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.

continue reading →


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 →


The Teacher

By Laura King Edwards

My sister will turn 18 this Friday.

Mom and I traded party ideas once or twice, but the truth is that neither of us wanted to talk about the fact that Taylor can’t eat her own cake, or that most of her friends will be moving into their dorms this weekend and starting their college careers next week. They won’t be around for the 18th birthday party of a dying girl.  continue reading →


What’s Next

By Laura King Edwards

It was a bright hot day in July, and it began full of promise. I was a newlywed and a new homeowner and had a great job. I was the happiest I’d ever been.

The phone rang three times before I answered it. Sometimes I wonder how different my life could have been, had I not taken that call or gone to be with my family in its wake or even moved home to Charlotte after my college graduation.

But I did. On July 24, 2006, I went home to the house where I helped raise my baby sister for the first few years of her life, and I held my parents and I cried and I tried to make sense of watching Taylor die.

My sister didn’t even look sick. continue reading →


Jasper’s Legacy

By Laura King Edwards

Early this morning, I learned of the death of Jasper Duinstra in the Netherlands. When I saw the news on Facebook, my eyes misted and my legs went numb and my heart caught in my throat. But I’m supposed to be strong, so I wiped my eyes and shook out my legs and swallowed the knot, and I stood up at my desk and walked to a meeting.

Jasper’s family is Dutch but briefly lived in the U.S., where they formed fast friendships with other families fighting Batten disease. Jasper’s parents, Bou and Pip, believed in approaching the challenges of Batten disease in the same spirit as their young son’s approach to life – a spirit of enthusiasm and commitment. They established a fund, Jasper Against Batten, to support potentially lifesaving research. continue reading →