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Like life, Batten disease is a game of thumbs.

Getting Approved for Physiotherapy? You can walk long after your eyes have stopped working. Being refused these services? You can stop walking long before modern medicine tells you to. Consuming the perfect cocktail of anti-epileptic drugs? You can just have a quiet night. Miss a dose? You can just punch a ticket to the emergency room.

It sounds extreme, but I watched my younger sister, Taylor, and our parents walk that tightrope for over a decade. Taylor was always willing to deal with Batten’s illness midway through, whether that meant spending afternoons after school indoors for therapy sessions while her friends played outside, or staying perfectly immobile for two-hour MRIs. But Batten’s illness refused to play a fair game.

To make matters worse, the healthcare system has often let my sister down. Arbitrary rules forced his doctors to prescribe ineffective drugs. Bureaucrats decided to cut her physiotherapy services when she could no longer show measurable gains, missing the point of a degenerative disease.

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Even before being diagnosed with Taylor’s disease CLN1 (Batten’s disease) in 2006, my parents played all the cards to give their youngest child a quality of life. From physical and occupational therapy, to a computer screen reader known as JAWS, to braille education and consulting with medical experts in faraway states, Taylor has 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 wasn’t enough. She died five weeks after her 20th birthday, when many of her friends were starting their freshman year of college.

I often dream of what Taylor’s life might have been like 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. It is largely for this reason that Taylor’s Tale, the non-profit 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 hardly Batten’s disease, but I’ve been dealing with my own physical struggles since undergoing major ankle surgery in January. Along with having one of the loosest ankles my surgeon has ever seen, I experienced nerve complications that 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 a few weeks before surgery – to being unable to bear any weight and being totally dependent on a scooter and crutches for seven weeks.

Thanks to intensive physiotherapy and the passage of time, I am beginning to see the light at the end of the tunnel. I can finally walk short distances in a walking boot, giving me a certain independence that I once took for granted but suddenly craved. My surgeon says if I keep making gains, I might even run a race for Taylor in my 26th of 50 states by the end of the summer.

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

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

To note: Batten Disease News is strictly a disease news and information site. It does not provide medical advice, diagnosis or treatment. This content is not intended to replace professional medical advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health care provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay seeking it because of anything you 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 Batten disease issues.