The Launch of a Trial, and the Light at the End of the Tunnel

Published: February 15, 2015 ~ 0

By Laura Edwards

Nearly five years ago, when my sister could still sing and talk and walk and eat ice cream cones on hot summer days, my mother met Steve Gray, a young investigator from the University of North Carolina Gene Therapy Center, at a conference in Bethesda. Since 2008 he’d been working on giant axonal neuropathy (GAN), an ultra-rare, fatal childhood disease that causes progressive nerve death.

A few months later, we drove to Greensboro to have dinner with him. We weren’t ready to take the leap then, but Mom believed in Steve since the first time she heard him speak about his effort to save children from a monster that turned them into quadriplegics unable to eat or breathe on their own. When I sat across from Steve in our booth that night, I believed in him, too. continue reading →

The Hardest Question

Published: February 10, 2015 ~ 14

By Laura Edwards

When friends ask how my sister’s doing, I don’t know what to say. Explaining gene therapy comes more easily to me than answering that question. And I majored in English.

Taylor has “good” days and bad days. But Batten disease has forced us to adjust our expectations.

My sister has fought a brave, tough fight for many long years. She’s overcome a learning disability; gone blind; struggled with her speech; lost her voice; suffered seizures; gotten a wheelchair and a feeding tube. But she’s also learned to read and write in braille and walk with a cane and run two 5K races without the gift of sight. Most of all, she’s never forgotten how to laugh. continue reading →

Running for Taylor in 50 States: World Rare Disease Day

Published: February 7, 2015 ~ 0

By Laura Edwards

When I crossed the finish line of Charlotte’s Thunder Road Half Marathon blindfolded in November 2013, I knew the race would be a tough act to follow. But I didn’t intend to stop running for my sister, Taylor, and our fight against Batten disease and other rare diseases.

On National Running Day 2014, I shared my plan to run a race in all 50 states – a feat not as rare as running 13.1 miles blind but one that I hope will help me spread our story far and wide.

Three weeks from today, I’ll run my second race of 2015 in the great state of Texas: the Woodlands Half Marathon outside of Houston. continue reading →

Why World Rare Disease Day Matters

Published: January 28, 2015 ~ 0

By Laura Edwards

There are a million special recognition and awareness “days.” I worked in healthcare for eight years. Many of the patients and families and doctors and nurses and service line leaders I worked with throughout those eight years had a day that was special to them because it recognized not their disease or condition, but the courage and strength it takes to face the disease each day and the determination and belief in miracles it takes to fight for a better tomorrow. Even if some days are so dark you can’t see what’s coming. continue reading →

Run or Walk for Team Taylor’s Tale on January 31

Published: January 18, 2015 ~ 0

By Laura Edwards

In February, I’ll knock out the first state of 2015 in my quest to race in all 50 states for my sister Taylor and the fight against Batten disease. Originally I’d planned on taking January off, but it’s been two months since Charlotte’s Thunder Road Half Marathon, and I’m antsy. So on a whim I signed up for The Village 10K in Waxhaw, right outside of Charlotte, on January 31.

I’ll be running for Team Taylor’s Tale in Waxhaw that day, and if you live in Charlotte or close by, I hope you’ll consider joining our team for the 10K or 5K event. continue reading →

Running for Taylor in 50 States: 2015 Preview

Published: January 2, 2015 ~ 2

By Laura Edwards

The winter running season is long and lonely. Marked by cold, short days and diminished race calendars, it can make even the most allergic runner long for the blossoming of spring. I ran my last major race at Charlotte’s Thunder Road Half Marathon in November, and I have eight more weeks to prepare for my first race of 2015. I can’t wait to get back out there for my sister Taylor. continue reading →

Love Song to 2014

Published: December 31, 2014 ~ 4

By Laura Edwards

This year got off to a rocky start. Never much for flashy New Year’s Eve parties, John and I joined my parents and my sister Taylor for a simple dinner at one of our favorite local pizza places. We felt sure we’d made a safe choice. But the staff had distributed noisemakers to the kids packed into the family-friendly restaurant, and the shrill sounds reverberating off the high ceiling sent Taylor spiraling out of control.

Before the pizza came she was lost in a new kind of seizure we’d never witnessed before. We whisked her out of the restaurant and back to my parents’ house, where we tried in vain to pull her out of a black hole. Though that episode ended, we all knew even then that it was a harbinger of things to come. We knew 2013 was officially over and life would never be the same. As if on cue, Taylor’s first wheelchair arrived on Mom and Dad’s doorstep several days later. Then this summer, when my sister should have been swimming at the pool or going to camp, she spent a week at Levine Children’s Hospital to have a feeding tube placed. This fall she underwent a second surgery, getting an implanted device that works like a pacemaker for the brain and is supposed to help control her seizures.

It’s been a tough year. But somehow my sister, whose voice Batten disease also silenced in 2014, still laughs at Stephen and John’s jokes and cracks a smile when she can sense the friends and family she loves are nearby. Somehow my sister, who at 16 has already lost more than anyone should have to lose in a lifetime, still finds moments of joy.

So as difficult as 2014 has been–as much as Taylor has lost and as painful as witnessing her immense loss has been for the rest of us–I have only gratitude here in the final hours of the year. Because every moment with Taylor is a great blessing.

What are your defining moments from 2014? What do you look forward to most in 2015?

Why I’m Still Fighting Rare Disease

Published: December 21, 2014 ~ 2

By Laura Edwards

By Sharon King

I checked on Taylor as she was sleeping this morning. She had the most beautiful and peaceful smile. It was one of those precious moments you remember forever. I wondered what she was dreaming. I often wonder what she feels, thinks, dreams and fears. Batten disease really has a hold on her now, but we still try to give her the most normal life possible. Whatever she feels, thinks and dreams, we pray for happiness and peace for things she may fear. That’s really no different from what any parent wishes for his or her child.

Parents commit to helping their children follow their dreams and giving them the tools to battle their fears. But when your child has a life-threatening, rare illness, parenting takes on a new dimension. Serving as a guide for dreams come true and battling monsters becomes bigger than our children. For many of us, it becomes more about all of the children past, present and future whose dreams and fears include rare disease. I’m there.

It’s been nine long years since Taylor’s diagnosis. I imagine many people wonder why I continue to fight, why I still believe.

Rare is not an excuse. It’s too darn easy to write off rare disease as “unfortunate.” It’s definitely unfortunate, but it happens more often than you might expect. There are approximately 7,000 rare diseases and disorders, and more are being discovered each day. Thirty million people in the United States are living with rare diseases; globally, it’s estimated that 350 million people suffer from rare diseases. About half of these people are children; 30 percent of them will not live to see their fifth birthday.
The costs are enormous, both in terms of human suffering and economic impact. According to our partner, the EveryLife Foundation for Rare Diseases, 95 percent of rare diseases don’t have a single FDA-approved drug treatment. During the first 25 years of the Orphan Drug Act (passed in 1983), only 326 new drugs were approved by the FDA and brought to market for all rare disease patients combined. Taylor takes multiple drugs, and we continue to add expensive medical equipment. Since January 2014, she’s visited the ER three times (once via medic) and had two separate hospital stays (one for six nights). All of this, and just to treat her symptoms—not the root cause of her disease. Just imagine the costs for Taylor alone in 2014. Then, multiply that by 30 million. Wait…go ahead and multiply the number in your head by the worldwide number of 350 million people. You can’t imagine it. It’s mind-boggling. What we have is a serious public health problem.

Did I give rare disease more than a passing thought before Taylor’s diagnosis? No, of course not, and if I did, it likely sounded something like, “Glad it’s not my family or me.” I know better now.

The problem of rare disease belongs to all of us. Each of us can do something to help. Significant progress can happen with greater awareness, advocacy and funding. And in the coming weeks leading up to Rare Disease Day 2015 at the end of February, I’m inviting other rare disease advocates to share their thoughts on how we can all get involved and make a difference.

We know the facts. The question is, will we talk, or will we ACT? Hope requires action, and there are 350 million people who need your help.

Yesterday, the Charlotte Observer printed this quote, always one of my favorites:

“I dwell in possibility.” ~Emily Dickinson

Please join Taylor’s Tale in creating new possibilities for people like Taylor. Together, we can change lives.

Wishing you joy, peace and beautiful dreams this holiday season and into the New Year.

Do you have an idea for how the average Joe or Jane can make a difference in the fight against rare disease? How can citizens help millions suffering from rare disease by applying their skills in areas like awareness, advocacy and fundraising? Leave a comment below or send us a note to join the conversation.

Christmas After Batten Disease

Published: December 11, 2014 ~ 2

By Laura Edwards

Family has always been important to me, and my family has always made a big deal out of Christmas.

Though my brother and I are grown and my sister is 16, I know that on Christmas morning, we won’t be allowed downstairs until my parents are ready and my dad has his camera phone locked and loaded. Santa Claus doesn’t wrap the gifts he leaves at my parents’ house, and when Stephen and I were little, Dad thought we’d try to sneak into the family room before dawn to peek at the goods. To foil our plans, he set booby traps, like paper Scotch-taped to the doorjambs and verbose notes from Santa’s elves warning us of the measures in place, from retinal scans and tripwires to claymores and drones. He always signed the notes with a smiley face and “Merry Christmas.” After Dad led our human train into the family room at an agonizingly slow pace and we dove into our respective piles of gifts, we dug into Mom’s homemade monkey bread and egg and sausage casserole and ate till we couldn’t eat anymore. It’s been years since I wrote a letter to Santa Claus, but Dad still sets traps and writes notes and leads the train every Christmas morning.

I still remember the first year Stephen and I had to help Taylor find her way to the family room. She’d lost her vision to Batten disease and was unsteady on the stairs in her nightgown and fuzzy socks. In time she’d develop such a keen sixth sense that she could fly up and down those stairs despite the blindness. But in those days my sister was still afraid of the dark. We all hoped and believed she’d find a way to beat Batten disease. Lying in bed at night I even imagined she’d see the light again one day.

So much has changed since my sister’s diagnosis in 2006. When someone you love is fighting a chronic illness with no treatment or cure, you fall into a habit of marking time by holidays and life events and how much things change from one to the next. I remember how difficult it was watching Taylor search for the stairs that first Christmas After Batten Disease. But now I’d give anything to have one day with my sister as she was then – still able to pull surprises out of her stocking and sing along to her favorite Christmas carols and eat Mom’s monkey bread at the dining room table. All normal things we take for granted. All things Batten disease has robbed from her.

I can’t go back in time, and I can’t cure my sister. But Christmas Day will still come, as it always has. And if loss has taught me anything, it’s taught me that life is about living in the moment and recognizing the good that you still have.