Another chance for Olivia

UF performs first diaphragm pacing surgery on child with Pompe disease

By Melanie Stawicki Azam

Olivia Salinas, 3, laughs with her mother, Michelle Ransom, her stepfather, Antonio Ransom, and her brother, AJ. Olivia, who has Pompe disease, recently underwent diaphragm pacing surgery to help keep her off a ventilator.

Watching a Barney DVD in her bed, Olivia Salinas looks like a typical preschooler, except for the tracheostomy tube in her neck.

But the 3-year-old girl from Tampa made history May 2, becoming the first child with Pompe disease in the world to have surgery to implant a diaphragm pacing system.

Saleem Islam, M.D., an associate professor of pediatric surgery in the College of Medicine, performed the procedure, which could help keep Olivia from being dependent on a ventilator. Pompe disease causes progressive muscle weakness, which can lead to respiratory failure in patients.

For her mother Michelle Ransom, the process has been filled with uncertainty. But the result has been worth it — Olivia is thriving.

“She’s in a lot of uncharted territory,” she said. “She’s doing a lot that has never been done before.”

A new procedure

In the pediatric intensive care unit at Shands Hospital for Children at UF just a couple weeks after her surgery, the little girl was already able to be off her ventilator for up to four-hour stretches. She smiled as she maneuvered herself in her tiny black wheelchair, decorated with pink curly ribbons, through the hospital hallways.

Olivia left the hospital at the end of May and is now off the ventilator all day, only using it when she naps or sleeps at night, Ransom said. Being off a ventilator has given Olivia the freedom to do the things she loves again.

“We go to the park, we go to the swimming pool, we go to the museum,” Ransom said. “She can go in her wheelchair and she doesn’t have a big ventilator box on the back.”

Her family hopes Olivia’s experience also helps other children with Pompe disease, a rare inherited neuromuscular disorder that causes muscle weakness. Patients with Pompe disease cannot produce the enzyme acid alpha-glucosidase, which is necessary for processing glucose. Without this enzyme, sugars and starches are stored in the body as glycogen, where they accumulate and destroy muscle cells, particularly heart and respiratory muscles.

Islam said Olivia’s experience is “very significant” for other children with Pompe disease. The fact that she has done so well reinforces this procedure as another option for Pompe patients who are in respiratory failure and unable to breathe without assistance.

“We anticipate doing this on more patients in the future,” he said.

Islam and UF trauma medical director Lawrence Lottenberg, M.D., performed a diaphragm pacing procedure for the first time on an adult with Pompe disease in August 2011. The procedure allowed New Jersey patient Mike Stanzione, 53, to breathe without a ventilator for the first time in four years and move from a nursing home back into his house with his wife and young son.

The diaphragm pacing surgery hadn’t been done on a child with Pompe before, but last fall Olivia’s family was willing to try anything that could give her another chance. Surgeons implanted the device, which provides electrical stimulation to the muscle and nerves of the diaphragm, the major muscle involved in breathing.

Powered by an external battery pack, the diaphragm system prompts the diaphragm to contract, allowing the patient to breathe more naturally than with a ventilator, which forces air into the lungs. Ventilator removal gives patients more mobility, allows them to regain their sense of smell and taste, and enables them to speak more easily.

Searching for a second chance

Olivia was diagnosed with Pompe disease when she was 6 months old, after she stopped eating and her motor skills stopped developing. Ransom had never heard of Pompe disease, but she scoured the Internet for information and found Barry Byrne, M.D., Ph.D., director of UF’s Powell Gene Therapy Center and a leading expert in the disease.

A professor of molecular genetics in the UF College of Medicine and a pediatric cardiologist, Byrne performs research and clinical trials aimed at helping those affected by genetic muscular diseases, including Pompe.

“When she was first diagnosed, doctors gave her two months to live,” recalled Ransom. “So I was coming here in desperation trying to find someone to save her life.”

Under Byrne’s supervision, Olivia started immune suppression treatment when she was 8 months old. She responded well and started to sit up, move her legs, crawl and stand with assistance.

In fact, Olivia was doing so well she started school this fall in Tampa. But after she got sick with a cold, her respiration and energy level plummeted. She was admitted to a Tampa hospital in December and transferred to Shands at UF in January.

“We saw she was having breathing problems and her heart was working much harder,” Ransom said. “So we had to make a decision.”

The agonizing choice was whether to proceed with a tracheostomy, a procedure in which doctors cut a small hole in the neck to allow patients to be placed on a ventilator to breathe. Ransom didn’t want Olivia to be hooked up to a ventilator for the rest of her life.

“She was so active, so happy,” said Ransom. “I just felt like it wouldn’t be fair to her.”

However, the diaphragm pacing surgery presented itself as a new option that could help Olivia and allow her to continue to be active. But she needed a tracheostomy first for the procedure, so Ransom agreed to the surgery.

“I can’t emphasize how hard that was,” said Antonio Ransom, Olivia’s stepfather.

The road ahead

Reflecting, Ransom said she knows she made the right decision for Olivia and she still is optimistic that one day there may be a cure for Pompe disease.

“That was the whole end goal — to save her life and get her breathing on her own again,” Ransom said. “Our hope is to preserve her life long enough to have a cure, with the minimum amount of discomfort.”

In June, Olivia’s family, which includes her 6-month-old brother, Antonio Jr., moved to Gainesville from Tampa to be closer to Olivia’s physicians at UF.

“We don’t know what the future holds. We’re just taking it one day at a time,” her stepfather said. “Everything we’re doing now, we’re breaking the mold.”