North Carolina Rare Disease Coalition

By Judy Mayer

As we support the development of treatments for Batten disease, Taylor’s Tale continues to advocate on behalf of the rare disease community. We believe that a cure for one is a cure for all.

So when the opportunity to engage the rare disease community in important work that will help patients around the globe presented itself, Taylor’s Tale didn’t hesitate to sign on.

Taylor’s Tale Co-Founder and Vice President Laura King Edwards shares her advice as a rare disease patient advocate during the North Carolina Rare Disease Patient Information Portal focus group held in Charlotte on May 15.

Taylor’s Tale Hosts Focus Group

The first tangible result of this commitment was sponsorship of a focus group with 13 rare disease patients and advocates on May 15.

The focus group, which included Taylor’s Tale President Sharon King and Vice President Laura King Edwards, addressed a major initiative called the North Carolina Rare Disease Patient Information Portal, a web-based, open-access portal.

The portal offers open and easy access to rare disease patients and their families and caregivers as they seek information and identify valuable resources. As a one-stop solution, the portal reduces the time-consuming need to monitor the avalanche of data shared across the internet and via clinical literature.

The portal also addresses the human need for people to connect as they engage in the constantly changing journey of rare disease treatment. The goal is to replace isolation with a supportive community of people who understand the challenges and needs of rare disease patients and their families.

The portal is a component of the North Carolina Rare Disease InfoHub, a major project led by a collaboration of the state’s universities to accelerate innovation in rare disease treatments and to improve care for rare disease patients. The InfoHub leverages the power of advanced computing and big data analytics to search, organize and present medical and treatment resources via its Patient Information Portal.

InfoHub Seeks Rare Disease Patients’ Feedback

The InfoHub’s Patient Information Portal is scheduled for its official launch in late 2018. During the development phase, the rare disease community is actively engaged to ensure the portal is easy to navigate and provides quality information that meets their needs.

Rare disease patients and their families and caregivers are encouraged to share how the site could be more responsive and useful. Visitors are encouraged to access the portal at https://rarediseases.oscar.ncsu.edu to leave comments in feedback boxes.

For more information about the Patient Information Portal focus groups, please email ncrarediseasecoalition@gmail.com.

Taylor’s Tale President Leads Focus on Patient Needs

The North Carolina Rare Disease Coalition is coordinating a series of Patient Information Portal focus groups across North Carolina. As chair of the Coalition and president of Taylor’s Tale, Sharon King assumed a leadership role in ensuring that the InfoHub project always keeps the patient front and center in its work.

Taylor’s Tale President Sharon King (center) listens during a North Carolina Patient Information Portal focus group in Charlotte.

“The patients are the real experts in their diseases,” King said. “They live with disorders every day that healthcare professionals may only see once in their careers. It is vitally important that the portal connects people and provides efficient access to resources that will provide answers to inquiries regarding the diagnosis, treatment and quality of life of rare disease patients.

“We are conducting focus groups in rural and urban areas and inviting people with a variety of backgrounds and diseases,” King said. “Rare diseases know no geographic, ethnic, racial, gender or income barriers. They are equal-opportunity destroyers of lives. As patient advocates in partnership with academia, industry and government, we are making real progress in providing real treatments for real people.”

By Judy Mayer

By Sharon King

October 15, 2014

Batten disease: a fatal, inherited disorder of the nervous system that typically begins in childhood. Over time, affected children suffer mental impairment, worsening seizures and progressive loss of sight and motor skills. Eventually, children with Batten disease become blind, bedridden and demented. Batten disease has no treatment or cure and is universally fatal.

Imagine a doctor delivering the news that your child has Batten disease. Almost unimaginable, even for me, and I’ve lived it. In a very few minutes, your life is forever changed. Few of us think about rare disease. After all, rare means “not too many,” and there is comfort in believing rare disease “will never happen to me.”

The statistics don’t support that belief. Rare diseases are defined as those affecting fewer than 200,000 people in the United States. Since there are more than 7,000 rare diseases affecting more than 25 million Americans and their families, they are a significant healthcare concern. Rare disease is everywhere, and the problems of rare disease belong to all of us.

During a Rare Disease Congressional Caucus briefing in Washington, DC last February, Dr. Marshall Summar, Chief of the Division of Genetics and Metabolism and the Margaret O’Malley Chair of Molecular Genetics at Children’s National Hospital, shared that 25% of children admitted to the hospital have a genetic condition (e.g. rare disease), representing 45% of all hospital bills. Rare diseases represent a disproportionate share of healthcare spending; again, that affects all of us.

Taylor’s Tale has learned a lot as a Batten warrior. We’ve supported groundbreaking research, raised awareness and supported legislation that has the potential to move the needle toward greater innovation and a quicker path from scientific discovery to real treatments for patients. We understand the power of unifying our voice with those of other rare disease groups. While each rare disease has its own complexities, many also share similarities, and we can learn from one another.

We have a big vision including the development of a North Carolina Rare Disease Coalition in the coming year. But Taylor’s story and the effort to find a treatment for children like her will always be front and center. Taylor’s Tale enthusiastically embraces the opportunity to serve as a connection builder and an advocate for all rare diseases, but we have a message for Batten disease:

Watch out Batten. We’re still on the warpath, and we’re out to get you!

In hope,

Sharon King

Co-Founder, Taylor’s Tale

Taylor’s Mom

Tag: North Carolina Rare Disease Coalition

Taylor’s Tale Engages Rare Disease Community in New Patient Information Portal

Rare is Everywhere