We are the “They”

By Laura Edwards

Boston GlobeToday’s edition of the Boston Globe features a story about patients’ and patient advocates’ growing impact on drug development as pharmaceutical companies and the FDA respond to demands.

Every paragraph spoke to me. Every reference contained some connection to our own battle with Batten disease. Every word said, this is your story.

A Texas energy executive and a New York financial services executive, both fathers of sons with hemophilia, launched a biotechnology firm focused on a cure for the bleeding disorder because they grew frustrated with the lack of options for their children.

In 2008, 100 yards from my parents’ house, near the end of an hour-long walk fueled by passion for a treatment we could reach out and touch in our dreams but couldn’t fathom in real life, my mom and I made the decision to turn our steering committee with a couple of successful fundraisers, a website, a blog and a small group of dedicated volunteers into the non-profit organization known today as Taylor’s Tale, because we wanted more for children like my little sister.

The Michael J. Fox Foundation for Parkinson’s Research – mentioned a few paragraphs later in the Globe article – served as inspiration at a recent meeting of the board of directors of Taylor’s Tale – still fighting for kids like Taylor in 2012.

In the mid-1990s, Pat Furlong lost her two sons to Duchenne muscular dystrophy. Not long after their diagnosis, she borrowed $100,000 to finance research, posed as a doctor to get face time with Duchenne muscular dystrophy experts and pleaded her case with drug company execs.

Pat Furlong and my mom, Sharon, have a lot in common. They share the same vision. They have the same fearlessness. The same bulldog mentality. In the past several years, my mom has turned to Furlong more than once for advice.

One of the drug companies mentioned in the article, Genzyme, developed a drug ignited by a father who wanted desperately to save his children from Pompe disease – and would stop at nothing to succeed. The father is John Crowley; his story is chronicled by former Globe writer Geeta Anand in the book “The Cure” and, later, the movie “Extraordinary Measures.” At the first meeting of the steering committee that eventually became Taylor’s Tale, my mom gave a copy of “The Cure” to each of the women seated around the room. She gave us two assignments that day: to read the book, and to fight with her, no matter how tough the road might seem; because she believed, she hoped we could believe, too.

I posted a link to another interesting article – this from the Chicago Tribune – on our Facebook page last month. This story focused on parents of children with giant axonal neuropathy (GAN) who hired researchers to develop a treatment. Like Batten disease, GAN is a neurodegenerative disease – though it is far more rare (only 25-30 known cases worldwide, compared with at least 500 known cases of Batten disease in the United States alone). And yet these parents succeeded in raising enough money to put researchers on track for human clinical trial in the near future.

The Tribune article contained a quote from one of the GAN parents that has stayed with me since the moment I read it. In the six years since Taylor’s diagnosis, I’ve never heard anyone describe the existence of the close family member of someone with a rare disease so well:

“After Ethan was diagnosed, people would say to us, ‘Don’t worry, they’ll find a cure,'” Tkalec said. “And I’d say, ‘You don’t understand … there is no ‘they.’ We are the ‘they.'”

She’s right – we are the “they.” For as grateful as I am for the support we’ve received over the years – from building our non-profit organization to supporting it to offering friendship and, on rough days, a shoulder to cry on – I know that ultimately, this fight is ours to fight; that if we don’t fight, no one will. That the minute we stop fighting – the minute we stop believing – that’s when the mountain will become insurmountable.

Search for the Light

By Laura Edwards

Autumn has arrived in Charlotte. The tops of the trees outside my office window are a fiery red, and the nights are cool.

Five autumns ago, my mom went on Amazon.com and ordered hardcover copies of Pulitzer winner Geeta Anand’s The Cure. They arrived in a box one late afternoon as the first crimson and gold leaves settled on my dad’s emerald green lawn; she must have ordered 20 copies.

The Cure, which last year became a movie called Extraordinary Measures, tells the story of John Crowley’s fight against Pompe disease, a severe neuromuscular disorder that affects his children, Megan and Patrick. At the time of the diagnosis, Pompe had no cure – and no treatment. But Crowley and his wife, Aileen, refused to accept the death sentence Pompe prescribed for Megan and Patrick.

John Crowley relentlessly fought for his children’s right to live. He quit his job, invested everything he had in a biotech start-up and went on a worldwide hunt for the scientist who could save Megan and Patrick’s lives. Along the way, some questioned his ethics. Always, doubters marveled that he could risk everything for two children destined to die young.

For much of the journey, no one believed in Crowley but Crowley. But after a long, hard-fought effort that encountered many setbacks, his children received enzyme replacement therapy – and bucked every dire prediction.

Several days after that box of books arrived on my mom’s doorstep five autumns ago, a small group of women, myself included, huddled around her in a Myers Park living room. Between us sat the box. I listened and watched as my mom declared war on Batten disease and urged the rest of us to join her on the battlefield. My mom’s voice cracked as she described our opponent, but her resolve never wavered.

Taylor and Mom

After my mom finished speaking, I took a copy of The Cure for myself and gave one to each of the other women. And that very moment, Taylor’s Tale was born.

This week, two of the women in the room that historic day – my mom and Taylor’s Tale’s new advocacy chair, Callie Alley, flew to Washington, DC for the first annual US Conference on Rare Diseases and Orphan Products. The highlights of their visit included the opportunity to hear John Crowley speak in person. The story, though no longer new or foreign to those of us who have been fighting all this time, still inspires us. And my mom still inspires me.

My mom is battle-worn. But she is not battle-weary. A little more than two months into her new role as president of Taylor’s Tale, and five years and three months into a parent’s worst nightmare, she is still the same fearless leader our team – and the entire rare disease community – needs.

Thank you, John Crowley, for setting the bar for families who aren’t willing to settle for “no cure.”

Thank you, Mom, for showing us the way as we march onward in our search for the light.

Holding onto Hope

By Laura Edwards

Check out this article on Noah and Laine VanHoutan, a brother and sister pair from the suburban Chicago area who are fighting late infantile Batten disease.

You can cast your vote for the VanHoutans’ video on the Extraordinary Measures movie website’s Inspirational Quilt. Click here to visit the Quilt, then type ‘noah’ in the search box. You can vote everyday! The winning video will win $10,000 to support crucial research.

Extraordinary Measures

By Laura Edwards

Shortly after Taylor was diagnosed with Batten disease in the summer of ’06, my mom bought a box full of copies of The Cure, the bestselling book about John Crowley and his fight to save his children from a fatal disease. She gave copies of the book to friends and asked them to fight with her. And from that simple act, Taylor’s Tale was born.

Now, the Crowleys’ amazing story will be told on the big screen. Extraordinary Measures, starring Harrison Ford, Brendan Fraser and Keri Russell, opens on Friday, January 22. If you’ve supported Taylor’s Tale and/or followed our story over the past three-and-a-half years, please consider going to see the movie with friends and using it to help share the story of our own journey and fight for a cure for Batten disease.

You can also help support Batten disease research by visiting the movie’s website and casting a vote in support of a video posted by another family who has two children fighting the disease. Click here to visit the Inspirational Quilt and type ‘noah’ in the search box to watch the video. You can vote every day! Thanks in advance for supporting this special family and the quest they share with Taylor’s Tale and our family to find a cure for Batten disease.