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.


Might as Well Keep Running

By Laura Edwards

Yesterday afternoon, I drove to Davidson, NC, a quaint college town about 30 miles north of my home in south Charlotte, to take part in the second annual 24 Hours of Loopy on the town Green, an event to promote awareness of Batten disease and raise money for the Batten Disease Support & Research Association. When I arrived a few minutes after 2:30, a totally loopy, totally awesome ultra marathon runner named Jeff McGonnell had already been circling the patch of grass in front of the public library for close to 19 hours. Various others had come and gone – from serious runners in Jeff’s Davidson Area Running Team (DART) group to fun-loving 5-year-olds to walkers.

loopy costumeI slipped into the rotation a few minutes before 3 p.m. After my last race in April, I took it easy for most of May, and I didn’t expect to tally more than a couple of miles, maybe five or six at most, before finding a golf chair and kicking back to enjoy the live music. But I was having too much fun to stop at mile six. At mile seven, I picked up new garb (in return for making a donation, spectators could dress runners in crazy costumes). At mile 10, I realized I had enough time to run 3.1 more, even with a break for two oatmeal raisin cookies from the Soda Shop across Main Street. I hadn’t run more than eight miles since a 10-mile race on April 21. I hadn’t trained for a half marathon. I hadn’t eaten a pre-half marathon dinner the night before or half-marathon breakfast or lunch before leaving my house the day of (in fact, I’d inhaled two brownies on my way out the door). But I had blue skies overhead, a gentle breeze on my skin, live music on the course and a supportive crowd that included my parents and Taylor. I had pig ears on my head, a red boa around my neck and a grass skirt around my waist (what?! :)). I’d set out that day to run for Taylor. I still felt strong. Nothing hurt – too much. So I figured I might as well keep running.

Thirty minutes later, I finished my unofficial half marathon just as Jeff McGonnell began his final lap around the Green.

Some days, I want to quit fighting this fight. Just walk away. Some days, it just hurts too much. Some days, the hills are just too steep.

But somehow, I keep finding a way to shake those days off. I never stop hurting. I’ve never found flat ground. But I’ve never stopped fighting.

I entered this race. I’ve got some momentum. It doesn’t always feel good. I don’t get to stop and rest whenever I choose. But I’ve made progress. I hurt, but not so much that I can’t run. So I might as well keep running.

Laura and Taylor after Loopy


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.


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 www.taylorstale.org.)
  • 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.