New Patient Services Program Helps People Navigate Their Road To A Cure

Now that LUXTURNA™ has come to market as a revolutionary vision-restoring genetic treatment, how does it get to patients?

The answer to that question and many others can be found within a new patient services program developed by LUXTURNA™ creator Spark Therapeutics. The newly approved injectable drug treats people with the RPE65 gene mutation that causes Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP), both of which are inherited retinal diseases (IRDs).

The program is called Spark Therapeutics Generation Patient Services and it is being used by RPE65 patients who underwent surgery with LUXTURNA™ and those who are preparing for treatment. Spark launched the breakthrough drug commercially in March, three months after it received approval from the U.S. Food and Drug Administration.

Spark Therapeutics Generation Patient Services provides each patient with a two-person team to help

navigate insurance coverage and connect them to financial assistance resources as they are needed, said Patient Services Lead Sarah Derewitz.

“We partner with them to help set their expectations along the way because it’s a long and potentially confusing journey,” she said.

Patient Services is dedicated to communicating with patients in the best way for everyone, which means via Language Line interpreters if their primary language is not English, via mail if they don’t use a computer, in person, by text, by email or by telephone.

“Whatever works,” she said.

Sarah St. Pierre Pettit, whose 9-year-old son Creed underwent surgery on both eyes with LUXTURNA™ last month, said she has talked with and emailed questions to the Patient Services people at Spark since January.

Sarah, from Mount Dora, Fla., said her Spark team answered a full range of questions, including those that stemmed from her simply being a nervous mom, worried about her son. No matter what the topic, Sarah noted, Spark always responded quickly.

Amy Reif, whose 7-year-old Hannah is on track for LUXTURNA™ treatment this summer, also started talking with Spark in January. Amy, from Maple Glen, Penn., said Spark hooked her up with a team to help with insurance coverage, available financial assistance and treatment centers.

Derewitz characterized the Patient Services team as “logistical, supportive, proactive and expectation-setting.”

Patient Services is committed to answering any non-medical questions that come their way. She said patients with medical questions are referred to their doctors for answers.

One member of the team is a Patient Access Specialist, the patient’s first point of contact who works in Spark Therapeutic offices and stays in touch by phone or by email.

Spark Therapeutics Patient Access Liaison Lee Liberator

The other team member is a Patient Access Liaison, and as liaison Lee Liberator said of the title’s acronym, PAL, “We try to be a resource.”

“Our driving interest and desire is to have patients reach out to us when they have questions,” she said. “And because of how rare this disease is, we just want to make sure they have access to the tools and information available.”

Liberator is inspired by patients’ life stories and works to alleviate any stress or confusion patients might encounter. She works as a source of in-person support when you need it.

You’ll find more information about her and other liaisons and specialists on the Spark Therapeutics Generation Patient Services website www.mysparkgeneration.com.

As the website says, the goal of Spark’s Patient Services is to be your partner and to help you through your experience. It is voluntary and participating or not taking part in the program does not affect your eligibility for treatment or the nature of your treatment or care.

Genetic diagnosis required

While enrolling in the program is not required to receive LUXTURNA™ treatment, Spark encourages patients to take advantage of the free service.

What is required for program enrollment is a confirmed genetic diagnosis of a mutation in both copies of the RPE65 gene. Humans have two copies of every gene, one from each parent, so each person has two copies of the RPE65 gene.

To learn more about getting genetically tested, go to https://luxturna.com/about-luxturna/#who-luxturna-is-for.

If you already have been genetically diagnosed, fill out an enrollment form available on the www.mysparkgeneration.com website. This allows Spark to enroll you in the program, investigate insurance and schedule a treatment center consultation.

If you already are connected with a treatment center, you will need to have a treatment center specialist fill out a Statement of Medical Necessity (SMN) for you. An SMN confirms eligibility to receive treatment and begins the investigation into insurance benefits.

If you are not connected with a treatment center, this is where your team comes into play to discuss options and insurance requirements to schedule a consultation at treatment center to confirm your eligibility. If eligible, the center specialist will fill out an SMN confirming eligibility and start looking into insurance benefits.

People interested in Spark’s patient services program also can call toll free 1-833-SPARK-PS (1-833-772-7577) between 8:30 a.m.-6:30 p.m. ET, Monday through Friday. Services are confidential and free.

You also can send an email to: mysparkgeneration@sparktx.com

College Connection: Making A Successful Transition To College

Starting high school or going off to college is not easy; new people, classes and sometimes even a new city makes for a stressful transition. Doing it all with a vision impairment adds some additional complexity. I am going to share with you my experience of moving to college with a vision impairment. Hopefully you can learn from my experiences and apply it to your own life.

Four years ago I knew that I wanted to attend Wilfrid Laurier University. When I received my acceptance letter I immediately started to plan, which proved to be incredibly important. I was able to connect with various people at the university: getting a larger dorm room at no additional cost to accommodate my guide dog, speaking with the Accessible Learning Center to arrange exam accommodations (I write my exams on a computer in a private room), and connecting with professors before classes started.

Jack McCormick and his guide dog Jake, center, at a recent “Eye To Eye” event Jack organized at his college. On the left is Dr. Penny Hartin, CEO of the World Blind Union, the guest speaker at the event.

For someone with vision loss it can be challenging to navigate a new place and college campuses are no different. It is so important to learn the layout of your college before move in day because I am telling you, you won’t have time during frosh week and you will want to know where your classes are before they start. There are a lot of benefits to knowing the layout of your campus beyond being able to find your classes and places to eat.

If you know where things are better than the people on your floor, then you can help them find their classes. It’s a good way to get to know people and show them that you don’t let your vision loss stand in your way.
Getting involved with campus organizations is a great way to have some fun and get to know like-minded people. These organizations aren’t going to meet in the same places as your classes. So you need to be able to find them or you are going to miss out on one of the best parts of college life!

“So, Jack, I’ve planned and learned the layout of campus. What about the first day? How do I make friends? I am worried that people will judge me because of my vision impairment.”

Remember that all people are nervous during their first days of college. You are not alone!
Own your vision impairment, tell people about it and be open to answering questions (you will get some dumb ones). This eliminates any awkwardness that people may have about your vision loss and soon you will find a great group of friends!

I hope this helps as you move away to college!

Jack McCormick is a 21-year-old honors business student at Canada’s Wilfrid Laurier University in Waterloo. Jack was diagnosed in high school with Leber congenital amaurosis due to mutations in the RPE65 gene. He is a Hope in Focus (formally Sofia Sees Hope) ambassador, helping people living with LCA and IRDs. Read his blog at jackdamccormick.wordpress.com

His Future’s So Bright, He’s Gotta Wear Shades

This is the fifth 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.

Life looks a lot brighter for Creed Pettit, the Florida boy who just became one of the first LCA-RPE65 patients to have eye surgery using the brand-new gene therapy treatment LUXTURNA™.

For the very first time, Creed built the entire track of his wooden train set, and he did it in the garage rather than in the house with all the lights on.

“He played with it for over two hours,” said his mom, Sarah St. Pierre Pettit. “He played with it like a kid should play with it.”

Before the surgery, Creed and his mom would have what she called “taught play,” with her little boy doing only what he was taught or told.

“All of a sudden, he was playing with these things, interactive play, putting doors on the train, making the bridges of the train set.”

Even digging into the box with the train-set pieces is a new experience. Before, Creed wouldn’t look in the box because it was dark, and he couldn’t see anything. Now, he’s looking into the box and pulling out curved pieces of track.

Creed is back home in Mount Dora, Fla., from having his second surgery, this time on his left eye, on March 28 at Bascom Palmer Eye Institute in Miami.

He and his family came home to a house decorated by friends with streamers, balloons and a big home-made sign that said, “Welcome Home Creed.”

Creed is one of a handful of the first LCA-RPE65 patients to receive the genetic therapy treatment LUXTURNA™ developed by Spark Therapeutics.

The U.S. Food and Drug Administration granted approval of the revolutionary drug in December. Soon after, preparations began for administering the treatment to the first patients the week of March 19. The surgery entails injecting under the retina a human-engineered virus containing copies of a normal gene, prompting the making of more RPE65.

As Creed came into the operating room last week, he heard “I’ll Be There For You,” coming from the speakers; it’s the theme song from the television show “Friends,” and the same song Creed and his mom – and the whole surgical team – sang while waiting out a short delay before his first eye surgery.

After performing surgery on his right eye on March 21, Dr. Audina M. Berracol found new growth in the eye’s photoreceptor. Creed will return to Miami on Monday for high-resolution scanning, called Optical Coherence Tomography, (OCT) on his left eye.

Back at home using just basic lighting, Creed reads “Diary of a Wimpy Kid.” And he looks down at his food now.

“It’s really, really neat,” Sarah said. “Every day has just shocked me.”

He watched “Peanuts,” one of his favorite shows, and then went on a long walk.

“It’s just so cool to watch him. He has his sunglasses on, he’ll just stare, looking at different trees, touching them.”

No more flashlights, either. Years ago, Creed’s mom outfitted their home with bright lights and lots of flashlights, so he could see things if they dropped under the table.

The third-grader also stopped by his school to see his friends and he kept looking at the designs on the floor and asking people what they were eating.

“It’s a hamburger,” his mom said. “It’s almost like teaching a toddler all these things.”

Speaking of school, after Creed returns from Miami for his follow-up appointment on Monday, he goes back to school Tuesday and plans to wear a new T-shirt, much to his mother’s chagrin.

Sarah wanted to buy Creed something special to celebrate the success of the surgeries and his new-found look on life. She wanted to buy him a watch or something cool at one of the popular stores.

“Look, here’s a neon one,” she said, pointing to a big watch. “Anything you want.”

Instead, he picked out a shirt with words on it, “totally not something I’d ever buy,” Sarah said. The shirt says, “I was going to do my homework, but my hands are full,” and shows an image of two hands holding a game console.

She thinks he picked it out because he could read the letters.

“He’s never gotten in trouble (at school). He thought it was hilarious that it said that.”

Sarah said she was thankful that her mom and her fiancée accompanied her and Creed to Miami and helped keep her calm after waiting nine years for Creed’s treatment come to fruition.

“I think I cried harder on the second one,” Sarah said after this latest surgery.

“Oh my gosh! It’s done! We’re done! We beat this! We never stopped fighting and look where we are now.”

Read Creed’s story

Beginning to See the Light

Annnnnd We’re Off!

Ready, Set, Scheduled

The Road To Treatment

Post-Surgery: Beginning to See the Light

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™.

Dr. Audina M. Berracol of Miami’s Bascom Palmer Eye Institute performed this surgery on Creed’s eye, as she did a week ago on his right eye.

Creed in a hospital bed with an eye patch on his left eye — 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.

Preparation for Creed’s treatment came shortly after LUXTURNA™, developed by Spark Therapeutics, received Food and Drug Administration approval in December and around the time of Creed’s 9th birthday in January.

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.”

After Luxturna™ Treatment: ‘Mom, Pop, is that you sitting there?’

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.

LUXTURNA™ is the first gene therapy for people with Leber congenital amaurosis (LCA), a rare inherited retinal disease (IRD), with an RPE65 gene mutation.

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 a hospital gown crossing his fingers — 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.

Living Without LCA: ‘Andddddd we’re off”

“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.

Good luck, buddy!!

Read Creed’s story

Ready, Set, Scheduled. Florida Boy Will Receive Gene Therapy Treatment to Reverse Vision Loss

Curing Blindness: The Road To Treatment With LUXTURNA™

Misty Lovelace: ‘I Can See Little Things’

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.

It was 11 years after her first diagnosis that doctors determined she had Leber congenital amaurosis (LCA), a rare inherited retinal disease (IRD).

“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.”

Diagnosis: LCA-RPE65

Dr. Robert A. Sisk of Cincinnati Children’s Hospital Medical Center did find the right problem and he sent a sample of Misty’s blood off to Children’s Hospital of Philadelphia, where she was genetically diagnosed with LCA-RPE65.

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.”

Ready, Set, Scheduled. Florida Boy Will Receive Gene Therapy Treatment to Reverse Vision Loss

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.

Creed Pettit holding his “surgery scheduled” paperwork with a big smile on his face — 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.

Creed and the doctor reading black book — 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.”

On Rare Disease Day, Shining A Light

Lisa Kurec never heard of the National Organization for Rare Disorders (NORD) until Wednesday, but after many years of finding no answers for her son’s rare disease, she decided to attend NORD’s Rare Disease Day event in Hartford at the Legislative Office Building. She joined patients, families, caregivers, medical professionals, industry representatives and legislators, all gathered on Rare Disease Day to help shine a light on these conditions.

Over the years Kurec, of Middletown, took her son to 25 doctors, all unable to determine why he suffered from painful ulcers throughout his body. Some symptoms were even attributed to age-appropriate conditions, such as acne.

She finally took him to a dentist, who sent him to the emergency room, where he was referred to an infectious disease doctor. By 2014, her now 26-year-old son was diagnosed with Behcet’s disease (pronounced beh-CHETS), a rare disorder that causes blood vessel inflammation throughout the body. Signs and symptoms seem unrelated at first, and include mouth sores, eye inflammation, skin rashes and lesions, and genital sores.

At Wednesday’s event, hosted by NORD, the official sponsor of Rare Disease Day in the United States, and NORD’s Connecticut Rare Action Network, Kurec immediately learned about NORD’s Patient Assistance programs and much more to help her find support for her son.

NORD President Peter Saltonstall told the gathering of about 120 people that there are about 7,000 rare diseases, with fewer than 500 having FDA-approved therapies; that leaves 95 percent of patients with no available treatment.

“There’s still a lot of work to be done,” he said, adding, “NORD is the voice for the rare disease patient.” Thirty million Americans have rare diseases, including 300,000 in Connecticut.

He noted that NORD receives more than a million hits monthly on its website from people looking for help and said Rare Disease Day is the one day people come together globally to close the gap between the number of rare diseases and the number of available treatments.

NORD has more than 260 member organizations, including Hope in Focus (formally Sofia Sees Hope), which unite to promote patient and caregiver advocacy, and research for treatment and cures for those with rare diseases.

Speakers at Wednesday’s event promoted Connecticut as a good place for investment in research and development in creating new treatments, and for job opportunities and economic growth. They reached out to legislators, asking them to keep in mind tax incentives and other ways of encouraging the business of research in the state.

Legislators attending included Republican State Sen. Len Fasano, who said, “In this building, people care. Republicans and Democrats care. This is not a Republican or Democrat issue.”

He introduced Hunter Pageau, an articulate 7th grader who is one of 80 people in the world with Spinal Muscular Atrophy with Respiratory Distress or SMARD.

Hunter said he founded a new group called Youth Empowerment Society or YES, and he told the gathering, “While a disease may be rare, hope never should be.”

Democratic State Rep. Joe Aresimowicz, Speaker of the House, said rare disease advocacy and research needs “money and legislation to fully understand what is going on.”

“We genuinely care,” he said. “We want to be helpful.”

The Speaker introduced Greta Stifel, who has a rare cancer called neuroendocrine tumor carcinoid cancer (NET).

She told the group, “We have a set of struggles that other patients don’t have.”

She directed people to #RareLivesMatter and said, “We do matter. We need more funding, more visibility.”

Dr. Mridu Gulati, a pulmonary disorder specialist at Yale School of Medicine and chair of the Connecticut General Assembly’s Task Force to Study Rare Diseases , thanked the many, many legislators, medical experts and rare disease advocates that she and task force members have met with since February 2016.

She said the group plans to hold more meetings examining rare disease research, diagnoses, treatment and education, and the task force will make recommendations for creating a permanent group of experts to advise Connecticut’s Department of Public Health on rare diseases.

‘We know how important it is to know your gene. We’ve lived it.’

It took more than seven years to get a genetic diagnosis for our daughter. During that time, doctors were pretty sure she had LCA, although we also heard that maybe she had cone-rod dystrophy or perhaps Stargardt’s Syndrome. We argued with insurance over genetic testing, paid out-of-pocket, took time off work and school for trips out of state and sent blood work all over. Still, no one could give us a genetic diagnosis. Some labs never even bothered to return phone calls to tell us if they had any results.

And then things changed. More genes had been identified and there were new and better ways of genetically diagnosing IRDs. Finally, in 2013, I we received a confirmed diagnosis for Sofia.

Flash forward another five years to today and there are even more changes. While many aspects of obtaining a genetic diagnosis are still challenging, thanks to continued research, increased awareness, and accessible testing programs, it’s no longer a seven-year ordeal. Patients can get tested today without incurring travel expense and are much more likely to receive a confirmed genetic diagnosis.

Thanks to donations to our organization, we have been able to support accessible genetic testing for families. Thanks to our donors and supporters, we are also able to provide outreach and education to families, driving awareness and access for genetic testing and encouraging participation in natural history studies and patient registries.

Our awareness campaign this year is Know Your Gene: Get Tested, Get Connected. Knowledge is power and we are helping more families get tested so they can receive their genetic diagnosis and then connect in ways that will accelerate research for treatments and cures for IRDs. We want to stress the importance of connecting to a patient registry or a genetic counselor. We want to help families and individuals find each other for support and sharing of information. And we are driving those programs and communications that will continue to advance cures for blindness.

We know how important it is to know your gene. We’ve lived it.