This is the fourth in a series following the progress of Creed Pettit, a 9-year-old Florida third-grader, who completed treatment in March with the breakthrough gene-therapy drug called LUXTURNA™, approved as the first gene therapy for RPE65 genetic mutations and as the first-ever genetic therapy in the United States for an inherited disease.
A rainbow drawn over Creed Pettit’s left eye on Wednesday, March 28, marked the correct eye to receive surgery, but even more so, the arc symbolizes what the third-grader from Mount Dora, Fla., hopes to see after his recovery.
The 9-year-old with LCA-RPE65 underwent his second surgery that afternoon – this time on his left eye – with the revolutionary genetic therapy drug LUXTURNA™.
Creed, recovering from his second surgery March 28 to reverse his vision loss caused by LCA-RPE65.
Creed’s mom, Sarah St. Pierre Pettit, said in a Tuesday email that her son’s right eye shows distinct improvement since surgery last Wednesday, March 21.
“The doctor already saw new growth in the photoreceptor yesterday (Monday, March 26),” Sarah said about improvements already showing in the right eye. “She was so excited.”
Six days after the first surgery, the boy’s mom wrote, “Creed’s spirits are so high.”
“He keeps saying ‘I did it without light,’ when he reads or eats or draws. It’s so cool,” Sarah said. “I am loving every moment but must admit I’m completely exhausted.”
She said that he is asking so many questions about what things are. “It’s wild.”
In 2011, doctors diagnosed Creed at almost 3 years old with LCA. He later received a confirmed genetic diagnosis of LCA-RPE65. Sarah tried to get him into clinical trials for LUXTURNA™ when he was 3 and 4, but her little boy could not perform tasks required by the study, such as trying to navigate a maze.
He had told his mom that after surgery, he couldn’t wait to see a real rainbow and he couldn’t wait to throw his canes in the lake.
Creed 4 days after his first surgery to reduce his vision loss caused by LCA-RPE65. He is smiling at the camera, because he can see the camera.
Since Creed’s first surgery, Sarah has taken photographs of him pointing to her without any lights on and smiling at the camera after being able to see it.
Before the first surgery there had been a few delays, so to help pass the time, Creed and his mom sang “I’ll be there for you,” the theme song from the television show “Friends.”
Sarah said she cried a lot.
Before today’s surgery, Sarah wrote: “The experience was mind-blowing. Our LUXTURNA™ arrived and
we waited for it to be mixed. It felt like an eternity waiting. Mom (Sarah’s mother), Chad (Sarah’s fiancée) and I fasted with Creed.
“The team was amazing. They were so good with Creed and I, explaining everything and allowing me to hold him as we went back and (allowing us to) stand next to him as he went to sleep. It was so hard to leave. Yet I felt this sense of comfort knowing they truly had a love for Creed.”
Christian Guardino underwent experimental eye surgery five years ago with a revolutionary genetic treatment called LUXTURNA™, forever changing his life by restoring his vision that was lost due to Leber congenital amaurosis-RPE65.
On the heels of government approval of this extraordinary drug, the 18-year-old from Long Island recently had the opportunity to thank Spark Therapeutics, makers of this transformative treatment.
The senior from Patchogue-Medford High School recounted his experience of receiving the drug during clinical trials and thanked Spark for their incredible, life-changing work that the Food and Drug Administration approved in December 2017.
Christian’s 2013 surgery involved injecting a human-engineered virus containing copies of a normal gene so that the cells could express a protein needed by the retina to convert light into vision-enabling signals sent to the brain. LUXTURNA™ also is the first treatment of its kind in the United States for any inherited disease.
Before surgery, Christian had difficulty seeing even in very bright light; after surgery, the teen-ager, who also is an accomplished singer, experienced something astonishing as he stalled offstage, preoccupied with the night sky before performing outdoors at Long Island’s Adventureland.
“My eyes were glued to the sky and I was looking at the moon for the first time,” Christian said. “That was pretty cool.”
During his meeting with Spark, Christian also sang three songs.
He offered a true treat, singing a very bluesy version of “Who’s Loving You” by the Jackson 5, the same song he performed for his audition a year ago on “America’s Got Talent,” where host Howie Mandel hit the “Golden Buzzer” button, speeding him forward to live competition.
During that appearance, Christian answered Simon Cowell’s introductory questions with the tentativeness of any 16-year-old on stage before a packed house and millions of television viewers. Seconds before the audition, the camera flashed to audience members in hold-your-breath anticipation. When the music began, Christian brought the microphone to his mouth and belted out a soulful, strong, self-confident performance, belying his youth and bringing the audience to its feet.
Christian, whose musical heart is in soul and the Motown sound, recently said: “There’s just so much truth and meaning in soul and Motown. To have that kind of soul, you have to be really down in life.”
At the meeting with Spark, Christian also sang “Rise Up” by Andra Day and “Don’t Stop Believing” by Journey.
From left, Children’s Hospital of Philadelphia Research Coordinator Kathy Marshall, Dr. Albert Maguire, Christian, Christian’s mom, Beth, Dr. Jean Bennett; at Oct. 2017 FDA Advisory Committee LUXTURNA meeting.
From that meeting, Christian, his mom, Beth, dad, Nino, and younger brother, Nicholas, traveled to Orlando, Fla., where he was one of 10 national champion ambassadors – patients who triumphed over great odds – for the Children’s Miracle Network Hospitals (CMN Hospitals), a national organization raising funds and awareness for 170 children’s hospitals.
He represented Children’s Hospital of Philadelphia (CHOP), as their national champion, at the invitation of LUXTURNA™ developers, Drs. Jean Bennett and Albert Maguire.
After performing there, Hunter Hayes, a Grammy-nominated singer/songwriter, surprised Christian by telling him he was a big fan and inviting him to a future studio session.
The hunt for a genetic diagnosis
Christian’s mother, Beth, noticed that his eyes did not track when was about 3 months old and that he did not make eye contact, rather gravitating to light sources. Doctors suspected some sort of eye disease, including LCA.
His family noticed something else different before he was even 6 months old, when a visual therapist worked with Christian to track the song “Twinkle, twinkle, little star” on video.
“All of a sudden, in his bouncy seat,” Beth said, “He starts humming, ‘Twinkle, twinkle, little star, how I wonder what you are…’ ”
“Is that normal?” she asked the therapist, who looked at her and said, “Noooo!”
He would repeat everything he heard, singing scales and la-la-la-la-la-la-la-la all over the house.
“His musical ability, even as an infant and a toddler, was just off the charts,” Beth said. “I knew it was really something different.”
After having “every test under the sun,” doctors diagnosed Christian with LCA at 9 months old.
“At the time, so little was known about LCA. They didn’t give us much information.”
Doctors told her then that his vision would be stable or slightly improved, which turned out not to be true.
A pediatrician then referred Christian to a geneticist, to no avail.
“That’s one thing that actually surprises me now. Even back in 2000, they were not able to identify his gene.
“There was nothing we could do. We enrolled him in early intervention and had to accept the fact that he was visually impaired. We just did the best with what we had.”
When he was about 10 or 11, Christian started missing things, even in bright light, and when he didn’t recognize a friend at a church barbeque, Beth knew something was not OK.
She found information online and signed up for a family conference in Philadelphia sponsored by the Foundation for Retina Research, which has since melded into the Foundation Fighting Blindness (FFB).
“We found out during a presentation that he was going to go completely blind,” Beth said. “Here we were, sitting in a roomful of acquaintances, that was kind of hard to hear.
“It was really, really overwhelming, and I literally had to fight not running out of that room because I was really so completely…,” she paused saying through tears, “It’s emotional.”
Joining the clinical trial
Christian was genetically tested at that summer 2012 conference and received results in March 2013. Dr.
Christian in June 2015 at his second-year follow-up at Children’s Hospital of Philadelphia.
Bennett also tested the sample in her lab and was 90 percent sure he had RPE65.
“We agreed to be part of the research,” Beth said. “Whatever we can do to help get things further along.”
Three months later, Christian underwent surgery.
“The first thing was really when I woke up, I was in a very, very dark room with one little lamp. ‘Dominique, is that you?’ ” Christian asked, referring to Dominque Cross, a CHOP research coordinator sitting in the room.
“I didn’t even know what to think because I’ve never really seen in a dark room. It was hard to get used to because I was used to what I saw before.”
His eyes were treated a week apart.
Beth said, “My husband and I were sitting in the room.” The doctor took off the patch and “his head turned in our direction. ‘Mom, Pop, is that you sitting there?’ ”
The whole room erupted.
Returning to school as an eighth-grader, Christian said, “It was kind of crazy because I could walk down the hall and see someone waving to me, instead of being antisocial. I wasn’t actually antisocial (before) but I seemed antisocial. Now I could see who I was talking to. It was pretty awesome.”
Shortly after surgery, he began performing with Idolmaker USA, a local talent-show company, and then went on to win Amateur Night at the Apollo Theater, marking his entrance into the real world of singing.
Christian’s now a senior and even as he talked, he couldn’t believe he’s so close to graduating.
“I graduate in June and that’s in, like, three months. It’s really just hitting me now.”
But it’s not like Christian doesn’t have plans.
“I just want to follow my career, singing, get in the studio and put out some of my own stuff.”
He recently worked with Sacha Skarbek, a British songwriter and record producer who has written songs for James Blunt and Miley Cyrus and worked with Adele, Lana Del Ray, Tears for Fears and others.
The songwriter chose one of his songs for Christian to record and then donated it to the Vision of Children Foundation, which is making a documentary called “Vision Hero.”
The name of the song and its lyrics are top secret for now, but Christian did say he recorded the song last month in Los Angeles.
“Andddddd we’re off 💓,” Sarah St. Pierre Pettit wrote Saturday afternoon as she, her son, Creed, and her fiancée, Chad, piled into their SUV. They’re headed south for Miami’s Bascom Palmer Eye Institute where doctors await Creed’s arrival for ground-breaking, gene-therapy eye surgery using LUXTURNA™ to correct his LCA RPE65 gene mutation.
LUXTURNA™, developed by Spark Therapeutics, is a revolutionary genetic treatment in which a human-engineered virus containing copies of a normal gene is injected under the retina. Creed’s surgery will be among the first since the Food and Drug Administration in December approved LUXTURNA™, which also is the first-ever genetic treatment in the United States for any inherited disease.
Emotions have been running high for Creed’s mom, Sarah of Mount Dora, Fla., and they kicked into even higher gear Friday. That’s when Sarah’s mom picked up Creed’s dog, Annie, to stay with her while Creed and company readied for Saturday’s five-hour ride to Miami.
She said it “hit hard,” when her mom picked up Annie, described as a pound dog, not a service dog.
“I lost it,” she wrote in an email. “This is it. 9 years of fighting and it’s finally here. So crazy.”
Sarah’s mom, Mary, will leave the pooch with family and friends and meet up with the family in Miami on Tuesday.
Today, Creed is undergoing pre-op tests and could learn when doctors will perform the surgery. The original dates were Wednesday for Creed’s first eye, and a week later, March 28, for his second. Sarah said Creed is sick of waiting, but he is excited for the surgery.
This morning, Creed asked Sarah’s fiancée, Chad, to bring all of Creed’s canes after the second eye surgery so he can throw them in the bay.
Told at age 12 she would be blind by 18 because of her Leber congenital amaurosis, Misty Lovelace of Kentucky participated in the gene therapy trials for LUXTURNA, to treat visual impairment caused by LCA-RPE65. At 18, the age when a doctor predicted Misty would be blind, she is ever so grateful for her sight.
Turning 18 marks a milestone for most teenagers, but for Misty Lovelace of Kentucky, turning 18 meant celebrating her ability to see vibrant colors and sparkling stars.
It wasn’t supposed to be this way.
Misty, recalling a doctor’s pronouncement six years ago, said: “One day, I’m going to wake up and I’m going to be completely blind and it’s going to happen before I’m 18.
“It’s really hard for a 12-year-old to hear that,” she said. “It was really sad, really sad.”
Misty was born in October 1999 and diagnosed at 3 months old with “some kind of blindness.”
“In 2000, genetically, things weren’t existing then.”
To understand Misty’s level of vision then, she says to imagine wearing very dark sunglasses and looking through a PVC pipe. With no peripheral vision, she had to move her head, rather than just her eyes, to see up and down.
“They didn’t tell me much of anything,” she said. “They just label you and you just go on. It’s trial and error. You never know what the right problem is until you find it.”
Back then, Misty felt different about the idea of genetic testing. “It wasn’t tremendously important for me to get it. It’s an option we can do.”
Now, “Clearly, I would definitely recommend it and I would recommend it at a young age.”
Misty was 12 when she joined Dr. Sisk’s research project for gene-therapy treatment for LCA-RPE65.
“They sat me down and said the surgery could make it the same, make it better or make it worse. Facing a choice between waking up blind before 18 or the surgery’s going to do it, you gotta take a risk.”
As a preteen living with her grandparents, Misty consented to genetic therapy surgery as part of clinical trials for the recently approved drug called LUXTURNA™.
In December 2017, the Food and Drug Administration approved LUXTURNA™, developed by Spark Therapeutics , as a breakthrough genetic treatment in which a human-engineered virus containing copies of a normal gene is injected under the retina.
Misty underwent the revolutionary treatment in 2013 when she was 13, and she experienced greatly improved vision in 24 hours.
“It’s amazing; I never thought that detail could be detail,” she said. “I can see hairlines, I can see little things that are so, just so nice. I see colors and bright neon colors.”
And now, at 18, the age when a doctor predicted Misty would be blind, she is ever so grateful for her sight.
A passion for horses
Before getting into the clinical trial and having surgery, Misty began riding horses.
And that was a whinny and a snort I heard in the background while we talked. And she did sound like she was on top of the world. And, indeed, she was, riding atop Sassy, her paint appaloosa in a windy Kentucky field.
“I train horses, I give lessons. I love to give horses their second shot,” she said. “People see a horse one time and don’t put a lot of effort into it. They break metal fences and knock down poles, trample people.
“I like it because the only way you can learn and expand your knowledge of horses is to find the troublemakers. That’s what my horse is, definitely the troublemaker.”
Misty said she would have continued her interest in horses even if she didn’t have the LUXTURNA treatment.
“It just helped me. It helped people trust me because not everyone is going to let a visually impaired or blind person ride a stubborn, crazy horse.”
She gets along with horses well because her visual impairment gave rise to what she calls a sixth sense. She said she often can feel people’s presence before it is obvious, and horses possess similar instincts.
“Horses are very, very, very amazing creatures. They can sense your emotions. They can read you like a book. They are very smart, intelligent animals.”
Misty’s also learned about human nature along the way and the desire to fit in.
Real stars, for the first time
She remembered when she was in fifth grade and someone brought in a big drum, which turned out to be a celestial telescope. Everyone in the class, except her, could see the stars.
“They drew them on a piece of paper. Kids asked if I could see them and I said, ‘Yeah,’ even though I didn’t really see. Kids are mean, they always have been. As soon as I went to middle school, I started to be put down. I was called Helen Keller, kids were absolutely awful.”
She left school in the middle of seventh grade to have the surgery and returned at the beginning of eighth grade.
“When I came back, everybody thought I was so different. They didn’t know what happened. It was a complete turnaround. Everybody wanted to be my friend.”
She now is homeschooled, calling it the best thing in the world.
“I would recommend it to anyone visually impaired. I get to wake up early, do my schooling and I ride my horse the rest of the day.”
She is particularly happy about one of the moments in her journey.
Before Misty’s mom passed away, shortly after her eye surgery, mother and daughter shared a special time.
“She got to see the moment of me first-ever seeing the stars,” Misty recalled. “It was funny, too, me and my sisters, we were all swimming in our Walmart swimming pool, being careful of the chlorine. I looked up at the sky and just started screaming, and I had no idea what they were and why they were there and why did they blink. (My mom’s) freaking out and I’m freaking out.”
Running out from the house, Misty’s mom thought chlorine had gotten in her daughter’s eyes, while Misty initially felt angry, a little betrayed, that the stars in the sky didn’t look at all like the five-pointed ones she’d seen in drawings.
Then she realized the stars she saw were the real deal.
“Now I love looking up in the sky and seeing the stars. I love thinking that at one point in time, they were imaginary for me.”
This is the second in a series following the progress of Creed Pettit, a 9-year-old Florida third-grader, who completed treatment in March with the breakthrough gene-therapy drug called LUXTURNA™, approved as the first gene therapy for RPE65 genetic mutations and as the first-ever genetic therapy in the United States for an inherited disease.
Sarah St. Pierre Pettit and her son, Creed, made the six-hour trip to a Miami eye hospital many times in the past, but on their most recent visit, driving back home was different.
“We usually have hope when we leave from Miami,” said Sarah, referring to hope for a treatment for her 9-year-old son’s vision loss due to Leber congenital amaurosis.
9-year-old Creed Pettit holding his “surgery scheduled” paperwork after he and his mom met with surgeons at Bascom Palmer Eye Institute in Miami to schedule his gene therapy treatment with LUXTURNA.
“This time was the first time I’ve ever come back home from Miami with a set date and hope.”
That date would be March 21st for genetic therapy surgery at Bascom Palmer Eye Institute using LUXTURNA™, a revolutionary treatment to correct the RPE65 gene mutation in one of Creed’s eyes.
The next important date will be March 28th for the same surgery in Creed’s other eye.
“I am on CLOUD 9!!!” Sarah emailed Monday, Feb. 19, hours after meeting with a team of doctors at Bascom Palmer.
The news comes after Sarah’s insurance provider, working with the developer of LUXTURNA™, Spark Therapeutics, gave the go-ahead to schedule surgery. The company established Spark Therapeutics Generation Patient Services™ to support commercially insured patients and their caregivers in the United States and help them navigate the insurance process, according to a Spark Therapeutics’ news release.
Soon after doctors diagnosed her son at the age of 3, Sarah began raising money, totaling about $100,000 that has gone toward research into finding a treatment for LCA-RPE65.
Creed, Sarah, Sarah’s friend, Chad, and Sarah’s mom, Mary, drove from Mount Dora to Miami on Sunday, Feb. 18; on Monday, a team of nurses and doctors met them and talked about what to expect for the surgery.
Meeting the gene therapy team
Dr. Audina M. Berracol will be doing Creed’s surgery. She is a Professor of Clinical Ophthalmology, specializing in areas including vitreoretinal diseases and surgery.
“She was amazing,” Sarah said. “We just had a chance to really meet her.”
Dr. Berracol answered Sarah’s questions and put her mind at ease. Creed has a sensory issue with anything that is “sticky” and had difficulty with patches on his eyes. To help overcome this, the doctor sent them home with a roll of tape used for patches.
“It’s to get him used to it because he’s not going to be able to pull it off,” Sarah said.
Creed later asked his mom how many minutes are in 24 hours. She Googled it and found 1,440 minutes.
9-year-old Creed Pettit being tested at Bascom Palmer Eye Institute in Miami in advance of his gene therapy treatment with LUXTURNA.
He wanted to know because that’s how long he’s going to have to wear an eye patch after surgery.
“So that’s fine,” she said. “We’ll count down from there.”
Sarah also wondered what happens after surgery if Creed cries. It’s OK to cry, as long as he doesn’t rub his eyes. A small blister, called a bleb, forms after the surgery, creating vision as if looking through a fish-eye lens.
“Once it pops (naturally), you know you’re in the clear” the doctors said.
And Sarah asked about administering fluids intravenously, because Creed pulled out an IV after he woke up from having his tonsils out.
The doctor assured her that the IV will be placed so it can’t be pulled out.
She also learned the surgery usually lasts about an hour, much less time than she had imagined.
‘Excitement and worry’
Back home, Sarah reflected that everything was just so overwhelming.
“It was a long trip home but worth every second of it.”
Creed said the trip was “a one-night stay and we went to Bascom Palmer Eye Institute.”
As for the surgery, Creed said, “I’m feeling a little nervous.”
So is mom. Two days after returning from Miami, new fears crept in as she thought about all the “what ifs” that could happen during surgery.
“I can say other LCA moms are feeling this same emotion,” she said. “Waves of excitement and worry all flow through.”
Her feelings are smoothing out as she and Creed get back to their usual routine for the next several weeks before driving back to Miami for the surgery.
“We’re just going to plug along with school, and Creed’s school has offered to meet with me as to how we’re going to keep him on track while we’re there.”
