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/

Why Batten Disease Awareness Matters

By Judy Mayer

Each year during the first weekend in June, the Batten Disease Support and Research Association (BDSRA) and other patient organizations recognize Batten Disease Awareness Weekend. This Saturday, June 3 and Sunday, June 4 are dedicated to sharing the need for critical research and support for affected families.

My First Known Encounter With a Rare Disease

I still remember the day 20 years ago when a rare disease first attracted my attention.

I was attending a young friend’s soccer game when the father of another player arrived at the field in a wheelchair. Previously the picture of health, this 40-something man and his pretty, petite wife once walked to the playing field, cheerfully talking to other spectators and looking forward to a good game.

Now the wife struggled to push the enormous wheelchair of her clearly disabled husband.  Now they hated to look forward at all. 

I subsequently learned that this man had ALS, also known as Lou Gehrig’s disease. In an instant, one visit to the family doctor and one diagnosis had irrevocably changed his life and shattered his family’s emotional security.

Over the next few years, I saw this man at other games, school plays and moving-up ceremonies…the milestones great and small that create a life. Each time I saw him, the disease had taken away more of his capabilities. His family, though dedicated to involving him in their activities to the extent possible, increasingly showed the signs of stress that result from bravery in the face of overwhelming odds.

After his passing, this man’s story stayed with me – a reminder that life is a succession of surprises, some awesome and others awful.

Batten Disease Enters My World

I immediately recalled this man and his battle with ALS when my friend, Sharon King, called to ask me to serve on the board of Taylor’s Tale, founded in the name of her precious daughter who has infantile Batten disease. 

Another life, and another family devastated by the diagnosis of a rare disease. But this time the news was a bit closer, within my circle of friends.

Of course, I responded. I would do whatever I could to help. That’s what friends do for each other. And perhaps along the way, I would support a worthwhile contribution to humanity. 

While my actions were commendable, there remained a certain detachment. And in truth, a sense of relief that I was helping their family, supporting their efforts to deal with a rare disease.

Rare Disease Hits Even Closer to Home

After I’d been involved with Taylor’s Tale for some time, my adult daughter called to tell me she had health issues that could possibly be attributable to a rare disease.

I was shocked. Even with experience as a rare disease advocate, I was totally unprepared for the wave of fear that swept over me.

Another diagnosis, another life threatened and another family facing the unthinkable. My previous detachment crumbled, replaced by sheer terror. This time it was my family.

Ultimately, my daughter’s health issues were determined not to be the result of a rare disease. But while I am eternally grateful, I will also never forget the sense of helplessness and despair created by even the possibility.

The truth is that rare disease is closer to all of us than we want to acknowledge. One in every 10 Americans has visited the family doctor thinking that a random symptom will be cured by a wonder drug or possibly surgery, only to learn that getting a rare disease diagnosis is challenging, treatments are not assured, and cures are too often years in the future – maybe not in time for them. 

The other tragic truth about rare disease is that rare diseases are not at all rare. But the encouraging fact is that each of us can bring real hope for a better future by supporting organizations like Taylor’s Tale and BDSRA – organizations that are truly improving the prospects for rare disease patients. To do so, we have to be present 365 days a year, not just for a single weekend in June.

Rare disease patients are our neighbors, colleagues, parents, spouses, children…ourselves. Detachment from the reality of rare disease creates an illusion of safety and normalcy that is but one diagnosis from vanishing.

No one ever seeks to join the rare disease community, but we are all members nonetheless.

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?’

Batten Disease Awareness Weekend

By Laura Edwards
How did you first hear about Batten disease?

Nearly five years ago, I was sitting at my desk on a Charlotte hospital campus when I heard that awful phrase for the first time. I was writing a press release when my mother called to tell me through tears that a geneticist had just told her and my dad that my 7-year-old little sister was going to die.

I wish I’d never heard of Batten disease. I wish I could wrap my brain around the idea that one single defective gene out of the estimated 20- to 30,000 we humans have can cause all of the terrible things that are a part of Batten disease. But a large part of me is glad that I can’t always wrap my brain around the truth that all of those terrible things are happening or will happen to my little sister, now 12. Because it’s during those moments of truth that I’m engulfed by feelings of helplessness and despair.

I’m proud of all that Taylor’s Tale has done to advance the search for a cure. Nearly $300,000 and many stories later, we’re much closer than we were on the day of that fateful phone call. More than that, however, I’m proud of my family for how they’ve faced this monster each day with nothing but hate for it and love for each other. And most of all, I’m proud of my sister for never losing her beautiful spirit – even in those moments when the twisted demon of a disease is at its strongest.

Today marks the beginning of Batten Disease Awareness Weekend, so I have a small favor to ask: over the next few days, please make a point to share Taylor’s Tale with everyone you know. Scientists are very close to finding an answer for infantile Batten disease, but that answer will never reach the children who so desperately need it unless more people know about it. Batten disease is anonymous in the eyes of much of the world, and that has to change. Then, and only then, will we witness a miracle worthy of the courage that lives in each and every one of these children.

New Video from BDSRA

By Laura Edwards

Please take a few minutes to watch this new video from the Batten Disease Support and Research Association (BDSRA), filmed at the organization’s annual conference in Chicago in August 2010. It’s a wonderful collection of perspectives from families and other individuals deeply affected by Batten disease. I’m featured on the video starting around the 4:30 minute mark. Thank you so much to our friends at BDSRA for creating this great tool in the fight against Batten disease and for allowing me to tell my story. Remember, you can help us fight this tragic disease by spreading the word and also by making a donation here. Thank you for your support!

[vimeo w=400&h=225] The Batten Journey from On Scene Digital Printing on Vimeo.

Batten Disease Awareness Weekend

By Laura Edwards

This weekend marks International Batten Disease Awareness Weekend, a time dedicated to raising awareness of Batten disease. For Taylor’s Tale, it’s a time to share our story.

If you can do just three of the following easy ideas to raise awareness of Taylor’s Tale and Batten disease sometime this weekend, you can help us write a happy ending for all children like Taylor.

How You Can Help 
  • Watch the Taylor’s Tale video if you haven’t seen it, and share it with your friends.
  • Share our Facebook page with your friends by recommending it.
  • Pledge your status on Facebook, Twitter, etc. with a donation call to action and link to the Taylor’s Tale site (Example: Every child deserves a happy ending. Help children with Batten disease by making a donation at
  • Wear your Taylor’s Tale T-shirt over the weekend. If you don’t have one, don purple clothing or a purple ribbon.
  • Share Taylor’s story with three people who have never heard of Taylor’s Tale.
  • Make your email signature purple for the weekend and following week.