Join Taylor’s Tale as a Force for Good on World Rare Disease Day

By Judy Mayer

Today is World Rare Disease Day. Unlike a typical holiday, the namesake of this occasion is anything but good or happy.

Yet as a Taylor’s Tale volunteer, I have learned that this day is a celebration of goodness and hope. It is a celebration of the millions of dedicated people who comprise the rare disease community….the healthcare providers, researchers, caregivers, families, and most importantly, the rare disease patients who bravely face each day with a steadfast commitment to see a better tomorrow.

United with our supporters and advocates, we are most definitely individual and collective forces for good.

What is World Rare Disease Day?

Founded by Eurordis in 2008 and brought to the United States by the National Organization for Rare Disorders the following year, Rare Disease Day unites patient organizations from around the world that work hard year-round to raise public awareness of and funding for rare diseases. It is a day of special events for very special people.

This day also provides a targeted opportunity to educate elected officials and other public policy makers, industry leaders, researchers and healthcare professionals about the dire impact that rare diseases have on the lives of patients and their families.

Rare Disease is a global public health imperative.

The numbers are overwhelming: worldwide, an estimated 350 million people live with a rare disease. In the United States, one in 10 people suffer from one of at least 7,000 rare diseases, some with devastating consequences.

The reality is clear: rare diseases are not so rare after all. Nor do rare diseases recognize geopolitical borders. Rare diseases represent an equal-opportunity destructive force that is shared by humanity.

Even small organizations like Taylor’s Tale are key to this global call-to-action. We participated in a consortium with other patient organizations in the United States and Ireland to raise funds in support of gene therapy research at the University of North Carolina. And, an international collaboration of scientists conducted the research.

Rare disease progress comes day by day.

While we may only recognize World Rare Disease Day once a year, progress continues on behalf of rare disease patients due to the hard work conducted every day by their advocates and caregivers.

Just a few weeks ago, Abeona Therapeutics announced that the Food and Drug Administration granted crucial Orphan Drug Designation to the gene therapy treatment for infantile Batten disease that Taylor’s Tale helped fund at the University of North Carolina. The Orphan Drug Designation helps accelerate the timeline for conducting human clinical trials while maintaining the standards that protect patients.

Taylor’s Tale founders Sharon King and Laura King Edwards were cited by the Batten Disease Support and Research Association (BDSRA) for their contributions in advancing this vital research.

Rare disease patients need our attention every day.

Like most special-designation days, World Rare Disease Day is intended to highlight our particular cause. The day serves to galvanize our community and, hopefully, to attract much-needed attention to the public health imperative of rare disease.

On this day, we will acknowledge our steps toward progress in providing viable treatments for rare diseases. We will re-commit to advocating for public policies that improve the quality of life for patients and their loved ones. And we will agree to keep fighting, because we must.

You can help this work by remembering that rare disease is not one day a year…it’s every day, every year for those whose lives are forever changed by a devastating diagnosis like Batten disease.

You can help us spread the word that attention must be paid, and that every life touched by a rare disease…regardless of where in the world…matters. You can join us to be a force for good for all rare disease patients.

Photo courtesy of Viriya Riyakum/

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 →

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.

When the Eruption is Over

By Laura Edwards

It is not easy to paint a picture of Batten disease for people who have never seen it before. If you wish to paint with a large brush, you can tell them that children born with Batten disease never survive it; that it is total destruction; like a molten wave of lava and volcanic rock and ash.

Batten disease is not easy for most people to understand, but everyone can see that Taylor is blind. The destruction reached her eyes first. They are still beautiful and rare, the color of the caramel inside a Milky Way bar and framed by impossibly long lashes. But they lost their sparkle long ago.

Mom and Taylor at Crater LakeFive years ago this past January, a clinical trial coordinator brought my sister’s honey blonde hair to us in a Ziploc bag as we waited in a chilly waiting room in Oregon, thousands of miles from our home on the East Coast. Down the hall, a surgeon drilled eight holes into my sister’s skull and gave her hope. Not life, but hope.

For the next several years, my parents and Taylor made frequent return trips to Oregon. Once, they rented a car and drove south to Crater Lake, one of our country’s pristine natural wonders.

More than half a century ago, Freeman Tilden, said to be the grandfather of park interpretation, wrote a text, “Interpreting our Heritage,” that is still used to educate rangers today. One of the essays holds special meaning for us.

The essay, “That Elderly Schoolma’am Nature,” tells the story of a park naturalist meeting a man just inside the rim of Crater Lake. The naturalist can sense that something is different about the visitor from the moment he sees him but only comes to the determination that he is blind after noticing the man’s very dark glasses and putting all of the clues together.

And then, the visitor asks the naturalist to describe the lake to him. But how do you describe one of the world’s most stunning lakes to a man who cannot see?

The naturalist asks the man to take off his gloves, so that he can take his hands and move them around the crater model and describe its shape and depth and skyline and the curious, cone-shaped island in the middle. But how do you describe the blue of its water – a blue that has no equal – to someone who has not seen blue in many long years?

The visitor remembers the blue of the sky from his childhood. The blue of Crater Lake is nothing like the blue of the sky. But in his mind and his heart, he experiences the wonders of Crater Lake more fully than the naturalist could have ever imagined. And as he walks away, the naturalist realizes that the visitor “had extended his power of seeing – which was an achievement beyond price,” and that “We are all of us somewhat blind, even those who believe their eyesight is faultless.”

I love so many things about this story. My dad, who shares my love of national parks, gave a copy of it to Mom and me several years ago, and I’ve held onto it ever since. And my wise mother, who now leads Taylor’s Tale into an exciting future of new partnerships and boundless possibilities, shared Tilden’s essay with me again this week, urging me to apply the story toward our journey in our fight against Batten disease.

“We are all of us somewhat blind, even those who believe their eyesight is faultless.”

Because, as Mom reminded me, we embarked on this journey with our eyes focused directly on beating Batten disease. Our experience, though, has afforded us peripheral vision. We now understand the connection between all rare diseases – so many of which do not have a single approved treatment – and the millions battling for their lives. And just as the park naturalist and the blind man learned from one another, we, as fellow fighters and advocates, can learn from each other and support each other – and by doing so, we can become more efficient and effective. We will never reach our goals if we fight our battles in our own disease silos.

There is a very rare disorder called giant axonal neuropathy, or GAN. It is an inherited, recessive disease that first appears in early childhood. It results in nerve death and quadriplegia, and it is always fatal. The incidence is unknown, but it probably affects fewer than 100 people in the world.

Undeterred by these odds, the family of a little girl named Hannah decided to fight GAN head-on. In  2008, Lori and Matt Sames founded Hannah’s Hope Fund in their daughter’s honor. That same year, Hannah’s Hope began funding gene therapy for GAN at the University of North Carolina Gene Therapy Center under Dr. Steven Gray. The clinical trial is expected to begin later this year.

Two months ago, Taylor’s Tale and five partners announced funding for gene therapy for infantile and late infantile Batten disease at UNC, also under Dr. Gray. Our project is following in the footsteps of the GAN work that is on the brink of clinical trial. And Lori’s fight for her daughter could very well help lead to a treatment for kids like my sister. Dr. Gray plans to use the same gene vector and methods to treat Batten disease. And if the GAN trial is successful, we will, in Lori’s words, “move like wildfire to apply this to the lives of children with Batten.”

“…move like wildfire to apply this to the lives of children with Batten.”

Together, we can reach our goals. There are so many of us in the rare disease community, and there is strength in numbers. That is an advantage, but it is also the saddest thing of all. There are TOO MANY of us. We’ll change that when we play to our strength by finding treatments for people like Hannah and Taylor.

I think about how the landscape in central Oregon must have looked on the day of the volcanic eruption that created the most beautiful lake in the world. I know that many dedicated people, from the team at UNC to those working to ensure that their science is supported, will move like wildfire to outrun the death and destruction of diseases like Batten and GAN.

And every night, when another day’s work is done, I dream about how beautiful the lake can be when the eruption is over.

Twelve Reasons to Believe: Fellow Believers

By Laura Edwards

The following is second in a twelve-post series.

Day One of our journey fell on July 24, 2006 – the day a geneticist delivered the crushing news that Taylor has infantile Batten disease. The doctor told my parents nothing could be done. His words fell on deaf ears; on Day One, my family vowed to fight until we had nothing left.

On Day Two, we discovered we couldn’t do it alone.

A few months later, my mom and I founded Taylor’s Tale with a group of fellow believers in a friend’s living room.

Since that day, we’ve become a household name in the worldwide fight against Batten disease and an important voice in the rare disease community.

The road hasn’t been without twists and turns. We’ve run into our fair share of roadblocks and taken a few detours. We’ve picked up more than a few bumps and bruises along the way.

But we have several exciting projects on the horizon and a great team in place to bring them to fruition. And if we stay true to our never-quit philosophy, continue to surround ourselves with fellow believers and are fortunate enough to stumble upon a bit of good luck, we can change the world.


Yesterday, Mom and I spent the day with fellow believers Judy Mayer (who took over public awareness chair duties for me this fall) and Jane Grosse, our fund development chair.