Nine-year-old Creed Pettit became one of the first people in the US to get a newly-approved gene therapy to restore his vision yesterday in Miami.
Creed was born with a rare genetic mutation that causes Leber’s congenital amaurosis, a condition that makes it impossible for him to see in anything but brilliant sunlight or brightly lit rooms.
Until now there have been no treatments for Creed’s blindness, leaving him chasing sunlight just to see and wondering what a rainbow looks like.
But in December, the FDA approved Luxturna, a $425,000 per dose gene replacement therapy that Creed underwent yesterday.
Creed Pettit, nine, received the first gene therapy for his rare form of blindness yesterday
Creed’s mother, Sarah Pettit, ‘knew right away that something wasn’t right’ with his vision, she says.
For the first six months of his life, ‘during the day, if he was in the sun, he was such a cool relaxed kid, but at the moment you would take him inside, or the sun would set, or it was a rainy day, he would start to cry and it would go on all day,’ Sarah says.
She and Creed’s father, Ted, figured that maybe their son had colic, so they would take him out for the long night drives that so many parents swear by for soothing their babies.
They could drive the streets near their home in Mount Dora, Florida all night but Creed kept crying, except ‘when he would stare up at street lights, and then he was content,’ Sarah says.
When ophthalmologists examined Creed’s eyes – undoubtedly in an office flooded by fluorescent lights – they seemed fine.
In fact, Creed’s visual acuity was 20/50 in one eye and 20/40 in the other. From what the ophthalmologists could tell, he was a far cry from the 20/200 that is considered Legal Blindness.
Creed and his mother, Sarah Pettit (right) traveled to Miami for the operation. They have been waiting for the $870,000 treatment since he was diagnosed with Leber’s congenital amaurosis in 2011
Yet at home, once Creed started walking, his hands were always stretched out in front of him and he tripped over obvious obstacles like the family dogs and ran into chairs and sofas.
‘The only way he knew he was somewhere was when he hit it,’ Sarah says.
Creed stumbled forward through occupational and speech therapies starting when he was a year and a half, but ‘he was still missing every milestone,’ his mother recalls. She was starting to think that maybe she was just being a paranoid mother.
Finally, a therapist suggested that the family take Creed – then two-and-a-half – to get an electroretinogram (ERG) to test for abnormalities in his retina that would be missed in a regular eye exam.
If I was God, I would never have made me blind
The retina is a layer at the back of the eye which houses rods and cones – the light-sensitive cells that, when stimulated, send a nerve impulse to the brain to form a visual perception.
While Dr Byron Lam at the Bascom Palmer Eye Institute of the Miami Mill School of Medicine performed the ERG, Sarah was thinking: ‘In a minute they are going to tell me I’m crazy and to stop pestering my child,’ Sarah says.
Instead, Dr Lam had to repeat that Creed had Leber’s congenital amaurosis (LCA) twice before ‘I grasped that he is legally blind…I’m supposed to be this neurotic mom, and there’s nothing wrong with him,’ Sarah says.
LCA can be caused by any one of many mutations on the RPE65 gene. When he diagnosed Creed in 2011, Dr Lam told Sarah that phase III clinical trials for a gene therapy to treat her son’s condition were about to start – but he would only be eligible if he had one of the rarest mutations.
Creed has good visual acuity in bright light, so ophthalmologists at first missed his blindness
Dr Byron Lam diagnosed Creed at the Bascom Eye Institute when he was two-and-a-half (pictured)
Creed was in luck: he had the right mutation. When he was two-and-a-half, Sarah took Creed to Iowa where she hoped he would be accepted into a trial for the gene therapy, Luxturna.
But when they arrived, the doctors wanted Creed to pass a ‘grueling’ test. To qualify for the treatment he needed to navigate through a maze while wearing a darkening eye patch.
‘It sounds so simple but when you can’t see and…Creed hates eye patches so he was absolutely terrified of this maze,’ Sarah says.
They were rejected from the trial, but determined to try again. Sarah recreated the maze at home and ‘we practiced our butts off, but when we flew back when he was four-and-a-half, he froze,’ Sarah says.
I just want him to be a nine-year-old who won’t have to worry about chasing the sunlight
That was it for Creed. He was rejected from the trial again, and would not have access to Luxturna until the FDA approved it – if it got approval at all.
For the last four years, Sarah and Creed’s teachers made the best of things, for the boy, figuring out what worked (and what didn’t) to help him learn and grow.
Regular Little League was a no-go, but swim team for children with disabilities could work. Special education classes did not help, but now that his teachers have set up special bright lights all around his classroom, Creed is an excellent student at his private school.
Creed has been doing well, but when Luxturna was approved, Sarah wasted no time getting expensive surgery his surgery scheduled.
When all is said and done, the treatment and surgery to deliver it to both of Creed’s eyes will cost about $870,000, but insurance will pay for at least some of ‘this outlandish cost,’ and for whatever is left to pay, ‘we’re going to be fine and we’ll recover,’ Sarah says.
When Sarah tried to get Creed into a Luxturna clinical trial for the first time, he was too scared to do the required maze, so she recreated for them to practice at home
Before doing the maze, Creed was supposed to wear two eye patches, one of his biggest fears
‘That’s just what you do for your kids.’
She already knew that – other than being unable to do the maze – Creed was a good candidate.
‘If he were in his 40s, the disease would have progressed, whereas a kid like Creed, there has been some retinal structural deterioration, but it’s reasonably intact enough for gene therapy which can hopefully improve – or at least retain – his vision,’ explains Dr Lam.
During a one-hour operation at the Bascom Palmer Eye Institute at the University of Miami yesterday, Dr Lam and pediatric retinal surgeon Dr Audina Berrocal and a surgical team delivered the gene therapy to Creed’s right eye.
Instead of counting backwards the surgical team asked Creed to sing a song, and, as he inhaled the anesthesia, joined him in a rendition of I’ll Be There For You, the theme to his favorite TV show, Friends.
They carefully removed some of the fluid from the inside of Creed’s eye before using a microscopic needle – the width of a human hair – then replaced it with the fluid that contains the therapy.
Luxturna is delivered via a virus, suspended in a fluid. Genetic engineers ‘keep both ends of the DNA’ of the virus, but ‘replace the center portion by putting in normal DNA sequences’ for the RPE65 gene, Dr Lam explains.
Dr Audina Berrocal performs the retinal operation to deliver Luxturna to Creed’s eye
Once it is injected, the normal DNA sequence will start replicating instructions to make the proteins that Creed’s photocreceptors need to function properly.
Creed was a little nervous about wearing and removing an eye patch after the surgery, but Sarah says she is ‘very impressed with how he’s handled it.’
In a week, he’ll have the same procedure done on his other eye, to optimize his vision and prevent that eye from becoming lazy, but both Sarah and Dr Lam expect that it will go just as well as the first, improving his vision in the next six months.
The timing couldn’t be better, as Creed has recently recognized and begun to talk about the fact that he is different from other kids.
‘He’s started saying things like “if I was God, I would never have made me blind,” and realized that other kids can see when it’s not sunny,’ Sarah says.
‘I’m excited for him to have that little bit of normalcy. I just want him to be a nine-year-old who won’t have to worry about chasing the sunlight.’
Her son knows exactly what he’s looking for when his eyesight improves, too: ‘Creed is dying to see a real rainbow. That’s all he ever talks about, “one day I will see a rainbow,”‘ Sarah says.
Thanks to his operation, that day may be just over the horizon for Creed.