On July 24, 2006, we learned that my little sister, Taylor, had 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 promising and bright and the knowledge that all children born with Batten disease die from Batten disease.

Over the past six plus years, the second hardest thing to face has been the gauntlet that is the world of rare disease research and the struggle to maintain the resolve required to fight for the lives of children like Taylor, a fight that grows more difficult as Taylor’s own light fades.

Since 2007, Taylor’s Tale, the 501(c)3 non-profit organization we founded to help give children like Taylor and families like ours a chance to believe, has raised about $400,000 for the fight against infantile Batten disease. Those funds– mostly 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 helped spark new interest in infantile Batten disease research among scientists. We’ve witnessed incredible progress.

But we still don’t have a treatment. Taylor swallows about 30 pills a day and goes to multiple therapy appointments weekly. The pills and therapies address her symptoms (somewhat) but they don’t touch the disease, which continues to take pieces of her away from us.

About 18 months ago, we talked with a gene therapy expert who has taken a disease similar to Batten to the brink of clinical trial. He laid out a plan for our disease.

He could do the initial work for $150,000. From start to finish, the project would cost $3-5 million. If all went well, he could deliver treatment to real kids– not mice, dogs or monkeys- by early 2016; just three years from now. I’m very excited about this expert’s work, but I can also 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 it’s so rare…”

The June 2012 issue of Reader’s Digest published a list* of studies and programs funded by federal tax dollars and their 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
  • 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 five studies cost $2,142,757: almost half our expert’s max expected cost to develop a life-saving treatment for children with a fatal disease that has no cure.

Last summer, the 25th annual Batten Disease Support & Research Association conference, a gathering of affected families and experts, came to my hometown of Charlotte. There are many things about the conference, which I try to attend each year, 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 been about connecting with experts 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 MDs 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 the 25th conference was our sixth, and we still don’t have a treatment. 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 know– maybe not my sister, but others and many more 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, anyone wouldn’t jump at the chance to spend less than half that to kick-start a study that could save children living NOW – and children yet to be born? And if we can spend nearly $2.2 million in federal funds on five studies that don’t save lives, wouldn’t we be willing to spend just a little more to save the life of even one child – let alone hundreds or thousands?

*Wastebook 2011, produced by Sen. Tom Coburn

5 thoughts on “Knowing Firsthand the Struggles Associated with Infantile Batten Disease, Laura asks, “What is the Price of Life?””

  1. Shellye Watson says:

    I couldn’t agree with you more! My 6 year old niece was diagnosed with BD almost two years ago, and boy has my way of thinking changed. I find that not only do I think about her/pray for her every minute of the day, but I am constantly nitpicking the way the human race spends its money when we could do SO much with so little(in the grand scheme of things). I find(and this is terrible, please don’t judge)myself getting frustrated at the amount of money celebrities donate to “cancer awareness”! While I am all for them donating to the finding of a cancer cure, or helping pay for a cancer patients treatment, I am pretty sure there isn’t an adult human alive who isn’t “aware” of cancer!! Yet it seems like no one has heard of Battens, sometimes it seems like no one cares to learn. It feels like they hand you your life sentence along with your diagnosis and send you on your way! If we could get just one or two celebrities to look our way, I have NO doubt that they couldn’t help us get some funding AND get the word out. Yet emails I’ve sent go unanswered, I’m sure some unread. Sorry this got so long, but THANK YOU for your words!!

  2. Shellye,

    Thank you so much for sharing your thoughts! I am so sorry to hear that your niece has Batten disease. I can relate to your frustration regarding the huge amount of money spent on cancer awareness – in fact, I published a blog post on the topic during Breast Cancer Awareness Month last year. You can read it here: https://writethehappyending.com/2012/10/01/pink-for-one-heck-of-a-price-tag/. I’m with you when you say that you’re all for donating to the search for cancer treatments. Cancer is a terrible disease, and I want answers for the millions of patients and families facing cancer. But the problem is that the fight against cancer – especially breast cancer – has become “cool” to the extent that we’ve forgotten why and what we’re fighting. We’ve lost sight of the goal. As I shared in my blog, we’re spending millions of dollars to outfit NFL players in pink from head to toe every October when we could accomplish the same goal by projecting images of pink ribbons on the fields during TV broadcasts and giving the announcers talking points to share during the games.

    Keep fighting – for your niece, for Taylor, for all those with Batten and for the entire rare disease community. We ARE making progress, and we WILL find answers. We have a lot of work to do and a tough road ahead. But I BELIEVE.


  3. Laurene,

    Thanks for reading and sharing. My life changed the day we received Taylor’s diagnosis, but the truth is, rare diseases affect ALL of us! Thirty million Americans and 350 million people worldwide have a rare disease, so chances are, everyone knows and loves someone who is affected by a rare disease. I’m grateful that Taylor’s Tale has organizations like the Global Genes Project on its side to help fight for better opportunities for the rare disease community.


  4. I have admired your strength from the beginning Laura, when I first saw Taylor’s Tale. My son Christopher passed from Batten at age 8 – and it’s been 9 years. I too get frustrated when I see so much money wasted on studies that really have no meaning – mostly to justify someone’s job somewhere. I can’t even begin about pink ribbons, and pink KitchenAid machines, and on and on…. Keep fighting. I go to conference to help others dealing with the sad reality of Batten, and hope my experiences can help them along somewhere. It is a much different experience once your child has passed. I’m very thankful your family is aggressively seeking an answer and progress towards a cure. Thanks for all you do.

  5. Thanks so much for your kind words, Peggy. I’m very sorry for your loss; your son Christopher and my sister Taylor are why I do what I do, day in and day out. It’s never easy, but part of the reality of fighting a rare disease is that we have to keep fighting for ourselves if we want anything to change. We can’t sit back and wait for someone else to care. No one else will ever care as much as we do. Keep your eye on Taylor’s Tale; we have some exciting things just around the corner! And we’ll never, EVER back down. https://www.taylorstale.org

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