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Doctors, scientists and patient organizations like Taylor’s Tale – the nonprofit I co-founded to advance breakthrough treatments for Batten disease and advocate for life-changing public policies – are investing a lot of time and resources in finding life-saving treatments. After all, CLN1 disease, or Batten disease, is universally fatal, like many other rare diseases.

Since 2007, Taylor’s Tale has made significant contributions to help advance important work in gene therapy, enzyme replacement therapy, and small molecule drug therapy. I’m proud that soon a gene therapy clinical trial for CLN1 is starting because my family had a dream.

Clinical orientation: a gaping hole

Yet this vital work fails to solve a major problem: With few exceptions, the Batten disease community lacks the clinical management advice needed to improve the quality of life for patients.

For 12 years, I watched my younger sister, Taylor, suffer because even some of the best doctors in the area had never seen her condition in one of their own patients. And as her symptoms worsened in later stages, the best approach for intractable seizures, eating issues, and other issues was often anyone’s best guess.

I remember the day my sister’s wheelchair arrived and the last time she swallowed food. I remember the fits that brought her to the hospital and all the times my family said goodbye to her in the days leading up to her last breath.

Unfortunately, we have experienced firsthand the power of degenerative disease to ruin the quality of life of patients. Consider the far-reaching effects of CLN1 disease, with symptoms such as:

  • Developmental delays
  • Psychomotor regression
  • Seizures
  • Ataxia
  • Movement disorders
  • Loss of speech
  • Acquired microcephaly
  • Visual impairment
  • Premature death

Current international partners

That’s why Taylor’s Tale led an international effort to create a consensus statement on clinical care for CLN1 disease. We brought clinicians, researchers and patient advocates together, hosting a live meeting and administering a survey remotely. The perspectives of families helped ensure that the needs of those fighting on the front lines were taken into account.

In April, this effort led to the publication of an article, “Management of CLN1 Disease: International Clinical Consensus,” in the journal Pediatric neurologisty. My mother, Sharon King, co-founder of Taylor’s Tale, is among the co-authors of the study.

The fact that a major in applied piano and former music teacher appears alongside internationally renowned doctors, scientists and other subject matter experts is a testament to the sheer will of a parent whose child has been taken from them. . My little sister passed away almost three years ago, but mom’s determination to beat Batten disease has only grown.

Much like the treatment Taysha Gene Therapies will follow to the finish line, the clinical care guidelines released this spring are my sister’s legacy, not her life. Taylor will never benefit from the progress she inspired. But like the imprint she left on this big sister’s heart, her story continues to lead to lasting change.

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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 be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of your doctor or other qualified healthcare professional with any questions you may have regarding a health problem. Never disregard the advice of a medical professional and do not 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 aim to spark discussion about issues related to Batten disease.

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