Heather Le’s anxiety accompanying her daughter’s diagnosis of Leber congenital amaurosis melted into relief when she connected with a mom whose daughter was also born with LCA. And this mom – Christina Reichardt – came with the bonus of being Doctor Mom. Christina Reichardt, the mother of LCA patient Ashlyn, is a doctor of optometry in Tucson, Ariz.

The two connected when Heather, of San Diego, Calif., learned from Christina that her daughter underwent a procedure at Children’s Hospital of Los Angeles (CHLA) to correct an LCA gene mutation. Heather’s daughter, Monroe, and Christina’s daughter, Ashlyn, have LCA with a mutation in their RPE65 gene.

Dr. Aaron Nigel administered the ground-breaking genetic therapy called LUXTURNA™ to Ashlyn last May and June when she was 10 years old. Two months later, 6-year-old Monroe had the same surgery, in which a human-engineered virus containing a healthy version of the gene is injected under each retina, a week apart.

Dr. Nigel asked Christina if she would connect with other families living with LCA-RPE65, a request she considered an honor.

“It’s has been the biggest blessing to connect,” Christina said. “I truly consider these moms as friends and know we will always have the special LUXTURNA connection.”

She said she talks to at least one RPE65 mom a week: “It’s a highlight, sharing experiences and stories and life. Checking in the days of surgery and the days thereafter.

“It’s good for both of us,” she said. “We need to heal, too, as parents.”

Driving home from Ashlyn’s surgery, Christina talked with Heather, who was thrilled to get answers from the “mommy and doctor side.”

“She walked me through everything. I don’t know what I would do without that woman,” Heather said. “I mean she has been absolutely amazing. Since I had Christina to reach out to, I was more at ease because she was there for me to ask any mother questions I had.”

Christina enjoyed sharing her experiences.

“We still keep up with one another. We share videos and photos. I shared pre-op and post-op experiences, how Ashlyn felt, medicine talk of how she felt and the best way I found to get her drops and ointment in her eyes.”

Heather and Christina are among the many people who have connected and helped each other in their journeys with LCA or other inherited retinal diseases (IRDs). Sharing stories, LCA families shed feelings of isolation that often accompany diagnoses of rare diseases, and they become part of an understanding and resourceful community.

Hope in Focus (formally Sofia Sees Hope) encourages and helps make these kinds of connections through its Family Connections program, its  Facebook page and events, including its upcoming second LCA Family Conference in Philadelphia from July 26-28.

Genetic diagnosis is key

To get a clinical diagnosis, Christina and Heather knew they would have to have their daughters genetically tested.

Even though Heather felt scared, she knew she needed that diagnosis to get more answers. Shortly after Monroe turned 4, she received her RPE65 genetic diagnosis. (See Monroe’s Jan. 1, 2019, story on our website.)

Christina knew three hours after giving birth that something was not quite right with her daughter. Ashlyn was misdiagnosed with night blindness and, being a mom with a medical specialty in vision, she knew she had to start figuring out exactly what was affecting her daughter’s vision.

“I insisted on genetic testing.* She was tested genetically prior to this for other things. Since she was an infant, I said, ‘let’s just genetically test for everything.’ In my heart I felt there’s something more. If we don’t have a diagnosis that’s correct, we won’t have the information to help her.”

Christina, who practices optometry with her dad, said she had heard of LCA, but didn’t know much about it.

“This journey with Ashlyn has made me a better doctor.”

She felt happy to have a diagnosis, shocked because it’s not a common disease and upbeat, saying: “Hey, this is something we can do something about. This is it; this is what we’re going to do. We never looked back.”

The RPE65 diagnosis marked the first of many firsts.

“A feeling of peace and fear, but with that fear a calmness, once I was able to connect to others in the same situation,” Christina said. “Diagnosis was huge. Ashlyn was diagnosed much older than many.

“I believe many kids are still not diagnosed. Getting the word out is going to be very important. That (genetic) test is what we all should consider … It was incredible timing because it was like, boom, we got the diagnosis in May of 2017, LUXTURNA was approved in December and she had her surgery in May 2018. The whole thing went from not moving at all to warp speed.”

Moms helping moms

Along the road to surgery, Christina received answers to her many questions from Beth Guardino of Patchogue, New York, mother of Christian, who underwent the same surgery during LUXTURNA’s 2013 clinical trials. (See Christian’s March 25, 2018, story on our website.)*

“I reached out to her,” Christina said after finding Beth’s story on Facebook. “She was to me who I was to Heather. I had a bazillion questions, so we were on the phone all the time. It’s so awesome … I just feel that all parents need that connection. It’s a scary thing to go through. There’s a lot of unknowns, and getting it from another mom is invaluable, the mom questions.

“From Beth talking to us before Ashlyn received LUXTURNA, to my conversations with several moms as their kids embarked on the same journey – it has been comforting to talk to another mom who has ‘been there, done that,’ to hear her son’s perspective, how she as a mom dealt, how much time and medicine was needed and just to talk about fear and feelings. She was a true blessing and made me more confident walking into such a big unknown.”

Four days after surgery, Christina’s family took a paddle boat ride. Ashlyn looked up at the sky and said, “Mom, what’s that?”

“It’s the sky, honey. That’s a cloud.”

“That’s a cloud?”

“Before she had no visual acuity to see fish or color in the tank,” Christina said. “She ran over to the tank. ‘I see the fish; I see a yellow fish and a pink fish.’ Things like that, that you don’t think about are huge for her.

“She didn’t realize that the toilet (water) swirls when you flush it. ‘Whoa. I thought it just made noise. It’s a swirl,’ her daughter realized.

“Now she walks so easily and runs. Now everything’s novel and exciting.”

Two little girls – one on the East Coast and one on the West Coast – ring in this New Year with something they’ve never had before – their vision.

Eight-year-old Hannah Reif of Maple Glen, PA, and 6-year-old Monroe Le of San Diego, CA, underwent breakthrough genetic therapy surgeries to fix a mutation in their RPE65 gene, which had caused a rare inherited retinal disease (IRD) called Leber congenital amaurosis (LCA).

Dr. Albert M. Maguire performed Hannah’s surgery at Children’s Hospital of Philadelphia (CHOP) in July. Dr. Aaron Nigel performed Monroe’s surgery at Children’s Hospital of Los Angeles (CHLA) in August.

Dr. Maguire is part of the married research team that brought the genetic therapy treatment developed by Spark Therapeutics called LUXTURNA™ to fruition. Dr. Jean Bennett and Dr. Maguire researched and conducted studies working with mice and dogs, and then humans in clinical trials. They developed the first genetic therapy treatment for LCA2 (RPE65), and the first treatment in the United States for any inherited disease. The U.S. Food and Drug Administration approved it in December 2017.

Hannah had a milder form of LCA, with night blindness and poor peripheral vision. Her mother, Amy, still marvels at the idea of genetic research focusing on her daughter’s gene mutation.

Using a syringe, Dr. Maguire injected under Hannah’s left retina a human-engineered virus containing a healthy version of the gene, which supplants the mutated gene. Within 24 hours of the July 10 surgery, Hannah had increased sensitivity to light; six days later, she could see the water line in her glass, rather than sticking her finger in the glass to feel for the water. On Day 7, she saw a star for the first time; six days later she underwent surgery on her right eye.

‘She can see’

Hannah can now see everything in her environment more easily and her visual acuity has improved from 20/200 to 20/100.

Shortly after surgery, Hannah flipped on her desk lamp and was so startled by the brightness that she began to cry. Now, Hannah says, “I don’t even remember what it was like before my surgery.”

Amy and her husband, Chris, revel in their little girl playing with her horse figurines in a dark room on a cloudy day, and they say her night vision has improved a thousand-fold.

“It’s just wonderful to watch her do things and see things. She’s not saying, ‘Hey, look what I’m doing.’ She just does it. She can see.”

Her mom said most recently, she’s just discovered the blue veins under her skin and the “H” and “C” on the bathtub faucets.

Her parents and others have noticed she’s more confident in school, in church and socially with her friends. Although she still needs some supports in place at school, Hannah’s doing great in her second-grade class.

On past Christmas mornings, she’d open a gift and have to be told what it was. Not this year!

Amy also recalled Hannah walking into their church sanctuary, brightly decorated for Christmas with ribbons, greens and flowers.

“As she walked through the doors, she looked around in amazement and said in a soft, sweet voice, ‘Wow!’ ”

‘Like night and day’

Kindergartener Monroe Le underwent surgery Aug. 14 on her left eye and a week later on her right eye.

“She’s like night and day,” said her mom, Heather.

Before surgery, Monroe’s vision was 20/300 for both eyes and now it’s 20/150.

So much has changed since 2012; Heather knew something was wrong with baby Monroe at 2 weeks when she looked toward the light rather than her.

“I remember crying and saying to my husband, ‘She’s blind. She’s blind,’ and he said, ‘She’s not’ … from 2 weeks until she was diagnosed, we were knocking on doctors’ doors.”

Heather was scared to have her daughter genetically tested, but she knew it would give her answers. Doctors diagnosed Monroe with LCA shortly after she turned 4; two months later she received her RPE65 genetic diagnosis.

“Oh, I’m so happy that I did it,” Heather said. “If I hadn’t gotten that test, Monroe wouldn’t have been a candidate for LUXTURNA.”

Her daughter received help to get up to speed with motor skills, and early on met a little girl named Penny, her forever friend, who has had difficulties with speech.

“They’re amazing, they love each other so much,” Heather said. “They complemented each other so well because Monroe would help her with the talking and Penny would help her with the seeing.”

Two days after her first surgery, Monroe insisted on being the one to retrieve a cap from an ointment tube dropped on the carpet. “She covered her non-surgerized eye and found it immediately.”

In school, Monroe no longer needs special lighting and doesn’t have to sit in the front of the room. “She even has been able to play four square.”

Monroe also sees her most favorite place in the world, Disneyland, and her most favorite attraction – Pirates of the Caribbean with Capt. Jack Sparrow – in a whole new light.

“There have been numerous times in a trip there where she asks me, ‘Mama is that new, or has it always been there and I’m just seeing it for the first time?’ ”

Heather and her husband, Bruce, see a much more confident little girl who no longer needs to hold hands in dim places.

“I can’t believe it’s the same girl who was so timid and afraid to let go of my hand,” she said. 

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.

This is the seventh 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.

MOUNT DORA, Fla. – Third grade tends to be one of those childhood times we remember with fondness. For Creed Pettit, his third year in elementary school marked the amazing and life-changing experience of dramatically improved vision through a breakthrough genetic therapy

Creed underwent surgery in March for a mutation in his RPE65 gene that caused a rare inherited retinal disease (IRD) called Leber congenital amaurosis (LCA).

Returning to school, the 9-year-old, from the Orlando suburb of Mount Dora, for the first time could see the words written on his classroom white board. Before surgery, he received most of his information up close from a computer monitor on a desk shared with his teacher.

Creed no longer needs special bright light bulbs to see. He navigates around Mount Dora Christian Academy more easily, although he still has help from his buddy, Michael, who’s been a human guiding light at school since they became friends in first grade.

Even more so, Creed is coming into his own, socializing more with classmates and feeling more confident about his classwork.

He is now joyfully celebrating his first summer with much better vision, or as he says, his first summer without LCA.

The young boy is one of the first patients to receive LUXTURNA™, a ground-breaking treatment developed by Spark Therapeutics. The surgery entailed injecting into his retinas a genetically engineered virus containing copies of a normal gene that pumps out a version of an enzyme needed for healthy vision. Dr. Audina Berrocal performed the surgery at Bascom Palmer Eye Institute in Miami.

Creed’s vision before surgery measured 20/200 in his right eye and 20/600 in the left. Now it is 20/40 and 20/100. A person with 20/600 vision sees something 20 feet away that a person with 20/20 vision would see 600 feet away.

Before the school year ended in June, Creed received his first-ever pair of prescription eyeglasses. As a toddler, he wore non-prescription glasses that looked like goggles to help with what doctors incorrectly diagnosed as a lack of depth perception.

His teal-framed glasses mark another milestone in his elementary school years at school, where teachers and staff showed understanding, patience and compassion with their new charge.

“What we did was give him a chance to be normal,” Principal Lori Hadley said. “He’s been a special and unexpected blessing, for sure.”

His first-grade teacher, Marissa Rapp, said Creed becoming part of her class presented a new experience for everyone. She put his desk next to a floor plug, so he could have his light ready to charge and made sure he had extra light in class. She avoided moving furniture, but when she did she would walk with Creed around the classroom to familiarize him with a new setup.

Mrs. Rapp characterized Creed as remarkable. She wasn’t sure whether he would enjoy one of the first events at school – the annual grandparents’ day program – because of the extra noise and more people.

“So, we tried to talk it up and make him excited about it. He had music all week, so he could learn the songs the kids had been working on. Once he got on stage and the music started, he sang and was so excited. He loved it. It was a very special moment to watch him and his grandmother in the front row.”

Back in first grade, Creed didn’t go on the annual field trip to Disney’s Animal Kingdom because it would have been difficult for him to see the animals.

This year, he told Mrs. Rapp all about the animals he saw at the Disney theme park.

“It is amazing to see all the things that he now gets to experience. I am blessed to have been a part of Creed’s journey and am excited to continue to watch him grow.”

In second grade, teacher Denita Snider accommodated Creed’s needs with bright lights, an extra storage bin for easy access to his supplies, larger fonts, special wide-lined paper and extra help. She realized Creed was an auditory learner and gave him explicit oral instruction and directions and checked for understanding.

She made sure Creed walked in the front of the line and he often held her hand as the hallways were dark and difficult to navigate.

Mrs. Snider also had Michael Hamburg in her class. Michael is a classmate with a big heart who took it upon himself in first grade to help Creed.

She said Michael is Creed’s buddy when they walked in line, sat at lunch, sat in chapel and went to the restroom.

“He helped Creed pack his backpack, find supplies he couldn’t see, you name it. Michael was always there to help. In fact, Michael was just awarded “Disney’s Dreamer and Doer” award at our awards day ceremony for all he has done for Creed in the last three years.”

Mrs. Snider tutored Creed this past school year, and since surgery he’s gradually learning he can do more things, such as see inside his desk, find stuff in his backpack, see the chair legs and go around them and see faces around him.

“He has been so used to not being able to see the little things we take for granted that he is now learning to really look at all the amazing things around him that he couldn’t see before. A whole new world has opened up for Creed.”

When third-grade teacher Faye Shyers learned Creed was going to be in her class, she accommodated him with brighter lights, a computer monitor and working closely with him.

“I wanted to make him as independent as he could be,” Mrs. Shyers said.

Before surgery, she said, Creed would stay at his desk and read during breaks in class.

“Since the surgery, he is actually getting up and being one of the guys.”

Mrs. Shyers, knowing one of Creed’s wishes after surgery was to see a rainbow, began a project in which each of his 15 classmates created an image of a rainbow, put the pictures together into a book called “Somewhere Over the Rainbow,” and presented it to Creed when he first came back to school.

“He looked at each and every one and made a comment about every one. “‘Oh wow, they put a lot of time into this,’” she recalled Creed saying.

Before the end of the school year, though, Creed’s wish came true. He reveled in seeing two rainbows so far, the latest with his mom and her fiancé from their front yard.

“Wow, that’s pretty,” he told his mom as he pointed to the spectrum in the sky.

Read Creed’s story

Life after LUXTURNA

Future so Bright, Need to Wear Shades!

Beginning to See the Light

Annnnnd We’re Off!

Ready, Set, Scheduled

The Road To Treatment

A revolutionary genetic treatment could improve the vision of 5-year-old Maverick Johnston, but his mom first wants to know more about the side effects and capabilities of the breakthrough drug called LUXTURNA™, developed by Spark Therapeutics.

Maverick, a kindergartener from Paso Robles, Calif., lives with Leber congenital amaurosis LCA RPE65 and enjoys a great quality of life, said his mom, 35-year-old Laurel Singletary-Johnston.

Laurel worries about LUXTURNA’s™ possible adverse effects, specifically citing any potential cataract development. She will continue to have doctors scan and check Maverick’s vision every six months, but she wants to review information about the drug’s longer-term effects before going forward with the treatment.

“Emotionally and mentally,” she said, “it’s going to have to be my decision. What if we give him this window of what he can potentially see, and then what?…

“In the grand scheme of things, he’s really healthy and that’s really important to me. His quality of life is so amazing, and we really don’t have a lot to complain about,” she said. “It’s scary to go through a procedure that’s so new.”

While she has reservations about LUXTURNA™, Laurel connected with Dr. Aaron Nagiel of Children’s Hospital Los Angeles on Feb. 28 – National Rare Disease Day. She and Maverick consulted with Dr. Nagiel to be on track to potentially receive the gene therapy treatment after evaluating the three-year results of the drug’s clinical trials.

Patients in Spark’s Phase 3 clinical trials are being followed from the time of their initial treatment to 15 years out to determine the efficacy, durability and safety of LUXTURNA™.

Monique da Silva, head of Corporate Communications for Spark Therapeutics, said the data have been presented at multiple medical meetings since November 2017 and that the three-year-safety data were submitted to the Food and Drug Administration in the fall of 2017.

In December 2017, the FDA approved LUXTURNA™ and doctors performed their first surgeries during the week of March 19, including that of 9-year-old Creed Pettit of Mount Dora, Fla., at Miami’s Bascom Palmer Eye Institute. Treatment with LUXTURNA™ entails injecting a human-engineered virus containing copies of a normal gene so that the cells can express a protein the retina needs to convert light into vision-enabling signals sent to the brain.

In California, Maverick is blossoming in kindergarten, and while he rides his bike and can hit a ball off a tee, he’s found his perfect sport: Swimming – spring, summer and fall, two days a week.

“He loves his Speedo,” his mom said. “He is such a good swimmer and there’s a big black line at the bottom that he can follow.”

Laurel and her husband, Jason, a 36-year-old Army retiree working with the National Guard, do not let their son use his level of vision as an excuse not to do something. Maverick uses a headlamp to find toys that fall under the table, flashlights are all over the house, and his home is filled with bright lights.

She feels the family doesn’t have to make a rash decision.

“I don’t feel bad about my decision. You have to trust your mom-gut. Right now, I just feel this is the right decision for my family.”

A rough road to LCA diagnosis

Getting to this point for Maverick, his mom, his dad, and little sister, 3-year-old Dagny, has been more than a rough road.

Laurel had an otherwise uneventful pregnancy with Maverick, but during delivery experienced extreme difficulty. She said it was strange, because they checked out of the hospital fine, but Maverick had a very wide-eyed, blank stare and would not let anyone hold him except her.

His first pediatrician diagnosed Maverick as autistic at 2 months old.

“She told me he had autism and I’m not a doctor, but I knew that was crazy.”

The next doctor told her to get Maverick’s eyes checked. She took him to a well-known ophthalmologist where Maverick did well tracking a toy, until Laurel mentioned that he could track it because it jingled, not because he could see it.

When her son was about 4 months old, she was told: “There’s really nothing we can do but follow his progress to see if anything improves.”

The day before his third birthday, Maverick was diagnosed with nystagmus, or involuntary eye movement, which Laurel also had noticed.

Then the doctor told her that Maverick had a brain tumor, despite already having had an MRI for a sacral dimple.

“Brain tumor?! … I was literally losing my mind,” she said.

A second MRI showed no brain tumor.

In between all of this, she said, “It was every optical diagnosis you could imagine, detached optical nerves, visual maturation delay and 50 other eye diagnoses they tried to give us.”

Maverick at 3 years old saw Dr. Mark Borchert of Children’s Hospital Los Angeles and he recommended an electroretinogram (ERG), which produced the doctor’s suspected diagnosis: LCA, a rare inherited retinal disease (IRD).

Maverick then received a genetic diagnosis of LCA RPE65, but only after his parents paid $3,000 for the test. A neurologist later wrote on Laurel’s behalf to a community non-profit organization in nearby San Luis Obispo called Jack’s Helping Hand, which reimbursed most of the cost.

Being a self-advocate

Even early interventionists had few answers and a visual therapist didn’t seem to challenge Maverick to move him along.  

Laurel asked what she could do and was told: “Wait until he gets into school and see how much he struggles.”

“It felt like, in a way, we were brushed under the rug. I had to beg for him to have a cane. I had to beg to have someone show him how to use a cane.”

“He’s 65 pounds right now and I still carry him” in crowds because he can’t navigate through movement around him.

“People think he’s playing chicken with them and think he’s a disrespectful little kid when in reality he is so kind and has the best heart. The lack of patience, understanding and compassion among the general public is sad. We’re just trying to enjoy our lives like everyone else.”

Finally, about a year ago, a supervisor of the home-visiting visual therapist intervened and determined Maverick should have begun therapy when he was 2. He received more intensive attention before starting in kindergarten last fall and now receives in-school therapy twice a week.

Through all of this, Maverick has played and learned like other kids.

Then came December 19, 2017, the day the FDA approved LUXTURNA™, the ground-breaking genetic therapy treatment for people with a mutation of their RPE65 gene. It is also the first drug in the United States to treat an inherited disease.

“I never posted one single thing on my Facebook page (about Maverick’s LCA) until that day because I never wanted someone to feel sorry. On that day I posted it because I had something positive to share.”

She didn’t want to hear, “ ‘Oh, my God, I don’t know how you do it.’ My answer is yes you can, you do not have a choice. I was really meant in my heart to be Maverick’s mom; I don’t ever put him in a situation where he can fail. I put him in situations where he can succeed.

“I really hate the judgment and I hate all the things that he has to go through. I wish he could drive and have 100 percent independence like every other kid, but I really believe he’s going to have a happy, fulfilled and successful life.”

Laurel’s advice to other parents of children with LCA is persistence.

“You have to be their advocate. You are the Number One person to advocate for them until you can have peace with what’s happening. Without hope, you have nothing.”

And what has helped Laurel hang on to hope while navigating the maze of doctors and diagnoses, opinions and judgments? One little quote:

“The key to success is playing the hand you were dealt like it was the hand you wanted.”

This is the sixth 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’s life has been filled with lots of firsts these days as she watches her little boy literally see his world in a brighter light.

Before retinal surgery with LUXTURNA™, a ground-breaking, gene-therapy treatment, 9-year-old Creed needed very bright lights to see; post-surgery, he can see into a dark box, read books and discern crisper details in standard lighting.

One of the most unexpected differences to Sarah after her son’s surgery is his state of mind.

“I’m surprised at how much more relaxed he is,” the mom from Mount Dora., Fla., said. “That’s the biggest difference to me.”

Creed never was hyperactive, but his sense of relief and calm manifested as an unforeseen result of his revolutionary eye surgery.

“I think he’s relieved because the surgery is over and because now he can see,” she said. “He’s not so nervous about everything.”

Doctors diagnosed Creed with Leber congenital amaurosis (LCA) caused by a mutation in his RPE65 gene when he was nearing 3 years old in 2011 – the same time scientists at Spark Therapeutics worked to research and develop the innovative gene therapy that came to market as LUXTURNA™ in December.

The new drug is an injectable, human-engineered virus with copies of RPE65 to prompt the creation of more RPE65.

Creed’s surgery last month went well, though he had his issues with sticky things, even though he and his mother practiced at home with special tape from the doctor to get him used to the bandage he’d need over his eye afterward. He did well with the first patch because he mostly slept before it came off, 24 hours after surgery. The second wasn’t so easy. Creed didn’t sleep and obsessed about the patch, so taking it off was hard.

“As soon as it was off, he was happy. Everything was good again. He was ready to go.”

Wednesday marked a milestone after Creed’s surgery, reaching what doctors call the 30-day peak, meaning 30 days after surgery on Creed’s right eye, his vision will have improved as much as it is going to from the treatment.

Creed met with Dr. Christine Kay of Vitreo Retinal Associates in Gainesville, Fla., Thursday to check his vision at this 30-day point. On Monday, which will be about a month from surgery on his left eye, he is scheduled to meet with Dr. Audina Berracol, his surgeon at Miami’s Bascom Palmer Eye Institute.

As Sarah awaits medical word on Creed’s level of vision improvement, she sees signs of great progress every day.

He no longer needs help keeping the handlebars straight when he rides his three-wheeled bicycle.

“He was so excited. He did awesome, looking right at me, smiling, and I’m thinking, oh my god, he’s gotta slow down.”

Creed also climbed onto to the wheel well of a boat trailer to get into a powerboat before settling in on a cushion to read and draw. Would he have ever done that before? “Heck, no,” Sarah said. “No way.”

Since he’s gotten back from Miami, Creed’s also gone to his favorite restaurant, Mount Dora Pizza, where he ate six, count ’em, six, meatballs.

He went back to school at Mount Dora Christian Academy on April 10th.

“He’s doing so good,” his mom said. “He’s right back into chorus. He didn’t want to miss chorus.”

Creed brought his usual lunch – peanut butter and jelly, a bag of cereal, a granola bar and three cookies. He was particularly impressed at lunchtime, though, when he clearly saw for the first time all the food choices in the cafeteria. While he still prefers to bring lunch, he realized students could get two side orders, rather than just one, with their main meal.

That first day back, as she does every school day, Sarah left a note in Creed’s lunch bag, telling him to have an awesome day, not to forget to do eyedrops after lunch and to wash his hands a lot to keep germs out of his eyes.

When she asked him how his first day back was, she said, “Typical Creed. ‘It was good.’”

Then he remembered something any third-grader would want their mom to know: “I saw a kid throw up.”

“A kid who’s sick,” Sarah mused. “This is what I get; I was expecting all these great things.”

The next day when she accompanied her son to school, Creed’s teacher, Mrs. Shyers, handed over a big box filled with all the lamps and bright bulbs that Sarah brought to school for her son to see better in the classroom, long before his surgery.

“He doesn’t need these,” Mrs. Shyers told Creed’s mom.

Read Creed’s story

Future so Bright, Need to Wear Shades!

Beginning to See the Light

Annnnnd We’re Off!

Ready, Set, Scheduled

The Road To Treatment