Newborn Screening Gets a Boost in North Carolina

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.

The Dying of the Light

By Laura Edwards

My grandparents used to have a beach house on Oak Island, a finger of land at the southern tip of North Carolina. Nearly every summer, we spent the Fourth of July week on the island; on the Fourth, we packed a huge picnic, piled into cars, drove across the Intracoastal Waterway and into Southport, a charming town raised where the Cape Fear River meets the Atlantic Ocean.

Before reaching the waterfront park, as if we didn’t already have enough food, we stopped at Hardee’s for a southern feast of fried chicken and biscuits and mashed potatoes and gravy and sugary sweet tea.

At the water’s edge, we spread our blankets on the short-clipped grass and stretched out to fill our bellies under a hazy blue sky while the boats drifted by. As the evening wore on, the lawn filled. My brother and I danced through the blankets and chairs clutching soft dollar bills from my Grandma Kathryn. We bought snow cones and glow-necklaces at the pier before the summer sun disappeared and the fireworks lit up the sky.

Time changes us all.

My grandparents had to sell the beach house around the time Taylor was born; it’s been many years since I last saw the Cape Fear River sky lit up by sparkling streaks of red, blue, green, purple, orange, yellow, silver and gold. My grandmother fought a brave battle against Lewy body dementia, but Lewy body dementia always wins; we said goodbye to her on Christmas Day 2012. And my sister, whose bright eyes used to drink in the world and all its beauty, lives in a world of darkness.

fourth of julyThis Fourth of July, John and I invited family and friends to our house to eat burgers and brats and watch the World Cup. Toward the end of the afternoon, my parents and Taylor appeared at the door. My sister has, thankfully, gained weight since her scary stint in the hospital. She looked pretty in her cotton dress, perfect for a summer cookout. She couldn’t eat with us.

After everyone left and the kitchen was clean, John and I piled into the back of my parents’ car and went uptown with them to find a parking lot where we could watch the fireworks shot off from the minor league baseball stadium. The home team’s pitching staff isn’t very good, and the game ran late. We sat in our folding chairs for a long while and talked while we waited for the show. It was unseasonably cool and felt nice, but I missed the salt breeze on my face and the aroma of my Papa Jerry’s bucket of fried chicken, even though I never ate it.

Finally, the fireworks began. I watched in silence next to my sister’s wheelchair. I remembered our own private fireworks show in Mom and Dad’s driveway just two years earlier. That night, Taylor sat in a golf chair and clapped each time Dad shot a Roman candle or bottle rocket into the night. As they exploded over the front yard, I called out the colors, one by one, to my blind sister.

Taylor didn’t clap for the fireworks this time. Instead, I held her hand in its soft purple brace. As the show ended, I savored the warmth of her touch, and I watched the dying of the light.

March of Madness

By Laura Edwards

I’m a North Carolina native. Most of us harbor an unwavering devotion to one of two major state universities located in the Research Triangle – the University of North Carolina at Chapel Hill (UNC) and North Carolina State University (NC State).

Laura's graduation day

I earned my degree in English from UNC. I love the school for the fabulous education I received – something no one can ever take away from me. I love it for its particular shade of blue. I love it for the bell tower that watches over South Road and the football stadium. I love it for the pink azaleas that ring the Old Well each spring. I love it for the Forest Theatre, where a group of upperclassmen blindfolded me and walked me through an honor fraternity’s initiation ceremony after dark. I love it for the basketball team (I even loved them when they went 8-20). I love it for the frozen yogurt and NY pizza on Franklin Street, the town’s main drag. I love it for my favorite spot on campus – a sidewalk between the Wilson and Undergraduate Libraries that, three seasons out of the year, is shaded by a small tree. In the fall, that tree’s leaves turn a brilliant shade of gold, and in the late afternoon, the sunlight shines down and hits those leaves, and the glow lights up the entire world. And most of all, I love it for the friends I will have for a lifetime.

I spent the second semester of my freshman year at NC State. I love the school for its wonderful people, who rolled out their Wolfpack red carpet for me in my time of greatest need. I love it for the grassy hill behind the humanities building where I ate lunch on most sunny days. I love it for the memories of tailgating with my family of NC State grads and going to Carter-Finley Stadium for football games. I love it for Mr. and Mrs. Wuf – with deepest apologies to my alma mater, they’re cooler mascots than Rameses the ram. I love it for the week I spent playing as a scrappy point guard at the late Kay Yow’s basketball day camp in the sweltering but tradition-laden Reynolds Coliseum and making memories with my late grandmother each night after the gym lights went out. I love it for the great week I spent at the school’s soccer camp with my best friends and teammates from my high school years. I love it for the men’s basketball teams of my childhood – I wanted to marry the point guard, Chris Corchiani, and idolized the cheerleaders. I love it for memories of watching those games with my dad, an alum. I love it for the creative writing class I took on its campus – my first as a college student – where I had a teacher who believed in me and helped me build the confidence I needed to hold onto my lifelong dream.

I wish my little sister, Taylor, had a chance to go to college. I’d give anything to see her in Carolina blue, Wolfpack red, or any color her heart desired. I wish she had that luxury. I realized too late that my stints on both campuses were just that – luxuries. I’ve learned the hard way – by watching my sister’s decline since she was diagnosed with infantile Batten disease nearly seven years ago – that dreams cannot always be earned.

People sometimes ask me why I continue my March of Madness. They say that I should just enjoy the time we have left.

But if I quit – if we all quit – kids like Taylor will never walk the path I walked or live the dreams I lived.

They’ll always lose.

And so I keep on playing this crazy game. Call it fear, call it courage, call it faith…call it whatever you want. But I believe.

The whistle hasn’t blown. I’ll play till I can’t play anymore.


By Laura Edwards

We had a wet winter here in Charlotte. My grass is already a rich, vibrant green, my roses are already coming to life, and the weeping willow we planted in the backyard two summers ago is already stretching its limbs toward the skies after its months-long slumber. Yesterday, we were graced with clear blue skies and temperatures in the mid-70s here in North Carolina. Not even March Madness could keep me, a self-described college basketball nut, indoors.
More than just a physical renewal, spring inspires a spiritual sort of rebirth. As I ran laps around the pond in our neighborhood yesterday morning, my sense of ‘believe’ was stronger than it has been in a long, long time.
Mom, Dad, and Taylor escaped to Charleston for a quick renewal of their own during the middle of T’s spring break this past week. On Friday, what was supposed to be an afternoon departure turned into a walk along the city’s waterfront park and famous Battery that stretched into the early evening hours. There, an 11-year-old girl going through an unimaginable illness and two parents going through an unimaginable pain found solace in the sunshine, the breeze and the sound of gentle waves as they lapped up against the walls of the Battery.