Focusing on Better Quality of Life in Batten Disease

Like life, Batten disease is a game of inches.

Get approved for physical therapy? You may walk long after your eyes stop working. Get denied those services? You may stop walking long before modern medicine says you should. Consume the perfect cocktail of anti-seizure medications? You may just have a calm night. Miss a dose? You may just punch a ticket to the emergency room.

It sounds extreme, but I watched my younger sister, Taylor, and our parents walk this tightrope for well over a decade. Taylor was always willing to meet Batten disease halfway, whether that meant spending the afternoons after school inside for therapy sessions while her friends played outdoors, or lying perfectly still for two-hour MRI scans. But Batten disease refused to play fairly.

To make matters worse, the healthcare system frequently failed my sister. Arbitrary rules forced her doctors to prescribe ineffective medications. Bureaucrats decided to cut off her physical therapy services when she could no longer show measurable gains, missing the point of a degenerative disease.

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Even before Taylor’s CLN1 disease (Batten disease) diagnosis in 2006, my parents played every card to give their youngest child quality of life. From physical and occupational therapy to a computer screen reader known as JAWS, Braille education, and consultations with medical experts in faraway states, Taylor entered the fight for her life with considerable tools.

The greatest of these tools, however, came from Taylor herself. My sister’s indomitable spirit did more for her quality of life and, for many years, her survival until one day it stopped being enough. She died five weeks after her 20th birthday, when many of her friends were beginning their junior year of college.

I often dream about what Taylor’s life could have been if, like me, she had been an unaffected carrier. But while we couldn’t change Taylor’s genetic code, the world could have done more to change her quality of life while she was still alive. That’s largely why Taylor’s Tale, the nonprofit organization our family and friends founded in 2007, funded the development of the first clinical care guidelines for CLN1 disease. The guidelines were published in the journal Pediatric Neurology last year.

It’s a far cry from Batten disease, but I’ve been facing my own physical struggle since having major ankle surgery in January. In addition to having one of the loosest ankles my surgeon had ever seen, I’ve experienced nerve complications that have made my recovery more painful and slower than expected.

I went from running up to 35 miles a week — and even completing a half-marathon just weeks before the surgery — to being unable to bear any weight and totally dependent on a scooter and crutches for seven weeks.

Thanks to intensive physical therapy and the passage of time, I’m starting to see the light at the end of the tunnel. I can finally cover short distances in a walking boot, giving me a measure of independence I once took for granted but suddenly craved. My surgeon says that if I keep making gains, I may even be able to run a race for Taylor in my 26th of 50 states by late summer.

When I leaned my crutches against the wall and took those first few steps in a walking boot, the feeling was indescribable. I have a long way to go, but after bearing zero weight on my rebuilt left ankle for so long, even a few inches provides a precious taste of the gift of mobility.

In the rare disease community, we mostly talk about treatments and cures. But what about better quality of life? What could children like Taylor do with a few extra inches?

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.