Seeking patience in the fight against Batten disease

More than 17 years have passed since the sweltering July day of my sister’s CLN1 disease diagnosis, so please forgive me for what I’m about to say: I’m losing patience in the fight against Batten disease.

I’m a distance runner with more than 40 half-marathons to my credit. I own and celebrate what my husband calls a “lunatic love of moving my legs constantly for long periods of time without any real destination and no monsters chasing me.” I’ve labored up huge hills and covered crazy ground. I’ve pushed an unstoppable engine — my heart — and mangled wheels — my ankles — to their limits. I’ve learned to endure the hard times for the promise of good times and, sometimes, a finish line.

But in a fight against Batten disease that’s too personal for me, my patience has nearly worn out.

Recommended Reading

July 20, 2023 News by Andrea Lobo, PhD

Theranexus global offering will fund juvenile Batten disease Phase 3 trial

Crushing news

Seventeen years is a long haul — plenty of time for anyone to experience their fair share of adversity. And while I’m not interested in pity, I’m painfully aware of the burden my family has shouldered.

I’m also not one to measure grief or pain by comparison. Try as I might, I simply can’t accept that a family with multiple affected children is somehow two or three times more tormented than a family with one. At the same time, I can’t claim to understand what those families endure because I watched a sibling die.

Since I won’t compare my experience with someone else’s, I’ll stick to what I know.

Twelve days before my wedding, my 7-year-old sister, Taylor, was diagnosed with retinitis pigmentosa (RP). Between packing, final dress fittings, and first dance practice runs, I researched the rare eye disease and tried to convince myself that my flower girl could still live a full life.

Exactly six weeks later, the results of a long-shot genetic test arrived — Taylor didn’t have RP after all. The true culprit, CLN1 disease (a form of Batten), wouldn’t just take her vision; it’d take her life.

Before long, I’d joined my mom, Sharon King, and other volunteers in founding Taylor’s Tale, an advocacy and research nonprofit. Deep inside, I harbored a profound but largely private belief that my sister would live. In those early days, it certainly seemed possible. In the first 16 months after Taylor’s diagnosis, we raised more than $100,000 to study a disease no labs were researching.

In 2008 and 2009, I watched Taylor run two 5K races with her classmates. Five years later, Batten disease stole her ability to walk.

In 2013, Taylor’s Tale funded Steve Gray, a young investigator at the University of North Carolina School of Medicine’s Gene Therapy Center. While other approaches we’d supported showed some promise, we were determined to find a more permanent fix.

I’ll never forget the mix of emotions I felt when I introduced Dr. Gray to Taylor’s Tale supporters at a Rare Disease Day event in Charlotte. I knew it was our chance to beat Batten disease. But I also knew that Taylor, then almost six years post-diagnosis, wouldn’t live to benefit from our efforts. Today, more than halfway through 2023, we’re still waiting for the first child to receive that miracle treatment for CLN1 disease.

My worst fears came true in 2018. The sky fell right after Labor Day, when Taylor was admitted to the intensive care unit with intractable seizures. For three weeks, my little sister clung to life, fighting it the way she’d fought every other challenge in her short time on earth.

Six days after I became a mom, Taylor gained her angel wings. We said goodbye to her in an inpatient hospice unit just a few floors from where my son was born. Taylor, 20, and my newborn baby “met” via a short FaceTime call. But they were never in the same room.

A light in the darkness

We all could have abandoned our fight against Batten disease after Taylor’s death, and no one would have questioned our decision. But quitting wasn’t Taylor’s way.

That’s largely why, three days after the memorial service in a packed church, Mom boarded a plane bound for California and the Global Genes RARE Advocacy Summit, where she’d attend important meetings and the screening of a new film, “At the Edge of Hope,” featuring our story.

It’s also why, five weeks after my sister’s death, I shirked every postpartum convention and ran a half-marathon blindfolded — for the second time. It’s why, later this year, I’ll attempt to break a world record for the fastest blindfolded half-marathon.

I’ll admit I’m not as plugged in to the rare disease community as I once was. I have a demanding day job and a high-energy child. I have personal goals, such as writing novels and scaling mountains, that I shelved for many years to focus on saving my sister.

But although CLN1 disease and the passage of time have tested my patience, I’m still here, scratching and clawing and believing in better.

My sister is my light in the darkness. And when the going gets tough, I always find my second wind. That’s when Taylor’s light shines most brightly.

Note: Batten Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Batten Disease News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Batten disease.