A father helps his daughter through an incurable illness, Diamond-Blackfan anemia, and together they raise global awareness for her disease.
“She’s something else.”
It’s a phrase any doting father might use to describe his daughter, but Scott Nethery has even more reason to be proud of his little girl, Audrey. For most of her eight years, she has lived with the rare, life-threatening disorder, Diamond-Blackfan anemia (DBA).
In DBA, the bone marrow – the spongy tissue in the center of bones – doesn’t produce enough red blood cells. These cells normally carry oxygen to the body’s tissues. Without red blood cells, kids like Audrey tire easily, and don’t grow as quickly as they should.
While undergoing one blood transfusion after another to restore the red blood cells she needs to survive, Audrey took her story public. She starred in a series of online videos that have since gone viral, racking up millions of views. Almost single-handedly, this pint-sized crusader has introduced the world to a disease that had previously lived in the shadows of medicine.
Something is wrong
When Audrey was born on October 20, 2008, her parents, Scott Nethery and Julie Haise, were thrilled. Yet quickly, they realized something was wrong with their little girl. Doctors discovered that Audrey had a hole in her heart and a cleft palate. They also noticed that her blood level was abnormally low, although they attributed it to prematurity. She’d been born four weeks early.
“They gave her a blood transfusion at the hospital,” Scott Nethery says. “They had no diagnosis at that point.” Doctors sent the family home.
DBA is so rare – affecting only 30 children each year in the U.S. and Canada combined – that it often isn’t on doctors’ radar. Because there’s no test for the condition, doctors usually don’t consider DBA until they’ve ruled out a whole list of other disorders that can affect blood counts. That’s what happened to Audrey. Only after doctors had tested her for several other conditions did they look for the gene mutations responsible for DBA.
Once Scott and Julie Nethery learned Audrey has DBA, they immediately worried about her future. “We didn’t know what that meant. We had to do a lot of research. Of course you wonder, ‘Is it life threatening?’ ‘What’s the life expectancy?’ Scott says. “You don’t want your child to have to go through anything like that.”
Audrey underwent surgeries to correct the hole in her heart and fix her cleft palate. Then she started on a series of blood transfusions – one of the main treatments for DBA. She needs them every 3 to 5 weeks to maintain levels of hemoglobin – the protein in her red blood cells that transports oxygen throughout her body.
Though these treatments have helped Audrey stay on top of her disease, her father says she has good days and bad days. “It’s kind of like a rollercoaster,” he says. “Sometimes everything is great, and sometimes it’s not. But even when it’s great, you still have that feeling in the back of your mind – ‘What’s going to happen next? Is it going to be ok?’”
A star is born
Whenever Audrey has a difficult day in treatment, she turns to music. “It’s very therapeutic for her, and she loves it,” her dad says. Scott and Julie realized early on that their daughter has a special affinity for music. Before she’d fully learned to talk, Audrey would sing along to Beatles CDs. “It’s been a big part of her from the beginning.”
Audrey doesn’t just sing – she dances, too. When she isn’t bopping along to a Zumba class near her home in Louisville, Ky., she’s performing karaoke renditions of her favorite pop songs at home. Like many proud parents, Scott and Julie started posting Audrey’s karaoke videos on Facebook. They thought a few friends and family members might click on the videos, and be inspired to make a donation to a local DBA fundraiser the family sponsors.
To their surprise, the videos took off. Their Facebook page, Audrey’s DBA Photo Booth, now has nearly 1.5 million followers. Each of her YouTube videos has amassed millions of views. Wherever the family goes, fans approach Audrey. When they went to Disney World, the princesses would say, “Oh, it’s Audrey! She’s here!” “They just recognized her,” Scott says. “For Audrey to be like, ‘Ariel knows me.’ It was just really, really cool.”
“It’s not just that she’s being recognized, but a lot of them understand she’s got a life threatening illness that she’s battling,” Scott adds. “They are very sincere in wanting to know how she is and how things are going, and that makes me feel good.”
Through her millions of fans, Audrey has turned DBA from an unknown illness into a household name. “No one knew what DBA was, practically, before Audrey’s story,” Scott says. “Audrey has raised just a phenomenal amount of awareness for this illness.”
And in the world of incurable diseases, awareness equals money. “In order to research, to find better treatments and a cure for this illness, we have to raise money,” Scott says. “She’s raised a lot of money as well that has gone to the DBA Foundation to fund research.”
Scott and his wife have been amazed at how well their daughter has adjusted to her disease – and to the painful transfusions that come with it. “Audrey handles everything like a champ,” Scott says. “She inspires my wife and me.”
July 17, 2017
Christopher Nystuen, MD, MBA