Newborn Screening Gets a Boost in North Carolina

Published: June 9, 2018 ~ 0

By Nicole McEwen

On May 30, North Carolina leaders announced the expansion of the state’s newborn screening panel to include three rare diseases — Pompe disease, Mucopolysaccharidosis type 1 (MPS 1) and X-linked Adrenoleukodystropy (X-ALD). These same leaders are also committed to improving the process for adding conditions to the program in the future. Because of my role with Taylor’s Tale, I had an opportunity to attend the press conference in Raleigh. Here’s my take on the news as well as the importance of newborn screening programs.

Why is newborn screening important?

Soon after birth, babies are screened for different diseases to ensure that, if needed, they receive early treatment and the best possible quality of life. This, in turn, saves families from much heartache and potentially a huge financial burden.

I graduated from the University of Georgia in May after spending my senior year as a Child Life Specialist intern at the Children’s Hospital of Georgia, where I worked with children and families in a hospital setting. This means I saw, firsthand, the difference this bill will make for babies born in North Carolina.

Imagine a family having to sacrifice their first child to a rare disease in order to understand what’s wrong so that their future children can be tested and treated for that same disease. It sounds awful, but it’s a painful reality: many parents have multiple children born with a particular rare disease, and they are forced to watch one (or sometimes more than one) son or daughter suffer while younger children receive treatment and live a longer, healthier life.

Imagine being a parent in that situation and knowing the medical community could have done something to help your child, if your child had only been screened for the disease early. To boot, the financial burden of your oldest child’s condition could become long and protracted if they need more advanced treatment as their condition declines and the damage becomes irreversible.

Imagine knowing that all of it could have been easily avoided and changed.

That’s where newborn screening comes into play.

With this move, fewer children and families in North Carolina will suffer from lack of early and appropriate treatment. Families will have more time to get to know each other, do meaningful activities together and watch their children grow, so they can make meaningful contributions to a society that allowed them to live.

Everyone stands to benefit here: the child, the family, our healthcare system and our society.

How did the press conference in North Carolina unfold?

We arrived at the state capitol and headed into a room inside the legislative building, where white coats packed into one side of the room and patients and families filled the other. The middle of the room was reserved for press. I stood with Sharon King, Taylor’s Tale president and Taylor’s mother, and Judy Mayer, a Taylor’s Tale board member, to watch the morning unfold.

Legislators spoke about newborn screening and their excitement for the addition of these three conditions. This is a happy day, they said — for children, for families and for the state of North Carolina. It doesn’t just affect our state, they said. It will set a new precedent for the way we treat newborns and hopefully create a ripple effect across other states. Another mother of a child with a rare disease also came to the podium to share her experience. While her child received treatment, this mother stressed that it would have been much better if it had happened even a few months earlier.

Despite the excitement around the news, it isn’t without detractors. For example, some members of the media questioned the cost of adding conditions to the newborn screening panel. Wouldn’t this raise the price tag of newborn screening for mothers? Wouldn’t additional screenings require more expensive equipment? What would taxpayers think? How many babies do some of these diseases really affect? What are the numbers? Is it worth it?

This is where I believe it’s important to focus on the big picture. After all, many rare diseases are chronic illnesses that cost a lot of money to treat over the long haul in addition to causing a great deal of pain and suffering for patients and families. Catching these diseases early, so that patients can receive meaningful treatment, is far less costly than dealing with the diseases later. Remember, too, that rare diseases as a whole are far from rare. In fact, in North Carolina alone there are approximately one million rare disease patients.

I look forward to watching this crucial work move forward and feel lucky to have witnessed such a big day. However, I know there we still have a lot to do in order to help the public comprehend and see the big picture. The press conference was a crash course in rare disease advocacy, and more than ever, I understand why we can’t ever give up the fight. I look forward to sharing more from my experiences this summer and hope you’ll join Taylor’s Tale, and me, for the ride.

How Taylor Inspired Me to Become a Child Life Specialist

Published: June 2, 2018 ~ 0

By Nicole McEwen

I’m a recent graduate of the University of Georgia, and I’m excited to intern for Taylor’s Tale this summer. But why am I working for this incredible organization?

For starters, I’ve known Taylor’s incredible family for about five years (I know, I’m quite lucky!). We met through a Charlotte non-profit organization called Playing for Others (PFO). PFO encourages teens to ask themselves two questions: “Who am I, and how will I give of that?” As a member, I explored and developed my own leadership skills through the arts.

But the buddy program, where teens get paired with a person with a disability, was my favorite part of PFO. During my senior year of high school, I had the honor and pleasure of being paired with Taylor.

Throughout that year, I spent time with Taylor and her immediate family. I was amazed that each of them was so strong, driven and passionate. I had never met a group so willing to be courageous and so unwilling to take “no” for an answer. And, I knew I wanted to keep them in my life well after the buddy program ended.

When I was researching colleges, Mrs. King asked me what I wanted to study. I had always liked working with kids, and my three years in PFO showed me that I enjoyed working with people with disabilities as well. However, I didn’t like working with big groups of kids at the same time (ruling out teaching), and I didn’t want to be in charge of kids’ lives (ruling out careers in the medical profession). Mrs. King mentioned that their family worked closely with people called Child Life Specialists whenever Taylor was hospitalized. I had never heard of a Child Life Specialist, so I went home and pulled out my computer to put a Google on it.

Child Life has many parts, and the job changes by day and even depending on the specific floor where you work. But in general, Child Life Specialists (CLS) take care of the psychosocial needs of children and their families during a stressful time. They:

Create a sense of normalcy by providing familiar things to do to make the setting less stressful
Provide support during medical procedures
Guide therapeutic interventions to help children and families cope
Provide education in a developmentally appropriate way to help give patients and families control over their situation

Child Life? It seemed like everything I’d ever wanted. It would allow me to support children of all ability levels and their families in difficult situations and teach them about their disease or procedure. Most of all, it would allow me to play with kids and have fun doing it.

I chose the University of Georgia because they offer a program that sends four students to the Children’s Hospital of Georgia in Augusta during their senior year to intern as Child Life Specialists. The program gives these four students about three times the amount of clinical hours necessary for certification.

Luckily, I was accepted into the program and completed it this year, graduating in May. Along the way, I got to practice Child Life on six different hospital units. I saw and learned a lot about how hospitalization and different illnesses or diseases affect a child and their family system.

I also decided to apply for an online master’s degree in nonprofit management. I have always loved the non-profit mission and figured that if I ever get tired of hospital life, working in the non-profit setting would be a good way to continue working with my target population. Plus, some of the skills I’ll gain, such as management and grant writing, could help me in the Child Life world. I will start the online program through Northeastern University this fall.

In August, I will sit for my Child Life certification exam, after which I can begin working full-time as a Child Life Specialist. That means I’ll spend much of my summer studying.

But I wanted to do something meaningful with the rest of my time at home in Charlotte, and I’m so glad Taylor’s Tale invited me to become part of the team. This internship will be a great way for me to:

Give back to Taylor’s family for putting me on my life path that I love so much
Expand my nonprofit skills and knowledge before starting my master’s degree work
Continue to advocate for children and families, even if I’m not at their hospital bedside

The official start of summer is still weeks away, yet I’ve already jumped into many different pieces of Taylor’s Tale and the rare disease advocacy world. I look forward to being part of this amazing organization and population of humans. This may be my first post, but it certainly won’t be my last, and I hope you enjoy my perspective on the things I experience this summer.

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

Published: May 16, 2018 ~ 0

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.”

Rare Disease Week on Capitol Hill

Published: March 5, 2017 ~ 0

By Laura King Edwards

I spent Rare Disease Week in Washington, getting to know other rare disease advocates while learning about legislative and regulatory issues and advocating for one in 10 Americans on Capitol Hill.

I had a great two days in our nation’s capital. But to really illustrate the meaning of those 48 hours, I have to start with the end of the story.

After landing at Reagan International Airport late Wednesday afternoon, Abeona Therapeutics Vice President of Patient Advocacy Michelle Berg waited for me at a bustling Starbucks.

Our meeting almost didn’t happen, but it was easily one of the most important on my trip to Washington. That’s because Abeona Therapeutics added an AAV-based CLN1 program to its clinical pipeline in September 2016. Those fancy acronyms simply mean Abeona took on the incredible work of my friend, Dr. Steve Gray, to make his novel gene therapy treatment available to patients with infantile Batten disease.

On Rare Disease Day four years ago, I introduced Steve Gray to a crowd of Taylor’s Tale supporters at a Charlotte hotel while my mom walked the halls on Capitol Hill. That morning, I told our friends Steve’s work would lead to a clinical trial for kids like Taylor in the not-too-distant future. In my heart I knew we were starting from square one, going to war against a monster disease on a shoestring budget.

But I hadn’t forgotten the 2011 night when Mom called me on the road driving home from a Batten disease workshop in Bethesda, Maryland. She couldn’t stop talking about meeting the junior investigator from the UNC lab just two hours from our home in Charlotte. I also hadn’t forgotten the 2012 day when Mom pulled together a group of funders for Steve’s work at a conference in London.

Even then, I knew deep down that we wouldn’t save my sister’s life. But I still wasn’t willing to accept an incurable disease without a fight. And I believed my own words at that Rare Disease Day breakfast, when I told a roomful of people we’d achieve our goal.

Abeona Therapeutics is committed to taking Steve’s revolutionary gene therapy treatment to patients who need it, but our work is far from over. At Taylor’s Tale, we understand that patient advocacy is more important than ever. And that’s where my time on the Hill – along with about 400 other advocates from all over the nation – was so crucial.

A couple of years ago, our friends at the Beyond Batten Disease Foundation produced a great video about the so-called Valley of Death that prevents many scientific discoveries from translating to meaningful treatments and cures for real people. Consider:

Each year, approximately $1 billion is invested into medical research in the United States.
That investment only produces about 20 to 25 FDA-approved medicines and therapies.

The truth is that most labs don’t have the resources to shepherd their work through the drug development pipeline – and regulatory roadblocks make the journey even more difficult. Just imagine: scientists like Steve Gray and others across the country develop potentially lifesaving treatments in their labs. They take meaningful treatments and cures to mice, sheep and pigs. They publish papers and earn recognition for themselves and their institutions. But often, their work doesn’t save a single human being. And people like Taylor continue to suffer and die.

That’s why, after an all-day legislative training session in Washington last week, I celebrated my birthday by advocating for the 30 million Americans with a rare disease in the halls of Congress. I attended meetings with Representative Joe Wilson, Senator Tim Scott and the office of Senator Lindsey Graham. I talked about the benefits of the OPEN ACT, bipartisan legislation that could double the number of rare disease treatments and should have been included in 2016’s landmark 21st Century Cures Act. And as I walked the halls and told our story, I couldn’t help but think that, in a time when our country is divided on so many levels, rare disease is one issue on which we should all be able to agree.

Taylor’s Tale is a story about love and hope. It’s a story about turning hope into reality. Sometimes I get dizzy thinking about all that has happened since my family and I shared our story publicly for the first time on a cold night 10 years ago. And it’s been hard watching my sister, who used to sing and dance, grow too sick to speak or walk.

But I can see the future, and it’s shining brightly.

If you have questions about Rare Disease Week, legislation relevant to rare disease patients or our work on their behalf, feel free to contact me.

Thanks to our friends at the EveryLife Foundation for Rare Diseases, which organizes Rare Disease Week on Capitol Hill and granted Taylor’s Tale a travel stipend that made it easier for me to attend and speak on behalf of millions of Americans in Washington.

Global Genes Summit Unites Rare Disease Voices

Published: September 28, 2016 ~ 0

By Judy Mayer

You might assume that a summit dedicated to rare disease would be a negative experience, perhaps even bordering on tragic. You would be wrong.

The Global Genes RARE Patient Advocacy Summit held in Huntington Beach, California, on September 24-25 illustrates the positive energy that defines the rare disease community. Some people showed up in wheelchairs, while others had masks across their mouths and noses. One teenage girl brought her service dog, and one woman brought her oxygen tank.

While rare diseases create a seemingly endless variety of challenges, the summit participants all share the determination to help others and to leave no stone unturned to improve the lives of rare disease patients. continue reading →

Battling Rare Disease Every Day of the Year

Published: February 29, 2016 ~ 0

By Laura King Edwards

Today is Rare Disease Day, a worldwide movement to raise awareness about rare diseases and their impact on patients’ lives. The effort targets the general public but also decision-makers such as policy makers and health professionals and biotech industry leaders.

I worked on the marketing communications team for a large, integrated health system for eight years. Early in my career, my mentor taught me not to focus too much energy on health awareness months, weeks and days at the expense of more strategic efforts. She said only a few of these movements really resonate with the general public, like Wear Red Day (always the first Friday in February), Heart Month, Stroke Month and Breast Cancer Awareness Month. continue reading →

Rare Disease is Bipartisan

Published: July 28, 2015 ~ 4

By Laura Edwards

I don’t talk much about my political views on social media or elsewhere. But rare disease is bipartisan. Rare disease traverses not only politics but also religion, race, gender, age, ethnicity and nationality. Rare disease affects us all.

Today, North Carolina House Bill 823 passed unanimously by a vote of 106-0 in the House. The bill, entitled “Establish Advisory Council on Rare Diseases,” is on its way to Governor McCrory, who now has 30 days to sign the bill into law. continue reading →

The Cost of Rare Disease

Published: March 29, 2015 ~ 0

By Laura Edwards

My family has been fighting Batten disease for many years. Once upon a time, my sister Taylor earned straight As in school and sang the words to all the songs she heard on the radio. She insisted on joining the Girls on the Run program at her school, even though she’d recently lost her vision. She ran two 5K races with her team.

Today Taylor is totally blind, unable to speak, learn or walk, suffers from seizures, and has a feeding tube. Batten disease stole my sister’s childhood. Now it’s stealing her life. Other lives, too, are being changed by Taylor’s illness – those of her family, friends and all who love and care for her.

This is the human cost of rare disease. continue reading →

Why World Rare Disease Day Matters

Published: January 28, 2015 ~ 0

By Laura Edwards

There are a million special recognition and awareness “days.” I worked in healthcare for eight years. Many of the patients and families and doctors and nurses and service line leaders I worked with throughout those eight years had a day that was special to them because it recognized not their disease or condition, but the courage and strength it takes to face the disease each day and the determination and belief in miracles it takes to fight for a better tomorrow. Even if some days are so dark you can’t see what’s coming. continue reading →