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.

Living with LCA: ‘Then All Our Dreams Were Realized’

Hannah Reif, 7, will be treated with LUXTURNA™ at Children’s Hospital of Philadelphia (CHOP) to cure her blindness caused by LCA-RPE65.

Amy Reif still can’t hold back tears when she recounts first hearing that a ground-breaking genetic-therapy treatment targeting her daughter’s LCA-RPE65 gene officially received approval.

Amy knew in October that the Food and Drug Administration was holding a meeting about LUXTURNA™, a gene therapy developed by Spark Therapeutics, and felt hopeful for a cure for her 7-year-old, Hannah’s vision loss.

“We didn’t actually realize there was a vote on it at the end, and it received unanimous support,” she recalled. She wondered, “Is this it?”

Hannah, center, with her mom Amy, dad Christopher and brothers Jacob and Matthew, standing in front of a giant bald eagle statue.

In October the FDA’s Cellular, Tissue and Gene Therapies Committee heard testimony, including that of Laura Manfre, co-founder and board chair of Sofia Sees Hope.

The committee voted unanimously to recommend approval of the breakthrough drug.

“Then we realized it was a good next step in the process,” Amy said. “Then when the FDA approval actually happened in December – I can’t even talk about it without crying – we just had so much hope for seven years and all of a sudden all of our dreams were realized,” she said through her tears. “And it was just incredible.”

Amy, a 41-year-old mother of three living in Maple Glen, PA, with her husband, Christopher, still marvels at the idea that the genetic research focused on the same gene mutation as her daughter’s.

“What were the chances that was going to be her gene? It was just amazing.”

The first-grader will be treated with LUXTURNA™ at Children’s Hospital of Philadelphia (CHOP), where Jean Bennett, M.D., Ph.D., and Albert M. Maguire, M.D., researched and conducted studies, working with mice and dogs, resulting in this extraordinary gene therapy. LUXTURNA™ is the first genetic therapy treatment for LCA-RPE65, and it is the first treatment in the United States for any inherited disease.

Hannah and her family are serendipitously located 45 minutes from CHOP. Hannah has been seen by Dr. Maguire, the principal investigator for the clinical trials that led to the approval of LUXTURNA™ .

“We didn’t have to search far and wide,” Amy said.

Treatment likely this summer

The family met Feb. 12 with Bart P. Leroy, M.D., Ph.D., for their first appointment at CHOP to get ready for surgery, which probably will happen this summer. Dr. Leroy is director of Ophthalmic Genetics and Retinal Degenerations clinics in the Division of Ophthalmology and Center for Cellular and Molecular Therapeutics.

They discussed the surgery and took more photographs of Hannah’s eyes. They’re waiting to be scheduled for their next appointment.

Doctors told Amy that Hannah has one of the milder forms of LCA. She has night blindness that extends to any dimly-lit area any time of the day. She also has poor peripheral vision.

An ophthalmologist who saw Hannah at 2 months old suggested LCA as the possible cause of her visual impairment and sent her to CHOP for an electroretinogram (ERG).

At age 3 at CHOP, Hannah attempted to do simple tasks as part of getting into clinical trials, but she was too young, and the testing was difficult and upsetting. Two years later when they went back for their next ophthalmology appointment at CHOP, the trials were winding down.

“Had we had the opportunity to be in the trial, we would have, but it just didn’t work out.”

Over the last seven years, the family has raised more than $20,000 for Foundation Fighting Blindness through VisionWalk.

Spark’s patient assistance program

For help with the insurance process for Hannah’s surgery, Amy called Spark Therapeutics in January on the recommendation of other moms of children with LCA-RPE65. She said Spark is working with her insurance company on the $850,000 cost to treat both of Hannah’s eyes. The company has established Spark Therapeutics Generation Patient Services™ to support commercially insured patients and caregivers through the treatment experience and help them navigate insurance issues.

Amid all this preparation, Amy said she doesn’t know that Hannah has fully grasped what is going to happen.

“She knows that she’s going to see better, but I’m not sure at age 7 if she knows what that means. She knows that she can’t see stars and rainbows like other people can. At this point, we haven’t talked a lot about it because summer is several months away.

“She is very scared.”

Amy said her daughter had surgery for a lazy eye and still remembers having a hard time coming out of anesthesia and her eyes being crusty.

“She’s excited about the surgery, but she’s afraid she’s going to have crusty eyes. It doesn’t seem like a big deal to us, but for her it is.”

For now, though, Hannah’s enjoying life like any other kid. She attends regular first-grade classes and loves to play with her friends and with Barbies. She especially loves riding her scooter.

“The principal will be outside to meet the kids in the morning and he just sees her flying down the sidewalk on her scooter, and they know my child is visually impaired and they just can’t believe it.”

Hannah in red jacket with pink helmet riding her pink scooter.

CT Rare Disease Day: Patients Must Be Advocates

On Rare Disease Day – Wednesday, February 28 – doctors, researchers, advocates, patients, caregivers, industry representatives and legislators will come together in Connecticut and around the globe to focus on the critical role patients play in understanding rare diseases and in developing innovative treatments and cures.

Research is the 2018 theme for Rare Disease Day, and this year’s slogan is “Patients are not only subjects but proactive actors in research.” Nearly 7,000 diseases are considered rare in the United States and about 300,000 people in Connecticut have a rare disease.

Hosted by the National Organization for Rare Disorders (NORD) and the NORD’s Connecticut Rare Action Network, Rare Disease Day will be celebrated on the last day of February from 8:30 to 10:30 a.m. in the 2nd Floor Atrium of the Legislative Office Building, 300 Capitol Ave., Hartford.

The event, held nationally and in more than 85 countries, serves as an opportunity to hear from the many voices of those dealing with rare diseases and the daily challenges patients and their families face in Connecticut.

NORD President Pete Saltonstall and a bi-partisan team of Connecticut General Assembly (CGA) members will open the event. The governor is expected to honor the day with an official proclamation.

Dr. Mridu Gulati, a pulmonary disorder specialist at Yale School of Medicine and chair of the CGA’s Task Force to Study Rare Diseases, will report on the group’s findings. The task force, created in 2015 under Public Act 15-242, comprises legislators, medical experts and rare disease advocates. It is charged with examining rare disease research, diagnoses, treatment and education. The group also makes recommendations for creating a permanent group of experts to advise Connecticut’s Department of Public Health on rare diseases.

Also, within the legislative session, Jean Kelley, whose son has X-linked Adrenoleukodystrophy, will give an update on ALD and newborn screening.

Speaking on behalf of research will be: Dr. Emily Germain-Lee of Connecticut Children’s Medical Center and University of Connecticut, Albright Syndrome; Stormy Chamberlain, Ph.D., of University of Connecticut, Angelman’s Syndrome and Prader Willi; and Dr. Thomas Carpenter of Yale, X-linked Hypophosphatemia.

Event organizer Lesley Bennett said discussion is open to other rare diseases, such as Leber congenital amaurosis and other rare inherited retinal diseases. Advocates could add their concerns in the patient-issues portion of the event, which includes legislators and rare disease patients.

A five-member business panel will help inform the CGA about patient organizations in our state, patient participation in clinical trials and helping to fund research to develop therapies for rare disorders.

Bennett is part of NORD’s Rare Action Network and she is Connecticut’s Volunteer State Ambassador. For more information, please email her at Lesley.bennett@rareaction.org

Curing Blindness: The Road To Treatment With LUXTURNA™

This is the first in a series following the progress of Creed Pettit, a 9-year-old Florida third-grader, who is a candidate for the breakthrough gene-therapy drug called LUXTURNA™, approved as the first gene therapy for Leber congenital amaurosis (LCA), and as the first-ever genetic therapy in the United States for an inherited disease.

A birthday wish for 9-year-old Creed Pettit, diagnosed with LCA-RPE65, comes closer than ever to coming true today when the Florida boy and his mom meet with a surgeon to schedule treatment with LUXTURNA™, the just-approved, revolutionary gene therapy that corrects his specific gene mutation.

Creed smiling and holding up a piece of paper that writes, "My last birthday with LCA! #RPE65 #CREED — Creed, LCA2 *RPE65*

Creed had wished that his January 9th birthday would mark his very last with LCA-RPE65.

This third time might truly be the charm for Creed, as his mom, 41-year-old Sarah St. Pierre-Pettit of Mount Dora, Fla., twice tried to get her son, at ages 3 and 4, into clinical gene-therapy trials in Iowa. He was not approved for the trial because he could not perform steps required by the study, such as trying to navigate a maze.

Sarah learned a few days ago that her insurance company gave the go-ahead to schedule the surgery that costs $850,000.

“No more hurdles,” she wrote in an email. “I am a wreck of happy tears!!!”

Sarah and her son drove to Miami’s Bascom Palmer Eye Institute to meet today with Dr. Audina Berrocal to discuss the procedure and answer questions.

Brand new treatment

It was last October when decades of research culminated in a Food and Drug Administration advisory committee hearing in which the group recommended approval of LUXTURNA™, Spark Therapeutics’ breakthrough gene-therapy treatment.

“One of the doctors spoke about my son in the FDA approval process, which was just amazing,” Sarah said. “That day I knew Creed could be treated.”

Creed and his mom Sarah sitting on steps. — Creed and his mom, Sarah St. Pierre-Pettit of Mount Dora, Fla. Creed meets with his surgeon Feb. 19 to schedule his treatment with LUXTURNA to reverse his blindness caused by LCA-RPE65.

Hope in Focus (formally Sofia Sees Hope) founder and board chair Laura Manfre also counted among those speaking on behalf of this ground-breaking treatment, sharing with the committee a story of a woman whose vision greatly improved in the clinical trials and changed her life.

The FDA granted approval of the treatment in December, paving the way for patients like Creed with LCA-RPE65 to receive, LUXTURNA™, the first genetic therapy treatment for an inherited retinal disease (IRD), and the first genetic therapy in the United States created for any inherited disease.

RPE65 is a form of Leber congenital amaurosis in which the body can’t make a protein needed by the retina to convert light into vision-enabling signals, which are sent to the brain. This new therapy involves injecting under the retina a human-engineered virus containing copies of a normal gene, so cells can express the protein. LCA is a rare inherited retinal disease, and nearly 30 gene mutations are associated with it.

Creed said that after the surgery, he can’t wait to see a real rainbow and he can’t wait to throw his canes in the lake.

His mom, on speakerphone last week while driving to pick up a new batch of “Creed’s Cause” T-shirts that she designed, talked about her most recent effort to help pay for medical bills not covered by insurance, and for travel expenses.

At $20 apiece, Sarah sells them locally and through Facebook and Instagram. When she’s not making T-shirts, she’s an elementary school physical education assistant, and hosts trivia nights at a brewery owned by her sister and brother-in-law.

Creed is a third-grader at Mount Dora Christian Academy, a school that better serves his needs than the public system. MDCA is like family to Creed and his mom, hosting lots of fundraisers, including a January basketball event that raised $5,000. The Douglas G. Halliday Foundation of Orlando recently made a generous contribution, adding to the more than $100,000 raised from 5K races, a CrossFit event and contributions from many friends and people she doesn’t even know.

Missing milestones

In 2011, doctors diagnosed Creed with LCA; in the months following he received a genetic diagnosis of LCA-RPE65. Image: Toddler-aged Creed wearing patches over both eyes.

Sarah knew something was wrong with her baby shortly after he was born in January 2009.

“He missed all of the milestones. He would run into everything. He wasn’t walking. Instead, he did this weird Army crawl. He’d feel for his food and look up.

“Everything just said something’s not right.”

Then came the heartache of trying to figure out what was wrong. Doctors diagnosed Creed at 18 months old as autistic, and another said he had problems with his peripheral vision.

For the first year of Creed’s life, his mom thought he had colic because he would spend his days contentedly on a blanket outside, and at the end of the day when he went back into the house, he cried, all night.

An autism teacher advised Sarah to black out all the windows in the house, keep everything dark and not allow him to be in light, the exact opposite of what he needed.

She found the right advice from a woman specializing in depth perception and dyslexia. For the first time, and coming from a non-doctor, Sarah learned that her son probably was blind.

Creed with eye patches on his eyes, his mom is holding him — In 2011, doctors diagnosed Creed at 2 years and 8 months with LCA; in the months following he received a genetic diagnosis of LCA-RPE65. A week later, Sarah began her fundraising endeavors.

She also reached out for support that resulted in a team of therapists and specialists to address Creed’s movement, vision, speech, orientation, mobility and behavior.

Trying for a gene therapy trial

Sarah learned about RPE65 gene-therapy trials. She, her mother, Mary, and Creed traveled to Iowa twice for what turned out to be unsuccessful attempts to be part of the research.

Creed’s visual acuity is actually very good; when he has light, he can see. When he doesn’t have light, he can’t see anything. As Sarah says, “No light, no sight.”

He needed light and he got it, with his mom installing special bright lights all over the house.

“I’m positive they can see us in space,” she said of the lights in and around her home. Creed also has more light in school, including a light in his desk.

At school and in life, Creed has another light shining on him – his best buddy Michael, who bonded with him in first grade. He helps him be safe and gives Sarah updates about her son.

She said she can’t believe Michael’s maturity and sensitivity and believes he was put on this earth to help her son and others.

For Valentine’s Day, teachers filled bags with candy and sold them for $1 each, with proceeds going toward Creed’s expenses.

The words on the candy bag say, “Help Creed see how much we love him.”

#KnowYourGene: AGTC Working On Multiple IRD Treatments

Applied Genetic Technologies Corporation (AGTC), a clinical stage biotech company that focuses on rare inherited retinal diseases (IRDs), develops therapies that replace “broken” genes with normal functional genes – treatments that allow a patient’s own body to produce proteins to treat their disease.

As a headline touts from an AGTC website story: “Imagine That the Power to Beat Genetic Disease Lies Within Us.”

The work that companies such as AGTC undertake serves to underscore the importance of genetic testing in the treatment of rare inherited retinal diseases. This month, Sofia Sees Hope has launched a #KnowYourGene campaign in advance of International Rare Disease Day on Feb. 28.

A clinical diagnosis of a named disease is not enough to help find cures and treatments for these and other rare IRDs.

For meaningful and productive research to advance, patients need to take the most important step to help further research into correcting the mutated genes affecting their vision:

Get a definitive genetic diagnosis of their eye condition with genetic testing. Talk to your doctor about ordering a test through one of several laboratories or contact Foundation Fighting Blindness (FFB) about free testing.

Genetic testing is key

AGTC (headquartered in Alachua, Fla., with offices in Cambridge, Mass.) strives to get the word out through their patient advocacy work headed by Jill Dolgin, Pharm.D. The company partners with Hope in Focus (formally Sofia Sees Hope (SSH)), which helps fund FFB’s free genetic testing and genetic counseling program.

A priority for AGTC is to find and educate people with rare inherited retinal diseases and encourage them to get genetic testing. Patients with the same gene mutations studied by AGTC could potentially participate in one of their clinical trials.

The company also is collaborating with advocacy groups to inform individuals with the conditions for which AGTC is conducting clinical research, including:

Achroma Corp. , an organization providing support and education to those affected individuals and families with Achromatopsia
MomsForSight, which provides information to affected individuals and families with X-Linked Retinoschisis
Foundation Fighting Blindness of US and Canada

AGTC also reaches people with rare inherited retinal diseases through online and print articles, social media, medical publications, national vision conferences and their website.

What’s in the pipeline

The conditions for which treatments are under Phase 1 and Phase 2 clinical investigation include:

X-linked retinoschisis (XLRS) is the leading cause of macular degeneration in males. An inherited form of retinal degeneration affecting young males, patients affected by XLRS present with poor vision by school age. Visual acuity usually worsens during the teenage years and then can lead to serious complications such as vitreous hemorrhage or retinal detachment during adulthood.

Mutations in the RS1 gene cause early onset retinal disease. In animal models of XLRS, treatment with an AGTC gene-therapy candidate leads to long-term improvement in retinal function and preventing retinal cell degeneration. Based on preclinical proof-of-concept data, AGTC is conducting a clinical study to evaluate the safety and efficacy of an investigational gene therapy in patients with XLRS.

Achromatopsia causes visual acuity loss, extreme light sensitivity resulting in daytime blindness and reduced or complete loss of color distinction. About 75 percent of cases are associated with mutations in the CNGB3 and CNGA3 genes, also known as ACHM B3 and ACHM A3 genes, respectively. The company is currently evaluating a gene therapy in a Phase 1/ 2 trial for individuals diagnosed with Achromatopsia caused by mutations in either the CNGB3 gene or CNGA3 gene.

To better understand the condition, researchers from the University of Pennsylvania School of Veterinary Medicine and the Michigan State University College of Veterinary Medicine filmed a dog with ACHM B3 unsuccessfully trying to navigate a maze. Four months later, after receiving gene therapy treatment developed by AGTC, the pooch easily finds its way through the maze.

Check out the video showing how sheep affected by achromatopsia due to ACHM A3 mutations also were able to successfully navigate a maze following gene therapy administration.

X-Linked Retinitis Pigmentosa (XLRP) is an inherited condition that causes progressive vision loss in boys and young men. Symptoms begin with night blindness in young boys followed by progressive constriction of the field of vision. Affected men become legally blind at about 45 years of age, on average. AGTC is currently recruiting for a Natural History Study, intended to gather information about the condition over time for a better understanding of the disease’s progression and its effect on the individual’s quality of life, and for a Phase 1/ 2 clinical trial.

AGTC is committed to advancing clinical programs to deliver novel gene-based therapies for rare conditions without any available treatment options. The company would like to express its deep appreciation to patients who have participated in their clinical trials and is grateful to its partners for their dedication and continued support.

First, Diagnosis. Then, Genetic Testing. It’s Important.

My Retina Tracker^® is a free and secure online registry launched by the Foundation Fighting Blindness that helps connect families dealing with rare inherited retinal diseases to feel less alone, and to find help.

Parents feel shock and isolation when they are told their babies have no vision or limited vision caused by a rare inherited retinal disease. They do adapt and pursue resources, but that feeling of isolation often persists because of the disease’s rarity. It’s unlikely you will bump into someone in the grocery store whose child also has retinitis pigmentosa.

My Retina Tracker® is a free and secure online registry launched by the Foundation Fighting Blindness (FFB) that helps alleviate those feelings of isolation. An individual goes from being one with an inherited retinal disease to becoming part of a growing community of people (currently 6,500) sharing similar concerns and hopes.

The goal of My Retina Tracker^® is to drive the research toward prevention, treatments and cures for people living with retinitis pigmentosa (RP), Stargardt disease, Usher syndrome and the whole spectrum of inherited retinal degenerative diseases, including Leber congenital amaurosis (LCA).

The global registry includes rare inherited retinal disease patient disease information from Europe, North, South and Central America, Asia and the Pacific.

‘Stand up’ and be included

Dr. Brian Mansfield, FFB’s deputy research officer who managed the registry’s launch three years ago, said people registering take an active role in advancing research to find treatments and cures for specific rare inherited retinal diseases, affording the opportunity to join others and “stand up and be counted.”

“Whether you’re in the middle of New York City or in a small town in West Virginia,” Dr. Mansfield said, “you’re equal to everyone else in that registry. It removes isolation. You’re literally standing up.”

My Retina Tracker^® notifies registrants of clinical trials and gives researchers access to their disease data – but not their personal information – to advance research and therapy development associated with IRDs.

To optimize the power of My Retina Tracker^®, registrants should seek a genetic diagnosis. The registry facilitates that by making registrants eligible for free genetic testing. In today’s world, it is helpful to be genetically diagnosed if you want to participate in research.

Details of My Retina Tracker^® can come none too soon for some. Dr. Mansfield said after LUXTURNA® recently came to market as the first genetic therapy for LCA patients with an RPE65 gene mutation, he came across information about a person who set up a crowd-funding site asking for $5,000 to travel to Texas because he needed a genetic test.

“You don’t have to raise $5,000 to get a genetic test,” Dr. Mansfield said. “You don’t have to travel to Texas to get a genetic test.”

Helping families get tested

Hope in Focus (formally Sofia Sees Hope) well understands the importance of genetic testing for those with rare inherited retinal disease. Part of its mission is to educate individuals and families about the importance of becoming part of patient registries and getting genetically tested. SSH also makes genetic testing accessible to those who cannot afford it.

“Last year, we supported FFB’s (genetic testing) program as a small test grant,” said SSH founder Laura Manfre. “This year, with the success of the test and thanks to the tremendous support of our donors, we are happy that we were able to more than quadruple our contribution, enabling many more individuals to receive free testing and genetic counseling.”

Dr. Mansfield thanked Sofia Sees Hope for for its $65,000 donation to FFB, earmarked for genetic testing.

“The help was truly appreciated,” he said. “I’m very proud of the relationship we have with Sofia Sees Hope.”

How My Retina Tracker^® works

Go to myretinatracker.org, click on Register Now and follow the prompts to establish a username and password and to answer questions to build your personalized retinal health profile. You are then guided through a series of questionnaires developed by retinal clinicians, geneticists, genetic counselors and rare inherited retinal disease researchers.

If you have any questions, call the My Retina Tracker^® coordinator at 800-683-5555 or email to Coordinator@MyRetinaTracker.org.

Once you’ve registered, send a request to Coordinator@MyRetinaTracker.org asking to be genetically tested and you’ll receive information and guidance on how to order the test.

The registry becomes your personal retinal health record, updated by you and your doctors. Your history and testing results create a critical resource in tracking the progress of your disease and becoming part of a comprehensive database.

The registry employs state-of-the-art database technology to protect privacy and adheres to the highest standards of confidentiality and ethics, following policy and protocol set by the National Institutes of Health’s Institutional Review Board.

Your disease information is accessible only to you, FFB registry staff, and researchers who meet a rigorous scientific review application process to use the data for studies and to reach individuals to participate in clinical trials, natural history studies or focus groups. Your personal information is never shared with researchers.

Large commercial biotech companies use this pool of data to find people for clinical trials, a common research challenge. Rather than calling clinicians one by one, the data is accessible in one place and often updated.

Clinical trials are out there

The data helps inform researchers about the therapies patients want, the risks they are willing to take for different levels of vision improvement and when and how their vision loss progresses.

Personal updates, such as when someone had to stop driving because of increased vision loss, help track the progress of the patient’s disease.

“Then you have a clinical longitudinal timeline as to how vision is changing for the patient,” Dr. Mansfield said.

Before My Retina Tracker^®, the foundation used a paper list of about 12,000 names accumulated over FFB’s 40 years. The names transferred to the new registry to total about 17,500, but many are outdated.

There are about 6,500 people actively engaging in the online portal profile, with about 150 new registrations a month.

Dr. Mansfield wants to reach a minimum goal of 20,000 registrants in the next four years, although 50,000 would be preferable, as it would make for an extremely effective base of data for phase 2 and phase 3 studies that create demand for more trial enrollees.

He also made the distinction that private labs hold onto their data tightly, whereas FFB’s goal is the opposite.

“We want to share it, we want to move the whole field forward,” Dr. Mansfield said. “After all, our goal is to ensure the treatment and cures of all retinal diseases.”

Being Married to Brandon: “A Precious Exercise of Mindfulness”

When I met Brandon in September 2014, I thought that I was talking to the most interesting person I had ever met.

Not only was he the first American I had ever talked to, Brandon was also the opposite of the typical 20-something Italian: Not Catholic, vegetarian, mostly homeschooled, who preferred peanut butter over Nutella.

Besides the cultural diversities, I immediately liked his positive way of thinking, his unusual curiosity and his witty sense of humor.

Another particularity of Brandon was his blindness, which is actually the reason why we met.

I was giving a tour of my university, the University of Milano, Italy, for international students and I was asked to guide Brandon, who was there to study Italian for opera. Among a group of a hundred students, it would have been unlikely that I would have gotten to know any of them. Since Brandon was by my side, however, we had the chance to talk during the tour. And then we scheduled a date.

We were married two years later.

The last three years with Brandon have been quite a journey; we have been apart for several months, but we also managed to live in five countries and visit nine in total.

I have special memories for each of them, for example swimming in the crystal sea in Croatia for our honeymoon, walking through the Christmas markets in Vienna, visiting the Nobel Museum in Stockholm, making cheese on a Maltese farm, seeing “Matilda the Musical” in London. These are just a few of the unforgettable moments we have shared so far.

Currently, we are happily living on a houseboat on a little canal in the city of Groningen, Netherlands, where I am studying for my master’s in computational linguistics.

I consider living with a blind partner a precious exercise of mindfulness.

If I am alone, I walk in the street careful enough to be safe, but I am immersed in my thoughts, listening to music with my isolating headphones. When I am with Brandon, I acknowledge everything around me: people, buildings, colors, behaviors, my own emotions, and I feel that I am present in the moment.

At the same time, I acknowledge accessibility issues, which are a wide problem in south European countries. Sidewalks are too narrow, uneven or used for parking by cars. Also, street lights without sound effects or unsafe driving behaviors are a cause of frustration for me.

Previously I said that Brandon and I met because he was blind, which is not exactly the truth.

Brandon’s education, O&M (Orientation & Mobility) training, and his (now, also my,) incredible family have made him an independent, healthy and positive person, confident enough to decide to take a plane solo, cross the ocean and live abroad for one year to learn a new language.

Therefore, I am forever grateful to everyone who contributed to Brandon’s education. I am now happy to see Brandon helping his mum, Sonja, to build educational services that can have a significant impact on other young blind determined students.

Learn more about Brandon

Read Brandon’s mother’s story

Read Brandon’s father’s story