Why the First Approved Treatment for Batten Disease Can’t Be the Last

By Laura King Edwards

Today I’m celebrating a milestone for the Batten disease community: one form, late infantile NCL (LINCL), now has an FDA-approved treatment. The FDA granted approval for the enzyme replacement therapy to BioMarin Pharmaceutical Inc.

Like everyone at Taylor’s Tale, I’m committed to building a better future for kids like my sister, and I’m proud of my friends whose passion and hard work made this incredible achievement possible for kids suffering from LINCL.

But on one of the biggest days for families like mine in the 114 years since a British pediatrician first described Batten disease, I think it’s important to remember that Brineura, the first FDA-approved treatment for any form of Batten disease, is a checkpoint. It’s not the finish line.

There are at least 13 different forms of Batten disease. Each is genetically distinct, caused by different genes. That means even similar forms, like infantile Batten disease and late infantile Batten disease, might respond differently to various treatment approaches.

When the highly publicized case of Charlotte and Gwyneth Gray, whose family founded CureBatten, grabbed national news headlines in the past two years, some friends asked me if I was relieved that Taylor’s Tale no longer had to fight for kids with Batten disease. (You can read my blog about CureBatten here.) What those friends didn’t understand is that the gene therapy treatment the Gray girls, who suffer from a variant form of LINCL, eventually received in a clinical trial at Nationwide Children’s Hospital can’t be administered to kids with INCL, JNCL, or any other form of Batten disease. That’s because the Grays’ gene therapy treatment addresses a different gene and is delivered via a different method than the INCL gene therapy treatment developed by Dr. Steve Gray in North Carolina, work we helped fund.

Besides the fact that all of these forms of Batten disease are genetically distinct, it’s also important to understand that with any disease, some patients will tolerate certain treatment approaches better than others. My father-in-law passed away from lung cancer late last year after a near-three-year battle. In a 35-month span, he was treated with chemotherapy, radiation, surgery, a drug trial, and likely other things I’m forgetting. He took some treatments like a champ, even going into remission several times. He couldn’t tolerate other treatments. And I’m willing to bet every lung cancer patient in the clinic where he received care had a different story.

The world is a better place when patients have options.

If you care about kids like my sister, or if you love someone like my sister, you should celebrate today. Today is an example of what can happen when families aren’t willing to take ‘no hope’ for an answer. Families who keep fighting even after their own children are gone. Families who believe even when they know that bright future isn’t their bright future. I just don’t think it means that after we eat a piece of cake and celebrate, we should move on and forget about all of the kids who still desperately need us.

My mom told me that this afternoon, she was writing a Facebook post about the FDA approval for Brineura. But then Taylor had a bad seizure, and she never finished the post.

“It was like she was saying, ‘Mom, you’re sitting over there celebrating, but you’d better celebrate fast. You still have work to do.'”

I’m thankful for progress. This is one of the greatest days in my own 11-year journey to beat Batten disease. But I’m still fighting for a reason.

Twelve Reasons to Believe: Our Donors

By Laura Edwards

The following is 10th in a 12-post series.

Taylor portraitIncreasing awareness of Batten disease and advocating for the rare disease community are crucial to our mission to save children like Taylor, but let’s be honest – fundraising is really important, too. It costs money to do the kind of work that could one day (very soon!) lead to a life-saving treatment, and people who suffer from ultra-rare diseases depend on organizations like Taylor’s Tale to fund the foundational work that will get a biotechnology company like Genzyme or Biomarin interested in taking the treatment to market.

That’s why we can tell inspiring stories for the rest of our days, but without the generosity of the individuals who’ve given close to $400,000 to Taylor’s Tale since 2007 (including about $12,000 just in the past few weeks in response to a holiday letter from my mom, our current president), we never would have been able to fund the development of the enzyme that kids like Taylor lack at the University of Texas Southwestern as well as other important work. We would not be on the verge of beginning an exciting new project.

To make a tax-deductible gift to Taylor’s Tale in support of our fight against Batten disease, visit our website. For your convenience, you can make a secure payment online via PayPal; if you prefer, you can also send a check by mail. A link to a printable donation form is provided. Give Now

If you’ve already made a gift – whether recently or at any time since our founding nearly six years ago – thank you.

You give me reason to believe.