 were for orphan diseases, and worldwide, the market for orphan drugs is expected to skyrocket from $86 billion in 2012 to $112 billion in 2017. Large drug companies like GlaxoSmithKline (which has an office in North Carolina’s Research Triangle Park, three hours from my hometown) now have dedicated programs for rare diseases.
There are opportunities for overlap with more common diseases, e.g. cystic fibrosis with chronic obstructive pulmonary disease.

Six years ago, Hannah Sames’ parents asked Steve Gray to find an answer for GAN, a horrible disease that affects fewer than 100 children worldwide. At the time, the odds seemed insurmountable. But a clinical trial for GAN is expected to begin this spring. A whole global community contributed to that effort. And perhaps one day soon, because families believed and scientists showed up at the lab each day willing to work a little harder because of the faces of kids on their hallway doors, kids like Hannah and Taylor won’t lose their lives to an orphan disease.

Read the Nature article

Note: The article “Disease research: rare insights,” originally published in the journal “Nature,” was the source for much of the content shared in this post.

Haiku

Published: January 19, 2014 ~ 2

By Laura Edwards

Yesterday

Forgotten garden

Spring rain from a silver sky –

Whisper of our tears.

Down the Rabbit Hole

Published: January 12, 2014 ~ 2

By Laura Edwards

“Do not take for granted what you have today. Tomorrow is not guaranteed. We must always strive to do our best. There are times we can’t always see the light at the end of the tunnel, but it is there. We have to choose to make it worth it.”

Meb Keflezighi, top American marathoner, Olympic silver medalist and ING New York City Marathon winner

When doctors diagnosed my little sister with a fatal brain disease in July 2006, I vowed to do two things:

Never take another day for granted
Help save Taylor’s life

It’s been close to eight years since Batten disease crashed into our lives. In that time, I’ve lost my way more than once. Sometimes, I focus on the wrong things. I don’t always listen to my heart. I’ve let Batten disease steal pieces of my sister while I watch, helpless. Pieces we can never get back.

But I feel blessed that in that time, we’ve also shared moments that I’ll never forget. Taking a trip to Disney World months after her diagnosis and before dark curtains fell on her eyes, so rare and beautiful. Receiving private concerts on her stage, my parents’ fireplace, before Batten disease silenced her singing voice. Eating melting ice cream cones together on sticky summer evenings when she could still hold a cone – and a spoon. Racing through the wet sand and into the Atlantic Ocean to crash knees-first into the waves before the monster stole her ability to run and walk.

In that time, I’ve also been a small part of monumental advancements in the fight against not just Batten disease, but also the thousands of rare diseases that affect 350 million people around the world as well as common brain-based and genetic diseases, from Alzheimer’s disease and Parkinson’s disease to age-related macular degeneration, multiple sclerosis and even HIV/AIDS. The gene therapy being tested at the University of North Carolina for infantile and late infantile Batten disease – work co-funded by Taylor’s Tale – could, indirectly, help hundreds of millions of people.

My sister’s story will change the world.

On Dec. 31, I texted my mom and invited her, my dad and Taylor out for a low-key dinner at our favorite pizza place. She accepted right away. Afterward, we decided, we’d go our separate ways.

But John and I arrived at the restaurant a few minutes late. We walked in to the cacophony of noisemakers and screaming kids. In the back of the room, we found Taylor, shell-shocked, gasping for air, with my distraught parents. In a flash, we shuttled my sister out of the pizza place, into the car and to the quiet of my house. During the next several hours, as most of the East Coast celebrated the New Year, kissed loved ones, drank champagne and gave thanks for clean slates, we watched Taylor slip further from our grasp without ever leaving my sofa. I’ve watched Batten disease inflict unspeakable horrors, but I’d never witnessed anything quite like what Taylor endured on New Year’s Eve. When Mom and Dad took her home an hour before the clock struck midnight, I watched their tail lights wink in the distance, then disappear…and at that moment, I knew that my little sister had just gone down the rabbit hole.

Meb’s right; tomorrow isn’t guaranteed – for Taylor, for me or for you. We can’t live in constant fear, but we should recognize the gifts we have, no matter how great or small they may be. Our paths won’t always be lit; my family’s path has been cloaked in shadow more often than not. But if we believe, we’ll have more good moments than bad. If we believe, we’ll get to the end of our tunnel. And the light at the end is a beautiful, bright light, more magnificent than anything you or I have ever seen.

2013: The Memories

Published: December 29, 2013 ~ 2

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.

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.

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.

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.

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.

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.

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.

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.

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.

The Greatest Race

Published: December 22, 2013 ~ 0

By Laura Edwards

Thanks to my friends at Run For Your Life, who hooked me up with a free pair of purple Saucony Triumphs and some other swag for putting together one of the biggest – and most awesome – teams at Charlotte’s Thunder Road Marathon. I also snagged a pair of limited edition, stereo-Bluetooth earphones from yurbuds.

running gear

I don’t think anyone’s ever made a shoe quite like the Brooks Glycerin (the only shoe I’ve worn in a race for three-plus years), but I’m willing to branch out in the name of purple and variety. And the earphones are just cool.

I’m already filling my race calendar for the coming year, and though I’ll never be able to match the epic journey of my blindfolded run for my sister at last month’s Thunder Road Half Marathon, I couldn’t be more excited about running for Taylor and the fight against rare diseases in 2014.

Less than a week after I kick off my sixth year of running for Taylor with the Charlotte 10 Miler, Taylor’s Tale and other organizations from more than 70 countries will recognize Rare Disease Day. On Feb. 28, 2014, the seventh annual Rare Disease Day will provide a platform for patients, patient representatives and others to raise awareness about rare diseases and the huge impact they have on patients’ lives. Since its founding in 2008, Rare Disease Day has contributed to the development of national plans and policies in many countries, including the United States. Last year, Taylor’s Tale sent two board members, including my mom, Sharon King, to Washington to attend sessions, visit with legislators and advocate on behalf of the 30 million Americans who suffer from a rare disease.

As my mom and her travel buddy, Debbie Carney, forged relationships with key decision makers and gained valuable knowledge, the rest of the Taylor’s Tale team joined with Dr. Steve Gray of the UNC Gene Therapy Center to announce co-funding for a two-year research project that, if successful, could lead to a clinical trial for children with two forms of Batten disease. Ten months later, Dr. Gray’s work is on track, and our team is focused on securing additional funding to help move the project past the first two years and toward our goal of a treatment.

My husband and I are hosting Christmas this week. This weekend, we did some December “spring cleaning” to get our house in shape for the holidays. I pulled all of my race medals down from the plastic hook on the office closet door, where I’d thrown them up in a haphazard fashion. I counted seven from 2013:

As I spread them out on the carpet, I relived each race, from a rain-soaked Charlotte 10 Miler in February to a rain-soaked Huntersville Half Marathon last weekend. I realized I set a new personal record (PR) in every race except the one I ran blindfolded. And I felt Taylor’s absence at every single one. As I sat alone on the floor and ran my fingertips over those medals, feeling the raised details of each one as a blind person would, I thought about how much my sister has declined this year.

I got faster in 2013 – a lot faster. I owe it to a good friend who ran my first race with me and helped me – a born sprinter broken by soccer – believe I could be a distance runner; to the shoes that were made for my balky ankles and feet; and to the doctor who convinced me that lower mileage and cross training might actually make me better on race day. But more than anything, I owe it to my sister, who gives me wings when my lungs burn and my body wants to quit. More than anyone else, my sister, who can no longer walk without assistance, taught me how to fly.

I have big plans for 2014, both on and off the race course. I intend to keep setting PRs. But at the end of the day, my medals are just worthless chunks of metal.

Dr. Gray and others are racing to save kids like Taylor and the millions of people fighting a rare disease.

Theirs is the greatest race of all.