Why I’m Still Fighting Rare Disease

By Laura Edwards

Taylor sleepingBy Sharon King

I checked on Taylor as she was sleeping this morning. She had the most beautiful and peaceful smile. It was one of those precious moments you remember forever. I wondered what she was dreaming. I often wonder what she feels, thinks, dreams and fears. Batten disease really has a hold on her now, but we still try to give her the most normal life possible. Whatever she feels, thinks and dreams, we pray for happiness and peace for things she may fear. That’s really no different from what any parent wishes for his or her child.

Parents commit to helping their children follow their dreams and giving them the tools to battle their fears. But when your child has a life-threatening, rare illness, parenting takes on a new dimension. Serving as a guide for dreams come true and battling monsters becomes bigger than our children. For many of us, it becomes more about all of the children past, present and future whose dreams and fears include rare disease. I’m there.

It’s been nine long years since Taylor’s diagnosis. I imagine many people wonder why I continue to fight, why I still believe.

  • Rare is not an excuse. It’s too darn easy to write off rare disease as “unfortunate.” It’s definitely unfortunate, but it happens more often than you might expect. There are approximately 7,000 rare diseases and disorders, and more are being discovered each day. Thirty million people in the United States are living with rare diseases; globally, it’s estimated that 350 million people suffer from rare diseases. About half of these people are children; 30 percent of them will not live to see their fifth birthday.
  • The costs are enormous, both in terms of human suffering and economic impact. According to our partner, the EveryLife Foundation for Rare Diseases, 95 percent of rare diseases don’t have a single FDA-approved drug treatment. During the first 25 years of the Orphan Drug Act (passed in 1983), only 326 new drugs were approved by the FDA and brought to market for all rare disease patients combined. Taylor takes multiple drugs, and we continue to add expensive medical equipment. Since January 2014, she’s visited the ER three times (once via medic) and had two separate hospital stays (one for six nights). All of this, and just to treat her symptoms—not the root cause of her disease. Just imagine the costs for Taylor alone in 2014. Then, multiply that by 30 million. Wait…go ahead and multiply the number in your head by the worldwide number of 350 million people. You can’t imagine it. It’s mind-boggling. What we have is a serious public health problem.

Did I give rare disease more than a passing thought before Taylor’s diagnosis? No, of course not, and if I did, it likely sounded something like, “Glad it’s not my family or me.” I know better now.

The problem of rare disease belongs to all of us. Each of us can do something to help. Significant progress can happen with greater awareness, advocacy and funding. And in the coming weeks leading up to Rare Disease Day 2015 at the end of February, I’m inviting other rare disease advocates to share their thoughts on how we can all get involved and make a difference.

We know the facts. The question is, will we talk, or will we ACT? Hope requires action, and there are 350 million people who need your help.

Yesterday, the Charlotte Observer printed this quote, always one of my favorites:

“I dwell in possibility.” ~Emily Dickinson

Please join Taylor’s Tale in creating new possibilities for people like Taylor. Together, we can change lives.

Wishing you joy, peace and beautiful dreams this holiday season and into the New Year.

Do you have an idea for how the average Joe or Jane can make a difference in the fight against rare disease? How can citizens help millions suffering from rare disease by applying their skills in areas like awareness, advocacy and fundraising? Leave a comment below or send us a note to join the conversation.

Rare is Everywhere

By Judy Mayer

By Sharon King

October 15, 2014

Batten disease: a fatal, inherited disorder of the nervous system that typically begins in childhood. Over time, affected children suffer mental impairment, worsening seizures and progressive loss of sight and motor skills. Eventually, children with Batten disease become blind, bedridden and demented. Batten disease has no treatment or cure and is universally fatal.

Taylor's graduationImagine a doctor delivering the news that your child has Batten disease. Almost unimaginable, even for me, and I’ve lived it. In a very few minutes, your life is forever changed. Few of us think about rare disease. After all, rare means “not too many,” and there is comfort in believing rare disease “will never happen to me.”

The statistics don’t support that belief. Rare diseases are defined as those affecting fewer than 200,000 people in the United States. Since there are more than 7,000 rare diseases affecting more than 25 million Americans and their families, they are a significant healthcare concern. Rare disease is everywhere, and the problems of rare disease belong to all of us.

During a Rare Disease Congressional Caucus briefing in Washington, DC last February, Dr. Marshall Summar, Chief of the Division of Genetics and Metabolism and the Margaret O’Malley Chair of Molecular Genetics at Children’s National Hospital, shared that 25% of children admitted to the hospital have a genetic condition (e.g. rare disease), representing 45% of all hospital bills. Rare diseases represent a disproportionate share of healthcare spending; again, that affects all of us.

Taylor’s Tale has learned a lot as a Batten warrior. We’ve supported groundbreaking research, raised awareness and supported legislation that has the potential to move the needle toward greater innovation and a quicker path from scientific discovery to real treatments for patients. We understand the power of unifying our voice with those of other rare disease groups. While each rare disease has its own complexities, many also share similarities, and we can learn from one another.

We have a big vision including the development of a North Carolina Rare Disease Coalition in the coming year. But Taylor’s story and the effort to find a treatment for children like her will always be front and center. Taylor’s Tale enthusiastically embraces the opportunity to serve as a connection builder and an advocate for all rare diseases, but we have a message for Batten disease:

Watch out Batten. We’re still on the warpath, and we’re out to get you!

In hope,

Sharon King

Co-Founder, Taylor’s Tale

Taylor’s Mom

Rare is Everywhere

By Laura Edwards

Watch this beautiful video, filmed at the candlelight vigil hosted by Taylor’s Tale in Charlotte’s Freedom Park on World Rare Disease Day 2014, and be transported to a special place where candles glow, heroes live and rare is beautiful.

Thanks to Beth Fulton for sharing her time and talents with us in the making of this video.

The World’s Third-Most Populous Nation

By Laura Edwards

Thirty million Americans have a rare disease. Globally, if all of the people affected by a rare disease lived in one country, they would make up the world’s third-most populous nation. And according to the National Institutes of Health, half of all people with a rare disease are children.

These are serious numbers. Rare diseases are real. They don’t just strike anonymous people you read about in magazines or see on TV. They strike your own family members and friends. Ten percent of Americans have a rare disease. If you have 30 classmates, three of them have a rare disease. If you work at a company with 1,000 employees, 100 of them suffer from a rare disease.

I have one sister – out of all the people in the world, my closest genetic match. I don’t have a rare disease. But Taylor does. She has a fatal disease without a known cure or even a single FDA-approved drug treatment.

It’s tough to describe the devastation of Batten disease in a paragraph. It causes blindness and seizures. Kids like Taylor lose their speech and their ability to walk. They end up with feeding tubes. We call Batten disease a “brain” disease, but it ravages the whole body. Calling it a brain disease is like letting it off easy.

But for now, all we can do is throw pebbles at the monster wreaking havoc on my sister’s body. She takes a drug to help prevent seizures, plus a million pills off-label. She does physical therapy like a champ. And Batten disease marches on.

Taylor pool therapy

Taylor’s closest to my heart, but her story’s far from unique. When it comes to rare diseases, ineffective and/or temporary solutions for the symptoms are the norm, not the exception. This is an expensive approach that offers little quality of life or long-term hope for the millions of people like my sister. It is a public health problem, and we can all be part of the answer.

Initiatives like the Breakthrough Therapy Designation and Accelerated Approval for Rare Diseases can help pave the way to a better future for the rare disease community. At a recent briefing about FDA approval pathways, a cystic fibrosis patient talked about how a drug called Kalydeco, one of the first Breakthrough Therapies to market, has changed his life. The patient said that the drug, which treats the underlying effect of the disease and not just the symptoms, “profoundly changed his life because for the first time, he felt that he could look forward to becoming a grandparent one day, whereas the average lifespan for CF sufferers is 37.” (FasterCures, Aug. 6, 2013) 

I’m reading “The Forever Fix,” Ricki Lewis’ book about gene therapy and the world of patients exploring the frontiers of medicine – our world. In the book, Corey Haas, born with a rare eye disease called Leber congenital amaurosis (LCA), receives gene therapy and sees bright sunlight and fireflies for the first time.

Back when Taylor could still share her hopes and dreams with me, she told me she wanted to drive a pink convertible like Sharpay from “High School Musical” and have a dog and go to college and get married.

I don’t know what tomorrow holds for my sister. But I know that I want to give people like her the opportunity to look forward to milestones. I want to give them the miracles of life, both great and small. I want them to be able to watch the sunrise and count the fireflies on a warm summer night.

Taylor’s Tale is a leader in the fight against rare diseases. Send us a note to ask how you can get involved.

Pink…for One Heck of a Price Tag

By Laura Edwards

Each October, the NFL celebrates Breast Cancer Awareness Month by going pink. Pink ribbons adorn the footballs and fields. Players wear pink chin straps, arm bands, towels, helmet stickers, gloves and cleats. Coaches wear pink hats. Referees blow pink whistles. Captains wear pink patches. Kickers boot field goals through goalposts mounted on pink bases.

Breast cancer is a terrible disease. Stage IV breast cancer’s five-year survival rate is just 15 percent. I hate any disease that steals people’s lives before they’re done with this thing we call living. Disclaimer: I’ve never lost anyone I love to breast cancer – though I’ve lost people I love to brain disease, heart disease and other equally horrendous things. But still, I hate breast cancer. One of my best friends lost her mother and older sister to breast cancer. I don’t have my own battle scars from breast cancer, but I’ve met it before. I know its name.

And yet, every year when October rolls around, I reevaluate this whole NFL pink initiative, and every year, I come to the same conclusion: I find it to be an incredible waste of money. Peter O’Reilly, the league’s vice president of fan strategy and marketing, says the NFL spent about $5 million on advertising and gear for the initiative JUST THIS YEAR.

Do you know what the rare disease community could do with $5 million?

If I could write a $5 million check to the world’s best Batten disease experts, I believe in my heart that they’d give us a treatment that works.

It probably wouldn’t be in time for my sister. But we might have a chance to save the children who aren’t as affected…children whose families sit where we sat six years ago. Weighed down by tragedy. Lifted up by hope for the future. For the possibility that Taylor could be different…that she could survive. We could rewrite the futures of the children who have yet to be born. We could change the face of Batten disease – an indiscriminate killer. Its survival rate is zero percent.

I repeat: breast cancer is a terrible disease, and while not nearly as common as some diseases, such as heart disease, it affects far more people than Batten disease. I’m not proposing that we stop supporting breast cancer research in favor of Batten disease research. Not one bit.

But if the NFL has $5 million to support a disease, why spend it on cleats? No matter what disease you’re fighting, awareness is incredibly important; just ask my family and friends or the Taylor’s Tale board of directors how much I push our awareness efforts. But at the end of the day, you don’t save lives with taglines and pink chin straps. You save them with smart research and strong advocacy efforts and strategic awareness tactics that rely on the strength and the magic of a great story.

That’s where I think the NFL misses the point. The league could still have an incredible impact by spray painting pink ribbons on fields, putting pink ribbon patches on jerseys, giving coaches and staff pink ribbons to pin on their shirts, and asking the broadcast team members to don pink threads – all for very little green. They could even air short interviews with NFL players and staff who are directly affected by breast cancer. Carolina Panthers running back DeAngelo Williams is a vocal supporter; his mother is a survivor, and he lost four aunts to the disease. A heartfelt message from a football star about the importance of getting a mammogram would mean something to fans.

The rest is just expensive noise. How many of the millions watching NFL football today have forgotten – or never seen – the true faces of breast cancer? The women – and yes – men – who fight courageous battles against the disease each and every day? That’s the stuff of legend – the stuff that will resonate with people – long after the players, coaches and refs resume wearing color-coordinated gear and the pink ribbons disappear. How many people never meet the stars of the story or learn a single thing about breast cancer risk factors but can proudly tell you that breast cancer’s signature color is ‘pink?’

The Price of Life

By Laura Edwards

On July 24, 2006, we learned that my little sister, Taylor, has infantile Batten disease.

Since that tearful day, the hardest thing to face has been the disease itself – its methodical way of robbing my sister of everything that once shaped a life that seemed incredibly promising and bright, and the knowledge that all children born with Batten disease die from Batten disease.

Over the past six years, the second hardest thing to face has been the gauntlet that is the world of rare disease research – and struggling to maintain the resolve required to fight for the lives of children like Taylor (a fight that grows more difficult with each day as Taylor’s own light begins to fade).

Since 2007, Taylor’s Tale, the 501(c)3 non-profit organization my family and close friends founded to help give children like Taylor and families like our own a chance to believe, has raised close to $350,000 for the fight against infantile Batten disease. Those funds – the vast majority of which were donated by individuals during an economic downturn – contributed to the development of an enzyme called PPT1 in a lab in Texas (children who lack or are severely deficient in PPT1 have infantile Batten disease); helped support a mouse colony in London; backed important research at other institutions and, in general, helped spark new interest in infantile Batten disease research among the scientific community. We’ve witnessed incredible progress.

But we still don’t have a treatment. Taylor swallows 24 pills a day and goes to multiple therapy appointments. The pills and the therapies address her symptoms – to some extent – but they don’t touch the disease, which continues to take bits and pieces of her away from us.

About a year ago, we talked with an exciting, young gene therapy expert who has taken a disease similar to Batten disease to the brink of clinical trial. He laid out a plan for our disease; he told us how much it would cost and how long it would take him to do the work.

He could do the initial work for $150,000. From start to finish, the project would cost $3-5 million over approximately three years. He told us he’d be ready to deliver treatment to real kids (not mice, dogs or monkeys) by the first quarter of 2016 – just over three years from now.

I get excited about this expert’s work, but then I hear well-meaning would-be donors’ unspoken words in my head.

“Several million dollars just to get to clinical trial? That’s a lot of money. And for so few children. It’s a really good cause, but if it wasn’t so rare…”

The June issue of Reader’s Digest published a list* of studies and programs funded by federal tax dollars – and the requisite price tags. Here are my favorites:

  • International Center for the History of Electronic Games for video game preservation – $113,227
  • Columbia University online dating study – $606,000
  • Wellesley College study that asked the question, “Do you trust your Twitter feed?” – $492,005
  • Virginia Commonwealth University study on hookah smoking by Jordanian students – $55,382
  • University of California Riverside study on whether happy or unhappy people spend more time on social media sites – $198,195
  • Primate researchers studying (in part) what feces-throwing among chimps reveals about communication skills – $592,527
  • National Science Foundation study on Women, Weaving, and Wool in Iceland, in the years AD 874 to 1800 – $338,998

In all, these seven studies cost $2,396,334 – about half the proposed cost to develop a life-saving treatment for children with a fatal disease that has no cure.

This Thursday marks the beginning of the 25th annual Batten Disease Support & Research Association (BDSRA) conference – a gathering of affected families and the world’s leading experts. There are many things about the conference that are difficult for me – it is hard to be around so many affected children, and the event has never been for me what it is for many families – an opportunity to spend time with others who understand our battle. For my mom and me, the conference has always singularly been about connecting with researchers and others who could help us get closer to achieving our dream of finding answers for children like Taylor. I’ve never been to any of the programs for siblings; I use “free” time to pick the brains of PhDs and MD PhDs in empty conference rooms or the bar. And every summer, I’ve marveled at the progress that the experts dedicated to Batten disease have been able to make with the support of relatively few resources.

But this will be our sixth conference, and we still don’t have a treatment for children like Taylor. I remind myself to be logical – that science moves at its own pace; that six years is not a long time in the world of rare disease research.

And then I hear that we could save some of the children I’ll see this weekend – maybe not my own sister (nearly 14), but others, plus many others in the future, for a couple of million dollars. And I wonder why, if we can spend $338,998 studying the weaving habits of Icelandic women who lived more than 1,100 years ago, we wouldn’t jump at the chance to spend less than half that to kick-start a study that could save the lives of children living NOW – and children yet to be born? And if we can spend nearly $2.4 million in federal funds on seven studies that don’t save lives, wouldn’t we be willing to spend just a little bit more to save the life of even one child – let alone hundreds or thousands?

*Wastebook 2011, produced by Sen. Tom Coburn

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.

ACTION ALERT: Help Children with Rare Diseases Gain Access to Lifesaving Treatments!

By Laura Edwards

I need your help with something.

If not for me, do it for Taylor.

If not for Taylor, do it for the thousands of other children who suffer from rare diseases and don’t have access to new drugs that could save their lives – not because scientists are incapable of developing those drugs, but because the current wording of a federal law makes it difficult for them to navigate the regulatory process and bring their discoveries to clinic, where they can actually help real, live people.

The Unlocking Lifesaving Treatments for Rare diseases Act of 2012, or ULTRA, H.R. 3737, would:

  • improve access to the FDA’s accelerated approval process for extremely rare diseases
  • provide a more predictable regulatory process
  • decrease associated costs and spur investment in the development of treatments
  • require the FDA to use the best science available, ensuring that treatments are safe and effective and reach patients sooner.

Watch this short video message from Tracy VanHoutan, founder of Noah’s Hope – an important partner of Taylor’s Tale in the fight against Batten disease and other rare diseases – to learn more about why you should support the ULTRA Act of 2012.

In less than five minutes, YOU can help thousands of children like Taylor. Please follow the link below to contact your legislators, asking them to support a NO-COST bill that would accelerate the rate at which we are able to get lifesaving treatments to children with ultra-rare diseases. Ask your friends and family to do the same, because we need 5,000 people to sign on in support of the ULTRA Act of 2012 prior to Rare Disease Day (Feb. 29, 2012)!

Support the ULTRA Act of 2012

Note: When you click on the link, you will be redirected to the website of our partner, the Rare Disease Legislative Advocates (RDLA).

  1. Enter your contact information.
  2. Click the button to review and submit a message to your legislator.

*Your contact information will NOT be sold or used for any other purpose.

Visit the RDLA Site Now to Show Your Support

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.