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

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