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.

Giving Tuesday: Help Provide Access to Free Genetic Testing

When our daughter Sofia was 2, we knew something was wrong with her vision. By the time she was 5, doctors told us she perhaps had Leber congenital amaurosis (LCA), and the prognosis was grim: total blindness by adulthood. They did say that if we could confirm her condition genetically, there might be a chance for treatment. So for more than seven years, we underwent genetic testing in the hopes of determining which genetic variation was causing her vision loss.

That was more than five years ago. Since then, so much has happened, ranging from our decision in 2013 to create Hope in Focus (formally Sofia Sees Hope) to fund research into treatments, to the fact that in 2019, a child can be diagnosed with a specific type of LCA and receive treatment to restore vision within the same year.

In the time since we learned of Sofia’s diagnosis, 27 different genetic variations have been identified as causing LCA. One – RPE65 – has an FDA-approved treatment that has been performed on dozens of patients with great results. More good news: there are more than 30 clinical trials currently underway for inherited retinal disease, including several promising LCA treatments. But our work is not done. There are 26 LCA genetic variations still awaiting an approved and effective treatment. In the last week alone, we’ve heard from two individuals who have been turned down by insurance for genetic testing to
diagnose their retinal disease.

On this Giving Tuesday (December 3), we are asking for your help in making sure that every single person whose doctor tells them they have an inherited retinal disease has the ability to access a genetic test, easily and at no cost. To date, we have donated $105,000 to make it possible for families to access free genetic testing. That’s more than 100 patients we’ve helped open the door to the next steps in their journey. But there are many more still facing a closed door. We want to open it.

Between now and December 31, every dollar you donate to Sofia Sees Hope will go toward supporting free genetic testing. We thank you in advance for your support.

All About Clinical Trials

Clinical trials are never done in a vacuum, or in a medieval basement where Dr. Frederick Frankenstein (pronounced Fronkensteen), his pretty lab assistant, Inga, and faithful houseboy, Igor, create a monster.

While the creature from the 1974 movie “Young Frankenstein” turns out to be somewhat civilized, (see Gene Wilder as the young doctor and Peter Boyle as the monster doing the soft-shoe in white tie and black tails to “Puttin’ on the Ritz”), a caption above that lab team in a slide shown at the Hope in Focus (formally Sofia Sees Ho p e) second LCA Family Conference cautions: “Regulatory Oversight is Critical!”

Humor credit goes to Ben Shaberman, Senior Director of Scientific Outreach and Community Engagement for Foundation Fighting Blindness. He moderated a four-member panel discussion in a session called “All About Clinical Trials” at the July conference in Philadelphia. Shaberman reports on retinal research for the Foundation’s print and electronic publications. He also presents scientific advancements at local and national events and enjoys working with constituents to help them understand their retinal disease and current research that may benefit them.

Making sure trials are safe

Dr. Wiley Chambers II, MD

Panelist Dr. Wiley A. Chambers, the U.S. Food and Drug Administration’s Supervisory Medical Officer in the Office of New Drugs, said terrible outcomes can happen in trials not approved and regulated by the FDA.

Dr. Chambers previously cited a disastrous case in which a 77-year-old woman traveled to an alleged clinic to have “stem cells” injected in her eyes in the hope of a cure or at least help for her macular degeneration. The procedure entailed separating “stem cells” from the woman’s belly fat and injecting them into her eyes to supposedly regenerate tissue. Not covered by insurance and not federally regulated, the procedure cost almost $9,000 and caused her vision to badly deteriorate after her retinas peeled away from her eyes.

The FDA assigns an Investigational New Drug (IND) number to every legitimate clinical trial.

“Just be careful when you go to a clinical trial or a physician that it is a legitimate trial,” Dr. Chambers said. “If they can’t give you an IND number, then walk away.”

The website Clinicaltrials.gov includes trials that do have an IND number and unregulated trials that do not have an IND number. Avoid them. One must specifically ask if they have been issued an IND number, signaling the federal OK to proceed with clinical studies that happen in three phases.

Dr. Chambers also noted that trials are not for the benefit of participating patients. At the heart of a clinical trial is that researchers do not know what’s going to happen. A key word here is equipoise – a balance or counterbalance – of something.

“We do the clinical trial and find out, does this have some efficacy and is it safe?”

Clinical trials tell as much information as possible, balanced with a doable study and doable patient commitment.

“It’s a balancing act,” he said. “The trials are to help inform people afterward.”

A long, expensive process

Research studies in humans are for potential therapies; they take 10 years or more to complete and can cost tens or hundreds of millions of dollars.

It took 12 years and $500 million to research and develop LUXTURNA™, an engineered virus delivered by subretinal injections of the human RPE65 gene, a gene that, when mutated, causes a form of LCA called LCA2 (RPE65-LCA).

Tami in a pink shirt and Michael besides her in a bright orange shirt sitting at the 2019 LCA Family Conference — Tami and Michael Morehouse

Panel members Tami Morehouse and her husband, Michael, experienced firsthand what it feels like to take part in a Phase 1/2 LCA/RPE65 gene therapy trial. Intervention at earlier ages can offer better results with degenerative diseases like LCA and other inherited retinal diseases (IRDs) because photoreceptors diminish with age.

The Cleveland-area couple talked about Tami’s pioneering experience as the oldest person, at 44, to take part in the LUXTURNA trial and regain some vision.

“It’s a huge, life-changing event for us,” Michael said.

Walking in Philadelphia three days after her first injection, Tami asked her husband if a building up ahead had stripes on it. Turns out, it was a parking garage with spaces between levels appearing as solid stripes. Before the injection, she could not see any part of the parking deck; her ability to discern solids and stripes meant the treatment already began improving her vision.

Tami had some vision in college and walked across the graduation stage by herself. Michael described her progressive vision loss as, “Go on, go on, big drop; go on, go on, big drop; no diagnosis.

“She was on a path to darkness and she knew it,” he said.

Taking the risk for the reward

He heard Jean Bennett, MD, PhD, on a Sunday radio show talking about her retinal research on the emerging therapy that came to fruition as LUXTURNA. He called her office early the next day, and said to the audience, “Guess who answered the phone?” (Here’s a link to a story on Dr. Bennett’s presentation at this conference.)

Seven months later they received an email from Dr. Bennett, with the subject line: “Are you ready?”

Dr. Bennett conducted the studies with her partner in research and in marriage, Dr. Albert M. Maguire.

In answer to a question about what she was thinking before beginning the trial, Tami said, “I don’t want to go totally blind.”

“In all honesty, I never thought that I’d ever have a shot at seeing … I kind of underestimated my possibilities. I became a much more functional person in day-to-day living. I would see who’s approaching. See my kids, my (softball-playing) daughter dancing off third base, taunting her catcher.

“I got way more than I anticipated.”

Tami is part of the Sofia Sees Hope Family Connections program, calming fears and sharing her experiences with many patients along the way, including very young ones.

“Even though huge strides have been made in clinical trials, they’re very frightened, they’re very nervous.

“Jean and Albert explained so much; they relieved my fears in such a way that I’ve been able to transmit that to families, to moms. It’s a lot of pressure for some moms.

“Just being able to say that it won’t hurt when Dr. Maguire inserts a needle in your eye because you’re out like a light; that is a beautiful thing because you don’t even know what’s happening to you.”

Tami advised potential surgical patients and their parents that even though undergoing surgery has the potential to do such good by improving vision, they should think about their expectations. “We are comfortable in our own zone; give us a little bit of change and it can throw us off.”

“If mom and dad or older siblings are calmer, the children are going to be more comfortable, too.”

Setting realistic expectations

Panelist Dr. Michel Michaelides, a founding member and head of clinical ophthalmology at MeiraGTx based in New York City and London, said clinical trials impact the daily lives of study participants because they’re required to undergo multiple tests, many of which, he said, are boring and tedious.

“We spend a lot of time letting people know what they’re really in for.”

Dr. Michel Michaelides, a Founding Member and Head of Clinical Ophthalmology at MeiraGTx

Dr. Michaelides is the Principal Investigator of four interventional clinical trials and has 10 ongoing ethically approved studies. He is Professor of Ophthalmology at London’s UCL Institute of Ophthalmology in the Department of Genetics and Molecular Therapy, and Consultant Ophthalmologist at Moorfields Eye Hospital in the Departments of Inherited Eye Disease, Medical Retina and Pedriatric Ophthalmology.

Moderator Shaberman asked him what he says about therapy options to people who have lost a lot of vision. In advanced cases of vision loss, Dr. Michaelides said, optogenetics might be a relevant course of action. Optogenetics is the science of making cells in the retina that do not normally detect light, become light sensitive, and thereby aim to replace the lost light-sensitive cells (rods and cones/photoreceptors).

“The idea is to make cells that are not light sensitive, (be) light sensitive.”

Another course is retinal implant technology, also known as the “Bionic Eye” or “Artificial Vision,” in which doctors insert a light-sensitive microchip into the retina to provide a way to detect light. These implants can be placed on the surface of the retina (epi-retinal implants) or underneath the retina (sub-retinal implants). He also suggested the use of internal or external cameras with these implants, saying, “I think there’s going to be greater development in that area.”

Another avenue is stem cell therapies (cell therapies), in which donor cells could be used to grow fresh retinal cells for transplantation into the eye to replace lost cells.

He also is involved in the development of therapies using stem cells to replace lost light-detecting retinal cells. He has been Principal Investigator of the first ocular stem cell therapy trial, which involved transplanting retinal pigment epithelial cells (non-light-detecting cells) in patients with advanced St a rgardt Disease.

His clinical trial for a potential LCA4 (AIPL1-LCA) therapy currently is recruiting participants.

Dr. Michaelides’ ocular research comprises 300 peer-reviewed publications and 25 book chapters. One of those research papers came into focus at the LCA conference in July, where an audience member – a mother of a child with LCA2 (RPE65-LCA) – told her story.

“Even after an ERG (electroretinography),*” she said, “nobody told us it was LCA.”

She said reading one of his research publications on RPE65 put her family on the right track.

“That’s what we took to our doctor,” she said. “So, you’ve been really important to our journey.”

Retinal Disease Gene Therapy Breakthroughs Trace Their Roots to 19th Century Research

Theodor Karl Gustav von Leber would be proud. So would Adolphe Franceschetti and Carl-Henry Alström.

Their research from the 19th and 20th centuries laid the foundation for groundbreaking gene therapy to treat Leber congenital amaurosis (LCA) and other rare inherited retinal diseases (IRDs). Translational research focused on LCA helped bring forth unprecedented numbers of genetic clinical trials now underway for IRD treatments and cures.

Dr. Tomas S. Aleman, associate professor of ophthalmology and director of the Hereditary Retinal Degeneration Clinics at the Perelman Center for Advanced Medicine and the Center for Advanced Retinal and Ocular Therapeutics at the University of Pennsylvania, discussed the beginnings of research into retinal degeneration as part of his presentation at the Hope in Focus (formally Sofia Sees Hope) second LCA Family Conference in Philadelphia last summer.

Dr. Aleman joined three panelists in a conference session called “One Disease, Many Approaches,” moderated by Brian Mansfield, PhD, executive vice president of research and interim chief scientific officer for the Foundation Fighting Blindness.

In a research paper published in 1871, Dr. Theodor Karl Gustav von Leber recognized early-infancy severe retinal disease with pupils that are “amaurotic,” related to amaurosis, meaning dimming, darkening, dark or obscure. Amaurotic pupils do not relate to light normally, expanding and contracting more slowly than normal or not responding to light at all. A large group of early-onset inherited retinopathies causing blindness carry his name as Leber’s Congenital Amaurosis.

“His descriptions still endure,” Dr. Aleman told his audience of more than 80 people from across the country and Mexico.

The evolution of research

Dr. Tomas S. Aleman, associate professor of ophthalmology and director of the Hereditary Retinal Degeneration Clinics at the Perelman Center for Advanced Medicine and the Center for Advanced Retinal and Ocular Therapeutics at the University of Pennsylvania

Dr. Adolphe Franceschetti authored more than 500 articles throughout his life (1896-1968), realizing the retinal origin of the blindness and working on ocular genetics, Dr. Aleman said. A specific behavior comprised of poking, pressing and rubbing the eyes with a knuckle or finger to mechanically evoke perception of light is called Franceschetti’s oculo-digital sign and is characteristic of LCA. Researchers suspect this behavior in affected children may contribute to deep-set eyes and keratoconus, a condition in which the normally round cornea thins and bulges into a cone-like shape, causing distorted vision.

Dr. Carl-Henry Alström confirmed that LCA is genetic in nature, and he is credited with recognizing in the 1950s syndromic forms of LCA and other early-onset retinopathies such as Bardet-Biedl Syndrome, a rare genetic disorder with highly variable symptoms that may include retinal degeneration, obesity, reduced kidney function and many other features.

LCA occurs in 1 in 30,000 to 1 in 80,000 people and makes up 5 percent of all retinal dystrophies. Twenty percent of children with visual impairment and attending special schools have LCA.

LCA, thought of as one disease until 40 years ago, now consists of more than 27 forms.

“It’s a large pack of diseases,” Dr. Aleman said.

Decades of work toward success

He characterized LCA as a molecularly heterogenous or diverse group of diseases with most primary disease location within the cells that perceive light or photoreceptors. Dr. Aleman detailed the complexities of clinical exams, vision testing and the spectrum of severity of vision loss observed in LCA. One such scenario, known as structural-functional dissociation, occurs when the loss of vision is disproportional to the loss of photoreceptors and is frequently seen in LCA, particularly very early in life. Such scenario represents the ideal for gene corrective treatment strategies.

RPE65-LCA studies led by a group of researchers at the University of Pennsylvania dating back to the late 1990s solidly demonstrated LCA could be treated. Dr. Aleman cited the importance of the translational research and clinical trials that led to federal approval of LUXTURNA™, a gene therapy treatment for LCA2 or RPE65-LCA, saying other, more frequent and neglected diseases have gotten attention through the RPE65 story.

He singled out two researchers, Jean Bennett, MD, PhD, who joined him on the conference panel, and her partner in research and marriage, Dr. Albert M. Maguire. He pointed out that their foresight and drive pushed research beyond the initial gratification granted by the spectacular results of early multi-institutional RPE65 gene therapy trials, to fulfill the practical need of an approved treatment for use in the clinic. The treatment, which produces dramatic gains in visual sensitivity, is the first and is, to date, the only gene therapy product approved for clinical use for an inherited retinal disease in the United States and Europe.

More patients have been treated with LUXTURNA since its approval in December 2017 by the U.S. Food and Drug Administration than those who received the medication during the clinical trials.

“I like to think that if it wasn’t for Jean and Albert, we wouldn’t be where we are today,” he told the gathering of patients, patient advocates, family members, researchers, doctors and biotechnology leaders.

No cure yet; work continues

Having one retinal gene therapy approved for use in the clinic, 900 patients enrolled in trials across 30 sites, and progress on therapies for the most severe forms of LCA, Dr. Aleman said, “That should stimulate ourselves to continue.”

He noted that much work remains to be done: LCA has not been cured, and researchers do not have a solution for every type of LCA. Gene therapy may not be enough for every patient or form of LCA, and the potential outcomes after treatments should not be expected to be the same across the heterogeneous group of diseases under the LCA umbrella.

In closing his presentation, Dr. Aleman posed three questions regarding LCA treatment and research:

Can we treat hereditary retinal degenerations/LCA? “Yes, the answer is yes.
Can we defeat LCA? “And the answer is also yes.”
Do we have the tools and people to do it? “The answer is also yes.”

Dogs as test cases

In her presentation, Dr. Jean Bennett described how the RPE65 gene, when mutated, causes LCA2 or RPE65-LCA. In early research, Briard herding dogs that carried the mutated gene gained improved vision after receiving subretinal injections of an engineered virus of the human RPE65 gene. The treatment works by encoding an enzyme that converts light into electrical signals interpreted by the brain.

Dr. Bennett was one of the first investigators to use viral vectors, in which a virus is used as a vector or carrier that is genetically engineered to deliver the gene to specific cells in the retina. She is professor of ophthalmology at the Center for Advanced Retinal and Ocular Therapeutics and the F.M. Kirby Center for Molecular Ophthalmology at the Perelman School of Medicine. Please see a related story detailing her conference presentation.

Pam Stetkiewicz, PhD, vice president of program management at Editas Medicine, described a different approach using gene editing technology developed by Editas. The treatment uses molecular biology to create genomic medicine that precisely edits – by locating and removing – the targeted mutation in LCA10 or CEP290-LCA. She said the technology builds on the foundation inspired by Dr. Bennett’s gene replacement therapy.

More treatments in the works

Editas Medicine, based in Cambridge, Mass., in partnership with Allergan, based in Dublin, Ireland, use CRISPR/Cas9 gene-editing technology to accomplish DNA editing. The treatment, called EDIT-101, cuts out the mutation and is delivered to photoreceptors by subretinal injection. The editing permanently corrects the original, non-functioning protein essential for vision.

Dr. Stetkiewicz said Editas hopes to use the medicine to treat LCA10. Additionally, the company is developing experimental medicines to treat Usher Syndrome 2A and Retinitis Pigmentosa, among other IRDs. Editas is also working to develop engineered cell medicines to treat cancers and blood diseases, including Sickle Cell Disease.

The FDA approved the company’s 10,000-page data package, securing the required Investigational New Drug (IND) application to begin clinical studies with EDIT-101 in humans.

Editas and Allergan currently are recruiting patients with CEP290-LCA for a natural history study that will create the basis to test safety and efficacy in the Phase 1/2 clinical trial of EDIT-101.

Dr. Stetkiewicz said preclinical data shows that EDIT-101 is well-tolerated, efficacious and safe. Measurement of editing intended DNA versus unintended DNA is called specificity. Human retinal explants, pieces of tissue cultured for growth, treated with EDIT-101 resulted in a high level of intended editing with zero unintended editing, meaning the treatment has an excellent genomic specificity profile.

“So, we’re thrilled with this result,” she said.

Phase 1/2 clinical trials will begin in the second half of this year with 18 patients age 3 years and older at clinical sites in Massachusetts, Florida, Oregon and Michigan.

DNA, RNA, & LCA

Michael Schwartz, M.S., MBA, is vice president of ophthalmology at ProQR Therapeutics and is the global project leader for Sepofarsen (QR-110), an RNA therapy under development.

Panelist Michael Schwartz, M.S., MBA, is vice president of ophthalmology at ProQR Therapeutics and is the global project leader for Sepofarsen (QR-110), an RNA therapy under development.

ProQR, based in The Netherlands with offices in Cambridge, Mass., is developing an antisense oligonucleotide (AON) product, Sepofarsen (QR-110), designed as a disease-modifying therapy for LCA due to the c.2991 +1655A>G mutation (p.Cys998X) in the CEP290 gene. The company is developing AON products, which are RNA therapies primarily for ophthalmic inherited disease. AON are short, single-stranded RNA molecules that interact with messenger RNA to prevent translation of a targeted gene.

Sepofarsen works like genetic tape to block the mutation p.Cys998X in the CEP290 gene.

To help understand what this means, Schwartz presented background on DNA, RNA and LCA:

The body comprises many different cells, and we have DNA in each of these cells. DNA contains many instructions for making all the different proteins, which are important building blocks needed by a cell.

When the cell needs a building block, it first copies instructions to a shorter blueprint called RNA; the RNA is then used to guide how to make a new protein, like CEP290. Together, these different proteins make sure the cell works as it should, resulting in normal vision.

But things don’t always go right. Inherited diseases are caused by mistakes in the DNA, and then these mistakes are copied into the RNA, as in the p.Cys998X mutation in CEP290.

This means that the proteins also will have the mistakes in them. They can’t work properly, and the cell cannot function as it should. This is what causes LCA.

He also detailed the workings of RNA therapies, saying they consist of short RNA molecules, with the aim to repair the mutation in a patient’s RNA – without changing the DNA – and to restore the function of the protein and the cell to hopefully improve vision.

A normal CEP290 protein maintains cilium structure in the photoreceptors of the retina and enables normal protein transport to the photoreceptor outer segment.

The CEP290 p.Cys998X mutation creates an environment that results in an aberrant exon that disrupts the splicing code of genes by truncating the CEP290 protein, ultimately leading to the degeneration of the photoreceptor cells.

Sepofarsen, delivered by intravitreal injection, blocks the recognition of the aberrance, and that results in favoring production of normal protein.

“We can actually reverse the phenotype of that mutation,” Schwartz said.

ProQR is finalizing interim results of its ongoing Phase 1/2 trial involving 11 people from ages 8 to 44. Schwartz said most of the patients had clinically meaningful improvement. The company’s Phase 2/3 trial began, with the first patient dosed in April. The 24-month trial expects to enroll 30 patients.

He cited an exceptional patient responder in the Phase 1/2 trial in which an adult with only light perception vision before the trial could now read letters on the eye chart.

“They said they could see things out of the treated eye that they had not seen for decades.”

Rare Disease Advocacy: There’s Power In Numbers

Tell your story. Tell your story again. Then tell it again.

That’s the beginning of advocacy for rare disease.

“You have to be assertive and speak up. You don’t have time to waste!” advocate Terri Booker implored her audience at the Sofia Sees Hope second LCA Family Conference.

Booker, a lawyer and an advocate for people living with Sickle Cell Disease (SCD), spoke as part of a four-member, patient-advocacy panel called “Your Voice Matters!” moderated by Hope in Focus (formally Sofia Sees Hope) Executive Director Annette Tonti.

More than 80 people from 15 states and Mexico attended the July 27 conference in Philadelphia. The event brought together people living with Leber congenital amaurosis (LCA), inherited retinal diseases (IRDs), SCD, which is a group of inherited blood disorders, and Barth Syndrome, a rare genetic disorder that can cause heart failure, muscle weakness and infection.

These diseases are among the 7,000 rare diseases affecting 25 million Americans.

Kristen Steele hired a lawyer and filed a lawsuit in order to make her career dreams come true. Read her story here.

“Imagine the impact if we all get together and say, ‘We’re here! Twenty-five million people who can vote!’ ” said Booker, who works professionally and personally to help seek justice in the Philadelphia community.

Live long with advocacy

She co-founded the Young Adult Sickle Cell Alliance after her last hospitalization for SCD-related problems in 2012. Doctors with no answers asked what she usually did when symptoms occur, and she replied: “I thought I was here to get help from you.”

SCD is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body, according to the National Institutes of Health (NIH). People affected have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle or crescent shape.

“I’m talking about it every chance I get,” she said.

If someone notices she’s limping, she tells them she’s got sickle cell, a genetic disorder, “where a whole bunch of cells get together and attack your body, your heart, your eyes, your joints.”

“It’s about accommodating you and whatever it is you’re going through, to make it easier to function.”

Young people with SCD especially need to be empowered to speak up for what they need when they need it and Booker focuses on youth for a big reason: “As a child (with a rare disease), they love you. Once you become an adult, people don’t care about you anymore.”

She encouraged advocating for rare diseases by taking part in events surrounding Rare Disease Day, celebrated annually the last day of February. Rare Disease Week in Washington, D.C., and a multitude of events happen nationally and globally around that time.

“Help sickle cell patients live long with advocacy,” she said.

The more members of Congress and state legislatures hear stories from rare disease patients and advocates, the more progress will be made toward funding research to find treatments and cures.

“Don’t be afraid,” Booker said. “No one can tell your story but you.”

‘Increase the volume’

Panel member Jill Dolgin, PharmD, Head of Patient Advocacy at Applied Genetic Technologies Corp. (AGTC), said rare diseases are small diseases, and suggested a way for people with rare disease to be heard above the noise of research news on more familiar diseases.

“I call it building an orchestra,” – talking about LCA, inherited retinal diseases (IRDs), blindness and genetic testing on the internet, in social media and at conferences – so you’re all “singing the same song” and constantly increasing the volume and frequency of the messages in the song.

AGTC is developing genetic therapies to treat patients with rare inherited conditions, with its most advanced therapy programs designed to restore visual function and meet the needs of patients with rare blinding conditions, according to the company’s website.

Dr. Dolgin, a healthcare professional with more than 20 years’ global experience in public policy and patient and professional advocacy, said she brings the voice of the patient to small- and medium-sized biotechs to ensure that the needs of the patient are considered and incorporated into every aspect of drug development.

“I’m really helping one patient, one family at a time.”

‘Be involved’

Panelist Jamie Ring is Head of Patient Advocacy at Spark Therapeutics, developer of LUXTURNA™, the first approved drug in the United States and Europe to treat an inherited genetic disease and to treat the RP E65 gene which, when mutated, causes one of the more than 25 forms of LCA. She previously worked at Genzyme, a Sanofi company, where she led rare disease patient advocacy and humanitarian programs.

Ring said her role at Spark Therapeutics is three-fold.

She serves as a liaison between the company and rare disease communities: “Serving as the voice of the patient inside the walls of our organization.”

She hears directly from the community: “At Spark, it’s really critical for us to understand what the needs of the patients are. You all have a voice at that table.”

Ring also helps connect different rare diseases together to learn how they develop and progress.

LUXTURNA came to fruition after 12 years of research and more that $500 million in investment. The U.S. Food and Drug Administration gave its approval in December 2017.

“Be involved,” Ring advised the gathering. “Understanding what matters to you, matters to us.”

Panelist Emily Milligan, Executive Director of the Barth Syndrome Foundation, said she is socially and medically committed to serving underserved populations. Before leading the foundation, she launched an $80 million venture fund developing products for Type 1 diabetes and worked with the Juvenile Diabetes Research Foundation overseeing an annual $100 million research portfolio.

Barth Syndrome primarily affects boys and is a multiple-system, complex disorder caused by a chromosomal mutation. It can cause growth delay, impaired lipid metabolism and extreme fatigue. Severe symptoms can result in needing a heart transplant, contracting potentially lethal infections and even death.

The syndrome, Milligan said, can turn a scraped knee into a trip to the emergency room with sepsis, a life-threatening condition occurring when the body cannot fight infection.

The foundation, she said, became the 14th organization to host a high-level meeting with the FDA, where more than 25 percent of the Barth community, which is about 250 worldwide, told their stories. In research, a second clinical trial is underway toward changing the biology associated with Barth that could mean an improved quality of life for some.

“You have to come together,” Milligan told the group.

This family conference in Philadelphia has such an enormous impact when people gather together for a common goal, she said.

“You have no idea the power in numbers. You are a community.”