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.

Sharon King at press conference

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.

Making Fruit Punch Out of Berries

Published: March 2, 2014  ~   0
By Laura Edwards

World Rare Disease Day is an annual awareness initiative founded by the European organization EURORDIS and coordinated by the National Organization for Rare Disorders, Taylor’s Tale and other national and patient organizations in the U.S. and worldwide. Since its founding in 2008, it’s resulted in over 1,000 events and a great deal of media coverage.

Taylor’s Tale, the non-profit organization founded in honor of my younger sister, Taylor, held an event to recognize Rare Disease Day on Friday for the second straight year. We asked members of the rare disease community and the public to gather in Charlotte’s Freedom Park for a candlelight vigil to honor the 350 million people fighting a rare disease, their caregivers and the experts working to find life-saving treatments.

Judy Mayer, my friend and fellow soldier in the fight against rare disease, worked around the clock to pull off Charlotte’s official event in recognition of Rare Disease Day while my mom, Sharon King, prepared to join about 150 other rare disease advocates in Washington for a week of sessions and meetings with members of Congress on Capitol Hill.

Two days before our candlelight vigil, Judy wrote to inform my mom and me that when she opened the box from the glow stick company, she found 150 multicolored glow sticks, even though she ordered white glow sticks, and the box was clearly marked “white.” Since we didn’t have enough time to place a new order, Judy wrote the mishap into our script. So as the sun dipped behind the trees on Friday evening, our emcee, Kathi Knier, asked the crowd on the lawn to light their glow sticks, which “shone in many colors to remind us of the more than 7,000 rare diseases and disorders that have been identified to date.” The colorful glow sticks lit our small corner of the city park, symbolizing the millions who, like Taylor, suffer from one of 7,000 rare diseases, many of which have NO approved treatment.

Laura and Bryant Graeber

Bryant Graeber, one of Charlotte’s many rare disease heroes, shared a moment with me before we got started.

Soft notes from a guitar drifted across the stage, and those glow sticks bobbed on the lawn, like multicolored fireflies on a summer night from another lifetime. And as I sat in my chair across the water from the small crowd that had gathered to honor heroes like my sister and Bryant Graeber, who has MPS1 and whose optimism shines a light on the world brighter than the brightest candle, I thought that those glow sticks looked strangely beautiful in the cold February night.

While the glow sticks danced in the twilight and the music filled my ears, I thanked God for people like my mom, a true champion for the rare disease community, who at that very moment was making her way back from a week in our nation’s capital during which she did what she was born to do: change the world. I thanked God for people like Judy, who, in the 11th hour, did what rare disease advocates do best: she made lemonade out of lemons – or, as I said in my reply to her email about the goofed glow sticks order – she made fruit punch out of berries. And in the war against rare disease, that’s the key. There’s nothing you can do about what’s already in your genes, or in my case, the genes of someone you love. In most cases, once rare disease crashes into your life, you have to stay in the ring and fight it as best you can. But you don’t have to take those punches lying down. You can hit back. And if you land enough punches, and you believe you can win, someday, you will.

Rare disease affects 30 million Americans (or one in 10 people) and 350 million people worldwide. Are you personally affected by rare disease, or do you know someone who is?