|
Wonder boy heir son's first birthday Saturday was a celebration of a miracle several times over for Hajime and Aya Shimizu of Kaimuki.
Little Shun Shimizu is beating
the odds of a genetic disorderBy Helen Altonn
haltonn@starbulletin.comShun, their first child, had a traumatic start in life because of a rare genetic disorder, usually fatal for a male, and a liver transplant with many complications.
The tot crawling around now on the floor of the Shimizu home is alert and playful.
But four days after he was born at Queen's Medical Center on May 11 last year, he went into a coma when his father was holding him and trying to feed him.
Their pediatrician sent them to the emergency room at Kapiolani Medical Center for Women & Children where hemodialysis was done to save his life because of excessive ammonia in his body.
Blood samples were sent to Oregon and Washington, D.C., and Shun was diagnosed with ornithine transcarbamylase deficiency, a genetic disorder that cannot be detected until after birth.
This is a condition caused by a nonfunctioning gene on the X chromosome, said Debby Schmidt, clinical nurse specialist in genetics at Queen's.
The defective enzyme is in the urea cycle, which is responsible for removing highly toxic ammonia from the bloodstream. If it accumulates and becomes trapped, it reaches the brain through the blood, causing irreversible brain damage or death.
Shun's ammonia level skyrocketed, his father said. "All the doctors and nurses thought he wouldn't make it the first year. We still had faith for him to do well."
The infant was in Kapiolani 32 days, including five days on hemodialysis and a week on a ventilator, his father said.
Even before the diagnosis by Kapiolani's pediatric intensive care team, Janet Brumblay, pediatric genetics nurse at Queen's, suggested a strict low-protein diet and other measures to lower the baby's ammonia.
A Miracle Donation Fund has been established to help Hajime and Aya Shimizu defray medical and other costs involved with their 1-year-old son Shun's rare genetic disorder. TO HELP
Donations may be made to that fund at City Bank, 4211 Waialae Ave., Suite D-3, Honolulu, HI 96816; or to any City Bank branch. For more information, call 733-3220.
Dr. Greg Uramoto, Queen's pediatric endocrinologist, said Brumblay's recommendation of a new treatment protocol helped Shun survive long enough to be considered for a transplant by the Stanford University School of Medicine's liver transplant team.
Shun was the first baby from Queen's Comprehensive Genetics Center to live long enough to receive a transplant and is the first male infant with OTC deficiency to receive such a transplant at Stanford, according to Queen's.
Brumblay, the only specialized pediatric genetics nurse in Hawaii, said most babies with OTC, especially males, suffer so much neurologic damage that they are too weak to survive a liver transplant when they are old enough to be considered for one.
Even a baby who survives long enough often dies waiting for a suitable organ, she said.
She said Shun's life was saved because of "an intense commitment" by the Queen's Genetics Center, Department of Health dietitians, Kapiolani's neonatal intensive care unit and the Shimizu family.
The Stanford transplant team also played a major role, examining Shun during one of two annual visits to Kapiolani around Halloween.
"They were amazed that he was still alive and doing well," Hajime Shimizu said. "They wanted him to fly over right away."
When the Shimizus left Nov. 14 for Palo Alto, Calif., not only were they fearful for their baby, but they had no jobs.
With the economic decline after Sept. 11, Hajime was laid off in mid-October from his work of nearly three years as manager of a moving company. Aya had to quit her job as a sales clerk at the Royal Hawaiian Shopping Center to care for Shun.
"Initially, we had to feed him every two hours" through a tube in the nose, Hajime said.
The family stayed in the Ronald McDonald House near Stanford until receiving a call the night of Dec. 21 about an available liver. The surgery was done the next day.
Among complications that followed, Hajime said, the baby had to have extra medication to suppress rejection of the organ because of a difference in blood type. Infections occurred because of the breathing tube, and Shun's stomach had to be opened twice to flush out the infection.
The second time, one lung collapsed, which was not discovered for two hours, he said. The baby became very sick with water in his lungs and was on so much medication that he became puffy.
Because of infection on the suture, Shun's stomach was left open the second time to dry and heal naturally, Hajime said.
"It was a cycle. Every time they took extra fluid out, he would lose minerals ... and they would give him something else. We thought it would never end, but he's a tough fighter.
"For her (his wife), it was very hard to see, frightening. We were very scared," he said, especially seeing other people at the Ronald McDonald House losing their children.
In still another emergency, Aya Shimizu had an asthma attack Feb. 11 and stopped breathing. She was admitted to Stanford's emergency room for several hours and put on medications, her husband said.
He said he and his wife "never gave up," and doctors and nurses in Hawaii offered to do whatever they could to help. "Their attitude was so superb."
Since returning here March 16, Shun must take medicine twice a day and is monitored twice a week at Kapiolani. The parents must be alert to spot any viral infection, especially chickenpox, which could be fatal for Shun, Shimizu said.
The high ammonia levels also caused severe brain damage which is not noticeable now but may be when he is older and begins more complicated activities, the father said.
The couple plans to have Aya's blood tested to see if she is the carrier for OTC before having another child.
Schmidt explained that females with the OTC disorder may have mild to severe symptoms, but with two X chromosomes, they still have use of one.
"When boys have this condition, they only have one X chromosome, so if they have a broken gene on it, they're going to show the full effects of this condition."
Shimizu said he and his wife were lucky because a program for transplant patients paid their hospital and living costs in Palo Alto, but bills have been mounting at home.
He is looking for work and thinking of enrolling at Kapiolani Community College to become a respiratory therapist after seeing them in action with his son and wife.