Ella and Bowen’s story: Two siblings, one diagnosis and a bright future

Ashley and Joe got the call when their daughter was three weeks old: Ella’s newborn screening results were back. She had cystic fibrosis.

“I did exactly what they tell you not to do and started Googling,” Joe says. “I read that the life expectancy was 25. I was 36 and thinking my child was not going to live to my age.”

Ashley remembers listening to the audiobook “Diary of a Dying Girl.” It’s the memoir of Mallory Smith who died in her mid-twenties, a month after receiving a lung transplant for cystic fibrosis.

That would not be Ella’s story.

Ella was born just after a game-changing advance in cystic fibrosis: The first group of medicines that target the root cause of the disease, a problem with a protein that causes thick mucus to build up in the lungs and digestive problems. These medicines work for about 90 percent of people and have transformed cystic fibrosis from a terminal disease to a manageable chronic illness.

“Now we’re telling parents that there’s no reason their child won’t become a grandparent one day. And that’s very different from conversations we were having 10, 20 years ago,” says Meghana Sathe, M.D., Pediatric Gastroenterologist, Co-director of the Claude Prestidge Cystic Fibrosis Center at Children's Health℠ and Professor at UT Southwestern.

A slew of information

Ashley and Joe learned they were carriers for cystic fibrosis – and that there was a 25% chance their child would have it – when they were pregnant with their oldest daughter, Lila. But Lila doesn’t have the disease. They didn’t think much more about it until Ella was born.

With Ella’s diagnosis came a slew of information: Cystic fibrosis causes the body to produce thick mucus and digestive fluids. These fluids can build up, leading to blockages and infections. Kids may experience lung problems like chronic cough, infections and pneumonia, and digestive problems, like difficulty gaining weight, pancreatic insufficiency and liver disease.

Ella would need breathing treatments for 20-40 minutes, twice daily to help her lungs, and medicine to help her pancreas break down food with every meal or snack.

“At first, I wondered how we were going to do this – adding all the treatments on top of being new parents,” Ashley says. “I got caught up in wanting to do everything perfectly and avoiding every germ.”

Getting to know the care team helped ease the overwhelm.

They were surrounded by experts whose entire job is to care for kids with cystic fibrosis. Ella’s care would be co-led by Dr. Sathe, who would focus on her digestive health, and lung-specialist Preeti Sharma, M.D., Co-director of the Cystic Fibrosis Program at Children’s Health and Associate Professor at UT Southwestern.

“Cystic fibrosis affects the lungs and the digestive system, so Dr. Sathe and I, along with a team of dietitians, social workers, nurses and other experts, work together to care for these kids," Dr. Sharma says. “Our team meets every week to make sure we’re addressing all of their needs, including their medical needs and how they’re doing emotionally or at school.”

Déjà vu

Ella’s daily care became part of her family’s new normal. One week before she turned 2, the game-changing medicine that treats the underlying cause of cystic fibrosis was FDA approved for children ages 2 and up.

“She’s doing great on it. Her pancreas function is almost normal,” Joe says.

Not long after, Ashley and Joe learned they were pregnant with their third child. They did an early screening and monitored Ashley’s pregnancy closely with a specialized doctor. All tests suggested a very low risk of cystic fibrosis. But three weeks after Bowen was born, they got a call.

“It felt like Déjà vu to hear the diagnosis a second time,” Ashley says.

The reality of all treatments – times two – began to sink in.

“That initial phone call was rough emotionally,” Joe says. “We took a deep breath. Then looked at each other and said ‘Hey, we know what to do.’”

Once again, they leaned on their care team – who they called right away and said to bring Bowen with them to Ella’s appointment the very next day.

“The team validated everything I felt and didn’t make me feel silly for crying,” Ashley says. “They knew this was an especially tough diagnosis because the early tests said it was unlikely Bowen would have it.”

The team that’s been with them since the beginning mapped out a care plan for Bowen.

“They’ve been super accessible when we have questions, they always listen,” Ashley says. “And now they just feel like friends. Everyone on the team is amazing and Dr. Sathe and Dr. Sharma are the real MVPs.”

Good days and gratitude

These days, the family has a morning routine: The girls wake up and eat breakfast. Ella picks a show to watch during her breathing treatment (usually SpongeBob or Bluey). Big sister Lila often comes to play with her. If there’s time, Ashley will start Bowen’s breathing treatment too. But if they’re running behind, Ella can use the portable nebulizer on the way to school and Bowen does his breathing treatment after.

For their family, that means playing in the backyard and family karaoke nights in the living room. Ella is a natural leader who goes from putting on makeup with her big sister to splashing in puddles outside. Bowen is an easygoing 9-month-old, who smiles more than cries.

Ashley and Joe are also involved in their local chapter of the Cystic Fibrosis Foundation. They've also participated in research at Children's Health because they know research has changed the odds for kids with cystic fibrosis. They share a few tips for other families going through a similar diagnosis.

“Feel all of your feelings. Know that they are valid and it's OK to grieve,” Ashley says. “Rely on each other and your support system. We have good days and bad days, but they’re mostly good days. And we’re so grateful.”

Learn more

Children’s Health is home to a team of experts who work together to care for kids with cystic fibrosis. We support every aspect of their health – from breathing and digestive issues to mental health – while also helping them learn to manage their own care as they grow up. Learn more.