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Sharon King wished she had standardized clinical care guidelines when her daughter, Taylor King, who was 20 when she died in 2018 of neuronal ceroid lipofuscinosis type 1 (CLN1), was alive.

King remembers taking Taylor to their pediatrician’s clinic because she was sick and feverish. The doctor on call didn’t know anything about Taylor or her rare condition, so they spent the night in the hospital out of an abundance of caution. It turned out to be just a virus.

But having guidelines for CLN1, also known as childhood Batten disease, would have helped the doctor understand the situation and could have saved the time and expense of a trip to the hospital, King said.

“If only I had had access to that expertise, to that knowledge from day one, it could have been a huge game-changer for Taylor’s better quality of life,” said King, who started the association at nonprofit Taylor’s Tale to fund research shortly after Taylor’s death. diagnosed in 2006, in an interview with Batten Disease News.

Taylor King (center) surrounded by his family. Left to right: sister Laura King Edwards, father Jim King, brother Stephen King and mother Sharon King. (Photo courtesy of Laura King Edwards)

This is one of the reasons it was important for the King Foundation to fund the report.”Management of CLN1 disease: international clinical consensus», published in the journal Pediatric neurology Last year.

King hired a project manager and assembled 15 international experts to draft the guidelines. It all grew out of a 2016 conversation between King and Margie Frazier, who at the time was executive director of the Batten Disease Support and Research Association.

As previously reported in Batten Disease News, a systematic review of published evidence was conducted to develop key statements, which were discussed at a three-day consultative meeting in Durham, North Carolina, and supported by online questionnaires. line specific to experts and caregivers.

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The expert-specific survey was completed by 15 people from seven countries on four continents. These included 10 pediatric neurologists, a neuropsychologist, a metabolic specialist, a developmental physiotherapist, a palliative care nurse and a social worker. The caregiver-specific survey was completed by 39 primary caregivers from six countries.

The consensus statements became guidelines for care, focusing on 14 topics including early diagnosis, seizures, movement disorders, vision problems, end-of-life care and family support.

Foreclosure control was an important issue for King, who is also named a co-author of the report. King still had to make the decision of whether to layer additional anti-epileptic drugs onto Taylor’s regimen, which would make her drowsy and less alert, or watch her have more seizures. She was happy to see the document discuss the difficult balance that parents face.

“Caregivers expect some amount of sedation to achieve better seizure control, but most prioritize maintaining alertness and the ability to interact over seizure control,” the authors wrote. authors of the study on the basis of the results of the survey specific to caregivers.

The study also addressed the use of non-pharmacological options, such as a ketogenic diet, to treat seizures. King said the diet helped his daughter, and three experts said they saw improvement in some of their patients.

King started Taylor’s Tale with his eldest daughter, Laura King Edwards, of Charlotte, North Carolina, in 2007. Edwards, 39, lives two miles across the border in South Carolina. Its main objective was funding research that could lead to a treatment for Taylor, who was 7 when diagnosed with CLN1.

“It didn’t take me long to decide that Taylor’s illness was something I couldn’t just watch happen. I had to get involved,” said King, who is also head of advocacy and community engagement at Aldevron, a biotech company.

Laura King Edwards completes the 2018 Charlotte Half Marathon, weeks after Taylor King’s death and the birth of her baby, Jack. (Photo by Dan Salvo)

Edwards, 24 at the time of his sister’s diagnosis, had just returned from his honeymoon. His background in corporate communications would prove invaluable to Taylor’s Tale, but so would his racing abilities. Due to Taylor’s participation in Girls on The Run 5K races, despite being blind, Edwards was inspired to start running (in some cases blindfolded) to raise awareness and funds for Batten disease. She is halfway to her goal of running races in all 50 states.

“My mom and I decided that day that we weren’t going to sit and wait for this horrible thing to happen to Taylor and we certainly weren’t going to sit and wait for other families to receive a similar diagnosis that came with literally no hope,” said Edwards, who is also a columnist for Batten Disease Newswhich is published by parent company BioNews Inc.

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In 2007, the foundation funded its first project: an enzyme replacement therapy developed by Sandra Hoffman, MD, PhD, at the University of Texas Southwestern Medical Center. The therapy is now in the preclinical stage with biotech company Collaborations Pharmaceuticals. In 2013, the company announced that it would co-fund CLN1 and CLN2 research by Steven Gray, PhD, who was an assistant professor at the University of North Carolina at the time, and is now an associate professor at UT Southwestern. The potential treatment, TSHA-118, recently began a Phase 1/2 clinical trial in Canada.

Taylor’s Tale also focused on policy change, advocating the introduction of North Carolina House Bill 823 to form the North Carolina Advisory Council on Rare Diseases. The bill was renamed Taylor’s Law in 2016.

King realized, however, that she could do more outside of research funding. For patients who did not have access to disease-modifying therapy, relying on the best care from the clinic was all they had. An important resource for families and physicians was missing.

“If you can’t participate in creating a pathway so that they can actually be diagnosed to access this treatment, why are you doing this?” asked the king. “So we realized along the way, the importance of being involved as defenders. And we also realized there were many children, including Taylor, who would never benefit from this potential treatment, but they still deserve the best possible clinical care.

In addition to giving physicians unfamiliar with Batten disease guidance for a care plan and patients a better understanding of the disease, these clinical guidelines can also help inform the development of clinical trials, King said.

King and Edwards said Taylor would be proud of the progress they’ve made since her death in 2018. The mother-daughter duo are carrying on their legacy of determination in striving for the highest quality of life.

Edwards calls this “quiet courage”.

“Taylor did everything and didn’t hesitate to think of her illness as an obstacle or an excuse not to try,” Edwards said. “Taylor’s goal was to live a life not defined by Batten.”

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Every time Edwards takes part in a race, she feels like Taylor is with her. Their lives have been inextricably linked as sisters, but also throughout life. While Edwards had her first child on the seventh floor of the hospital, Taylor was being moved to the palliative (end-of-life) inpatient unit on the second floor.

As the name suggests, remembering Taylor is central to the organization’s mission and publishing items like clinical care guidelines.

“I think every day that we go on, we tell his story. It’s not about us. It’s really about Taylor and all the kids and families who follow her,” King said.