Boy's survival a miracle

By Catherine E. Toth
Advertiser Staff Writer

Smiling so big that his eyes nearly disappeared, Shun Shimizu scurried across the living room to his little table, picking raisins out of a cup and popping them into his mouth. He busily stacked plastic red circles on blue squares, laughing and sticking out his tongue.

Hajime Shimizu relaxes with 19-month-old son Shun and wife Aya at their Kahala home. Shun was born with an extremely rare genetic disorder. Jeff Widener • The Honolulu Advertiser

But under his blue-striped tank top is a reminder that Shun isn't a typical toddler.

A 6-inch slash across his abdomen marks a liver transplant he received a year ago.

Shun is the first baby in Hawai'i to live long enough to receive a transplant after being diagnosed with an extremely rare genetic disorder that caused his body to produce fatally high amounts of ammonia. Only one in a million babies have it.

And he is the only patient of the Queen's Comprehensive Genetics Center to survive.

Six years before he was born, another Hawai'i infant was diagnosed with a similar disorder. Kapi'olani Medical Center for Women & Children ordered special medication for him, which took weeks to arrive, and by then the infant no longer needed it. But the hospital kept the medication, and it was waiting for Shun when he was diagnosed with ornithine transcarbamylase deficiency, or OTC.

"That obviously saved his life," said Janet Brumblay, metabolic/genetics nurse with the Queen's Comprehensive Genetics Center, who treated both infants.

The other patient, Ryan Nishigata, died in August. He lived to age 7 — four years longer than doctors had expected.

"We were so lucky," said his mother, Karen. "He was very sweet, the best disposition, always smiling. Every day was a blessing ... I miss him."

After her son died, Karen Nishigata gave Aya Shimizu a purple beaded angel. Shun's mother keeps it in her purse as a constant reminder of the boy who saved her son's life.

"We should never forget about him," she said. "Shun is here now because of him."

Lifetime regimen

It is because of Ryan Nishigata, who died at age 7 of a similar condition, that medication was available to help Shun Shimizu. Nishigata Family photo

For the rest of his life, he will have to take two anti-viral medications at a certain time of day — a mistake could be fatal.

But this Christmas — Shun's first at home — the Shimizus finally can exhale. The worst is over.

For all the worries and warnings that he wouldn't make it, Shun is doing fine.

The Shimizus know how lucky they are. Most infants with genetic disorders affecting their livers don't live past age 3. And they usually have so much neurological damage, they're not considered candidates for liver transplants, the only "cure" for the condition.

Aya Shimizu cradled the purple angel in her hand as she watched her son dance around the living room of their Kaimuki home. She smiled, then remembered Ryan.

The families are forever bonded by their experience, in life and death.

"They're really, really lucky," Karen Nishigata said quietly of the Shimizus. "They're lucky he had a chance."

Normal birth

Shun was born May 11, 2001, at The Queen's Medical Center, a seemingly normal 5-pound, 6- ounce boy. His name means "runs like a horse," a Japanese name that stands for good luck and strength.

But four days after he was born, Shun fell unexpectedly into a coma.

"I thought he was just sleeping," said his father, Hajime Shimizu. "Babies sleep a lot. I was tapping him, 'Wake up, wake up, wake up.' But he wouldn't."

Shun's left arm was twisted backward, rigid and stiff. He wasn't moving. His doctor thought he might have pneumonia, and told the Shimizus to rush him to the emergency room at Kap'iolani Medical Center.

Shun stopped breathing. It wasn't pneumonia. The doctors were worried.

The blood test came back: Shun had a dangerously high level of ammonia in his body. (The normal umol-per-liter rate is between 10 and 30; Shun's levels were above 2,000.)

Something was wrong with his liver, and the neural toxins already had damaged his brain.

The infant was diagnosed with OTC, a metabolic disorder usually fatal in boys.

The condition is caused by a nonfunctioning gene on the X chromosome. The gene governs an enzyme that removes highly toxic ammonia from the bloodstream. But Shun's enzyme couldn't break down protein, and too much of it would send him into a metabolic crisis, his ammonia level skyrocketing.

"You never know what's going to happen," said nurse Brumblay, who has worked with the Shimizus since Shun was 2 days old. "There are so many questions: Are we going to keep this baby alive? Are we going to find out what is causing his ammonia level? Can we treat it? How much brain damage has occurred? ... These babies usually die."

Had his parents waited another hour or two, the doctors said, Shun would not have survived.

"I kept thinking, 'He'll be back home, it'll be fine,' " Hajime Shimizu said. "I didn't know how serious this would be."

For the next 32 days, Shun stayed in the hospital, including five days on hemodialysis and a week on a ventilator.

There was nothing the doctors could do. Shun needed a liver transplant to live.

Transplant unlikely

Experts told the couple the damage to their son's brain was so severe that he wasn't a likely candidate for a liver transplant. He was put on a low-protein diet, drinking a precise quantity of formula through a tube to his stomach every two hours, for two months.

Shun needed to show signs of progress to be a candidate for a liver transplant. Drinking the formula on his own would be one sign, and his parents tried different techniques to get him to drink from a bottle.

"We had tried everything,"

Hajime Shimizu said. "Different nipples, different bottles, different positions. We even pinched his cheeks."

But every 6 1/2 weeks, Shun's ammonia levels soared, forcing the family back to the emergency room and wondering what to do next.

"I always hope for something to happen, either a breakthrough in enzyme replacement therapy or maybe a liver transplant," Brumblay said. "But if you look at boys with this condition, they almost never get a transplant. They have to be at a certain age and at a certain developmental stage. Most don't make it that far. And if they live long enough to get the liver transplant, most can't because of the brain damage."

The Shimizus never gave up hope. They held on, waiting for a sign, a miracle, anything.

Then, one day, Shun started drinking the formula on his own. The progress, small as it seemed, would improve his chances.

"He miraculously started sucking the bottle on his own," his father said. "We were so happy."

A few months later, on Halloween 2001, the Stanford University School of Medicine's liver transplant team visited the state. Surprised to hear about Shun's condition — and his improvement — the doctors considered him a candidate for a transplant. Within two weeks, the Shimizus were on a plane to Palo Alto, Calif.

"It was so hard," Aya Shimizu said. "But I was happy he was getting a new liver. I could sleep (for the first time in months.)"

Torturous wait

The family moved into the Ronald McDonald House near Stanford, making friends with other families who had children waiting for organs. Some survived, some didn't.

"These families have a strange bond, because they're all suffering together," Brumblay said. "When things are going bad for one family, the rest just really come forward. They all feel it."

They still keep in touch with the families they met there, the people who supported and sympathized with them, the people who understood.

On the night of Dec. 21, 2001, the Shimizus got the call they were waiting for: A liver was available. Shun went into surgery at 6 a.m. the next day.

His stomach had to be opened three times because of infections. Once, one of his lungs collapsed. Another time, the infection on the suture was so severe that his stomach had to be left open for weeks to allow it time to dry and heal naturally.

Overwhelmed and exhausted, Aya Shimizu forgot to take her asthma medication and suffered a severe attack that stopped her breathing. She was admitted to the hospital.

"(The whole experience) definitely changed me," her husband said.

When the family returned to Hawai'i in March, Hajime Shimizu re-evaluated his life. He decided to go back to school to study respiratory care, to learn how to better care for his wife and son. He finished his first semester at Kapi'olani Community College this month.

"I wouldn't say we were lucky," he said quietly. "It wasn't luck."

Shun is alive because of doctors, nurses, families and friends who supported them, he said.

"And it was his willingness to get well," added Aya Shimizu. "He wanted to survive."

Reach Catherine E. Toth at 535-8103 or ctoth@honoluluadvertiser.com.