What I Didn’t Know

By Laura Edwards

I published my first blog post in January 2007, six months after my sister’s infantile Batten disease diagnosis. Since then, I’ve written 171,147 words (good for about 330 single-spaced pages in Microsoft Word, in case you wanted to know). 

The following post appeared on my old blog, Transmissions, on October 4, 2007. I was 25 and still pretty new at being a wife, health care communications pro and rare disease advocate. Taylor’s Tale had one fundraiser under its belt. My sister, Taylor, was 9. She ran, skipped, jumped, sang, laughed, played and went to school five days a week. She couldn’t see too well, but she wasn’t blind. She didn’t have seizures.

In 2007, I knew more about Batten disease than most doctors. Looking back now, I realize I still didn’t know that much about Batten disease compared to what I know today. But I think I got what’s important. And I’m pretty sure that’s the reason I’m still standing.


October 4, 2007

2006 disney worldHave you ever gotten so close to something you could almost taste it, only to then lose it? Something really important–something at which you may never have another chance?

How do you get over that kind of disappointment? I think I’m finally learning that we just have to put our heads down, clench our jaws and continue on our search for answers more fervently than before. Each lost opportunity or dose of bad news wears on us, but it also steels us for what’s still to come. What kind of world is it where you get through the days mostly because you know they’re better than what you’ll have in the future? How utterly horrific does a disease have to be to have that kind of an effect on an otherwise beautiful life, a life full of so much potential?

My expectations aren’t a signal of lost hope or lowered spirits. They are, if you will, my acceptance of reality. I know that it takes time to do the kind of research it will take to save Taylor and, ultimately, other children with Batten disease. “Time” may be one year or five years, but I don’t know how many years T has. I know that it takes money. “Money” may be $250,000, or it may be millions. We have no way of knowing exactly how much it will take. Batten disease is rare–I haven’t lost sight of that fact–but I also haven’t lost my belief in the priceless nature of the life of even a single child.

I have hope, because I know how close we could be. Nothing–not this website, not an event, not even the funds contributed by our compassionate donors–can guarantee that we’ll beat this, but in the absence of those things, children will only continue to die. Our donors have made an incredible difference in the eight short months since Chapter One, but we have to keep it going–and that’s on us as much or more than anyone else. That’s on me to continue to pour my heart out here for the entire world to see and on our committee to sustain the energy we’ve shown this year. It’s on our family to be there for T.

The cure won’t be found tomorrow, but it’s out there. And every day we don’t further the research is another day for this disease to eat up the bodies and minds of these kids. It’s like a parasite, and it works at different speeds depending on the child. Some children lose this battle very quickly. I want us to have the best chance to save all of them.

I know how bad this disease can get, and will get if we don’t stop it, because I saw it in Rochester in July. I saw it in those children, and I saw it in the hearts and faces of their parents. My heart breaks for them. My heart breaks for T. We are far too late to save many of those children. I have met children who likely will not be with their parents next year. Who will never get their first locker at school. Who will never get their drivers’ licenses and will never experience their first kiss. Life is about milestones and all of the things that happen in between. Many of these children reach important milestones, like taking their first step or learning how to read, only to have them taken away from them. Before Batten disease is done with them, they won’t even have the memories of what they could once do, or who they could have become. I hate this disease and everything about it. People age–that’s how life works–and as they age, they find that they can’t do things they were once capable of doing. I’m only 25, and I can’t play a soccer game anymore without waking up in pain the next morning. I used to play four, even five games in a weekend without missing a step. But I still have the memories. And as my life changes and things fall away, they are replaced by new things that are just as, or more, rewarding. I miss being in college, but I love being married. T can’t ride her bike anymore, but what’s there to fall in its place? She can’t play on a soccer team like her sister, and she had to give up dancing when her vision kept getting worse and worse, and what does she get in return? I guess what’s important is for us to realize the unique beauty of the things T is able to experience these days, like horseback riding and listening to her favorite music.

My love for her is so strong, and I hope she knows that. I wonder if she knows how I cry inside for her on all of my days, even when I’m happy and perhaps even more so then, because in those moments, I want to hold on tight and never let go. I hope she knows how much of a miracle her presence is and always was, and how much of an impact her strength has had and will continue to have on so many people. I hope she knows that because of her, with or without Batten disease, I am a better person.

Making Fruit Punch Out of Berries

By Laura Edwards

World Rare Disease Day is an annual awareness initiative founded by the European organization EURORDIS and coordinated by the National Organization for Rare Disorders, Taylor’s Tale and other national and patient organizations in the U.S. and worldwide. Since its founding in 2008, it’s resulted in over 1,000 events and a great deal of media coverage.

Taylor’s Tale, the non-profit organization founded in honor of my younger sister, Taylor, held an event to recognize Rare Disease Day on Friday for the second straight year. We asked members of the rare disease community and the public to gather in Charlotte’s Freedom Park for a candlelight vigil to honor the 350 million people fighting a rare disease, their caregivers and the experts working to find life-saving treatments.

Judy Mayer, my friend and fellow soldier in the fight against rare disease, worked around the clock to pull off Charlotte’s official event in recognition of Rare Disease Day while my mom, Sharon King, prepared to join about 150 other rare disease advocates in Washington for a week of sessions and meetings with members of Congress on Capitol Hill.

Two days before our candlelight vigil, Judy wrote to inform my mom and me that when she opened the box from the glow stick company, she found 150 multicolored glow sticks, even though she ordered white glow sticks, and the box was clearly marked “white.” Since we didn’t have enough time to place a new order, Judy wrote the mishap into our script. So as the sun dipped behind the trees on Friday evening, our emcee, Kathi Knier, asked the crowd on the lawn to light their glow sticks, which “shone in many colors to remind us of the more than 7,000 rare diseases and disorders that have been identified to date.” The colorful glow sticks lit our small corner of the city park, symbolizing the millions who, like Taylor, suffer from one of 7,000 rare diseases, many of which have NO approved treatment.

Laura and Bryant Graeber

Bryant Graeber, one of Charlotte’s many rare disease heroes, shared a moment with me before we got started.

Soft notes from a guitar drifted across the stage, and those glow sticks bobbed on the lawn, like multicolored fireflies on a summer night from another lifetime. And as I sat in my chair across the water from the small crowd that had gathered to honor heroes like my sister and Bryant Graeber, who has MPS1 and whose optimism shines a light on the world brighter than the brightest candle, I thought that those glow sticks looked strangely beautiful in the cold February night.

While the glow sticks danced in the twilight and the music filled my ears, I thanked God for people like my mom, a true champion for the rare disease community, who at that very moment was making her way back from a week in our nation’s capital during which she did what she was born to do: change the world. I thanked God for people like Judy, who, in the 11th hour, did what rare disease advocates do best: she made lemonade out of lemons – or, as I said in my reply to her email about the goofed glow sticks order – she made fruit punch out of berries. And in the war against rare disease, that’s the key. There’s nothing you can do about what’s already in your genes, or in my case, the genes of someone you love. In most cases, once rare disease crashes into your life, you have to stay in the ring and fight it as best you can. But you don’t have to take those punches lying down. You can hit back. And if you land enough punches, and you believe you can win, someday, you will.

Rare disease affects 30 million Americans (or one in 10 people) and 350 million people worldwide. Are you personally affected by rare disease, or do you know someone who is?

Voting Takes A Stand

By Laura King Edwards

FairVote (formerly the Citizens for Proportional Representation and the Center for Voting and Democracy) is a 501(c)(3) organization that advocates electoral reform in the United States. Founded in 1992 as the Citizens for Proportional Representation (CPR) to support the implementation of proportional representation in local elections, the organization has since changed its name to FairVote to emphasize its support of such platforms as instant-runoff voting for single-winner elections, a national popular vote for president, a right to vote amendment to the Constitution, and universal voter registration.

FairVote also releases regular publications, including Dubious Democracy and Monopoly Politics, that report on the state of the U.S. electoral system. Other projects, such as Representation 2020, aim for voter outreach and increased voter participation.

The organization influences and supports other groups that advocate alternative electoral practices, including FairVote Minnesota and FairVote Canada. Notable members of FairVote’s Board of Directors include John Anderson, a former Congressman who ran as an independent candidate for President in 1980, and Krist Novoselic, the bassist for Nirvana.

The Soul of the Playathon

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:

Pamela and studentsThe (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

Polly and studentsThe 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

Every Day Should be Bryant Graeber Day

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.

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

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.

Taylor with Braille placematWhen 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

By Laura Edwards

running with SteveI 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.


By Laura Edwards

Taylor in the garden


Forgotten garden

Spring rain from a silver sky –

Whisper of our tears.

Down the Rabbit Hole

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.

taylor ballerina