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.


Waterlogged in Minnesota

By Laura King Edwards

When I flew to Washington, D.C., for Rare Disease Day at the end of February, I was already signed up for Nevada’s Rally in the Valley of Fire half marathon on March 31. But on my way out of D.C., I stole a few minutes with my friend, Michelle Berg, in an airport Starbucks. And before I took the last sip of my chai tea, we’d hatched a plan for me to travel to Michelle’s hometown of Minneapolis for a 15K race (9.32 miles) just two weeks after my half marathon in Nevada. After a string of injuries, I’m careful about giving my body enough time to recover between races.

Sometimes, I break my own rules.

Michelle is more than just a friend; she’s vice president of patient advocacy at Abeona Therapeutics, a clinical-stage biopharmaceutical company focused on developing treatments for rare genetic diseases, like Batten disease. In 2016, Abeona added Dr. Steve Gray’s promising gene therapy work to its pipeline, validating our belief in the project at UNC. With a clinical trial on the horizon, our dream is coming true.

On Good Friday, I flew alone to Minneapolis to run the Hot Chocolate 15K with Michelle, marking state 17 in my quest for 50. I kicked off the trip with a talk at the University of Minnesota Center for Orphan Drug Research. I landed in Minneapolis just in time to catch a ride to campus and connect my laptop. It made for a crazy morning after a crazy week at home. But having the chance to share our story with a room of difference makers made it all worth it.

University of Minnesota gene therapy talk

The weather didn’t cooperate on this trip. On race day, the radar looked like this:

Minnesota radar

I’d hoped for sunshine and a slight breeze, but it didn’t work out, and I’d come a long way. I tried to ignore the weather and went through my normal routine, writing my sister’s name on my arm and caking the soles of my blister-prone feet with Vaseline.

Michelle was recovering from an illness but braved the nasty morning to run the 5K. We huddled in her car in a parking lot half a mile from the start line until the last possible minute. We wished for a break in the clouds even as rain hammered the windshield, but the break never came. Thirty minutes before the start of the 5K, we wished each other luck, said goodbye and went our separate ways in the gloom.

At the start of the 15K, I splashed through rain puddles as warm, fat drops pelted my face and soaked through my clothes. I picked and stuck with a pace group – for the first half of the out-and-back course anyway – and hoped the puddles weren’t hiding ankle-breaking potholes.

Hot Chocolate 15K start

I’ll be honest: at times, I wanted this one to end. I hear the Hot Chocolate 15K route along the Mississippi River is beautiful, but I couldn’t tell with all that rain. My clothes felt heavy on my body and muddy water soaked through my shoes and my legs felt like lead.

But it’s impossible to quit when you’re running for someone like Taylor. And it’s easy to find the energy to push through one more mile, and another, and another, when you know your sister wouldn’t stop running, if she could still walk. After the turnaround on the out-and-back course, I realized I couldn’t keep up with my pace group any longer. But somewhere on that waterlogged course along the river’s edge, I heard my own voice, imploring my body to keep pushing forward.

When I crossed the finish line, my heart felt full, and my legs felt light, and suddenly I couldn’t get enough of that race day feeling: that feeling that through my sister’s story and courage and love, we can achieve anything we imagine. And as I picked out Michelle in the crowd of spectators and felt the medal around my neck and walked off the soreness in my legs, I thought only about Taylor and the bright future she inspired but won’t live to see.

In the event at the university on Friday, I told the room of scientists and aspiring scientists that one day, they’d have to look deep inside themselves to fix a problem. They’d have to turn their backs on logic and numbers and facts in favor of faith and heart and imagination. And at the end of my 15K in rainy Minneapolis, I thought about how imagination – not logic – drives most of the good in this fight.

I’ve finished races in 17 states. At this rate, I’ll reach my goal in six years. I don’t know if I’ll keep up the pace, or if I even care. But I know this: my crazy, incredible personal journey to fight rare disease is just beginning.

Hot Chocolate 15K finish

 

 


Running Through the Valley of Fire to Fight Rare Disease

By Laura King Edwards

Nevada marked the 16th state in my quest to run all 50 for 30 million Americans fighting a rare disease. I dedicated my latest race to the memory of Henderson’s Hannah Ostrea, who lost her life to Gaucher disease type 2/3 before she celebrated her fourth birthday. Now Hannah’s family supports other Southern Nevada families who need the kind of medical equipment and services they needed during Hannah’s life. Through their Little Miss Hannah Foundation, they took a tragedy and turned it into something good.

Today fewer than 25 people ran the first leg of Rally in the Valley of Fire, a new, three-day stage race in Nevada’s Valley of Fire State Park. Our small group of runners boarded a single bus in a quiet parking lot this morning as cool raindrops fell from the gray desert sky not long after an invisible sunrise.

If you’re picturing a typical city road race, take that image and turn it upside down in your head. I ran this course in two hours and 42 minutes – a full hour longer than my personal record for the distance. In that time I took 100 photos, stopped to pee, drank paper cups of Heed and ate oatmeal cookies at the first of just two aid stations in the backcountry. I jumped over bighorn sheep poop and prickly bushes and rocks. I ran across the Fire Wave slickrock formation and through the bottom of a sandy wash.

Valley of Fire slot canyon

Running is pure. Running is something humans have done since our earliest ancestors roamed the African plains. Running is something you can do without any teammates or fancy equipment or advanced skills.

One thing I loved about the Rally in the Valley of Fire half marathon was its purity. No fancy expo or race day frills. No sponsor banners or music blasting through speakers. No chips or mile markers. No timing mats or even an official start line. Seconds before 9 a.m., Joyce, the race director and owner of Calico Racing, told us to stand in line with the nose of the bus and get ready for her signal to go.

Fire Wave slickrock

Small orange ribbons paper-clipped to cacti and scrubby plants and brilliant flowers bursting in the desert landscape marked our path. And at the end, runners feasted on a lunch spread with deli sandwiches and chips and granola bars and cookies and frozen chocolate milk, all prepared in a big rental truck parked at the finish line. We sat in plastic patio chairs and rested our muscles and shared stories and watched the sky turn from gray to blue over the sweeping valley.

I was in constant awe of the course’s indescribable beauty. I ran four paved miles, but much of the remaining nine miles and change took me away from manmade roads and established footpaths, instead following well-worn game trails.

Valley of Fire sandy wash

Experiencing places like Nevada’s Valley of Fire State Park always makes me grateful that I have the ability to see. Even after Batten disease stole my sister’s vision, she experienced places I visited through my stories. But now she can’t communicate any longer. While I still talk to Taylor, she can’t talk to me, and I’d give anything to know what she’s thinking.

I have a long way to go before I can say I’ve run a race in all 50 states, but the best part of this long journey is that we’ll be treating kids in a gene therapy clinical trial before I finish. Taylor’s story had a lot to do with making that possible. My sister might have lost her legs to Batten disease, but she never lost her courage.

That’s why I’ll never quit running or fighting for Taylor, Hannah and millions of people like them.


Rare Disease Week on Capitol Hill

By Laura King Edwards

I spent Rare Disease Week in Washington, getting to know other rare disease advocates while learning about legislative and regulatory issues and advocating for one in 10 Americans on Capitol Hill.

I had a great two days in our nation’s capital. But to really illustrate the meaning of those 48 hours, I have to start with the end of the story.

After landing at Reagan International Airport late Wednesday afternoon, Abeona Therapeutics Vice President of Patient Advocacy Michelle Berg waited for me at a bustling Starbucks.

Our meeting almost didn’t happen, but it was easily one of the most important on my trip to Washington. That’s because Abeona Therapeutics added an AAV-based CLN1 program to its clinical pipeline in September 2016. Those fancy acronyms simply mean Abeona took on the incredible work of my friend, Dr. Steve Gray, to make his novel gene therapy treatment available to patients with infantile Batten disease.

On Rare Disease Day four years ago, I introduced Steve Gray to a crowd of Taylor’s Tale supporters at a Charlotte hotel while my mom walked the halls on Capitol Hill. That morning, I told our friends Steve’s work would lead to a clinical trial for kids like Taylor in the not-too-distant future. In my heart I knew we were starting from square one, going to war against a monster disease on a shoestring budget.

group at Rare Disease Day event

But I hadn’t forgotten the 2011 night when Mom called me on the road driving home from a Batten disease workshop in Bethesda, Maryland. She couldn’t stop talking about meeting the junior investigator from the UNC lab just two hours from our home in Charlotte. I also hadn’t forgotten the 2012 day when Mom pulled together a group of funders for Steve’s work at a conference in London.

Even then, I knew deep down that we wouldn’t save my sister’s life. But I still wasn’t willing to accept an incurable disease without a fight. And I believed my own words at that Rare Disease Day breakfast, when I told a roomful of people we’d achieve our goal.

Abeona Therapeutics is committed to taking Steve’s revolutionary gene therapy treatment to patients who need it, but our work is far from over. At Taylor’s Tale, we understand that patient advocacy is more important than ever. And that’s where my time on the Hill – along with about 400 other advocates from all over the nation – was so crucial.

Capitol Hill

A couple of years ago, our friends at the Beyond Batten Disease Foundation produced a great video about the so-called Valley of Death that prevents many scientific discoveries from translating to meaningful treatments and cures for real people. Consider:

  • Each year, approximately $1 billion is invested into medical research in the United States.
  • That investment only produces about 20 to 25 FDA-approved medicines and therapies.

The truth is that most labs don’t have the resources to shepherd their work through the drug development pipeline – and regulatory roadblocks make the journey even more difficult. Just imagine: scientists like Steve Gray and others across the country develop potentially lifesaving treatments in their labs. They take meaningful treatments and cures to mice, sheep and pigs. They publish papers and earn recognition for themselves and their institutions. But often, their work doesn’t save a single human being. And people like Taylor continue to suffer and die.

That’s why, after an all-day legislative training session in Washington last week, I celebrated my birthday by advocating for the 30 million Americans with a rare disease in the halls of Congress. I attended meetings with Representative Joe Wilson, Senator Tim Scott and the office of Senator Lindsey Graham. I talked about the benefits of the OPEN ACT, bipartisan legislation that could double the number of rare disease treatments and should have been included in 2016’s landmark 21st Century Cures Act. And as I walked the halls and told our story, I couldn’t help but think that, in a time when our country is divided on so many levels, rare disease is one issue on which we should all be able to agree.

Laura King Edwards and Senator Tim Scott

Taylor’s Tale is a story about love and hope. It’s a story about turning hope into reality. Sometimes I get dizzy thinking about all that has happened since my family and I shared our story publicly for the first time on a cold night 10 years ago. And it’s been hard watching my sister, who used to sing and dance, grow too sick to speak or walk.

But I can see the future, and it’s shining brightly.

If you have questions about Rare Disease Week, legislation relevant to rare disease patients or our work on their behalf, feel free to contact me.

Thanks to our friends at the EveryLife Foundation for Rare Diseases, which organizes Rare Disease Week on Capitol Hill and granted Taylor’s Tale a travel stipend that made it easier for me to attend and speak on behalf of millions of Americans in Washington. 


Running Toward Everything

By Laura King Edwards

I’m traveling for races so much these days, it isn’t often that I have a chance to run in my North Carolina hometown. So I looked forward to running in today’s Charlotte 10 Miler, where I figured to see familiar faces and log a fast time on a familiar course.

But life happened, as it tends to do. I lost my father-in-law on Election Day and moved into a new house on New Year’s Eve. I dove into Taylor’s Tale with a sort of conviction I struggled to muster in the past several years. I stayed busy at the office. Needless to say, my feet haven’t seen much action on these fleeting winter days.

But I had a lot of things to fuel me along the 10-mile course on sleepy neighborhood streets and wooden walkways and tree-lined trails winding through urban wetlands. The Batten disease community lost six children in the past few weeks. My own sister’s stubborn star is fading. And as the morning sun lit up the sky in shades of coral and salmon and goldenrod, I inked not one, but two names, on my arm.

Charlotte sunrise

The first was Taylor’s. I’ve been running races for a purpose since I took my first steps at Chapel Hill’s Tar Heel 10 Miler on a spring day in 2009, four months after my blind sister crossed the finish line of her first 5K with her face turned toward heaven.

Charlotte 10 Miler for Taylor

The second was Bridget’s. Twelve-year-old Bridget Kennicott gained her angel wings on February 15 after a brave battle against late infantile Batten disease. I’ll never forget the first time I met Bridget and her family at a Batten Disease Support and Research Association conference in Chicago. Bridget’s dad, Dave, sat behind me at a research session in one of the hotel’s chilly conference rooms. Bridget looked like a sleeping angel in the stroller beside him. When I twisted in my chair to say hello, she took hold of my finger and didn’t let go.

Something my sister used to do.

 

Charlotte 10 Miler for Bridget

A lot happened in the months leading up to the Charlotte 10 Miler. But in this, my first race of 2017, I didn’t think much about the past. Instead, as I weaved through colorful flashes of wicking shirts and race bibs and compression socks on the course this morning, I mostly thought about what I was running toward. 

7:51/mile splits. The finish line. The 35-39 age group (my birthday is in 10 days). My next race, in state 16 of 50. Exciting next steps as an author. A trip to D.C. for rare disease meetings on Capitol Hill. A gene therapy clinical trial for children with Batten disease. My sister’s tempered laugh. An evanescent smile. A radiant soul. One brilliant future realized; another extinguished.

Running toward everything.


Taylor’s Tale Gets a New Look

By Laura King Edwards

Last week, I was thrilled to share the result of a project I’d been working on – this website, and new branding for Taylor’s Tale. Especially at Thanksgiving, it felt like the perfect way to cap a momentous year for our charity.

I find it appropriate that so many milestones have happened in 2016, the 10-year anniversary of my sister’s diagnosis and the founding of Taylor’s Tale. One million patients in North Carolina and their families will benefit from Taylor’s Law. Thanks in large part to Abeona Therapeutics, my friend Steve Gray and his team at UNC, a potentially lifesaving gene therapy treatment for kids like Taylor is headed to clinical trial.

We won’t save my sister’s life, but dreams are still coming true. And if anything, this year has reminded me of the importance of hard work, patience and faith.

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Running for Taylor in 50 States: Utah

By Laura King Edwards

I waited a long time to run for my sister, Taylor, in Utah: two years, or the amount of time since my most recent trip to one of the most beautiful places on our planet.

The last time I visited Utah with my husband, John, for eight days of hiking in Arches, Canyonlands and Capitol Reef National Parks, I was two states into a 50-state running journey. I’d never heard of posterior tibialis tendonitis or suffered a stress fracture. My sister was still walking.

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Global Genes Summit Unites Rare Disease Voices

By Judy Mayer

You might assume that a summit dedicated to rare disease would be a negative experience, perhaps even bordering on tragic. You would be wrong.

The Global Genes RARE Patient Advocacy Summit held in Huntington Beach, California, on September 24-25 illustrates the positive energy that defines the rare disease community. Some people showed up in wheelchairs, while others had masks across their mouths and noses. One teenage girl brought her service dog, and one woman brought her oxygen tank.

While rare diseases create a seemingly endless variety of challenges, the summit participants all share the determination to help others and to leave no stone unturned to improve the lives of rare disease patients.  continue reading →


Running for Taylor in 50 States: New Hampshire

By Laura King Edwards

New Hampshire was special.

Heather and Chris Dainiak established the Our Promise to Nicholas Foundation in 2009, not long after Nicholas, the older of their two sons, was diagnosed with late infantile Batten disease. Heather and Chris promised Nicholas they would work tirelessly to find a cure for the monster stealing his sight and motor coordination and wracking his body with seizures.  continue reading →