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

 

 


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. 


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 →