15 states with an established Rare Disease Advisory Council:
Alabama, Kentucky, Illinois, Massachusetts, Minnesota, Missouri, Nevada, New Hampshire, New York, North Carolina, Ohio, Pennsylvania, Utah, Tennessee, and West Virginia.
12 states pursuing Rare Disease Advisory Council legislation:
Arkansas, California, Florida, Georgia, Kansas, Michigan, New Jersey, South Carolina, Texas, Virginia, Washington, and Wisconsin.
23 states with no Rare Disease Advisory Council:
Alaska, Arizona, Colorado, Connecticut, Delaware, Hawaii, Idaho, Indiana, Iowa, Louisiana, Maryland, Maine, Mississippi, Montana, Nebraska, New Mexico, North Dakota, Oklahoma, Oregon, Rhode Island, South Dakota, Vermont, and Wyoming.
In the debut of Hope in Focus (formally Sofia Sees Hope) ‘Let’s Chat About …’ monthly webinar series, Ben Shaberman of the Foundation Fighting Blindness, provided his Zoom audience with a plethora of information about Leber congenital amaurosis (LCA), highlighting some of the more than 40 clinical trials underway to find treatments and cures for LCA and other rare inherited retinal diseases (IRDs) and giving updates on promising preclinical research.
The recorded webinar aired 1 p.m. Wednesday, Jan. 27, 2021, and can be seen here. Elissa Bass, our marketing and communications director, moderated the session.
Shaberman, Senior Director, Scientific Outreach & Community Engagement, stumbled across a science writing position at the Foundation Fighting Blindness 16 years ago without a clue about retinas or blindness. He called his move to the Foundation serendipitous. He knew he made the right choice after hearing retinal researcher Dean Bok, PhD, tell attendees at a 2005 Foundation conference how he was drawn to the field by the seduction of the retina’s myriad complexities and inner workings.
Shaberman, too, felt pulled by the intriguing science of the retina.
As such, so are the 27 forms of LCA that cause varying kinds of visual impairment within each gene mutation and within each affected person. An estimated 8,000 people in the United States have LCA.
The path of retinal research
Shaberman took his audience from the beginnings of identifying the RPE65 gene in 1993 and learning shortly thereafter it could lead to LCA, to using mice models and later studying Briard dogs that had the same gene mutation that caused LCA in humans. A clinical trial at Children’s Hospital of Philadelphia led to the 2017 FDA approval of the breakthrough gene therapy LUXTURNA®, developed by Spark Therapeutics. The drug successfully improved the vision of many of the LCA2-RPE65 patients who received the treatment through subretinal injections.
When children receive an LCA diagnosis, their families should find a good retinal specialist, get regular exams, and ultimately get a confirmed genetic diagnosis to be on the path to more specific information and research into that form of LCA, Shaberman said.
Families also should register with the Foundation’s My Retina Tracker®, a free and secure online registry that facilitates getting a confirmed genetic diagnosis by making registrants eligible for free genetic testing.
The registry becomes your personal retinal health record, updated by you. It employs state-of-the-art database technology to protect privacy and adheres to the highest standards of confidentiality and ethics.
It also notifies registrants of clinical trials and gives researchers access to their disease data – not their personal information – to advance research and therapy development associated with LCA and IRDs.
Reading research publications and attending events sponsored by the Foundation and by Sofia Sees Hope also provide opportunities for families to interact and learn the latest research. Shaberman and Bass encouraged people affected by LCA and their families to contact them, respectively, through the Foundation’s website and/or the Sofia Sees Hope website for specific information on clinical trials or other questions and concerns about living with LCA.
“Yes, it’s work,” Shaberman said. “You have to be your own advocate and your own child’s advocate, but more and more information is becoming available, and that’s the good news.”
More than 40 clinical trials underway
Shaberman also reviewed some of the more than 40 retinal clinical trials in the pipeline for LCA and other IRDs:
MeiraGTx offers LCA4-AIPL1 gene therapy through a compassionate use program, which means the therapy is unapproved but made available to patients with serious conditions. The company also is working on an RPE65 gene therapy in a clinical trial.
February’s “Lets Chat About …” webinar airs at 3 p.m. ET, Tuesday, Feb. 16. Our guest will be Wiley A. Chambers, MD, Supervisory Medical Officer for the Office of New Drugs, Center for Drug Evaluation and Research at the U.S. Food and Drug Administration. Register here.
The biotechnology company based in Boston and in Leiden, The Netherlands, announced earlier this month that it finished enrollment in its Phase 2/3 Illuminate study of sepofarsen for treatment of LCA10 due to the p.Cys998X mutation in the CEP290 gene.
LCA10 is a severe retinal dystrophy, causing blindness or severe visual impairment at birth or during the first months of life. The mutation affects about 2,000 people in the Western world.
Sepofarsen is an antisense oligonucleotide (AON) that works like “genetic tape” to fix the mutation. The therapy is unlike gene replacement therapies in which whole genes are delivered to replace defective copies.
The drug aims to repair the genetic defect that causes the disease in the ribonucleic acid (RNA). The mutation leads to an aberrant splicing of a person’s messenger RNA (mRNA) and leads to a non-functional CEP290 protein. Sepofarsen is designed to enable normal splicing, resulting in subsequent production of functional CEP290 protein.
Recruiting patients for clinical trials represents one of the biggest challenges in getting studies underway. The COVID-19 pandemic and concerns about spreading the virus presented an unprecedented challenge in and of itself. Pharmaceutical companies also have steered their focus from studies across the board as they raced toward developing and rolling out worldwide virus vaccines.
Finding the required 33 LCA10 individuals for the Illuminate trial in a subset of a people with a rare condition was exceptionally challenging, and ProQR exceeded that requirement by enrolling 36 participants.
During the Phase 2/3 study, the 36 patients, ages 8 and older, are set to receive sepofarsen either in a dose expected to be used once the drug gains approval or a lower dose or a placebo. The 12-month clinical trial is intended to support an application for marketing approval of sepofarsen. The study is being conducted in the United States, Canada, Brazil, The Netherlands, Belgium, France, Italy, Germany, and the United Kingdom.
Top-line results in early 2020 from the Phase 1/2 clinical trial of sepofarsen in 11 children and adults revealed that 60 percent of patients had improvements in visual acuity and navigating a mobility course. The study, carried out in the United States and Belgium, also netted a super responder, a person who responded particularly well to the treatment.
Laura Manfre, chair and co-founder of Hope in Focus (formally Sofia Sees Hope), said that as the parent of a child with an LCA diagnosis, she was told there was nothing that could be done and that her family needed to accept that their daughter would one day be blind.
“Now, in early clinical testing we have seen the potential for sepofarsen to make a significant difference for patients with LCA10 due to a mutation in the CEP290 gene,” she said. “We see hope for individuals living with this disease. We look forward to learning about the results of the Illuminate trial and continuing to work with ProQR as they advance their pipeline of RNA therapies to potentially help children, adults, and families who are affected by blindness caused by LCA and other rare inherited retinal diseases.”
Aniz Girach, MD, ProQR’s chief medical officer, said in a statement that the company was pleased to have completed enrollment of the Illuminate trial of sepofarsen.
“This marks an important milestone for ProQR, as well as for the LCA10 and broader inherited retinal disease community,” Girach said. “In surpassing our enrollment target, we were able to accommodate the broad interest to participate in the trial. This speaks to the fact that there are currently no approved treatments for patients with LCA10.
“If approved, sepofarsen has the potential to be the first therapy to address this high unmet medical need for patients who would otherwise face blindness, he said.
“We are grateful to those who have supported our efforts in bringing this trial forward, including our investigators, patients, and caregivers. We look forward to sharing the top-line results in the first half of 2022.”
Born with cerebral palsy (CP), Michael J. Kalberer grew up with a philosophy that has served him well throughout his 43 years.
“My parents raised me as an individual with a disability, not a disabled individual,” the native Long Islander recently said. “So, I never felt there was anything wrong with me or wrong with exploring something that could make things better. I didn’t feel like I had to be fixed and there’s a huge difference between those things.”
When Michael was about 10, he had difficulty with depth perception and felt sensitive to light.
“Sometimes a curb looked like a driveway, or vice versa,” when walking with his crutches.
Legally blind, Michael attributed his increasing lack of peripheral vision to CP and moved on.
After enduring an arduous transition from high school, he earned two degrees with honors: a bachelor’s in psychology and speech communications from Hofstra University and a master’s in social work from Adelphi University.
His vision dramatically worsened in his 30s. While at a New York Islanders hockey game, he looked at the scoreboard and suddenly it seemed like it was underwater.
His low-vision specialist referred him to a retinal doctor.
“He takes one look at my eyes and says, ‘Has anybody ever diagnosed you with a retinal disease?’ ”
The retinal specialist diagnosed him 10 years ago with Retinitis Pigmentosa (RP) , a group of related eye disorders that causes progressive vision loss as the retina’s light-sensing cells gradually deteriorate.
Michael said he was in shock when the doctor told him that he’ll permanently lose his sight, barring advancements, but advancements are coming.
Cataract surgery and then …
He underwent his first cataract surgery in 2012. He did more research and got involved with Foundation Fighting Blindness, where he served on a Foundation panel of doctors and described his experiences as a patient with visual impairment.
Listening to the doctor speaking before him, Michael could hardly sit still when he heard him delineate differences between Leber congenital amaurosis (LCA) and RP and realized his visual indicators aligned more strongly with LCA.
“Oh my God, oh my God, I gotta stop this guy,” he recalled saying after finishing his patient portion of the presentation. “Do not let him leave. We need to talk.”
Talk they did and two days later, he was genetically tested at New York’s Columbia Eye Clinic and received a confirmed diagnosis of LCA10, a mutation of the CEP290 gene, one of the more than 25 forms of gene mutations that cause LCA.
Since then, Michael has tracked LCA research advancements and his own experiences with his vision. He has 3 percent vision in one eye and 7 percent to 8 percent in the other. He can discern some shapes, colors and hand motions.
“I really took a hands-on, very proactive approach to navigating what my vision was like; I took control of logging, charting and tracking. It was kind of my way of taking control of the disease, so I had it and it didn’t have me.”
Michael Kalberer, left, with Katie van Benschoten of the Foundation Fighting Blindness.
He has also done fundraising for the Foundation, taking on leadership roles as a team captain for the organization’s VisionWalks and speaking at conferences.
“I can’t say enough about Foundation Fighting Blindness’s outreach and their confidence in my ability.”
Addressing the Foundation’s audience at its 2019 Dining in the Dark Spring Forward Fundraiser, he thanked the organization for helping him get a confirmed genetic diagnosis.
“The root of the Foundation for Fighting Blindness’s success is in cultivating relationships and helping change the way literally thousands of people with LCA and other (inherited rare diseases) IRDs view the world.
“How we process the world shapes who we are,” he told his audience.
Told he was ‘unemployable’
Michael also wrote an inspiring piece for the National Organization on Disability’s campaign to increase awareness of the professional ability possessed by individuals with disabilities.
Even though a career counselor once told him he was unemployable, he shared in his essay that he formed his own business called Michael J. Kalberer Presents. His company’s logo features a rising sun under the phrase “All Humanity Matters,” and he lists his roles as cultural competence presenter, communication etiquette specialist, transition planner, tutor and motivational speaker.
Michael’s life work now is educating people to maximize their personal strengths and to see others as more than their condition. He also has written an interdisciplinary curriculum to help professionals working with people with disabilities in diverse environments.
In the essay, he also described his work as a New York state licensed social worker at Family and Children’s Association, where he managed cases and helped people living with mental illness obtain and sustain employment in work environments conducive to success.
Michael attributes his feeling of empowerment to the unconditional support he continues to receive from his entire family and all his friends.
“My diagnosis of LCA could have altered the way they interact with me, but it’s made our relationships stronger. They are as emotionally invested in this journey as I am for myself, and there’s a beauty and a strength in the relationships that’s difficult to put into words.”
He did, however, capture the result of this supportive network of relationships in his closing sentence of that essay:
“I’m Michael J. Kalberer. I transcend cerebral palsy and Leber congenital amaurosis.”
When I joined the Foundation Fighting Blindness as a science writer in 2004, I really didn’t know what I was getting into. I knew nothing about the retina, let alone the complex and diverse world of rare inherited retinal diseases (IRDs) that includes Leber congenital amaurosis (LCA). But the research for treatments was cutting-edge and compelling, so I was excited to dive in and learn.
My early assignments were writing about laboratory studies coming out of academic labs. There were virtually no companies in the IRD space and only one or two clinical trials underway for emerging therapies. But there were a lot of studies of genetically engineered mice and rat models of IRDs for gaining a better understanding of disease pathways and testing potential treatments.
Truth be told, I often wondered if and when rodent-tested therapies were really going to make it into human studies and out to the people losing vision. But the scientists conducting the research were mind-blowingly smart and innovative, so I figured they knew what the heck they were doing. With a master’s degree in poetry, who was I to judge?
Fast forward about four years: I was in my hotel room in Fort Lauderdale – there for the annual Association for Research in Vision and Ophthalmology conference – when my manager called and told me three research groups just reported vision improvements in young adults treated with RPE65 gene therapies in Phase 1/2 clinical trials. That was the breakthrough we’d all been waiting for.
People, rather than animals, with severe vision loss were now seeing significantly better. It was the first time an IRD treatment had worked in humans. I will never forget the headline for the article I immediately wrote: “Now They See.” (Note: One of those RPE65 gene therapies later became LUXTURNA®, the first FDA-approved treatment for the eye or an inherited condition.)
After many years of painstaking work, our hope for treatments and cures had finally begun evolving into promise.
There have been several other aha! moments in the ensuing years, but I distinctly recall cathartic encounters at the 2019 American Society of Retinal Specialists in Chicago. As I perused the snack table during breaks (the accomplished snacking professional that I am), several representatives from biotechs developing IRD therapies – companies I’d never even heard of – came up to introduce themselves to me and tell me about their emerging IRD treatments. They didn’t know me or my role, nor had I previously known them; they were just eager to connect with someone from the Foundation Fighting Blindness to get on our radar screen.
I realized then I couldn’t keep track of all the companies (dozens) focused on IRDs and clinical trials (40-plus) underway for potential IRD treatments. But being overwhelmed felt incredibly good, and it meant more good news likely was on the horizon for saving and restoring vision.
While mouse studies are as critical as ever, I can’t remember the last time I wrote an article about one. That’s because most of my writing is now dedicated to reporting on advances, including encouraging vision improvements, being made in human studies.
Make no mistake: Much more work needs to be done before we eradicate the myriad IRDs affecting millions of people across the globe. And, of course, we cannot get more therapies across the finish line fast enough. But when I look at how incredibly far we’ve come since those early days of mice and rats, I have no doubt we are well on our way to breaking many more ribbons soon.
I must admit, when I learned that my vision was slowly deteriorating, I lost hope. I didn’t know what the future would bring. I knew that with worse vision came more accessibility barriers and was worried that these barriers would prevent me from achieving my dreams.
But my hope soon returned. I knew that I needed to make a choice. I could either feel bad about myself or do something to make a difference. I chose the second and began to plan. For me, hope is about believing the future can be better.
I wasn’t sure if there was anything I could do about my vision. Genetics had made up its mind. The science was close to a treatment, but I couldn’t count on it. That being said, many treatments were near enough to becoming reality that they would definitely affect many. This was my opportunity. I began raising money for sight-saving research, speaking at events and advocating for treatments. I’ve learned that snails move faster than medical research. It is frustrating and easy to lose hope. But, a snail’s pace is still progress!
For example, LUXTURNA®. The first FDA-approved gene therapy for an inherited retinal disease was approved in the US long before it was approved here in Canada. I’m pleased to say that it was finally approved by Health Canada in October 2020. I have the type of LCA that LUXTURNA treats, and if the provincial government agrees to fund it, I could receive this treatment soon.
The disease that causes my vision loss is advanced. LUXTURNA® will come nowhere close to giving me perfect vision. I’ve learned that having hope for restored vision and hope for life after vision loss are equally important. The best parts of life are not lost with vision loss. I have an amazing life. I have a lot to be thankful for – a good job, an incredible family, fantastic friends and opportunities to participate in accessible activities like sailing and skiing. I hope that you continue to have hope for life after vision loss too.
Jack McCormick was diagnosed in high school with LCA2. He graduated in 2018 from Canada’s Wilfrid Laurier University in Waterloo, Ontario. He is a Hope in Focus (formally Sofia Sees Hope) ambassador, helping people living with LCAs and IRDs. You can read his blog at jackdamccormick.wordpress.com
Danielle Senick of Norwich, Conn., reached out to Hope in Focus (formally Sofia Sees Hope) more than three years ago when she needed answers about her deteriorating vision.
Doctors diagnosed Danielle at age 6 months with Leber congenital amaurosis (LCA), and her parents learned that this rare inherited retinal disease (IRD) would cause retinal degeneration to the point of having little or no vision.
She could see light and shadows, but she noticed a pronounced deterioration in her vision in her early 20s. We asked Danielle to talk about her experiences since she connected with us. Here is her story.
Danielle Senick, center, with her aunt Nancy (left) and mother Patty at the 2018 LCA Family Conference in Mystic, CT
“Though the (vision) changes were subtle, they caused me to realize how little I knew about my condition and I wanted to learn more. I did a little research and stumbled across Sofia Sees Hope. I was intrigued to hear about Sofia’s story, and I wanted to learn more, so I contacted the organization. I heard back, almost immediately, from Danielle Chiaraluce, who worked for the organization at the time.
“We had a lengthy conversation and she told me that she and Laura (Manfre, Co-Founder and Board Chair of Sofia Sees Hope) were interested to learn more about me, and they invited myself and a guest to Dinner in the Dark. I was honored to be invited, and it was a very fun, yet emotional, experience. It was wonderful to have my aunt learn a little bit about what my life is like to have no vision.
“At this event I met Laura, Sofia, Danielle, David Brint, his wife, Betsy, and his son, who also has LCA, and several other influential individuals. I was so honored during the auction to see how many people were willing to contribute their hard-earned money to the cause (including my aunt who bid on a trip to Bali).
Undergoing genetic testing
“Later I spoke with David and he helped me to get in touch with Spark Therapeutics, where I underwent free genetic testing. I had not seen a specialist or done anything about trying to learn about my diagnosis in several years because I often stumbled across roadblocks and it seems that the doctors that I previously had seen were not as educated about LCA. However, this experience was much different.
“I gave a blood sample and sent it to the lab and once my results came in, I spoke with Dr. Jill Harris in great detail about my results. She made me aware that my gene mutation is LCA-CRB1 (LCA8). Unlike LCA-RPE65 (LCA2), (for which there is a federally approved treatment), information about this mutation is still in the works. There is no cure, so I knew all along not to expect a cure and that with genetic testing you must be patient. I joined My Retina Tracker® (a Foundation Fighting Blindness free, secure online registry that helps connect families and enables researchers and doctors to track progress, prevalence and other variables of IRDs to move research forward) and receive emails about any new information on the condition and still remain hopeful.
“About a year later, through social media, I became connected with Kristen Steele of Iowa. (Kristen has LCA10 caused by a
Kristen Steele
mutation in her CEP290 gene.) She is a remarkable young woman who is extremely confident, well-spoken, and independent, and like me, a very passionate licensed massage therapist.
“When I spoke with her, I was in the process of attaining my license and still in school. I was having a little trouble getting the results from my license test in braille and she told me that was unacceptable and filled me in about her journey and how hard she had to fight to pave the way to get her testing accommodations. When I set up my accommodations with the testing center all I had to do was mention her name and request my accommodations and the center provided me with everything I needed.
“For that I am very thankful. I am now a licensed massage therapist myself and although we are both busy and haven’t talked in a while, Kristen is always available if I ever have any questions about my journey. I was fortunate enough to meet Kristen by attending the LCA Family Conference in 2019 (in Philadelphia). I also attended the family conference with my aunt and mother in 2018 in Mystic (Connecticut) and was quite intrigued by all the speakers.
LCA community welcomes Danielle
“At this conference I also met two individuals that are about my age who both have children with LCA. It was wonderful to meet with them and answer some of the questions that they had about what it was like growing up with LCA and any suggestions they had about being a parent of a child with LCA. As I have received so much guidance and help along the way, it’s wonderful to give back by helping others and giving them advice.
Deanna Carroll and Ashlyn Lincoln with their matching white cane tattoos.
“I have stayed in contact through social media and text messaging with these two individuals, Deanna Carroll and Ashlyn Lincoln, and have potential plans to go down to North Carolina and meet their children! I was able to meet up with them again in 2019 for the Philadelphia family conference. I brought my brother with me as a guest and he was also intrigued to learn so much about my condition.
“There was a plethora of informative speakers from all over the country, and it was amazing to see how far research had come even since 2018 at the last conference. I was especially intrigued to hear Tami’s story (Tami Morehouse, from Ohio, underwent RPE65 gene therapy as part of the LUXTURNA® treatment clinical trials) and how much it changed her life.
“I became quite emotional when she described all the little things that had come from it and changed her life, such as being able to go to her children’s socc
er games and cheer them on, actually being able to see them score goals, where before she had to rely on others to describe what was going on.
“The main takeaway from this process has been to continue to remain hopeful and stay involved. It is quite a process and the research is quite extensive and costly, so we would not have been able to come as far as we have without the generosity of others involved with Sofia Sees Hope.
“It’s amazing to see what a little bit of poking around on the Internet has led to and how much it has changed my life. My curiosity and doing a little bit of research to learn about LCA led to my becoming involved with Sofia Sees Hope, receiving genetic testing, attending wonderful events and conferences, and meeting truly amazing individuals, both sight-impaired and sighted.”
Building on her son’s love of music, singing, moving, and reading, Laura Steinbusch created a multilingual children’s songbook called Lux+Louiseto help youngsters learn music by braille.
With songs in Dutch, English, French and German, the songbook’s characters, Lux the lizard and Louise the mouse, help expose children with blindness or visual impairment to learning other languages from an early age and allow them to independently explore the world.
Laura came up with the idea because her son, Enzo, now 6, easily learned new words early on through songs in French or English, especially when he already knew them in Dutch.
Enzo was born in 2014 in Lausanne, Switzerland, and genetically diagnosed at 18 months with LCA10-CEP290, a form of Leber congenital amaurosis causing severe retinal dystrophy because of mutations in the CEP290 gene. Enzo lives in The Netherlands with his mom and his dad, Merlijn, and his new little sister, Maud.
He started to learn braille when he was 5 and he enjoys it a lot, his mom said.
“His favorite story is ‘the story of the little mole who knew it was none of his business,’ which we had to buy in the four
Enzo and his mom Laura at an Austrian playground listening to sounds from a cowbell glockenspiel.
languages of my songbook because he wants to know the whole story in those four languages.”
Lux+Louise contains five popular children’s songs with printing in black and in braille and six visual and tactile illustrations with explanations and questions. Along with singing about a bus and a spider, the book helps with learning body parts and movement.
“This makes it easier for blind children to connect the song texts to the tactile illustrations and the real world,” Laura said. The songs can also be played on the piano or flute.
“Most children adore singing; some children even sing before they speak,” she said. “Blind or visually impaired children use their hearing all the time and mostly enjoy music and making noise … Independence is also important for learning music. It would be best if blind children could learn reading braille music as soon as they have learned to read braille text.”
The songs are: “A Ram Sam Sam,” “Head Shoulders Knees and Toes,” “Are You Sleeping (Brother John)?” “The Wheels on the Bus,” and “Itsy Bitsy Spider.”
“I hope people enjoy learning another language through music and learn to read music braille,” Laura said. “In the end, I hope it helps blind kids explore the technical world on their own.”
I first heard about coronavirus on my way back from a weekend of skiing in mid-January. It seemed to be the only thing the radio station we were listening to was talking about. At the time, COVID-19 was only reported in China and I didn’t think it would ever impact my life. I’ve never been so wrong.
On March 13 I was scheduled to fly to Australia for a dream vacation with my childhood friend. I was subscribed to travel advisories issued by both the Canadian and Australian governments. I woke to an email from the Australian government advising against all travel. I phoned my friend. We needed to cancel the trip. I don’t think he appreciated the 5 AM call. We made the right decision. By noon Canada had issued its own travel advisory. I have never spent so much time on hold and hope to never again. Eventually I received refunds for the flight and hotels. This was only the beginning.
I work in the human resources department of a hospital. I spent the time I had planned to be on vacation working non-stop. We had to keep our patients and staff safe. Government guidelines seemed to change every day. We didn’t have enough staff. Everyone in our department was working three jobs.
Jack and his guide dog Jake
I had no food. I had eaten everything – not wanting to return from Australia to rotten food. As someone with a visual impairment I get assistance from a store employee when I do my groceries. Getting this assistance meant being physically close to someone who wasn’t part of my regular interactions – something I didn’t feel comfortable doing given the pandemic. The alternative was delivery and it was near impossible to book a time. When I finally did, the shopper couldn’t find most of the things I had requested because people were buying up everything. I soon ran out of food again. Someone from work offered to help me do my groceries. The shelves were empty. It felt like something out of a movie.
We fell into a new rhythm at work. I lost count of the number of people I hired. To limit the number of people in the hospital, those who could work from home did. This included me most days. I hardly left my apartment.
Even now, there isn’t much to do outside work. We are all struggling. We don’t know when it will be over.
Throughout this experience my vision loss has created a host of challenges. It has also helped me live in the pandemic. With decreasing vision, I have learned to adapt to change – something we have all had to do in 2020. My vision loss has made me stronger. Living through the pandemic will do the same for you.
For me, I’ve learned more about pain, struggles and the power of connection. I’ve learned to acknowledge the challenges I experience and connect with the people who are important to me (even if it is virtually) to support each other because we are better together even when we are far away.
Jack McCormick was diagnosed in high school with LCA2. He graduated in 2018 from Canada’s Wilfrid Laurier Universty in Waterloo, Ontario. He is a Hope in Focus (formally Sofia Sees Hope) ambassador, helping people living with LCAs and IRDs. You can read his blog at jackdamccormick.wordpress.com
Since its launch in March 2018, breakthrough gene therapy LUXTURNA®™ continues to be successful in helping improve vision in people with inherited retinal disease due to mutations in both copies of the RPE65 gene and viable retinal cells as determined by a healthcare professional. The therapy treats LCA2, known as LCA/RPE65, one of more than 25 forms of Leber congenital amaurosis.
The drug – developed by Spark Therapeutics and a team of retinal research superstars that included Dr. Katherine A. High and Dr. Jean Bennett – came to fruition after 12 years of research and millions of dollars in investment.
Spark Therapeutics could not comment on the number of people who have received the gene therapy, but spokesman Kevin Giordano recently said the company has shipped well over 200 vials of the therapy since the U.S. Food & Drug Administration approval in December 2017. One vial of the drug treats one eye.
Trained retinal surgeons at one of the 10 eligible treatment centers in the United States deliver the gene therapy to the back of the eye by subretinal injection using a needle the size of an eyelash; about a week or so later, the patient undergoes the procedure in the other eye.
“Spark Therapeutics is thrilled patients continue to benefit from LUXTURNA (voretigene neparvovec-ryzl),” Giordano, Spark’s External and Product Communications Lead, said. “A gene therapy is a major milestone, not only for those of us at Spark, but also for the patient community and broader gene therapy field.”
The cost of the drug – $425,000 for each eye – initially caused anxiety among patient families, but Giordano had good news about insurance coverage.
“Payer coverage has exceeded expectations, and to our knowledge no treatment-eligible patient has been denied treatment due to their insurance coverage,” he said.
LUXTURNA also is being used beyond this country through license and supply agreements with Novartis, which has the rights to commercialize the drug in Europe and all other markets outside the United States. Spark manufactures and supplies the gene therapy to Novartis, according to Giordano.
Also, results from ongoing studies continue to support the drug’s safety profile and efficacy.
“In 2019, Spark presented four-year durability data from the LUXTURNA Phase 3 clinical trial,” Giordano said.
“We closely watched the clinical trials and the FDA approval process for seven years, starting when Hannah was diagnosed with LCA/RPE65 at just a few months of age,” Amy said. “Seven years of hope.
“Two years out from Hannah’s surgery, I can say we feel grateful and fortunate that she was treated with LUXTURNA. No regrets. LUXTURNA was hope realized. It delivered what it promised.”
She said what that has meant for Hannah has been nothing short of life changing.
“It has given her more independence, which has been wonderful for her self-confidence. It has given her the ability to see what she couldn’t before.”
Since the surgery, Hannah’s vision in dim lighting and her visual acuity improved. She is now 9 and just finished third grade.
Sometimes, her mom said, it’s the little things that are the most amazing.
“A year after the surgery, she was about to eat hot oatmeal and said, ‘Hey, I see steam. Hey, I can see that,’ ” Amy said.
“There are still things that pop up that she’s seen for the first time, like when she said, ‘Mom, did you know there’s a pattern on this toy?’ It’s fun to see her discovering.”
Amy said she and her family will be forever grateful to Dr. Bennett.
“There has been a lot of talk about heroes recently and Dr. Bennett is our hero. We are grateful for this groundbreaking treatment that she developed, that has been life-changing, not only for our daughter, but also for the sons and daughters and loved ones of so many others as well.”
His mom, Sarah St. Pierre Schroeder, told us that her now-11-year-old is doing amazing and only occasionally has issues with dim lights, “but nothing like before.”
Their days in Mount Dora, Fla., have changed in a major way.
“He still starts his day with his trusty smoothie and waffle, but after that, Creed wants to create new pranks (today was putting ice in the tub). He said it was nice and warm so I could soak my feet.”
Creed Pettit
Creed now loves to play board games – Trouble, Sorry, Battleship and Uno.
“His vision has changed everything. He can manipulate small objects, he is using pointer fingers, and loves trying to roll his eyes in the mirror.”
Creed still likes to draw, and he loves riding and popping wheelies on his bike named Carlitos. He also likes to talk.
“Talking more is an understatement! Sunup to sundown, he is talking. He has also learned how fun it is to use his imagination, something he never did before. He creates awesome stories during this time. He is so much more independent; I have to remind myself of that often.”
At first, she and her husband, Chad, could see that Creed’s vision improved some, but once he became confident about his gene replacement, they noticed him finding toys and games.
“He was suddenly enjoying things he didn’t before. He now expresses when he can’t see. Yesterday it rained all day, I kept waiting for him to tell me it was too dark inside, but he was fine. He just started doing staring contests. I love looking at his eyes during the contest.”
Sarah said she is incredibly grateful.
“Creed’s surgery is something we still thank God, St. Raphael, St. Lucy and Sister Miriam Teresa, for every night.”
Like many kids across the country, Creed finished school at home because of the coronavirus pandemic. He graduated from fifth grade and thought because he finished school at home, he wouldn’t have to wear the graduation cap.
“But I was not going to let that slide,” his mom said. “I made one and took pictures.”
Anxiety, and a Friend to Call On
Throughout his journey, though, Creed felt anxious, something Sarah had learned that might happen when, before Creed’s surgery, she talked with Tami Morehouse, a LUXTURNA clinical trial participant at age 44.
Tami, a Sofia Sees Hope Ambassador, tries to calm fears and advises potential gene therapy patients and their parents that even though undergoing the surgery has the potential to do such good by improving vision, they should think about their expectations, especially with children.
“We are comfortable in our own zone; give us a little bit of change and it can throw us off,” Tami said.
Sarah understands.
“He started to have a lot of anxiety. He had a hard time sleeping. I feel everything changed so fast that he was overwhelmed, but we have worked hard on getting past that.”
Sarah and her family are in a great place now. But after they were home from the hospital in Miami and settled into their routine, she said she became very emotional.
“All the tears I had held in for nine years started to come out. I felt I no longer had a purpose; I was so used to staying busy. I did not know who I was supposed to be.”
She got some help and realized she still was needed because people need her help learning about and understanding this groundbreaking gene therapy.
“I still find myself shocked over how this has changed Creed’s life and so many other lives.”
