‘As A Doctor, You Will Never Forget’

 In Blog
Dr. Audina M. Berracol performed gene therapy on Creed Pettit to restore his vision loss caused by Leber congenital amaurosis at Bascom Palmer Eye Institute in Miami

Dr. Audina M. Berracol, Creed Pettit’s eye surgeon at Bascom Palmer Eye Institute in Miami.

Transforming laboratory research into real-life therapy for patients is a rare occurrence.

But when it does happen, it’s big. Huge, in fact.

Ask Dr. Audina M. Berrocal, the pediatric retinal surgeon who performed ground-breaking retinal surgery in March on 9-year-old Creed Pettit. Creed lived with severe vision loss caused by a rare inherited retinal disease (IRD) called Leber congenital amaurosis (LCA)* manifested by a mutation in his RPE65 gene. At the time of his treatment, he was the nation’s youngest patient to receive it.

Dr. Berrocal’s surgery at Miami’s Bascom Palmer Eye Institute on the third-grader marked one of those extraordinary times when research goes from clinical to surgical – from bench to bedside.

“It’s one of those honestly amazing moments in medicine,” she said. “Things that you think you are never going to see and here I am, doing it. As a doctor you will never forget.”

Dr. Berrocal, Dr. Byron Lam (who diagnosed Creed at age 2½ with LCA), and a surgical team, removed the vitreous, a gel-like substance attached to the retina’s surface – though Creed’s vitreous was thinner than normal – before administering the medication – LUXTURNA™ – a genetically engineered virus that supplanted Creed’s mutated RPE65 gene with healthy versions of the gene.

“The challenge is to lift the retina with the medication,” she said. “Detaching the retina, especially of a child, is pretty hard to do. We are looking through microscopes and special equipment that makes seeing the retinal layers easier, but it’s still challenging.”

Working with two syringes filled with the medication that is viable for only four hours, Dr. Berrocal said she could not find the right subretinal space to inject the treatment with the first syringe. She then successfully injected LUXTURNA with the second syringe.

“With the first case, everything is new,” she said of the surgery, which took about an hour. “The second eye, everything went smoother, quicker and faster.”

‘Science that revolutionizes medicine’

“It’s extraordinary,” she said. “It makes you feel you are on the brink of a new area of science that is going to revolutionize medicine and eradicate disease. This truly is the brink of an era of gene manipulation and gene therapy.

“To be living this as a physician is really, really unique and special.”

Before the surgery, Dr. Berrocal trained with people from Spark Therapeutics, LUXTURNA’s developer, to learn about the drug’s pharmacology and to train in the knowledge of the surgical process. This genetic treatment came to fruition after decades of research and millions of dollars, followed by approval by the Food and Drug Administration in December.

“The viral vector provides the correct gene that you need,” she said of the medication’s delivery system. “The concept can be used for any gene and I think this is truly the beginning of a revolution of genetic manipulation.”

Soon after the surgery, Creed enjoyed improved vision.

“We never expected it to change so quickly. I don’t think anyone was expecting it.”

“No one believed it,” she said when Creed’s mother, Sarah, reported two days after the surgery that her son’s vision dramatically improved.

No one except Dr. Berrocal.

“The thing is, people do not always believe mothers, but as a mom myself, I will tell you that no one knows a child better than mom. If Creed’s mom is saying that Creed never walked around with such little light before, then it’s true.”

A family tradition

Given her background, Dr. Berrocal being at this point in her career seems a little unsurprising. Her father, Dr. Jose Berrocal, trained with Dr. Charles Schepens, a Belgian ophthalmologist known as the father of modern retina surgery.

Her father became Bascom Palmer’s first trained retina specialist and the first such specialist in Puerto Rico. Dr. Berrocal’s older sister, Dr. Maria H. Berrocal, became a retina specialist and practiced with their father. Both women turned to medical school after graduating with degrees in political science and realizing politics wasn’t for them.

Dr. Berrocal, now 51, has two daughters and one son with her physician husband. She grew up helping her dad in the office, as ophthalmology was part of the family. She is now medical director of Retinopathy of Prematurity Services at Bascom Palmer and professor of Clinical Ophthalmology at the University of Miami.

Asked whether her sister was jealous of her doing breakthrough surgery, Dr. Berrocal laughed and said, “She’s very proud of me.”

Dr. Berrocal’s father always told her she’d end up doing something with kids, and she sealed the deal working under a mentor dealing with pediatrics and retinas in her 2002 fellowship at Bascom Palmer in Vitreoretinal Diseases and Surgery.

“I truly like kids more than I like adults. They’re honest, sincere, concrete. You can never lie to them; if you do, you lose their trust forever.”

Empowering children

Dr. Berrocal respects Creed, listened to him and talked to him as an adult. She said he wasn’t interacting during their first meeting in January. Over time, she won him over by caring about what he wanted and needed, especially the little things. Creed didn’t like having the ID band on his wrist, so she took off the band and he felt better.

“He’s much more comfortable with me now,” she said. “It makes it really special.”  

“They have to feel that they’re part of the process. It’s their body and it’s their eyes. I think empowering kids to be part of the process, taking in their feelings and their emotions, directing the conversation to them – that’s essential to make it work.”

Dr. Berrocal, as with most retinal specialists, is much more used to seeing children lose their vision and become blind.

“One of the most important things for me in this process has been watching a kid regain vision. This was a kid who couldn’t do things. He’s seeing the world in a different way. That is so powerful and so overwhelming. We cannot forget the importance of getting him ready for something so overwhelming.

“Learning to see again is hard emotionally. We have to somehow have these kids talk about it, how different their lives will be. How to guide them through it…We have never reversed the road to blindness before.”

Dr. Berrocal sees Creed for check-ups and more, confiding: “I can’t separate.”

Looks like that won’t be a problem for the surgeon – when she retires she knows Creed will be at the party.