Join Taylor’s Tale as a Force for Good on World Rare Disease Day

By Judy Mayer

Today is World Rare Disease Day. Unlike a typical holiday, the namesake of this occasion is anything but good or happy.

Yet as a Taylor’s Tale volunteer, I have learned that this day is a celebration of goodness and hope. It is a celebration of the millions of dedicated people who comprise the rare disease community….the healthcare providers, researchers, caregivers, families, and most importantly, the rare disease patients who bravely face each day with a steadfast commitment to see a better tomorrow.

United with our supporters and advocates, we are most definitely individual and collective forces for good.

What is World Rare Disease Day?

Founded by Eurordis in 2008 and brought to the United States by the National Organization for Rare Disorders the following year, Rare Disease Day unites patient organizations from around the world that work hard year-round to raise public awareness of and funding for rare diseases. It is a day of special events for very special people.

This day also provides a targeted opportunity to educate elected officials and other public policy makers, industry leaders, researchers and healthcare professionals about the dire impact that rare diseases have on the lives of patients and their families.

Rare Disease is a global public health imperative.

The numbers are overwhelming: worldwide, an estimated 350 million people live with a rare disease. In the United States, one in 10 people suffer from one of at least 7,000 rare diseases, some with devastating consequences.

The reality is clear: rare diseases are not so rare after all. Nor do rare diseases recognize geopolitical borders. Rare diseases represent an equal-opportunity destructive force that is shared by humanity.

Even small organizations like Taylor’s Tale are key to this global call-to-action. We participated in a consortium with other patient organizations in the United States and Ireland to raise funds in support of gene therapy research at the University of North Carolina. And, an international collaboration of scientists conducted the research.

Rare disease progress comes day by day.

While we may only recognize World Rare Disease Day once a year, progress continues on behalf of rare disease patients due to the hard work conducted every day by their advocates and caregivers.

Just a few weeks ago, Abeona Therapeutics announced that the Food and Drug Administration granted crucial Orphan Drug Designation to the gene therapy treatment for infantile Batten disease that Taylor’s Tale helped fund at the University of North Carolina. The Orphan Drug Designation helps accelerate the timeline for conducting human clinical trials while maintaining the standards that protect patients.

Taylor’s Tale founders Sharon King and Laura King Edwards were cited by the Batten Disease Support and Research Association (BDSRA) for their contributions in advancing this vital research.

Rare disease patients need our attention every day.

Like most special-designation days, World Rare Disease Day is intended to highlight our particular cause. The day serves to galvanize our community and, hopefully, to attract much-needed attention to the public health imperative of rare disease.

On this day, we will acknowledge our steps toward progress in providing viable treatments for rare diseases. We will re-commit to advocating for public policies that improve the quality of life for patients and their loved ones. And we will agree to keep fighting, because we must.

You can help this work by remembering that rare disease is not one day a year…it’s every day, every year for those whose lives are forever changed by a devastating diagnosis like Batten disease.

You can help us spread the word that attention must be paid, and that every life touched by a rare disease…regardless of where in the world…matters. You can join us to be a force for good for all rare disease patients.

Photo courtesy of Viriya Riyakum/Shutterstock.com


Embracing the Art of Living

By Sharon King

It has been one of those weeks — a week of busyness, stress and grief. Some (okay, a lot) of it was self-imposed, yet I let it cloud my focus on the precious things that I should have been doing.

So, here I am on this cool and gray weekend morning reading — really reading — the messages and love notes friends sent to Taylor in celebration of Valentine’s Day. As I read their many thoughts and memories, I’m overwhelmed with the love, kindness and appreciation for my sweet girl. Each letter touches my heart in a special way.

There is a beautiful and frame-worthy drawing from Taylor’s cousin, Morgan. The drawing is bursting with Taylor’s preferred purple and pink.

Cousin Madi described Taylor using each letter of her name: Terrific, Appreciated, Youthful, Lovely, Optimistic and Resilient. Right on, Madi — I agree! Taylor has a lot to share about the value and power of optimism. I wish more people could know her and benefit from this important lesson. Talk about changing the world. And resilience? I’m immediately reminded of visitors to our home after Taylor lost her vision. Taylor would dash around and run up and down the stairs without her white cane. I always got a quizzical look that said, “I thought she was blind.”

Our friend, Linda Talmadge, has long served as Taylor’s “Director of Mischief,” and her leadership skills have not gone unnoticed. In her three-page letter, Linda shared memories of catching a five-pound bass on a hot summer afternoon in the Ormond family pond. I’m not sure we expected to catch anything, but we did, and we ate it.

big fish

Linda also assumed the role of assistant to Taylor’s physical therapist and occupational therapist when needed. When Taylor struggled with aquatic therapy, Linda showed up wearing her bathing suit, jumped into the water and sang the Carolina fight song as she helped Taylor walk in the pool.

There were the afternoons when Linda and Taylor danced around the house to “Go You Chicken Fat, Go.” (You’ll only understand if you were a child in the 1960s.) There were trips to peach orchards (it’s therapy when you reach overhead and pluck the peaches from the branches) and strawberry fields, where we picked buckets of berries. Those orchard trips always happened in the name of therapy, but the fruit was certainly a bonus. We made bread (stirring is therapy!) and Rice Krispie treats, because again, it’s good therapy. Eating all of the treats also served as emotional therapy. And as for all of those sunny afternoons filled with singing to Linda’s harmonica accompaniment…’nuf said.

I wish that I could single out each and every card and note Taylor received in this post. When I read the message from our longtime family friend, Polly, I smiled thinking of Taylor dancing on Polly’s hearth.

Thanks also to the folks at Abeona Therapeutics for the many cards and messages of care and encouragement. Abeona is named for the Roman Goddess who protects children. Thank you for being a testament to your namesake.

I’ll end with Linda’s closing thoughts to Taylor:

Taylor, I could write forever for I have had a front row seat watching you grow up. You showed me the joy there is in celebrating the moment and having fun just for the sake of savoring the day. There is freedom in not worrying what others think, or what tomorrow may bring or what society may view as important. There is love in holding hands, being together and sharing secrets. There is peace in simply embracing the art of living.

I knew freedom, joy and love before my friendship with you began. You taught me that they can come at unexpected times from unexpected places. Perhaps that is life’s greatest lesson.

Respectfully submitted,

VP of Mischief

Linda Love Talmadge

Linda and Taylor


Love Notes to Taylor for Valentine’s Day

By Laura King Edwards

I get paid to tell stories, yet I’ve always struggled to find the right words to tell my sister what she means to me. It became even more difficult after she lost her ability to talk, turning our verbal communication into a one-way affair. But for Valentine’s Day this year, I wanted to do something special to show Taylor how much I love her.

Which got me thinking: given the chance, what would other people say to my sister on a day set aside to celebrate love and affection? People whose lives Taylor has touched, or whose actions and words have touched hers?

That’s why, on a cold day in January, I sent a simple email request to friends and family, asking them to send “love notes” to Taylor. How has she changed their lives? What are some of their happiest memories of her? If they could say one thing to my sister, what would it be?

I hoped and prayed I’d get at least a few responses – enough for a short blog post or a few photos on social media.

I should have known better. In fact, I had to create a separate folder in my inbox for all of the typed responses I received, and when I returned home after a week in Arizona, I’d received so many written letters, they almost didn’t fit in the box.

Now, what started as a small, simple idea has become one of my favorite projects since we founded Taylor’s Tale more than 10 years ago. My sister’s valentines are scattered across my desk and the floor of my home office. Their heartfelt words echo in my mind when I lie in bed at night. They are a physical rendering of real love for my sister and our family. A reminder of how that love is changing the trajectory for children and families who have and will receive the devastating diagnosis of Batten disease.

I hope you enjoy reading Taylor’s love notes as much as I did.

Dearest Taylor,

I will always remember the special day — where I was, the time of day, the circumstances, and the weather — when I learned your mom was expecting you. Your mom was president of the Junior League of Charlotte, and the two of us were finishing up a meeting at our home away from home, the League building, when she said that she had some news.

I followed your mom to her League office and walked through the door. We were about to get on a chartered bus and go on a tour of Charlotte. I can still see her now, standing behind her desk, and then she bent down to get something out of a drawer. Then she stood up and said, “I’m going to have a baby!”

I was so surprised, and it took about two seconds for surprise to turn into utter joy. I fell in love with you right then and there while you were nestled, safe and sound, a little miracle God was sending our way.

You were eagerly anticipated and completed the King family. No child could be more loved, adored and treasured.

I talked with your mom right after you were born and saw you for the first time soon after. This memory I share is one that I will hold in my heart forever. Your life has touched my life in innumerable ways, and I love you and am grateful for you and for your family.

With love,

Jane

Dear Taylor,

I wish I could have known you as you were. I wish I could have known you as you should have been. I mourn for what might have been, but I celebrate the future that you have inspired. You’ve had a greater impact on me than you could imagine. Enough to change the lives of many children that you and I have never met. One day in the future, you and I will talk, and we’ll look at all the kids that you’ve helped. We’ll look at the movement that you inspired. I’ll tell you the little piece that I know of “Taylor’s Tale,” the amazing story that it is.

With love always,

Steve

Dear Taylor,

Where do I start?  You, dear Taylor, have changed my life. I have often questioned some of the decisions I have made in my life, but you are the reason I no longer do that.

You, dear Taylor, have made me realize my purpose in life, and that is to fight for those patients and caregivers living with rare disease. You are the reason I met your amazing mother, who is my hero. She is relentless in fighting for all of those living with rare diseases, and she is making a difference in so many people’s lives because of you, dear Taylor.

Dear Taylor, you are such a brave, beautiful soul. You are a fighter, a warrior who is living a life to help so many people. You are a trailblazer to lead us all down a path that can improve the quality of life of so many people. If not for you, dear Taylor, I would have never had the pleasure to meet your wonderful mother, who is like a sister to me.

You have been so instrumental in a campaign to change the world and make it a better place for those living with rare disease, and we are all so grateful for the gift of light you shine on us each day.

Happy Valentine’s Day, Taylor, with much love and admiration.

Tara

Dear Brave, Beautiful Taylor. I so admire you for being so strong and inspiring throughout your journey. During my recent illness, breast cancer, I thought of you often, and how you are always smiling.

Lots of hugs,

Ricki

Dear Taylor,

Through the years we have shared some fun times together. Before you were born, I spent a lot of time with your grandmother — in fact, I considered her one of my best friends and one of the nicest people I have ever known. She was always telling me stories about you when you were a baby — then later, when you learned to walk and talk – and still later, when you liked to sing and dance. We both had grandchildren, so one of our favorite things to do was to talk about what our grandchildren were doing.

One night when you were visiting her in Raleigh, your grandmother and your family wanted to go out for a few minutes, so Cecil and I said you could stay with us. Cecil and you got back to our house before I did, and when I drove into my drive, I could hear music blaring out to the driveway. I wondered what was going on and who was playing that music. When I walked into the living room I saw that it was you — you knew all the words to High School Musical and had decided to put on a show for Cecil and me. You used the hearth on the fireplace for your stage and the hall outside the living room for your offstage area.

You were beginning to lose your eyesight just a little, and I was so worried that you might fall, but no — you just hopped up on the hearth and sang your songs, took a bow, jumped down and ran to the hall. Then came act two, when you rushed back onstage and sang more songs from the movie. You knew all the words to the songs from High School Musical and sang them beautifully. You were still performing when your mom came to pick you up. What a happy evening that was for Cecil and me!

I also have beautiful memories of the first playathons when you came to hear the students play for you — one after another. You would sit all afternoon just listening to the piano solos. We tried to give you some refreshments, but even as young as you were, you seemed to prefer to listen to the music than eat cookies. I always think of you when I listen to music, because I saw what joy music brought to you.

I did not know your mom as a young girl but got to know her through Halloween parties and sharing trips to see A Christmas Carol before you were born. I did know your brother and sister a little when they were young. But through the years, I have gotten to know your whole family through you, and that is a wonderful gift you have given me. You have given so many gifts to so many people — your life has brought people together and taught us how to love — your smile lights up the room and makes others smile — the way you strive to do your best makes others want to do their best — and when you do not complain, it makes us ashamed of when we complain — and your love of music inspires us all to stop and listen and enjoy.

Taylor – you are a gift to us all.

Polly

Dear Taylor,

You don’t know me well…but when I found out you could still enjoy your sense of smell, it made me pay more attention to the things I’ve planted in my garden. I have tried to bring them for you to enjoy as well as your family. I’m not sure how I helped you…but you have changed how I look at things…through the eyes of one who can’t.

Xoxo

Geary

Taylor,

I remember watching you and your PFO buddy, Nicole, during the visual art event we had at Creative Campus. The connection between the two of you is so beautiful, and to watch you both creating art together filled my heart. Then, it was such a gift to be able to honor Taylor’s Tale and create a stunning dance piece. Thank you for inspiring everyone around you…you are so loved. 🙂

Big hugs,

Jen

I remember getting the page that told me about Taylor and said the words, “Batten disease.” I had no idea what that meant, so I went home and looked it up.

Frankly, what I saw scared me. I didn’t know how to get close to someone who potentially couldn’t walk or talk or plan into her adulthood. All of the things that I was thinking about with college on the horizon were things I knew this girl I was going to meet would miss out on. So how was I supposed to relate to her?

But this is no sad story. I met Taylor at the first Playing for Others buddy event, and my fears could not have been more shattered. Taylor was probably the most expressive child, or I should say teen, at the event. We made art and music and explored Discovery Place throughout the year; at each place, she smiled and laughed and took on every activity with her whole heart. At each place, she also taught me a new lesson. The first thing Taylor taught me: you don’t have to see to know what’s going on or appreciate your surroundings. And by this, I mean not just physically view what’s going on, but that life is more about the feelings. The feelings you get when you do something you love, or when someone is kind to you. The feeling of being in a room full of people letting loose and having fun! The feeling of being reunited with someone you haven’t been around in awhile. All of these things aren’t great because of the sight, but because of the overwhelming emotions that accompany them and make those moments joyful.

On top of this, Taylor taught me no challenge is too large. Some days are hard, and some days are easier, but each day is a blessing, and it is important to do what you can each day.

The last really big thing that Taylor taught me, amongst many small life lessons, is that keeping your head up and your heart open makes a world of difference. Even with what most of the world views as limits, Taylor is more open than anyone I know. Project openness and kindness, and that’s what you’ll receive in return. I can’t even begin to write everything Taylor has meant to me, but she sure did change my perception of reality.

Taylor — I just want to thank you for challenging me every day to see the world through better eyes and take each day by storm. You will always have a special place in my heart.

Nicole

It has been a long time since we have seen Taylor and your family in Portland. I appreciate Taylor and your family for showing me that the love between family members can move mountains. My small experiences with Taylor are a reminder to those of us in healthcare to keep patient and family needs at the center of the care we provide. Keep reaching for answers, keep asking for support, keep challenging us to do more, think harder and bigger, be better.

Best to you — a hug to Taylor and your parents — I think of you all often.

Cheers,

Susan

Dear Taylor,

Where do I seriously begin? I am SO truly honored that I was given the opportunity to be your teacher for six years!

I will never forget that day I first met you. You walked in with the prettiest blonde hair and spunkiest little personality. You talked my ear off as if you knew me your whole life. At that time you were only in third grade, and little did I know that I would have the chance to teach you for six years!

When I was given the news that you had Batten disease and that I was going to be your teacher, I was determined to keep your little brain going! We were going to fight a hard fight with this ugly disease!

People told me you would never learn braille and to not even try to teach you, but I knew you could do it! We became a team! You were determined, and so was I. You worked so hard at braille, both reading and writing it. I was so amazed that a little girl who had lost her vision so fast was able to learn a new way of reading and writing. What I love about you, Taylor, is you did it with pride and surprised everyone around you. You never gave up, said it was too hard or complained. I admire you for that. If we all could have the determination you have, this world would be a better place.

One of my favorite memories of you is when we played Braille Twister. We would laugh so hard twisting our bodies, falling all over the place while reading braille at the same time. At the end of the day, we would have a party for working so hard. You wore high-heeled glitter shoes and danced and sang to your favorite music. There wasn’t a song you did know! You reminded me so much of myself when I was your age, singing and dancing like no one was watching! It would put a smile on my face every time I was with you.

We spent a lot of time together T, and not all of it was happy. We cried together and talked about things that would break my heart. I saw with my very own eyes how Batten was robbing you of your childhood. It was so unfair. No little girl should ever go through what I witnessed. Gosh I miss you! I miss talking to you and hugging you.

I feel so privileged that you came in my life and taught me so much. You made me a better person and teacher. You are an angel on Earth that has changed so many lives. Thank you for changing mine.

I love you always,

Ms. Jill — your vision teacher

T,

You stole my heart and blessed me with your beautiful soul. I am in awe of your tenacity to fight and prove that the “typical” doesn’t apply to you! You’ve been such an inspiration to me, and I think of you daily. I will forever be grateful for the time I was blessed to share with you and your wonderful family. Love you girl!

Dawn

Taylor,

You have meant so much to my life, and every single moment with you is a blessing. One of my favorite memories of our many days and weeks in Portland was taking the streetcar to Pioneer Mall, where we would make our way to the fountain to make wishes and toss pennies. After a required stop at the candy shop for jelly beans, it was on to Starbucks for Scrabble and decaf lattes.

You have taught me many lessons of life: you have turned fear to courage, despair to joy, trepidation to anticipation, you inspire words to become actions, and mountains to move, and…you turn darkness to light, and then the path is seen.

Taylor, I love you more than life itself! Happy Valentine’s Day, my precious Taylor.

Dad

Dear Taylor,

You came into my life as a surprise, but I know now that you were meant to be. At 40, I still had a lot to learn about life, love and priorities, and you were a good teacher. I was always so busy when Laura and Stephen were little. Your sassy little self made sure to remind me what’s important in life.

When I learned my third child would be another daughter, I told your grandmother that I certainly hoped you would be a girly girl. (Your lovely sister was such a sports-loving tomboy!) Grandma Kathryn simply said, “Be careful of what you wish for.” Your love of fashion and ability to accessorize — legendary! How many trips did we make to Claire’s for jewelry and hair bows (always followed by decaf lattes at Starbucks!)?

Your siblings never hosted birthday parties for the dog, but you did…multiple times. Cookouts with cake, streamers and party hats. And canine guests.

I wouldn’t trade the hours we sat cuddled in a chair watching The Little Mermaid for anything. You knew every word to every song. In fact, you loved to sing and dance so much, I was convinced you would someday be a star on Broadway.

Yes, Taylor — you have been an unexpected blessing and, indeed, a bright star helping to change the world in more ways than you know. You have changed my world — you changed me. The key to happiness has new meaning because of you.

You are so loved, Miss T. Happy Valentine’s Day, Sweet Girl!

Love,

Mom

It’s not too late to send a valentine to Taylor. Share your love note with us via email now, and I’ll make sure she receives it! Send a Love Note


How I Found My Second Wind in Arizona

By Laura King Edwards

Normally I preach the importance of regular updates, but I’m breaking all of my own rules lately. This year didn’t exactly get off to a rough start, but I’ve had a lot on my mind these long, cold winter days, and I’ve started and abandoned my fair share of blog posts.

I can say the same for my running. That’s why I didn’t expect to post a great time at Arizona’s Sedona Half Marathon, my 21st half marathon in my 20th state. I kicked off a new fitness program late last fall and packed on about five pounds of muscle, but since the Rehoboth Beach Half Marathon in early December, I’ve gone for a run longer than eight miles exactly once. Not a recipe for success in a hilly, 13.1-mile race at an average altitude of about 4,600 feet above sea level.

Good thing none of these races are really about speed. Specifically, I dedicated the Sedona Half Marathon to my sister and to the late Celia Betz, a beautiful little girl from Ohio whose battle with infantile Batten disease ended three years ago this January. Celia’s aunt, Cherie, lives in Sedona, and Celia suffered from the same form of Batten disease as my sister, Taylor. I couldn’t wait to run those crazy hills below Sedona’s red rock cliffs for the sweet redhead whose family continues to fight Batten disease for others.

Celia

Race day conditions couldn’t have been more perfect. Yes, it’s early February, but this is the Arizona desert, and the temperature hovered around 50 degrees when I slipped into the corral at 9 a.m. (the unusually late start was another gift – I’m often up at 4 a.m. for races). Red cliffs dotted with emerald green vegetation blazed against a cloudless azure sky.

Sedona Marathon start

I started out strong, but those hills kept coming…and coming…and coming. I walked through every aid station, and sometimes I took two cups of water. I stopped to pee three times – something I never do as a runner who obsesses over her mile splits. My inner thighs chafed so badly they almost bled, even though I ran in the lucky shorts I’ve worn for all but one warm weather race. Throughout a brutal mile-ten climb that seemed as if it would never end, I kissed the “4 Taylor” scrawled on my hands in purple marker and touched Celia’s photo, taped to the back of my race bib.

And then, suddenly, I’d left the magical Red Rock-Secret Mountain Wilderness area and returned to town, where I discovered my legs no longer hurt and my lungs filled with air and I sprinted across the finish line as the clock struck 1:58.

Sedona Marathon finish

I still don’t understand where I got that second wind, but before I reached the end of the long finish chute, I knew I’d need to summon that kind of magic for the bigger challenge ahead of me. I know 2018 won’t be an easy year for my sister or our family. I know it will be a year of change. And just like those hills in Sedona, I know I’ll need every ounce of strength I have to face it.

And every time my breath quickens and my heart clangs in my chest, I’ll think about those two simple words – 4 Taylor – and I’ll keep my head up and smile and face it, whatever “it” may be.

Note: Taylor’s Tale is funding the creation of the first Standard of Care for infantile Batten disease. Our family and Celia’s family could have benefitted significantly from such a roadmap, which should take some of the guesswork out of disease management and allow healthcare providers to offer improved quality of life for patients and their families. You can help by donating to my fundraising campaign for Taylor’s Tale. I personally fund all race travel and related expenses, so every penny raised supports the cause. Thank you! Donate Now


The Bell Still Rings for Me

By Sharon King

Sweet Taylor…always a lover of fairy tales, princesses and Christmas.

While her mom wasn’t prepared for holiday decorations at the mall the day after Halloween, Taylor delighted in the magic of it all. It was NEVER too early for her.

When Batten disease claimed her vision, I worried that Taylor would be robbed of her Christmas joy, so I simmered oranges and spices on the stove to help her smell the Christmas she couldn’t see. Even though The Nutcracker was a family tradition, I struggled with buying tickets each year as the disease became more and more apparent. It’s a ballet…you have to be able to see it, right?

Looking back, I realize that Taylor never allowed Batten disease to steal the beauty or the meaning of the season. It wasn’t a problem for her, as it was for her mother. I think she held the lights and sparkle in her mind’s eye. As for The Nutcracker…even today, she wears a most lovely smile when the music begins. When I tell the Christmas story, she holds the wooden manger a friend made for her, and I believe she remembers.

“At one time most of my friends could hear the bell, but as years passed, it fell silent for all of them. Even Sarah found one Christmas that she could no longer hear its sweet sound. Though I’ve grown old, the bell still rings for me as it does for all who truly believe.” ~Chris Van Allsburg, The Polar Express

Oh, the things I’ve learned from Taylor about appreciating that which is most important, turning negative into positive, and believing in miracles and dreams come true. Ten years ago, I was told that any treatment for Taylor’s disease was so far off, it could not come in her lifetime and maybe not even in mine.

That dream of dreams should come true in 2018 with the start of a clinical trial. Children like Taylor will be given the gift of hope — hope made possible in part by the many people who support Taylor’s Tale.

Yet, while we are making real progress for so many children and their families, important work remains. Specifically, we seek to fund the development of the first Standard of Care plan for infantile Batten disease. This plan will address quality of life issues and help doctors and care teams manage infantile Batten disease. It remains crucial even as treatments become viable.

Batten disease has stolen much from Taylor and her family, but the sweet sounds of Christmas still ring clear and strong for us, as it does for all those who truly believe. Thank you for joining us in believing that a better life for children like Taylor will always be a gift worth fighting for.

Wishing you peace, hope and dreams come true in this holiday season and the New Year,

Give the Gift of Hope


6 Ways to Turn Tragedy into Opportunity

By Laura King Edwards

My mother never really liked the word ‘hope.’ “Hope feels empty,” she said one day early in my sister’s fight against Batten disease. “Hope is waiting for someone else to make your life better.”

Instead, we built our mantra on the word ‘believe’ — which sounds a lot like ‘hope’ but really isn’t the same thing at all. And for 10 years, our belief drove us in our relentless effort to beat the rare brain disease killing Taylor. Viewed one way, it worked: we championed many research initiatives, including a novel gene therapy approach that sick kids could receive in a clinical trial starting in 2018. We could quit now knowing we achieved our original goal — produce a potentially lifesaving treatment for infantile Batten disease.

But there is a next chapter to Taylor’s Tale. That’s the message we shared at an event this month celebrating our 10th anniversary and the friends and donors who support our work. And that night, as I listened to our keynote speaker, Dr. David Fajgenbaum, I thought about the role hope will play in the coming days and months and years.

David knows a little something about hope. Once a star athlete known to his friends as the Beast, he was diagnosed with a deadly illness called Castleman disease during medical school in 2010. He’s alive today because of his single-minded mission to take on his own disease.

Despite Mom’s initial disdain for the word, hope is crucial in the fight to save people like David and my sister, Taylor. Hope is necessary to overcome any kind of struggle, no matter the severity or scale.

But hope alone is not enough.

If you really want to turn tragedy into opportunity, do these six things:

  1. Have hope. Hopelessness sounds the death knell for any battle, no matter the circumstances. If you don’t have hope, you won’t succeed. It’s that simple.
  2. When hope is not enough, turn hope into action. When the stakes are high and the road leads uphill, hope isn’t enough. Hope is easy. Acting on hope takes more effort. You can wait for something good to happen. You might even get lucky — the first time. But the good won’t last. If you want to create real, tangible, measurable change, you have to act on that hope. You have to do something.
  3. Be willing to make sacrifices. If you want to win the toughest battles, you have to be willing to make sacrifices — whether those sacrifices take the shape of time, money, or other interests or goals. You won’t create the kind of change you want to see on 50 percent effort.
  4. Play through overtime. In his keynote address, David talked about the multiple relapses of his disease since 2010. Each time, he came close to death, even receiving his last rites. But each time, he bounced back. David came to see his life after these relapses as overtime periods, which only fueled his passion to find a treatment for Castleman disease. And, he argues, we’re all in overtime, because tomorrow is never a guarantee. Approach every day like you’re playing through overtime, because every day is a gift.
  5. Stay positive. This is something I’ve personally struggled to do in the 10 years since my sister’s Batten disease diagnosis. It’s hard to have a positive outlook when it feels like the world is crashing down all around you. But I’ve realized life is a lot more pleasant when I focus on the aspects of my life that are good. And that gives me the strength to fight all the stuff that’s bad.
  6. Believe in possible. Doctors didn’t think David would survive Castleman disease. And people questioned the likelihood that a tiny, all-volunteer team could tackle Batten disease — a monster that eluded science and medicine for more than 100 years. Norwegian explorer, scientist and politician Fridtjof Nansen once said, “The difficult is what takes a little time; the impossible is what takes a little longer.” Today David is in his fifth overtime —at 45.45 months, his longest remission since 2010. And Taylor’s Tale needed 10 years to accomplish what most saw as a stretch goal that bordered on impossibility.

It didn’t take long for Mom to warm up to hope. Today, she likes to say that hope comes in different boxes — different shapes and sizes, but always a gift. And while the change Taylor’s Tale helped create came too late for Taylor, the hope is real. Real treatments for real people, coming to life at a rapid pace. And yet, our work is far from done.

In the coming days and weeks, we’ll share more details about a central theme of our next chapter — the development of a care management plan to address the needs of patients suffering from infantile Batten disease right now. This plan will provide a lifeline for desperately ill children and their families. I’m excited to bring more big and worthy ideas to reality, and I hope you’ll join us for the ride.


Chasing Goals in Montana

By Laura King Edwards

Six weeks ago, I set an ambitious goal for the Missoula Half Marathon in Montana. I’m running in all 50 states to honor my sister and support millions fighting a rare disease. And for state number 18, I wanted to run the fastest 13.1 miles of my life.

Missoula Marathon banner

The Missoula Half Marathon had the right ingredients: a flat, fast course and more comfortable summers than my Charlotte hometown. Even better, at 35 years old and almost 20 half marathons into this running thing, I was finally in the best shape of my life.

For a long time, it looked like I’d achieve my goal of a sub-1:40 half marathon, meaning I’d have to average better than a 7:38/mile pace. I nailed my speed workouts, and at the end of 90-minute long runs, I sometimes felt like going for another 90 minutes.

Then, race day arrived.

Missoula Half Marathon start

I started out well enough. For the first four miles, I stuck close to my goal pace.

Then, the wheels fell off. I never felt tired, but my legs felt like lead. Worse, they didn’t take well to the cut of the new running shorts I’d packed for the race; as a result, I had such awful chafing on my thighs that in the later miles, every step made me want to scream out in pain.

As I often do, I tried to focus on everything but my own pain and my body’s inability to follow instructions. I watched the Montana sky. I listened to the music of the man wearing a tuxedo and playing a grand piano in his front yard. I ran through every sprinkler, even though the temperature never broke 80 degrees. I thought about my sister, Taylor, and how if she wasn’t sick, she’d be there beside me, giving her best through the last .1 mile.

But my sister can’t run anymore. She can’t even walk. And my legs. Just. Wouldn’t. Go.

I did almost everything right in the weeks and days and hours leading up to the race. But running-wise, it wasn’t my day. In fact, I crossed the finish line short of my sub-1:40 goal by a full 10 minutes, well off the PR I’d set on a tougher course three years ago.

But I accomplished my other goal in Montana. I had a nice interview with Missoula’s ABC/Fox affiliate at the finish line. That followed a 15-minute radio interview and a nice story in the Missoula Current.

Missoula TV interview

I spread the word about Batten disease and maybe even inspired some people to give to Taylor’s Tale. And supporting kids like my sister means a lot more to me than my own performance.

I love you, T. You’re always with me!

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Why Batten Disease Awareness Matters

By Judy Mayer

Each year during the first weekend in June, the Batten Disease Support and Research Association (BDSRA) and other patient organizations recognize Batten Disease Awareness Weekend. This Saturday, June 3 and Sunday, June 4 are dedicated to sharing the need for critical research and support for affected families.

My First Known Encounter With a Rare Disease

I still remember the day 20 years ago when a rare disease first attracted my attention.

I was attending a young friend’s soccer game when the father of another player arrived at the field in a wheelchair. Previously the picture of health, this 40-something man and his pretty, petite wife once walked to the playing field, cheerfully talking to other spectators and looking forward to a good game.

Now the wife struggled to push the enormous wheelchair of her clearly disabled husband.  Now they hated to look forward at all. 

I subsequently learned that this man had ALS, also known as Lou Gehrig’s disease. In an instant, one visit to the family doctor and one diagnosis had irrevocably changed his life and shattered his family’s emotional security.

Over the next few years, I saw this man at other games, school plays and moving-up ceremonies…the milestones great and small that create a life. Each time I saw him, the disease had taken away more of his capabilities. His family, though dedicated to involving him in their activities to the extent possible, increasingly showed the signs of stress that result from bravery in the face of overwhelming odds.

After his passing, this man’s story stayed with me – a reminder that life is a succession of surprises, some awesome and others awful.

Batten Disease Enters My World

I immediately recalled this man and his battle with ALS when my friend, Sharon King, called to ask me to serve on the board of Taylor’s Tale, founded in the name of her precious daughter who has infantile Batten disease. 

Another life, and another family devastated by the diagnosis of a rare disease. But this time the news was a bit closer, within my circle of friends.

Of course, I responded. I would do whatever I could to help. That’s what friends do for each other. And perhaps along the way, I would support a worthwhile contribution to humanity. 

While my actions were commendable, there remained a certain detachment. And in truth, a sense of relief that I was helping their family, supporting their efforts to deal with a rare disease.

Rare Disease Hits Even Closer to Home

After I’d been involved with Taylor’s Tale for some time, my adult daughter called to tell me she had health issues that could possibly be attributable to a rare disease.

I was shocked. Even with experience as a rare disease advocate, I was totally unprepared for the wave of fear that swept over me.

Another diagnosis, another life threatened and another family facing the unthinkable. My previous detachment crumbled, replaced by sheer terror. This time it was my family.

Ultimately, my daughter’s health issues were determined not to be the result of a rare disease. But while I am eternally grateful, I will also never forget the sense of helplessness and despair created by even the possibility.

The truth is that rare disease is closer to all of us than we want to acknowledge. One in every 10 Americans has visited the family doctor thinking that a random symptom will be cured by a wonder drug or possibly surgery, only to learn that getting a rare disease diagnosis is challenging, treatments are not assured, and cures are too often years in the future – maybe not in time for them. 

The other tragic truth about rare disease is that rare diseases are not at all rare. But the encouraging fact is that each of us can bring real hope for a better future by supporting organizations like Taylor’s Tale and BDSRA – organizations that are truly improving the prospects for rare disease patients. To do so, we have to be present 365 days a year, not just for a single weekend in June.

Rare disease patients are our neighbors, colleagues, parents, spouses, children…ourselves. Detachment from the reality of rare disease creates an illusion of safety and normalcy that is but one diagnosis from vanishing.

No one ever seeks to join the rare disease community, but we are all members nonetheless.


Why the First Approved Treatment for Batten Disease Can’t Be the Last

By Laura King Edwards

Today I’m celebrating a milestone for the Batten disease community: one form, late infantile NCL (LINCL), now has an FDA-approved treatment. The FDA granted approval for the enzyme replacement therapy to BioMarin Pharmaceutical Inc.

Like everyone at Taylor’s Tale, I’m committed to building a better future for kids like my sister, and I’m proud of my friends whose passion and hard work made this incredible achievement possible for kids suffering from LINCL.

But on one of the biggest days for families like mine in the 114 years since a British pediatrician first described Batten disease, I think it’s important to remember that Brineura, the first FDA-approved treatment for any form of Batten disease, is a checkpoint. It’s not the finish line.

There are at least 13 different forms of Batten disease. Each is genetically distinct, caused by different genes. That means even similar forms, like infantile Batten disease and late infantile Batten disease, might respond differently to various treatment approaches.

When the highly publicized case of Charlotte and Gwyneth Gray, whose family founded CureBatten, grabbed national news headlines in the past two years, some friends asked me if I was relieved that Taylor’s Tale no longer had to fight for kids with Batten disease. (You can read my blog about CureBatten here.) What those friends didn’t understand is that the gene therapy treatment the Gray girls, who suffer from a variant form of LINCL, eventually received in a clinical trial at Nationwide Children’s Hospital can’t be administered to kids with INCL, JNCL, or any other form of Batten disease. That’s because the Grays’ gene therapy treatment addresses a different gene and is delivered via a different method than the INCL gene therapy treatment developed by Dr. Steve Gray in North Carolina, work we helped fund.

Besides the fact that all of these forms of Batten disease are genetically distinct, it’s also important to understand that with any disease, some patients will tolerate certain treatment approaches better than others. My father-in-law passed away from lung cancer late last year after a near-three-year battle. In a 35-month span, he was treated with chemotherapy, radiation, surgery, a drug trial, and likely other things I’m forgetting. He took some treatments like a champ, even going into remission several times. He couldn’t tolerate other treatments. And I’m willing to bet every lung cancer patient in the clinic where he received care had a different story.

The world is a better place when patients have options.

If you care about kids like my sister, or if you love someone like my sister, you should celebrate today. Today is an example of what can happen when families aren’t willing to take ‘no hope’ for an answer. Families who keep fighting even after their own children are gone. Families who believe even when they know that bright future isn’t their bright future. I just don’t think it means that after we eat a piece of cake and celebrate, we should move on and forget about all of the kids who still desperately need us.

My mom told me that this afternoon, she was writing a Facebook post about the FDA approval for Brineura. But then Taylor had a bad seizure, and she never finished the post.

“It was like she was saying, ‘Mom, you’re sitting over there celebrating, but you’d better celebrate fast. You still have work to do.'”

I’m thankful for progress. This is one of the greatest days in my own 11-year journey to beat Batten disease. But I’m still fighting for a reason.