Maternal instinct leads to life-saving diagnoses for baby with Down syndrome

Ever since 3-year-old Emma Barreda was an infant, her mother, Tasha Barreda, had noticed she breathed more loudly than other babies. In her first year of life, Emma would seem sick when doctors said she wasn’t— they chalked her symptoms up to Emma’s Down syndrome— and day care employees would refuse the baby’s entry for fear of sickening other children.

But during a routine hearing exam when Emma was 5 months old, the San Antonio, Texas, mom asked Emma’s ear, nose and throat (ENT) doctor to conduct a bronchoscopy to look at her throat and airway.

“’Maybe you’ll see something; maybe you’ll see why she’s so noisy,’” Tasha Barreda, 41, recalled telling the ENT to “I joked and said, ‘I have plenty of insurance.’”

What the doctor saw ended up saving Emma’s life: He diagnosed her with complete tracheal rings, and, Barreda later learned, she was suffocating. Normal tracheas have rings of supportive cartilage with a muscular gap, meaning they are incomplete and function well. But individuals with complete tracheal rings do not have those gaps, causing the trachea to be more narrow, thereby restricting breathing.

The ENT hadn’t seen the condition in nearly 20 years, Barreda recalled, and he told her Emma would likely outgrow it, which is true in some cases. But Barreda decided to do more research on her own and, through a chain of letters to doctors across the world, connected with specialist Dr. Mike Rutter, a professor of pediatric otolaryngology at Cincinnati Children’s Hospital. Rutter would eventually confirm the complete tracheal rings diagnosis and perform a life-saving operation on Emma to address the condition.

As Emma struggles with ongoing lung problems, since the February 2014 surgery, she has battled another rare airway condition, laryngeal cleft, which Rutter diagnosed, and is recovering after being intubated for nearly four months in Texas from a separate life-threatening infection.

“[Emma] is far better than she used to be,” said Rutter, who believes other parents can take a lesson from Tasha in advocating for their children’s health. “If you think there’s something going on that is being missed, sometimes you’re right … and it’s worth finding someone or someplace with more expertise who may be able to be helpful.”

“A motherly instinct”

Barreda, a single mother of three who works full time in sales for a steel manufacturing company, initially trusted doctors when they repeatedly said her youngest daughter’s breathing problems were simply due to Down syndrome. After all, difficulty breathing is just one of numerous health complications children with the condition face. Others include sleep apnea, obesity, heart defects and infectious diseases due to immune system abnormalities, according to the Mayo Clinic. Down syndrome, which most often occurs due to an extra chromosome and in one in 700 babies in the United States, also causes lifelong intellectual disability and developmental delays.

“A motherly instinct” compelled Barreda to ask the ENT to take another look at Emma, Barreda said.

After Emma was diagnosed with complete tracheal rings, Barreda said a coworker connected her to the director of the National Association for Down Syndrome, which referred her to a doctor in Spain, who referred her to another doctor in New Orleans. Several similar letters later, in December 2013, she got a call from Rutter, whom she had emailed.

“It was Christmas. I was standing in Toys R Us. I thought I won the lottery,” said Barreda, who began crying tears of joy when she received Rutter’s call.

Upon arriving in Cincinnati about a month later, Rutter performed a bronchoscopy and observed that while Emma’s body was growing, her tracheal ring was not, and she was running out of air. He recommended his team operate on Emma immediately, Barreda recalled. Rutter also diagnosed her with a laryngeal cleft, another rare condition that occurs with complete tracheal rings in one in 50 affected children.

Rutter said a small number of patients with complete tracheal rings grow out of the condition, but most children, like Emma, need an operation called a slide tracheoplasty. The procedure involves opening the chest and using a cardiac bypass machine while doctors repair the trachea.

The six-hour operation was uneventful, Rutter said, but Emma’s lungs ended up collapsing afterward. The operative site was unaffected, but afterward her larynx responded negatively to intubation and her vocal cords eventually swelled.

When Emma was discharged from the hospital in April, she did well until she started getting sick again in September. She was admitted to the hospital increasingly for lung problems like bronchitis and pneumonia, Barreda said. Doctors in San Antonio prescribed steroids, but Barreda thought she’d call Rutter again, as she suspected the laryngeal cleft may have had something to do with Emma’s ongoing health problems.

A laryngeal cleft involves an abnormal opening between the larynx and esophagus, increasing the risk of aspirating, meaning breathing food and liquid into the lungs.

More on this...

Barreda scheduled the laryngeal cleft surgery for Feb. 8, 2016, Emma’s third birthday, but her daughter got sicker before that date arrived.

She went into the hospital with a life-threatening respiratory syncytial virus (RSV) infection on Jan. 19, 2016 and didn’t leave until the following April.

“When she walks out, I leave”

Every day, even when Emma was intubated, Barreda stayed by her bedside, setting up an office with her laptop, a printer and a desk in Emma’s hospital room at Methodist Children’s Hospital in San Antonio.

Emma’s lungs filled with fluid, which needed to be drained, and she received four blood transfusions during her stay, Barreda said.

Although her little girl was bloated and unrecognizable, Barreda never gave up on Emma.

“My mentality was ‘When she walks out, I leave,’” Barreda said.

As doctors and nurses tended to Emma, Barreda asked questions and educated herself about every aspect of Emma’s condition and progress. She studied her charts, made spreadsheets, and knew what each piece of equipment and its readings signaled, and corrected doctors when they made a suggestion with which Barreda disagreed.

“That was my way of coping,” she said. “I felt like I had to help her in some way, and I didn’t know how to help her, but if I memorized everything the doc said, maybe I could.”

On March 1, 2016, while she was still intubated, Emma was transferred back to Cincinnati Children’s and was extubated the following month.

When Emma regained some of her strength, doctors repaired her laryngeal cleft in June 2016.

Today, Emma must be isolated from other children to protect her weakened immune system. The toddler also still struggles with effects from her respiratory ailments and uses a breathing tube, but Rutter has high hopes for her.

“I hope she will end up like any other girl with Down syndrome,” said Rutter, who plans to further investigate Emma’s immune and lung function. “The big problems are behind her.”

To fund Emma’s medical bills, Barreda said she downgraded her car, sold her townhouse and has yard sales.

“I walk around in torn shoes, but my kids don’t— it’s become about them and about getting Emma to that point where she can survive, at whatever [cost],” Barreda said.

She credits her friends, mother and boss to offering her support as she tends to Emma, and said she hopes other parents learn from her family’s story.

“I think if she didn’t have Down syndrome, [her doctors] would’ve said, ‘This isn’t normal, let’s run a test, there’s something wrong with her.’ That’s what I’m trying to get across to people: Let’s look beyond a person’s diagnosis. If your child is sick and you think you’re not getting help, reach out to other locations … keep knocking; it still works. Pen and paper still works.”

To learn more about Emma’s story, visit the family’s GoFundMe campaign page.