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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Waterlogged in Minnesota

Running Through the Valley of Fire to Fight Rare Disease


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.


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.


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.

continue reading →


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 →