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Breakthrough treatment brings hope to family of Hilo girl with rare disease

  • HOLLYN JOHNSON/Tribune-Herald Wendy, center, and Jamie Irie, right, smile with their daughter, Nawai, 3, and her medical team Jan. 12 at Hilo Medical Center.
  • HOLLYN JOHNSON/Tribune-Herald Wendy and Jamie Irie smile with their daughter, Nawai, 3, Jan. 12 at Hilo Medical Center.

Preschooler Nawai Irie loves art, watching cartoons, princess toys and learning new things. She’s a typical 3-year-old: opinionated, joyous, intrigued when new people enter the room and uncertain until she assesses them.

Unlike other girls her age, though, Nawai already has outlived her life expectancy.

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She was diagnosed at about 4 months old with spinal muscular atrophy, a rare degenerative ailment that can make it progressively harder to breathe, move and vocalize.

The disease is caused by a mutation in chromosome 5 that blocks a protein responsible for motor-neuron health. As a result, neurons don’t trigger muscle movement like they should and, without normal movement, muscles weaken from lack of use.

When her parents, Wendy and Jamie Irie of Hawaiian Paradise Park, were given Nawai’s diagnosis, her life expectancy was age 2.

But in December 2016, the first drug ever to treat SMA was approved by the Food and Drug Administration.

Hilo pediatrician Dr. Darrett Choy spent months arranging for Nawai to be treated locally to help the family avoid the hardships of traveling to Honolulu or the mainland for treatment. Nawai cannot fly on commercial airlines because of her condition.

The complex but relatively short treatment requires a spinal tap to withdraw spinal fluid, which is then re-injected with the drug Spinraza.

Although the procedure itself is relatively simple, it requires precision, prep, recovery time and a large team of medical specialists on hand in case of complications.

That’s what led to a grand collaboration of about 20 people, including staff from Choy’s private pediatrics practice and Hilo Medical Center.

Traveling pediatric specialists in hematology and pulmonology joined Choy and respiratory therapists, medical coders, anesthesiologists, medical records staff, pharmacists, nurses, post-anesthesia personnel, ER staff on standby, admitting clerks, the drug manufacturer, the business office, lab technicians, short-stay personnel and surgery staff.

Nawai has had four of the treatments so far and the same team will be needed each time she is given the drug, which is administered about twice a month.

Team members gathered Jan. 12 to celebrate the success of the treatments, marvel at Nawai’s progress and interact with their patient in a setting without injections. It was a party in Nawai’s honor.

“We love Nawai, we love Nawai,” Jolene Hughes said aloud to herself, smiling, as the nurse manager in Short Stay and the Post Anesthesia Care Unit entered the room.

At the hospital, she knows what’s typically ahead. That’s why, during the celebratory visit, Choy immediately said, “No treatment today!” and Nawai responded with relief.

Numbing medicine is used for the spinal taps, but they’re uncomfortable procedures.

“After the second injection, I could tell a difference in her vocalization,” said respiratory therapist Darrel Mosher. Her voice had already become stronger.

Nawai has begun moving more independently, “dances” on her back to songs, hums along — remarkable, considering she barely vocalized before — and makes word-like sounds.

For example, her dad asked if she needed suction — removal of mucous so it’s easier to breath.

“Uh-huh,” she responded.

Jamie Irie calmly reached for a zippered bag, got a nozzle and attached it to the tip of a suction machine, and suctioned her mouth.

Then, he twisted the cap off and took a thin red tube and began threading it gently but confidently down Nawai’s nose, saying, “Rrrrrr …” as if making an engine noise.

He makes the process seem like a game, not a life-sustaining process he and Wendy do multiple times daily to help their daughter breathe easier.

Health providers marvel at such physical manifestations of love, carried out by both parents (and a grandma who spills kisses onto Nawai).

“This family is amazing,” said registered nurse Monica Gomes Figueira, clinical coordinator for Short Stay and the Post-Anesthesia Care Unit. “They are an amazing family, just for the way they care for Nawai and the support they have for each other. We spend hours with them.”

In that time, the Iries’ attention never waivers. They speak to their daughter just like they would to any child — except, at the same time, meticulously handling her medical needs.

It remains unclear how far the medication will help her progress. But her parents are grateful it has already helped.

The goal is to help her stabilize, and maybe even improve, Choy said.

“This has been amazing to me,” he said. “I never thought being in Hilo I’d get this kind of procedure done.”

It took a couple of months to arrange, he said, with “more logistics rather than red tape.”

“We really feel that it’s a privilege that they trusted us to do this,” said chief patient experience officer Jeanean Dillard, director of Surgical Services and Intensive Care.

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“Thank you,” Wendy Irie said. “We appreciate everything that Dr. Choy and the hospital has done for us and actually the community as a whole because everyone’s been so supportive.”

Email Jeff Hansel at jhansel@hawaiitribune-herald.com.