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Valrico Beef O' Brady's Aids Infant's Family

Photo by Michelle Burruezo

Olivia Salinas is undergoing treatment for Pompe disease, an incurable disease that kills most infants before the age of 2.

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By D'ANN LAWRENCE WHITE | The Tampa Tribune

Published: March 26, 2009

VALRICO -
She was such an easygoing baby, always smiling and giggling.

So when Olivia Salinas suddenly became fussy at 6 months old, her parents, Ryan Salinas, 24, and Michelle Burruezo, 20, of Brandon, knew something was amiss.

"Everything had been great up until then," Ryan Salinas recalled. "She was such a happy baby. Then we noticed something was wrong when she started refusing her bottle."

Olivia's pediatrician diagnosed her with an ear infection and put her on an antibiotic. When she didn't improve, the couple took her to Brandon Regional Hospital, where doctors discovered Olivia's heart was enlarged.

In fact, it was the size of an adult heart. They first suspected she might have cardiomyopathy, a serious heart disease in which the heart muscle becomes inflamed, enlarged and doesn't work properly. They transferred the baby to St. Joseph's Children's Hospital of Tampa for further testing.

The doctors at St. Joseph's came back with even more shocking news.

"They brought in a social worker and chaplain, so we knew it was serious," said Salinas, recalling bits and pieces of the conversation through the daze. "I remember they were quite compassionate about the way they told us, but they didn't want to downplay it or tell us something that wasn't right. They told us it was a terminal illness. There is no cure, but researchers did come up with a treatment about three years ago."

It's called Pompe disease, named after the Dutch pathologist J.C. Pompe who first described a 7-month-old baby who died suddenly from the disease in 1932. A rare disease that occurs in one in every 40,000 births, it is a genetic disorder that occurs when both parents carry a certain recessive gene.

"No one in our families has ever had the disease," Salinas said. "It's just the combination of mine and Michelle's genes that caused it."

The disease mutates a gene that makes an enzyme called alpha-glucosidase, which the body uses to break down glycogen, a stored form of sugar used for energy. As a result, excessive amounts of glycogen accumulate everywhere in the body, especially the heart and skeletal muscles. Most babies with Pompe disease die from cardiac or respiratory complications before their first birthday.

Doctors told the young parents that, without treatment, Olivia most likely would die within two months.
But Salinas wasn't ready to say goodbye to his baby girl.

"I got on the Internet and started doing some research," he said. He discovered that just two hours from their home, doctors at Shands Children's Hospital in Gainesville were conducting breakthrough research and clinical trials on patients with Pompe disease.

"They could offer treatments that, although they may not cure her, could prolong her life," Salinas said. "I figured prolonging her life is better than doing nothing. We want the best for our baby."

They contacted Shands, and Barry J. Byrne, a professor of pediatric cardiology and molecular genetics, medical director of the Congenital Heart Center at the University of Florida and director of the Powell Gene Therapy Center, agreed to see whether Olivia would be a candidate for the hospital's trials.

For eight years, Byrne, who holds a medical degree and doctorate, has been involved in laboratory research, developing enzyme replacement therapies for Pompe disease. The research and trials are being funded through the National Institutes of Health and the American Heart Association.

So far, the clinical trials have show that enzyme replacement therapy has decreased heart size, improved muscle function, tone and strength, and reduced the accumulation of glycogen in babies with Pompe disease.

Byrne and his research team made national news in 2001 when they successfully restored normal muscle function in mice with Pompe disease with just two doses of the enzyme replacement. A year later they began testing the enzyme on humans. It now has been approved by the federal Food and Drug Administration.

As far as Salinas is concerned, the new drug was created in anticipation of the birth of his daughter.

"It's a miracle that these doctors were doing this research so close to us," Salinas, who recently returned from Gainesville with Olivia after she underwent initial testing and suppression of her immune system in preparation for her first treatment this week. "We're putting a lot of faith in these doctors. We know they'll do everything possible for her."

Back home, Salinas also is getting a great deal of support from his extended family at Beef O'Brady's on State Road 60 in Valrico, where he has worked as a cook for nine months.

"The staff at the restaurant is extremely close," said Reagan Thomas, wife of Beef O' Brady's owner Jeff Fuerst. "And we've known Olivia since she was born. I have a 3-month-old myself, and I just feel so helpless. She's such a sweet little girl."

Salinas said Olivia most likely will need enzyme treatment every other week for the rest of her life. They hope to work out an arrangement so she eventually can receive treatments at St. Joseph's Children's Hospital and will have to travel to Shands just once a month.

In the meantime, the cost of gas, food, parking and time out of work are taking their toll on the young family.

"We found out about Olivia March 1 and decided to do something right away to help the family," Fuerst said. "So on March 8 and 9, the restaurant donated 20 percent of the sales those days to Ryan. I also matched the donations, and customers came in and gave cash donations. We ended up raising $2,400 without any real publicity other than word of mouth."

The staff plans to follow up with another fundraiser, a pancake breakfast set for 8 to 10 a.m. Saturday at the restaurant. The cost is $7 for adults, $4 for children. The event also will include drawings for dog care, cat care, personal care and Beef O'Brady's gift baskets.

"We're hoping to raise another $3,500 with this fundraiser," Fuerst said.

"The people at work have been wonderful, really supportive and helpful," Salinas said. "Reagan calls every other day to check on us. It's a sad story, but we're very hopeful. There's no telling what can happen."

Anyone who can't attend the pancake breakfast but would like to make a donation can drop off or send contributions to Beef O'Brady's at 2561 E. State Road 60, Valrico, FL 33594. The restaurant also welcomes donations for its drawing. Call (813) 655-1055.

Reporter D'Ann Lawrence White can be reached at (813) 657-4524.

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