Why Batten Disease Awareness Matters

Published: June 2, 2017 ~ 0

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.

Run to the Light

Published: June 1, 2013 ~ 4

By Laura Edwards

My little sister, Taylor, has Batten disease. But that didn’t stop her from signing up for Girls on the Run in the fall of 2008, at the start of her fifth grade year at The Fletcher School. The degenerative disease had already stolen her vision and made it difficult for her to learn new things, but more than anything, Taylor wanted to be a normal kid, and she dared Batten disease to get in her way.

In the afternoons after school, Taylor and her girlfriends met at the track for practice. They developed good fitness habits and learned about teamwork, and they learned to believe in themselves. An upper school student named Mary-Kate stayed after school to practice with the younger girls. When it came time to walk or run around the track, she and Taylor each took one end of a modified jump rope – my sister’s lifeline to a normal experience she desperately craved.

At the last practice of the semester, the girls ran a “practice” 5K around the school track. All of the other girls finished their laps before Taylor and Mary-Kate. Then, as the pair rounded the corner and began their final lap, something magical happened. One by one, everyone on the sideline joined my sister and her sighted guide on the track. Soon, the whole team, plus the coaches and others there to watch the practice, fell into stride with my sister and ran her final lap with her. Girls on the Run Founder Molly Barker happened to be on campus that day to watch practice and meet the girls; she captured this incredible moment in a story for North Carolina’s Endurance Magazine that Gap Inc. also featured in a national campaign last year.

Mom's photos 232

The team’s first REAL race took place on a chilly morning that December at the Jingle Jog 5K, run on the streets of uptown Charlotte in conjunction with the Thunder Road Marathon and Half Marathon. Mary-Kate told us that Taylor stumbled and fell several times on the course, but that after each fall, she pulled herself up, said she could keep running, and did just that. The tethered pair finished the race in just under an hour. They didn’t run fast enough to win an official award, but watching them cross that finish line remains one of the most moving things I’ve ever witnessed. In that moment, I realized that I could never, EVER give up on my sister or my fight against Batten disease. And when the trees bloomed that next spring, I started running for her.

Taylor and Laura after the Jingle Jog 5K in 2008

Taylor was all smiles after the Jingle Jog 5K in 2008.

I’ve run thousands of miles for Taylor since that day at the finish line of the Jingle Jog 5K. I run the Thunder Road Half Marathon every year and run various other races in Charlotte and elsewhere, from 5Ks to 10 milers, and I’ve shaved more than 30 minutes off my half marathon time since my first go at the 13.1 distance in 2009. But I’ve never come close to achieving the kind of feat my sister accomplished, because I’ve run every race with the benefit of my vision. That’s why, to honor the five-year anniversary of her incredible achievement, I plan to run the 2013 Thunder Road Half Marathon blindfolded.

I’ll be tethered to my good friend, Andrew Swistak. Andrew is an avid runner and is also on staff at The Fletcher School, where my sister spent six wonderful years and met many guardian angels. I’m grateful to have Andrew’s support as well as the support of the folks at Run For Your Life, who put on the Thunder Road Marathon and Half Marathon.

Andrew will be my sighted guide at the Thunder Road Half Marathon this November.

I’m in half marathon shape now, but I’m not ready to run 13.1 miles – or even 13.1 feet – without my eyes. Have you ever closed your eyes and tried to move around? It’s not easy to run in the dark. I’m in awe of Taylor’s spatial awareness and courage. Andrew and I have some practicing to do between now and Nov. 16, but we’ll be ready.

I’m doing this mainly to raise awareness of Batten disease, but donations to Taylor’s Tale are always greatly appreciated. Currently, Taylor’s Tale and five partners are supporting gene therapy for infantile and late infantile Batten disease at the University of North Carolina Gene Therapy Center. This promising work could lead to treatments for not only rare diseases such as Batten disease, but also more common diseases like Parkinson’s disease, Alzheimer’s disease and ALS (Lou Gehrig’s disease). If all goes well, this work could be ready to go to clinical trial at UNC in just a few years.

Please share this story to help us build awareness! We’re making incredible progress in the fight to save people like Taylor, but we need the support of friends like you to continue to make a difference.

I have a little bit of my sister in me; I believe, and I dare Batten disease to get in my way!

To support my run and our fight to develop treatments for Batten disease and other genetic diseases, click here.

NEW: Join the Taylor’s Tale team at Thunder Road! Click here to register for the marathon, half marathon or 5K. On the second page of registration, under “Event Groups/Teams,” select “Taylor’s Tale” from the list under “Choose an Existing Group.” Run for us to help raise awareness on race day. Stay tuned for more details, including special shirts for team members and an informal post-race event!

What Drives Me

Published: May 2, 2013 ~ 0

By Laura Edwards

Tonight marked the fifth annual meeting of the board of directors of Taylor’s Tale. I slid behind the wheel of my car at 9 p.m. – almost three hours after I pulled into my parking spot and long after a faded sun dipped behind swollen, purple clouds outside the windows in the board room.

Four-plus years have passed since we became a public charity; six-plus years have passed since we declared war on Batten disease. The discussion at tonight’s meeting reflected the incredible progress that has been made since my mom placed a bulk order for copies of The Cure, Geeta Anand’s stunning account of how John Crowley raised $100 million in an effort to save his children from Pompe disease, and distributed them to a small battalion of hand-picked soldiers in a Charlotte living room in the fall of 2006.

Tonight, my mom sat at the head of a board room table to deliver her updates. Some of the faces around the table were the same; some of them were different.

One month ago, Mom attended the first Southeast Venture Philanthropy Summit in Chapel Hill. Other attendees included the Michael J. Fox Foundation, the Gates Foundation and sleek biotech companies of all shapes and sizes.

Three days ago, Mom and two other board members toured the University of North Carolina’s Gene Therapy Center Vector Core – the most advanced facility of its kind in the nation. Down the street, one of the nation’s top gene therapy experts, Dr. Steven Gray, is leading a two-year gene therapy study for two forms of Batten disease that is partially funded by Taylor’s Tale. If successful, the work could lead to a human clinical trial in just a few short years. And as much as we want this for Batten disease, it’s much bigger than that. If Dr. Gray gets this to work, it can treat a lot of people with all types of problems; the principles can be applied to many other diseases – from Parkinson’s disease to ALS (Lou Gehrig’s disease) to Alzheimer’s disease…I could go on. And not only that, but it will be a one-time, low-cost, minimally invasive treatment as opposed to life-long, expensive, potentially invasive treatments that – in many cases – address some of the symptoms but don’t treat the disease.

Seven years ago, I was learning the ropes of healthcare marketing and PR, coaching a girls’ soccer team, covering sports for the local paper and planning a wedding. I had a half-finished young adult novel and figured I’d get to it as soon as the honeymoon ended.

That all changed when I got the phone call.

Google “neuronal ceroid lipofuscinosis” and skim the search results. That’s how I first learned about our new world – and Taylor’s – on July 24, 2006, sitting at my desk at work, with my sobbing mother on the other end of the phone line.

The geneticist who diagnosed my sister said we shouldn’t bother with hope. My response from day one was “Screw that,” but fighting is easier said than done. It’s never been easy.

We’ve lost so much since that day.

But I’m proud of what we’ve achieved. Mom’s reports at tonight’s Taylor’s Tale board meeting embodied all that our team has accomplished and the astounding impact we stand to have.

Our fight began because of our love for one little girl. In those early days, we saw the love and the laughter and the courage that we so cherished about Taylor embodied in all of the children fighting Batten disease, and we fought for them too.

As we forged on, we learned more about the impact of rare disease: 30 million people in the United States – and 350 million worldwide. We realized that we could be doing more with the incredible scientific innovation we already have. We partnered with or endorsed organizations like the Global Genes Project and the EveryLife Foundation and went to Washington to lobby for all those fighting a rare disease.

And as we learned more and more about the wonders of gene therapy and the incredible people behind it, we realized that we could be part of something bigger than we ever imagined.

The possibilities of the immediate future and these next few years are boundless, and my mind races as I think about the impact we – the little group called Taylor’s Tale that my mom and I and a group of women who don’t like to take “no” for an answer founded in a mishmash circle of couches and ottomans and chairs over pimento cheese and egg salad sandwiches – could have – directly or indirectly – on millions of people.

That’s what drives my mind.

But in my heart, I’ll always be driven by my love for “T.”