Clinical Trials and Emerging Research Show Promise for LCA Treatments

Forty clinical trials and a lot of pre-clinical research into LCA treatments show promising pathways to discovering the next LUXTURNA®, according to Shannon Boye, PhD, the opening speaker for the Virtual VISIONS 2020 conference, presented earlier this summer by the Foundation Fighting Blindness.

The breakthrough drug developed by Spark Therapeutics marked a milestone in the history of genetic research as the first gene therapy in the United States for any inherited disease and as the first to treat one of the more than 25 forms of Leber congenital amaurosis (LCA).

Shannon Boye, PhD in a lab coat — Shannon Boye, PhD

Boye, along with Foundation Chairman of the Board David Brint and Foundation Chief Executive Officer Benjamin Yerxa PhD, kicked off the three-day, first-time virtual conference, the Foundation’s major annual gathering. Rather than convening in person, the event’s speakers, exhibitors and more than 1,600 attendees participated through an online app, due to concerns surrounding the coronavirus pandemic.

Brint said that the 40 clinical trials and more emerging treatments for various IRDs span the disease profile.

“No matter what your disease is, these hopefully will be able to restore vision,” Brint said. “In the next 10 years, we have an opportunity to bring many more vision-saving treatments into and through the pipeline and across the finish line.”

Yerxa said the topic of genetic therapies would be good to lead off with because of the sheer variety of innovative programs and approaches to each therapeutic challenge.

“There’s essentially a revolution happening right now in personalized medicine and genetic therapies in general,” Yerxa said.

Boye, an assistant professor in the Department of Ophthalmology at the University of Florida, addressed the audience in the beginning session called: “Mission Possible! What’s Next?”

She discussed three major strategies in treating LCA and other IRDs: Gene supplementation or gene replacement therapy, RNA therapeutics and gene editing.

Boye set up an analogy to better understand the complexities of these strategies, saying we all have little letters in our bodies called DNA. Subunits of those letters – that DNA – are genes. RNA carry the instructions from DNA for making proteins, the building blocks of life.

“They act alone or in concert with a bunch of other proteins to perform essential functions.”

Continuing her letters analogy, Boye said, imagine a friend texts you: ‘Please take out the dog.’ You get that message and perform that function because letters combined correctly to tell you to take the dog out.

If only the word ‘Please’ appears on your phone screen, you don’t take the dog out.

Or, if the ‘d’ is pushed and an ‘l’ comes out, sending the message, ‘Please take the log out,’ “you then have a mess to clean up,” she quipped.

In the first strategy of gene supplementation or gene replacement, the right protein needs to be expressed in the patient’s retina.

The letters need to be correctly sequenced to generate a coherent message, in this case, telling a protein to perform an important function. Any break in that cascade of events can cause visual impairment.

The gene replacement therapy LUXTURNA is a human-engineered virus containing copies of the corrective gene that doctors deliver through a subretinal injection so the cells can make the originally missing protein.

“You deliver the right letters that make the right message and the right protein,” she said. “That’s a pretty simple concept. That’s LUXTURNA.”

Developed to improve vision in people with LCA2* caused by a mutation in the RPE65 gene, LUXTURNA received Food and Drug Administration approval for use in humans in December 2017.

One area of Boye’s research as Associate Division Chief of Cellular and Molecular Therapeutics is entering into a Phase 1/2 clinical trial, applying the same premise for mutations in the GUCY2D gene that causes LCA1.

“It’s early,” she said. “But this is an example of another perhaps next LUXTURNA being right around the corner.”

She cited similar research moving forward on other IRDs, including Retinitis Pigmentosa (RP), Choroideremia, and Bardet Biedl Syndrome (BBS).

The second strategy is a form of RNA therapeutics that uses antisense oligonucleotides (AONs) – short, single-stranded DNA molecules that interact with messenger RNA to correct translation of a targeted gene. Think of an AON as an autocorrect feature that binds to the ‘l’ in log and changes to a ‘d’ for dog.

Promising pre-clinical work now in Phase 2/3 for CEP290 or LCA10 also is coming out of Rob Collin’s research group in The Netherlands, Boye said.

Another AON program underway addresses a form of Usher Syndrome.

The third strategy – the newest and most exciting – is gene editing. A guide RNA is used to drag a special enzyme to a region in the DNA that contains the mutation, and the enzyme cuts the DNA, like molecular scissors.

Researchers are exploring a host of gene editing variations, including cutting out a specific area of DNA and replacing it with the right letters to make a coherent message. The lab work has created paths to address a range of IRDs, including CEP290, Usher Syndrome, RP, Stargardt Disease and Choroidermia.

“There’s an absolute exponential increase in the therapies that are being developed,” she said.

These strategies are not limited to the disease conditions under discussion and can be more widely applied to a number of genes and conditions.

Addressing those who do not have RPE65 or LCA2 for which a treatment exists, Boye said, with all of this research in progress, “that one day, there’s going to be a LUXTURNA for your inherited retinal disease, too.”

Register Now for LCA-CRX Webinar Set for July 15

Drew’s Beacon for Blindness and Foundation Fighting Blindness are hosting a webinar Wednesday, July 15, at 4:30 p.m. EST on current research involving LCA-CRX, an extremely rare form of Leber congenital amaurosis (LCA) caused by a mutation in the CRX gene.

Drew’s Beacon for Blindness was founded by the parents of Drew Picinich, a now 4-year-old preschooler who was diagnosed in 2016 with LCA-CRX, also called LCA7.

The more than 25 identified forms of LCA usually occur in 1 to 2 per 100,000 births. The exceedingly rare CRX affects 1 to 2 percent of all LCA patients.

To attend the informational webinar, please send your email contact information to Drew’s mom, Monica Picinich, at mpicinich@drewsbeacon.org. A follow-up email with the Zoom access link will be sent to you.

Interested parties also can contact Monica by email with any questions or concerns.

An LCA Diagnosis Leads to Founding A Nonprofit for This Family

Even the Covid-19 cloud has a silver lining, and living proof is Andrew Picinich, a 4-year-old preschooler with LCA-CRX, an exceedingly rare form of Leber congenital amaurosis (LCA) caused by a mutation in his CRX gene.

Anna helping Drew on his ipad — Drew’ s sister Anna helping him with his computer

Other than saying a few words, Andrew, who goes by Drew, usually does not speak. Coaxing him to be more open and social poses one of the biggest challenges for his parents.

Turns out being stuck at home in northeast Philadelphia to temper the spread of the coronavirus, opened up Drew’s personality, thanks to being with his family – all day, every day. He is interacting and engaging with them more than ever.

Drew also receives vision teletherapy and virtual preschool assignments through Philadelphia’s Overbrook School for the Blind. Virtual learning, a challenge for many, has its built-in difficulties for a 4-year-old who, as his mother said, has the attention span of, a 4-year-old.

As with many families staying home during the pandemic, the Picinich household is extraordinarily busy. Drew’s mom, 39-year-old Monica, works full time now from home as a teacher of the visually impaired, and Drew’s dad, 41-year-old Cian, works full time downtown for the Philadelphia Corporation for the Aging, which helps with elder care.

Monica, a former middle school science teacher, decided rather than focus on Drew’s pre-Braille and computer skills for now, she would concentrate on teaching him – literally and figuratively – how to navigate everyday life, including helping him learn to play with the same games and toys as his 7-year-old sister, Anna, and 2-year-old brother, Sean. Anna also plays sort of a teaching-assistant role with her outgoing personality. But being so social while not being in a classroom also means she terribly misses her school, and her first-grade friends and her teacher.

CRX: Rare among the rare

At 4 months old, Drew moved his eyes from side to side as if reading a teleprompter, his mom said, and a pediatric

Drew's family with the Easter bunny — Drew’s Uncle Joe, Grandmom Barbara, cousin Sienna, sister Anna, brother Sean, Drew, Mom Monica, Dad Cian, Aunt Alysha and Uncle Greg, posing with the Easter bunny.

ophthalmologist diagnosed him with nystagmus. At Children’s Hospital of Philadelphia (CHOP), he underwent an electroretinogram (ERG), revealing his LCA diagnosis.

Drew’s confirmed genetic diagnosis later found he had a mutation in his CRX gene, resulting in LCA-CRX, also known as LCA7, a rarer version of the already rare forms of LCA.

The more than 25 identified forms of LCA usually occur in 1 to 2 per 100,000 births. The extremely rare CRX affects 1 percent to 3 percent of all LCA patients.

The CRX mutation also distinguishes itself as an autosomal-dominant gene rather than LCA’s usual autosomal-recessive, meaning a gene mutation caused Drew’s condition, rather than him inheriting it from his parents. This also means Drew has a 50/50 chance of passing it on to his children.

Developing therapies for treating CRX also presents bigger challenges. The CRX dominant gene first needs to be turned off before inserting a good gene. A federally approved therapy for LCA2 (LCA-RPE65) works by inserting a new gene to overtake the bad, while a developing technology of gene editing works like molecular scissors to cut out the mutation.

As part of their search for more CRX information, the family attended the LCA Family Conference hosted by Hope in Focus (formally Sofia Sees Hope)last summer in Philadelphia. Patients, family members, advocates, doctors, researchers, and biotech industry leaders gathered at the two-day conference.

“I came away with knowledge and connections,” Monica said. “Being able to listen to and converse with doctors, FFB (Foundation Fighting Blindness) representatives, people from Sofia Sees Hope, and other families, was both informative and empowering. Even more impressive was the amount of dedication and love displayed by everyone that attended the conference.”

Drew’s Beacon for Blindness

Sibling photo of Drew, Anna and Sean — Four year old Drew (right) with Anna, his 7-year-old-sister, and Sean, his 2-year-old-brother.

Soon after their son’s diagnosis, Monica and Cian (pronounced key-in) realized CRX families needed a patient organization to reach other families affected by LCA-CRX and to raise money for research.

Four summers ago, their extended family gathered around the dining room table at Monica’s parents’ beach house. They brainstormed and created Drew’s Beacon for Blindness. Monica and her brother, Joseph Cardullo, run the group.

The nonprofit supports the blind in Pennsylvania, New Jersey, and Delaware, and has two objectives: Finding a treatment/cure for CRX blindness and supporting schools and other organizations that provide educational technology for students living with blindness.

The group secured grant funding to give schools a 3-D printer and a K-NFB Reader (Kurzweil-National Federation of the Blind Reader), a mobile app that converts text to speech or text to Braille.

While researchers work toward developing a treatment for CRX blindness, Monica said, “Our main goal right now is to find other families with the same gene that want to unite to support CRX research.

“Aside from the research, it’s great getting to know people who have similar experiences as you. It helps make your rare experience feel more normal.”

Still in the early planning stages, Drew’s supporters in partnership with the Foundation Fighting Blindness are working on an educational webinar for CRX families. Sofia Sees Hope will help spread the word when the webinar plan comes to fruition.

With more input from researchers and families, Drew’s Beacon for Blindness hopes to discern promising avenues of CRX research and help fund studies to find a cure.

“Hopefully,” Monica said, “We can start to help move the research forward. It would be fantastic if everyone with LCA, no matter the gene, had an option for treatment.”

Living with LCA: ‘It’s ABCs and 123s’

Blink and you just might miss toddler Jordynn rocket past you. A force to be reckoned with when it comes to music and movement, Jordynn is 4 years old and lives with Leber congenital amaurosis (LCA) caused by a mutation in her RPE65 gene.

Jordynn on her rocking unicorn horse wearing sunglasses — Jordynn on her rocking unicorn.

“Jordynn is obsessed with movement,” said her mother, Joy. “So, before COVID happened, I would take her to Sky Zone (Trampoline Park),” now closed as part of a national shutdown to help contain the pandemic of coronavirus, known as COVID-19.

“Anything that moves, Jordynn is willing to try. We have a hard time getting her off the swings. At school, they use it as a reward for what she accomplished.”

Jordynn and her mother, who live in upstate New York near Rochester, received their genetic diagnoses in 2017, just several months before the U.S. Food and Drug Administration approved LUXTURNA™, a genetic therapy for patients with the RPE65 gene mutation, known as LCA2.

Jordynn was on a waiting list to take part in an RPE65 gene therapy study by Dr. Mina Chung of the University of Rochester Medical Center (URMC) Strong Flaum Eye Institute when Dr. Chung died in February after a fall while skiing in Italy.

Jordynn’s family is still reeling from Chung’s sudden death. She was a 51-year-old renowned researcher and retinal surgeon.

“She was the best,” Joy said. “We had just seen her a week before she went on her vacation and we’d see her when she came back.”

Joy is waiting to hear when Jordynn can join the study and was told by Dr. Benjamin Hammond, a colleague of Dr. Chung’s and an ophthalmologist working with Jordynn, that everything is on hold until another surgeon comes on board.

Turning 4 in the middle of a pandemic

Jordynn just celebrated her 4th birthday Wednesday, May 6, when her very arts-and-crafty mom gave her daughter a

Jordynn being held by her mom, Joy — Joy and her daughter Jordynn

quarantine birthday party, planned far in advance with a rainbows-and-cupcakes theme. Family members sang “Happy Birthday,” took photographs, and five minutes later left for their respective homes to help curb the spread of the virus.

With her prekindergarten class closed because of the pandemic, Jordynn gets her schoolwork sent home and through a YouTube channel. She has music therapy incorporated with orientation and mobility training because she is so drawn to playing the piano and the drums and loves to follow the beat and sing.

She also is learning Braille on a Brailler, and everything throughout her mom’s apartment and her grandmother’s nearby home is labeled in Braille for her to identify.

“Before it was all about Sesame Street,” Joy said of her daughter’s learning. “Right now, it’s ABCs and 123s and colors and all the things on YouTube that she can dance to and learn her numbers while she’s singing.”

Praise for New York’s VI Resources

Jordynn’s vision allows her to follow light and see three-dimensional shapes, but she cannot see them on paper.

Her mother first noticed something might be awry with her vision when she wouldn’t pay attention to people looking at her and smiling. Doctors diagnosed Jordynn with nystagmus, a vision condition wherein the eyes make repetitive, uncontrolled movements.

With a later diagnosis of LCA, Joy was stunned: “I just sat there, and then I said, is this my fault? Is there something I could have done when I carried her? OK, it’s something genetic.

“I cried,” she said. “The whole family cried.”

Already working with URMC Pediatrician Dr. Mary Porter for early mobility intervention, Jordynn’s family found more resources through Dr. Chung and Dr. Hammond, and through upstate New York’s Association for the Blind & Visually Impaired.

Through it all, though, Joy is most grateful for an incredibly supportive family. Jordynn’s family support extends to her dad in North Carolina, aunts, uncles and four grandparents, including Grandma Gwen, Joy’s mom, who sees her almost every day.

“It’s just family support; that’s how we get through this,” Joy said. “Family support and lots of toys.”

On the move

Jordynn is among Gwen Goodwine’s dozen grandchildren and gets to see her grandma almost daily because they live near each other and because Gwen takes care of her while her mom, Joy, cares for the elderly and those with dementia.

There is no disguising the abundant love and hope that Gwen exudes for her youngest grandchild. For Jordynn, Gwen set up rugs like oversized dominoes throughout her house, blue and white rugs, from the family room, to the living room, to the kitchen, to the bedroom.

“That’s how she learned how to navigate,” Gwen said. “She runs through here like she’s got 20/20 vision.

“She likes to climb up on things. Anything she can reach. She takes the stool everywhere she wants to get. She loves to take the stool to my dresser. She plays with my perfume and plays with the jewelry. She’s fascinated. She looks in the mirror. She can’t see herself, but she’s seen me do it so many times that she does it.”

Jordynn moves a lot at grandma’s.

“She’d jump off this house if she could. I bought her a rocking horse. She’ll get on that horse and say, ‘I’m going to Tennessee, I’m going to Georgia, I’m going to California.’ She tore it up. Got another one. How she used it! They sent us another one free.

“She can be stubborn, too, oh my God. It’s her way or no way. She has a mind of her own. She knows what she wants, and she gets it.”

Gwen, now 80 with still a lot of energy, wants more than anything to see Jordynn see.

“I say, Lord, please. I don’t want to leave this earth ’til she look at me and see my white hair, take both of her hands on my jaws and kiss me.”

Conference connections

After Jordynn’s genetic diagnosis, Joy and Gwen found out about Spark Therapeutics, the research company that developed LUXTURNA™. The drug is an engineered virus that delivers the human RPE65 gene by subretinal injections.

They spoke with Spark’s Head of Patient Advocacy, Jamie Ring, who told them about Hope in Focus (formally Sofia Sees Hope) and its advocacy work with people living with LCA and other rare inherited retinal diseases (IRDs). They also heard about Sofia Sees Hope’s (then) upcoming LCA Conference in July 2019.

Joy, her sister Jackie, Gwen, and Jordynn traveled last summer to the Philadelphia conference, a two-day event attended by more than 80 people – patients, family members, advocates, doctors, researchers, and biotech industry leaders – from across the country and Mexico.

The many people they met included Dr. Jean Bennett, who with her colleagues at Children’s Hospital of Philadelphia and Spark Therapeutics, developed LUXTURNA. They also spoke extensively to Ben Shaberman, Senior Director of Scientific Outreach and Community Engagement for the Foundation Fighting Blindness.

Joy said it was great to meet families with kids who have gone through the same experiences.

“Learning about the treatment and getting the education about all of it really gave me something to think about as my daughter’s journey continues as she lives with this visual impairment,” she said. “Knowing that my daughter can thrive and live a happy life with some occasional bumps in the road was a wonderful feeling.”

She’s learned along the way the importance of perseverance and patience, offering this advice to parents beginning this journey:

“Don’t get discouraged. Take your time. Learn the process. Get to know your options. Find the resources available in your state. It’s a process but it takes time and sometimes it can be frustrating.”

Joy’s other message? “Please treat Jordynn like a normal toddler, because this is her normal and she is just like any other toddler.”

Shaberman Combines Love of Science, Writing in Sci-Fi Novel Debut

Ben Shaberman – Senior Director of Scientific Outreach & Community Engagement at Foundation Fighting Blindness – combines his skills in science and storytelling to create Retina Boy, a sci-fi young-adult novel that weaves friendship, love, music, and an alien world of blind inhabitants into a delightful read.

Shaberman tells of the adventures of a Midwestern boy named Doug Anderson, who was born without retinas. Researchers were mystified by the boy from Des Moines, while strangers and friends were mesmerized by his luminescent, aquamarine eyes. A school kid taunts him, calling him Retina Boy, and Doug decides he likes his new nickname; it sounds like a moniker for a superhero, rather than a label given to someone who didn’t quite fit in, Shaberman writes.

Book cover with blue background and two large hand-drawn eyeballs. Title: Retina Boy Author: Ben Shaberman

The 59-year-old author and Washington, D.C., resident chose Des Moines as the setting for his novel published last fall because he lived there for a while and was taken by the expanse of the landscape and the endless cornfields.

“Iowa was very different from the mostly urban places where I’ve lived,” Shaberman said. “I also needed a place to land an alien spacecraft undetected and be relatively near a retinal research center. University of Iowa is about 100 miles from Des Moines.”

Retina Boy grew up to be a carefree teenager, playing lead guitar in an awesome, classic rock cover band. His girlfriend, Marcy, though unable to walk, was the smartest kid in their school. They were a perfect pair – she was his eyes and he was her legs. Never did Retina Boy imagine he was from another planet, and that he and Marcy would be called upon to save the Earth and an alien world of blind inhabitants on the brink of environmental collapse.

Shaberman’s talent as a science writer for the Foundation shines throughout the 202-page book, and we read familiar passages about genetic therapies and rare inherited retinal diseases (IRDs) that he writes about regularly in a column for Hope in Focus (formally Sofia Sees Hope)’s newsletter, Seeing Hope.

“One of my roles early on at the Foundation was to write about families affected by inherited retinal diseases. While there were always obvious and significant challenges for parents, I was often amazed by how well the kids were doing in their lives,” he said. “Their courage and perseverance always impressed me. That was part of the inspiration.

“But I also wanted to write something fun and adventurous that would appeal to both adults and children of all backgrounds and abilities. And, it was nice for me to take a break from the serious business of reporting on research.”

Among praise for the book from the rare retinal disease community, Sofia Sees Hope Co-Founder and President Laura Manfre, wrote: “A dynamic and fun read from beginning to end that touches on all of the elements of YA fiction today, while also dealing with issues of being different – being rare in one’s world or another world. I thoroughly enjoyed it!”

One of Shaberman’s characters, Dr. Ted Strong, a long-time clinical researcher into rare retinal diseases, had delivered difficult news to hundreds of parents in his 25-year career. But with Doug’s parents, Peter and Peg, he struggles, as Shaberman writes:

“Usually there’s some atrophy or dysplasia of the rods or cones. We often see pigmentary changes,” he said, rubbing his hand through his thinning brown hair. “But with your son, I mean, well, there’s hardly any retina. It’s so thin, a shadow of what it should be. Yet, the rest of his eyes appear to be relatively normal. The way eye development works, this can’t… uh… this shouldn’t happen.”

Dr. Strong tries to reassure the parents, who understand their son is blind but feel scared upon hearing their son’s case is singularly rare.

“I understand your concern, but there’s no easy answer,” the doc says. “Your son might have a very rare genetic defect. It could have been some type of spontaneous mutation during early development, or it could be inherited.”

Reality vs Science Fiction

With Shaberman’s career firmly based in reality, why write sci-fi?

Ben Shaberman

“Early on, I came up with the premise of a planet of blind inhabitants and that made the science-fiction genre inevitable. Science fiction was an entirely new genre for me and quite daunting. Creating an alien world of blind inhabitants was an incredibly difficult process,” he said.

“The story alternates between Earth and Zooba, the planet of the blind. I didn’t intend for the book to be YA and the story has appealed to all ages. But the story’s main characters are kids who become teenagers, so I think the YA label fits.”

Shaberman said he wanted to emphasize music in the novel, which he describes as an adventure of friends, aliens, retinas, and rock & roll.

“The book is filled with references to music, especially classic rock and electronica from the early ’70s and some other popular songs and artists. In essence, the book has a soundtrack. For obvious reasons, I tried to make sound an important element in the story.”

In the writing process, Retina Boy’s girlfriend, Marcy, emerges as a central character.

“In many ways, I became more attached to her than Retina Boy. She is a genius and a force to be reckoned with. Many times, she is running the show.”

Shaberman also said he’s received a wide range of reactions to the book’s ending.

“No spoilers here, but all I can say is it isn’t conventional.”

Readers can view an animated trailer of the book on YouTube.

Dedicated to the ‘rare’ among us

Shaberman dedicated his book to all individuals and families with challenging visual impairments.

“I am especially grateful to those with retinal degenerative diseases, such as retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), Usher syndrome, Stargardt disease, and age-related macular degeneration.

“As a writer for the Foundation Fighting Blindness, I’ve had the privilege of interviewing dozens of people and families impacted by these retinal conditions. While I fully embrace the Foundation’s mission to eradicate all retinal degenerative diseases, Retina Boy is an homage to those who persevere and thrive despite having few treatments or cures for their vision loss. Their courage, resourcefulness, and resilience have been incredibly inspiring for me. They are my heroes.”

“I’ve also had the privilege of reporting on retinal research advancements for emerging therapies to save and restore vision. It has been a fascinating journey.”

Shaberman offers thanks to more than 65 scientific investigators for enlightening him – a nonscientist – about the retina and related research.

His previous books include a work of fiction called Jerry’s Vegan Women and a collection of essays called The Vegan Monologues. His essays, articles and commentaries have appeared in The Washington Post, Chicago Tribune, The Baltimore Sun, Des Moines Register, VegNews magazine, Sky & Telescope magazine, and on National Public Radio.

Living with LCA: Finding Her ‘Light’ In the Kitchen

A recipe for addiction recovery transformed Orly Shamir’s life, and now it’s about to change her future.

Orly, who’s name in Hebrew means “My Light,” lives with LCA4, a form of Leber congenital amaurosis caused by a mutation in her AIPL1 gene.

The 52-year-old Canadian, newly transplanted to southeastern Florida, takes her Hebrew name literally.

“I am light, and I am vision,” she said. “I want to offer everything I have for others to realize their perfect light and vision is possible.”

As a child she had enough vision to read large print, but in her 20s, Orly’s sight deteriorated to minimal light perception and shadows. In 2014, she was part of a clinical trial in Canada for the Argus Retinal Prosthesis System (Argus II). The Argus II, known as the bionic eye, stimulates the eye with electrodes to transmit visual information captured by a video camera to the patient’s brain. You can read about her experience in the trial here.

“Still, I have true 20/20 vision,” she said. “My blindness forces a mindful clarity through all my other senses and that enriches everything from my cooking and healing, to my service to others.”

Along her journey through the darkness of an opiate addiction, she rediscovered her mother’s traditional Moroccan fish dish, served as part of each Friday’s sabbath dinner.

Little did she know the importance this recipe would have to her survival.

From 1999, after having her third child, until 2012, she said, “My opiate addiction took a huge chunk of my life away because it

Orly and Amit nicely dressed at Dinner in the Dark 2019 — Orly Shamir and her husband Amit (and guide dog Regan at the 2019 Dinner in the Dark to benefit Hope in Focus (formally Sofia Sees Hope).

was a fight. That’s why I want to give back and give light to the darkness.”

It began with chronic pain and prescriptions for Percocet and Oxycontin that offered relief and a false sense of well-being. Domestic abuse led to living in a shelter with her children. Orly finally realized she needed to get off the pills, but she could not.

“It was the beginning of torture for several years. That’s why we have an epidemic with opiates. It takes a lot of strength and support, and I tried three times over a four-year period. It takes everything out of you to get to the other end and never look back.”

Childhood memories of simmering aromas of lemons, parsley, cilantro, peppers, tomatoes and all the spices helped get her to the other side.

She tweaked her mother’s recipe during one of her mom’s visits from Montreal to Orly’s home in Toronto. When her don’t-you-dare-mess-with-ingredients mom left the kitchen, she took the opportunity, with guilt-laced excitement, to add a few more to the pot.

“Voila, my specialty Moroccan Salmon, the champion of my life was born! At dinner my mom raved about her wonderful fish, and all I did was smile while my soul did a happy dance.”

Years later her addiction took its toll with memory loss and less ability to perform skills. She realized that improving her cognition could be accomplished several ways, including by eating healthy food, especially fish like salmon with lots of omega-3s.

It’s fatty, versatile and widely available, which is why Orly says her dish is champion food for anyone on any recovery journey, whether from illness, addiction or the blues.

“Without knowing it, this spiritually comforting food became physical healing food.”

Blind Ambition

Orly is a gifted chef, a title-holding athlete (Italian and Canadian dragon-boat racing!), a financial analyst fluent in French and a motivational speaker. She has two sons and a transgender daughter, all in their 20s living in Canada. Orly, her husband of 12 years, Amit, and her guide dog, a 6-year-old Black Lab named Regan, live in Hollywood, Fla.

She just graduated from a Florida culinary school with her sights set on developing a YouTube cooking series and a recipe app.

To help finance her project, she applied in January for the Holman Pri z e for Blind Ambition by making a 90-second video about her project of combining culinary and cooking expertise with her inspirational recovery story.

“Do you know blind people are 40 percent more likely to develop addictions?” she tells viewers in her video. “And did you know proper nutrition is key to recovery? … Although I’ve been legally blind my whole life, I lost my soul’s true vision through opioid addiction and poor health.”

Orly sitting next to her black lab — Orly Shamir with her guide dog Regan.

Orly is turning her recovery story into a series of videos demonstrating healthy, delicious culinary delights, an accessible-to-all recipe app, and input from guest experts to help heal through the art of cooking.

She fashioned her simple and nutritious recovery recipes by using pronounceable ingredients, healthy fats, nuts and seeds and the like.

“It gives us more mental and physical strength because we start to feel better. We’re not as sluggish.”

Orly learned in March that she is one of 39 semi-finalists for the Holman Prize, selected from 109 applicants worldwide. Three winners will be selected in May.

The Holman Prize for Blind Ambition is annually awarded to three blind individuals to carry out a dream project to push limits and change perceptions about blindness around the world. The prize honors James Holman, a Victorian-era adventurer and author who became the first blind person to circumnavigate the globe; he also holds the distinction of being the most prolific traveler in history, sighted or not, prior to the invention of modern transportation.

Each Holman Prize winner receives up to $25,000 to fund a project or an adventure that will make an impact. The contest is sponsored by LightHouse for the Blind and Visually Impaired in San Francisco. The organization launched the prize concept to support the emerging adventurousness and can-do spirit of blind and low-vision people worldwide.

LightHouse CEO Bryan Bashin said the Holman Prize is not meant to save the world nor to congratulate someone for leaving the house. It is meant to change perceptions about what blind people can do.

“This prize will spark unanticipated accomplishments in the blindness community. You will see blind people doing things that surprise and perhaps even confuse you.”

Previous winning projects include teaching blind people to become beekeepers in Uganda, hosting the first conference in Mexico for blind children and their families led by blind professionals, and recording a documentary series called “Planes, Trains & Canes” about navigating and accessing transportation systems in five cities around the world.

For the next step in the contest, Orly is creating an in-depth proposal due by the end of April.

“My talent for cooking, my experiences all over the world tasting a plethora of inspiring favors, and my own story of failure, addiction and abuse woven in with courage, resilience and recovery – it was all for this.”

She Made Canadian Medical History When She Received a ‘Bionic Eye’

Orly Shamir made Canadian medical history when she became the first person in the country to receive a bionic eye.

In a clinical trial six years ago, Dr. Robert Devenyi and his surgical team at a Toronto hospital implanted an Argus Retinal Prosthesis System (Argus II) onto the surface of Orly’s retina.

The Argus II, known as the bionic eye, stimulates the eye with electrodes to transmit visual information captured by a video camera to the patient’s brain. Toronto Western Hospital-University Health Network and Foundation Fighting Blindness provided support as collaborators on the 2014 clinical trial. California-based Second Sight developed the device.

Health Canada approved the system in 2015. It was approved in the United States in 2014 and in Europe in 2011.

Orly has a form of Leber congenital amaurosis called LCA4 caused by a mutation in her AIPL1 gene. She could read large print as a child, but her vision deteriorated to minimal light perception and shadows in her 20s. Now 52, Orly took part in the 2014 trial when she was 46.

Photoreceptors in a healthy retina convert light into electrochemical pulses sent through the optic nerve and into the brain where they are decoded into images. When photoreceptors don’t function properly, as in the case of people with LCA, the first step in the vision process is disrupted and cannot transform light into images.

Approval for an Artificial Retina graphic

The Argus II bypasses damaged photoreceptors through electrodes implanted on the retina. Following the delicate three-hour surgery, Orly wore glasses containing a tiny camera that converted video images into a series of small electrical impulses transmitted wirelessly to the electrodes. Visual information transmits to the brain’s optic nerve when the pulses stimulate the retina’s remaining cells.

The visual improvement does not equal regular sight, but it allows patients to perceive light patterns, observe whether doors and windows are open, or pick up a glass.

Orly worked with rehabilitation experts, low-vision therapists and consultants from Second Sight. Three months following the surgery, she could detect contrast and recognize the difference between white and black. Because patients receive a form of artificial vision through this bionic eye, they need to re-train their brains through rehabilitation to learn and understand messages sent by the device. It’s kind of like learning a new language.

Orly volunteered to take part in the clinical trial for a year but presently does not use the technology.

“I worked hard for two years, then decided to not use the system for personal use, as it didn’t provide any benefits as of yet.”

Orly’s participation is exactly what a clinical trial is all about. She committed to making frequent visits and underwent testing over the course of a year. She knew that the goal of a clinical trial is to see whether a potential treatment is safe and effective, and that, while a trial participant might benefit, the trial’s purpose is to determine if the therapy works.

“I was prepared in being part of advancing technology for blind/visually impaired people in the future. That’s always who I am,” she said. “I’m 100 percent ready and available to get updates and keep trying.”

Rare Disease Day 2020: Lawmakers Hear From Advocates

Rare disease patients, caregivers, advocates, researchers, doctors, healthcare providers and lawmakers gathered at Connecticut’s capitol in Hartford on Friday, Feb. 28, to celebrate Rare Disease Day 2020 and raise awareness because rare medical conditions often are overlooked by health-policy decision makers and the medical community.

CT Rare Disease Day at the state Capitol in Hartford. Photo courtesy NORD.

The National Organization for Rare Disorders (NORD) and its Rare Action Network (RAN) organized the event for Rare Disease Day, celebrated nationally and in more than 85 countries. Click here for information on your state’s events, RAN and Rare Disease Day.

A disease is defined as rare in the United States if it affects fewer than 200,000 Americans. As many as 7,000 rare diseases exist nationally, affecting 1 in 10 people. Between 25 million and 30 million Americans live with a rare disease, including about 300,000 in Connecticut alone.

Sofia Sees Hope, based in Ledyard, Conn., gave information to legislators on the Connecticut General Assembly’s Public Health Committee, letting them know that rare disease advocates and those living with a rare disease, such as Leber congenital amaurosis (LCA) and other rare inherited retinal diseases (IRDs), need state and federal support in crafting legislation to help the rare disease community.

Awareness helps research

We wanted to impress upon the committee that dedicated, grassroots attention and awareness to specific rare diseases generate incredible results in finding cures and treatments. Children living with visual impairment now can regain their vision through a ground-breaking retinal medicine called LUXTURNA.

The legislators learned that for six years Sofia Sees Hope has been generating awareness, supporting affected families and raising funds to advance research for diagnosis, treatments and cures for blindness caused by LCA and other IRDs, such as retinitis pigmentosa (RP).

Here’s our legislative statement in its entirety:

LCA is characterized by severe vision loss at birth. While some children are born with little or no vision, others may have significant vision loss in the first few years of life, stable vision for a period, and then eventually complete vision loss as the retina deteriorates into total blindness.

The optimal window for reversing vision loss is during the early phase of the disease. Creating avenues to affordable treatments and accessibility to resources is imperative and often can be inhibited by insurance regulations and other rules limiting access to help and support patients.

More than 25 genes are associated with LCA and a mutation in just one of these can result in blindness. The rare disease occurs in 1 in 33,000 to 1 in 88,000 people and makes up 5 percent of all retinal dystrophies. Twenty percent of children with visual impairment and attending special schools have LCA; it is the second most common inherited retinal dystrophy after retinitis pigmentosa.

A patient needs a confirmed genetic diagnosis to proceed with appropriate treatment avenues. Sofia Sees Hope has given more than $100,000 to provide families, including those in Connecticut, free access to genetic testing and has directed $275,000 to genetic retinal research. Patients also need support from their lawmakers to ensure they receive the quality of life to which they are deserving.

After decades of research and dedicated investment in studies, scientists created a breakthrough genetic therapy that helps restore vision in patients with one of the genetic mutations causing LCA. The U.S. Food and Drug Administration in 2017 approved this treatment – developed by Spark Therapeutics and called LUXTURNA – which also is the first genetic therapy ever in the United States to treat ANY rare inherited disease.

LCA patients treated with LUXTURNA experienced dramatic changes in their lives with greatly improved or restored vision. Children who are 5, 6, 7 years old and have been treated with LUXTURNA view life in a new light in big and little ways. They now can see rainbows in the sky and stars shining at night.

Our lawmakers need to know that we fully support the principle that all FDA-approved treatments should be made available to all those who will benefit from such treatment, and to reject any proposed requirements restricting access to medications.

Sofia Sees Hope also encourages the Connecticut General Assembly to establish a Rare Disease Advisory Council comprised of patients, patient advocates, doctors, researchers and community members to address the emerging public health priority of rare diseases, including LCA.

Activism leads to legislation

More than 20 people – legislators, patient advocates, patients, caregivers, researchers, doctors and businesspeople – spoke during the morning event to a crowd gathered in the second-floor atrium of Connecticut’s Legislative Office Building.

Jean Kelly, co-founder of Brian’s Hope, spoke on behalf of her son, Brian, and others with Adrenoleukodystrophy (ALD), an x-linked metabolic disorder that destroys myelin, the protective sheath that surrounds the brain’s neurons – the nerve cells that allow us to think and to control our muscles. She and her husband are 24/7 caregivers of Brian who was diagnosed at age 6 and is now 31. Their son can hear but he cannot speak, see or walk. She advocated for more help for parents who must devote their lives to caring for their children. She and her husband advocated for mandatory ALD newborn screening in Connecticut, which was passed into law in 2013.

Laura Morris from the state’s Office of Health Strategy thanked legislators for the passage 10 years ago of a law requiring health insurance coverage for wound care for people like her daughter, who lived with Epidermolysis Bullosa (EB), a group of rare genetic conditions that result in easy blistering of the skin and mucous membranes.

A host of other speakers talked about dealing with enormous monthly bills, tangles over insurance coverage and the overwhelming stress on rare disease patients and caregivers.

NORD Director of State Policy Heidi Ross, in a statement from the organization’s President and CEO Peter L. Saltonstall, told the group:

“The purpose of Rare Disease Day is to bring patients and advocates together to articulate with one voice the shared message that millions of people around the world are suffering with unmet medical needs and need help. Our patients need earlier diagnosis; safe, effective treatments; and assured access to medical care and other services …

“There are events like ours today taking place in state capitol buildings across the nation, where elected officials are meeting with patient advocates to better understand what life is like with a rare disease, and how health care decisions they make at the state level – on issues such as newborn screening, medical insurance, cost-sharing and (specially formulated) medical foods – have a major impact” on those living with a rare disease.

Saltonstall’s statement ended with NORD’s credo:

“Alone we are rare. Together we are strong.”

Yes, we are.

Connecticut Rare Disease Day 2020

Rare Disease Day banner with zebra stripes. "Make an Impact on Rare Disease Day! Show Your Stripes."

The end of February signals the time to focus awareness on rare conditions by celebrating Rare Disease Day, a global event addressing the thousands of rare diseases that affect one in every 10 Americans.

Rare medical conditions affect 300,000 people in Connecticut, the home state of Sofia Sees Hope, and 30 million nationwide.

Yes, those are astounding figures that call for astounding action to bring attention to the needs of people living with rare diseases, such as Leber congenital amaurosis (LCA), one of the more than 7,000 rare diseases. The day – and its events that happen nationally and in more than 85 countries – fosters awareness needed to drive research for cures and treatments for rare diseases often overlooked by health-policy decision makers and the medical community.

In Connecticut, people living with rare disorders and their families, along with lawmakers, caregivers, advocates, advocacy organizations, healthcare providers, industry leaders and researchers will gather at the Capitol in Hartford to celebrate Rare Disease Day 2020 by highlighting their concerns and seeking help for solutions from state lawmakers.

Sofia Sees Hope plans to relay rare disease advocacy information, including the importance of genetic testing, to legislators on behalf of people living with LCA and other rare inherited retinal diseases (IRDs).

The public is invited to attend this legislative forum and breakfast at the Legislative Office Building, 100 Capitol Ave., Hartford, from 8 a.m. to 11 a.m., Friday, Feb. 28, the last business day before 2020’s official Rare Disease Day, Saturday, Feb. 29. The event takes place in the building’s second-floor atrium that looks out to the gold-domed Capitol building.

The National Organization for Rare Disorders (NORD) is the U.S. sponsor for Rare Disease Day 2020. The Hartford gathering, as with many others across the nation, is organized by NORD and its Rare Action Network (RAN). The focus for this year’s Rare Disease Day is the impact that rare diseases have on patients, families, caregivers, healthcare providers and local communities.

For more information about this free event, please contact Lesley Bennett, RAN’s Connecticut Volunteer State Ambassador at Lesley.bennett@rareaction.org or 203-829-7650. Also, here is a link to information on all states regarding RAN and Rare Disease Day: https://rareaction.org/resources-for-advocates/state-profiles/

Here’s a look at the prospective speakers

Dominic Cotton, a father and advocate for those with rare diseases and brain injuries, will emcee the event that begins after the 8 a.m. sign-in and breakfast.

Heidi Ross, NORD’s Director of State Policy, will offer opening remarks, followed by the legislative welcome by state Rep. Jonathan Steinberg, Co-Chair of the General Assembly’s* Public Health Committee; Rep. Michelle Cook,* member of the Public Health Committee; Sen. Len Fasano, Senate Majority Leader; and Jean Kelly of Brian’s Hope, a non-profit she and her husband, Jack, founded in 2012 for their son, Brian, diagnosed at age 6 with Adrenoleukodystrophy (ALD), an x-linked metabolic disorder. The couple advocated for mandatory ALD newborn screening in Connecticut, which was passed as law in June 2013.

Dr. Karen Rubin, a pediatric endocrinologist at Connecticut Children’s Medical Center (CCMC), and Adrienne Manning, Connecticut’s Newborn Screening (CT NBS) Program Division Director in the Department of Public Health Laboratory, will address diagnoses and treatments in newborns. State law requires all newborns to be screened for certain genetic and metabolic disorders. The program’s efforts help prevent disability and premature death by ensuring newborns receive the screening and, when needed, evaluation and treatment.

Dr. Rubin and Manning are part of a new partnership between the NBS Program and CCMC called the Connecticut Newborn Diagnosis and Treatment Network.

Silvia Vilarinho, MD, PhD, and Donna Sciacca of the American Liver Foundation are scheduled to talk about rare liver disorders. Dr. Vilarinho, Assistant Professor of Medicine (Digestive Diseases) and of Pathology at Yale University, is a physician-scientist who uses genetics, genomics and human samples to investigate the molecular basis of various liver diseases of unknown causes. Sciacca is the Community Outreach and Education Manager for the foundation’s Connecticut division.

Dr. Joanna Gell of Jackson Laboratories and CCMC will address germ cell tumors, which can be cancerous or noncancerous growths that form from reproductive cells. Dr. Gell is Assistant Professor in the Department of Pediatrics at the UConn School of Medicine.

Dr. Charles Whitaker, a neurologist who sees patients at the Hospital for Special Care (HSC), will talk about adult neuromuscular disorders.

Laura Morris, mother of a patient with epidermolysis bullosa (EB), a group of rare genetic conditions that result in easy blistering of the skin and mucous membranes, will appear with Rep. Russ Morin, who authored legislation that helped EB patients. Morris is Outreach Coordinator for the state’s Office of Health Strategy.

Dan Donovan, Co-Founder and CEO of rareLife solutions, will address the scarcity of literature on rare diseases.

Father Nikolas Karloutsos will moderate a pediatric panel about the impact of pediatric rare diseases on families. He is a caregiver for his daughter who has a BRAF mutation Rasopathy – probably Cardiofaciocutaneous (CFC) Syndrome – which causes issues with behavioral health and cognition.

Taking part in the panel will be:

Heather Knapp, caregiver and mother of four, whose youngest was identified at birth through the NBS Program with Phenylketonuria (PKU), an inherited disorder that increases the levels of a substance called phenylalanine in the blood. If untreated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems.
Jim Kubicza, who has a son with Angelman syndrome, a complex genetic disorder that primarily affects the nervous system.
Information that will be shared on behalf of Marissa B., mother of a child with CDKL5, a neurodevelopmental and epileptic encephalopathy disease characterized by difficult-to-control seizures that begin in infancy, followed by significant delays in many aspects of development. She and her husband provide 24/7 care for their child, who is among those on a years’ long waiting list for a special children’s waiver for Medicaid coverage.

A panel on the impact on adults with rare diseases will follow, and includes:

Carmen Wooster, mother of a daughter with Stiff Person Syndrome (SPS), a rare, progressive syndrome that affects the nervous system, specifically the brain and spinal cord.
Beverly St. Onge on Common Variable Immune Deficiency (CVID), one of the most frequently diagnosed primary immunodeficiencies, especially in adults, characterized by low levels of serum immunoglobulins and antibodies, which cause an increased susceptibility to infection.
Input on DiGeorge syndrome, a chromosomal disorder that results in poor development of several body systems.
The Leeds family regarding hereditary angioedema, a disorder characterized by recurrent episodes of severe swelling.

Paul Pescatello is also set to speak. Pescatello is President and CEO of the New England Biotech Association and chairs Connecticut Business & Industry’s Bioscience Growth Council.

Living with Leber Congenital Amaurosis: Dami’s Story

I was born in 1976 in Spokane, Washington. By the time I was born, my parents’ relationship was basically over, so I was raised by a single mom. It was clear from a very young age that I had significant vision loss. I started wearing glasses at 18 months. I went through lots of grueling tests as a toddler to figure out the cause of my vision loss with no real answers. Despite this, I lived a very full life. I was a Girl Scout. I did gymnastics. Basically, I did everything my friends did.

When I was 10, my mother took me to a research hospital in Portland, Oregon. After two days of testing, they told my mother I had Leber congenital amaurosis type 1. They told her I would likely be totally blind by the time I was 17.

So, I lived my days after that doing and seeing what I could because my vision had an expiration date. I didn’t just do the same stuff as my friends. I did more. I also got involved in the blindness community. I did public speaking in high school. I worked with blind kids, noticing that parents were not doing their children any favors by treating their children like fragile flowers. I worked with children with so few social skills because their parents didn’t expect them to act like the other kids. All that did was hurt them. But, I digress from my story.

So, I turned 17, and I could still see. Now, instead of vision having an expiration date, every day with vision was a gift. I went to college and met an amazing boy. We were married and pregnant with our first child within a year of meeting because I couldn’t stand the thought of not seeing my baby’s face.

I could go on forever about my life, but most of it is only interesting to me, so I’ll fast forward. I am 43, still married to that amazing boy, and we have two amazing boys of our own. I earned a Master’s degree in communications, and I work for a state agency that does vocational rehabilitation for people with visual impairments. I also still have a decent amount of vision, from my perspective.

A few weeks ago, I read a Facebook post about genetic testing. Nobody had ever talked to me about this before. I have regular eye appointments, but they really just check my vision and cataracts. I want to know more. I have started thinking I may have been misdiagnosed years ago, but I don’t even know where to begin. I’ve signed up for the genetic databases, but now what? It is such a strange feeling to doubt the one thing that had seemed certain my whole life.

So, that’s me. I’m not inspiring or pitiful. I’m just me, trying to figure out where I go from here and so glad to know I’m not alone.