Tami Morehouse is grateful for improved vision after undergoing groundbreaking gene therapy treatment at age 44 for LCA2 RPE65, but at times she still is sad and disappointed at the difficulties presented to her as a person with some functional vision, but who cannot see well.
Mohamed Farid found life living with LCA5 more challenging as a child than as an adult, especially before screen readers and other assistive technology. The young professional also remembers growing up and his grandmother spending a lot of time convincing him he couldn’t be a pilot.
Mirielle St. Arnaud, a junior in high school living with LCA caused by a mutation in her IQCB1/NPHP5 gene, tries to get involved with clubs and activities to ward off struggles with socializing. She learned to adapt to change and said her experiences with vision challenges have been good.
Tami, Mohamed, and Mirielle talked about their day-to-day lives, challenges, and feelings at our 2023 LCA Family Conference* in Indianapolis in late June. They took part in a panel discussion called Living with LCA, moderated by Beth Borysewicz, an educational consultant with the Connecticut Department of Aging and Disability Services with Bureau of Education Services for the Blind.
These three people – an LCA research pioneer, a young professional, and a high school student – help illustrate the manifestation of research advances and assistive technology in the last decade or so.
Here is what they shared with more than 100 people convened for the third Hope in Focus LCA Family Conference.
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Tami Morehouse
Tami, 59 and from the Cleveland area, is thankful to see with more brightness following her participation in a pioneering clinical trial for what now is known as LUXTURNA®, the only federally approved treatment for one of the 27 identified forms of LCA – LCA2 RPE65.
She gained some vision in 2009 and 2010, when she received the treatment under development by Spark Therapeutics.
“My whole world was a lot brighter,” she said.
She could see a cup on the table, gorgeous sunsets, the lush green of spring, and details in the faces of her three children. It also improved her parenting skills.
“Mom can see things now,” she joked. “It’s bittersweet in our world.”
She also feels she lives in a kind of limbo between seeing and not seeing. She wished and still wishes the public would be more receptive to her being between having sight and not having sight, rather than completely blind.
Tami Morehouse
Tami’s world has widened, and she enjoys much happiness since receiving the gene therapy. She is a Hope in Focus Ambassador, working with our Family Connections program, reaching out to people living with LCA, offering them comfort and kindness. The research pioneer works as an information and referral specialist for 211 in Ohio.
People in the LCA community, like others dealing with a rare disease, experience anxiety, depression, and social isolation.
Tami opened up at the conference, sharing struggles to maintain mental wellness.
She experienced a lot of awkward moments and has worked at becoming comfortable with who she is as a blind person.
“There are so many times when I’m very sad and disappointed about my limitations. There are a lot of barriers in the way and that’s hard to take.”
She misses experiences she could have had with her children and husband and parents.
“Those are just facts of life. Those are my facts, but I think many others go through the same.
“Sometimes we just feel the burn.”
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Mohamed Farid
Mohamed Farid navigates life with LCA deftly, now that he is an adult.
“It’s harder growing up. It’s easier when you’re older.”
Life became easier with innovative technology, such as screen readers and other optical character-recognition technology that extracts and converts data into a machine-readable form.
“It’s all about assistive technology,” he said.
Mohamed Farid
The 36-year-old founded MKF Continuity, a middle-market investment firm in Chicago. He earned an MBA from Harvard Business School.
There was a time when he was running away from his blindness.
“Now, I’m just ‘whatever’. I need to be independent. It’s important for my dignity. I don’t want to be relying on people.
“Every once in a while, I think the world is unfair,” he said, but over time he’s developed self-acceptance and is at peace with his blindness.
He compared his moving through life now not even thinking about his blindness to his perception of his vision as a child.
“My grandma had to spend a lot of time convincing me I could not be a pilot.”
In contrast, as an adult at his workplace, people think he can create slide presentations.
Mohamed said his blindness has made him strong, describing himself as “alert, scrappy, and resilient.”
***
Mirielle St. Arnaud
Mirielle St. Arnaud, a 16-year-old from the Chicago area, said she’s dealt with people who assume she’s not a capable person.
“We’re probably more resourceful than you think,” she said.
Mirielle is a junior in high school, where she runs on the cross-country team with a guide and is a captain of the Congressional Debate team.
Mirielle St. Arnaud
She learned to advocate for herself and set boundaries for others.
Mirielle worked at her difficulties with socialization at school by getting involved in the blind and sighted communities, whether through summer camps or extra-curricular activities, and by meeting as many people as she can.
“At some point, you’ll find your people who will understand you.”
She characterizes her ability to see as “Swiss-cheese vision.”
At school, she collaborates with an advocate throughout the year, using an Independent Education Plan as a guide.
Mirielle said vision specialists collaborating with her schools have been especially helpful along the way. She’s worked with Teachers of students with Visual Impairments, who are educators with expertise with the visually impaired, and Orientation and Mobility specialists, who teach safe and effective navigation through environments.
“I’ve had pretty good experiences,” she said.
***
Wrapping up the session, panelist Mohamed Farid left the audience with this message:
“Our journey can be bumpy. Don’t ever give up hope.”
*Please go to our Hope in Focus website to see three more stories detailing sessions from our 2023 LCA Family Conference. Click here to see a video about the conference.
Here’s what you need to know about advocating for advanced treatments for Leber congenital amaurosis: Get genetically tested, get legislatively connected, and get enrolled in a patient registry.
The Hope in Focus 2023 LCA Family Conference* panel on Advocating for Treatments repeatedly returned to this action trio to move treatments forward for this rare inherited retinal disease (IRD) affecting about 8,000 people in the United States and 160,000 worldwide.
Jonathan Stokes, Senior Director of Patient-Centered Outcomes Research with the biopharmaceutical company AbbVie, moderated the five-member panel at the June 23-24, 2023, LCA family-centered conference in Indianapolis. This session marked the first of four for more than 100 people gathered at the conference.
Genetic Testing is Critical
Emily Place, Senior Genetic Counselor and Manager of Genetics and Genetic Counseling at Massachusetts Eye and Ear, said the first place to start is to get genetically tested, a process becoming easier with time. An open-access genetic testing program managed by the Foundation Fighting Blindness creates a smoother journey to finding the specific gene causing a mutation resulting in LCA or other IRDs.
Your new confirmed genetic diagnosis opens the door to advocacy groups and researchers working to develop treatments and cures for blindness.
The National Society of Genetic Counselors (NSGC) offers in-depth genetic testing information, including a search tool to help find a certified genetic counselor in your area.
Emily said listening to the voice of the patient is the way to move research forward. And, in the rare inherited retinal disease world, that begins with genetic testing and genetic counseling.
A genetic test provides one of three results: Positive, negative, or inconclusive.
A positive result means the test found mutations in a specific gene that can identify the cause of vision impairment.
A negative result means the test could not identify a specific genetic cause for the disease, but it does not rule out a retinal disease diagnosis.
An inconclusive result means the test didn’t find helpful information about the gene in question. Because it can be difficult to distinguish between a disease-causing gene and a harmless gene variation, follow-up testing or periodic review of the gene over time might be necessary.
Emily said it’s important to stay connected with your genetic counselor for support along the way, especially with an inclusive result. As the knowledge base of genetic data grows, future tests could garner more definitive results.
Genetic testing information can be found at Hope in Focus, which has contributed more than $200,000 to help support the Foundation’s free access to genetic testing.
Empower U.S. Senators and Representatives to Advocate for LCA
Our panelist from the U.S. Food and Drug Administration agreed with importance of genetic testing. Wiley A. Chambers, MD, Supervisory Medical Officers of the Office of New Drugs for FDA’s Center for Drug Evaluation and Research, also advised bringing information to Congress for action. He and his eight-member team have signed off on 200 approvals of new drugs.
“The best place you can make an important impact is to talk with your representatives and senators,” Dr. Chambers said.
A good place to start is with their staff of congressional aides, who can synthesize and relay relevant information to lawmakers.
He noted a key change at the FDA in the 1960s that informs the current drug approval process.
In October 1962, Congress passed the Kefauver-Harris Drug Amendments to the Federal Food, Drug & Cosmetic Act, which contains regulatory requirements defining the FDA’s level of control over these products. Before marketing a drug, firms still had to prove safety; now they also need to provide substantial evidence of effectiveness for the product’s intended use. This requires adequate and well-controlled studies, and, before marketing, the FDA needs to specifically approve a marketing application, according to the FDA.
Dr. Chambers emphasized that any clinical trial needs to show what the product is going to do to benefit a particular individual. He cited one of the endpoints or outcomes – early in Spark Therapeutics‘ gene therapy trial – that enlarged the size of the pupil.
“So what?” he said. “That’s not an endpoint that is meaningful to any individual.”
An endpoint of value would improve vision, slow, or stop vision loss, and help with daily activities.
Panelist Jacose Bell, Senior Patient Advocacy Lead at Spark Therapeutics, said the clinical trial at issue needed light as a factor as an endpoint.
Spark redesigned its trial to include a relevant endpoint instrumental in demonstrating how voretigene neparvovec could improve vision in LCA2 RPE65 patients, leading to the approval of LUXTURNA®. The endpoint – a multi-luminance mobility test (MLMT) – measured functional vision or how a person navigates in a vision-related activity across a range of light levels in daily living.
Engage state lawmakers to advocate for LCA advances
Reaching out to congressional aides is important, and even before taking that action, people can inform and raise awareness of the needs of the LCA and IRD community on local and state levels. This means calling, writing, or emailing your governor and state representatives and senators. It means acting and being participatory.
The National Organization for Rare Disorders (NORD) runs a state-by-state Rare Action Network that works to establish Rare Disease Advisory Boards or RDACs. Connecticut, headquarters for Hope in Focus, recently became the 24th state establishing a council specifically to address the complexities of living with a rare disease (including LCA and other IRDs), caring for someone with a rare disease, gaining access to treatment, and getting better insurance coverage.
The RDAC gives patients, families, caregivers, healthcare providers, advocates, researchers, and other stakeholders the opportunity to make formal recommendations to state agencies and the legislature to improve the lives of people living with rare disease and their caregivers.
Click here to find out if your state has an RDAC or is developing one and you would like to help make it a reality.
Lighthouse Guild also provides medical assistance and social support to people who are blind or visually impaired so they can fulfill their goals and live with independence.
EveryLife is another resource providing help for people living with rare diseases, including LCA and other IRDs.
Results of surveys filled out by people living with LCA and other IRDs also help define areas in need of advocacy, resources, and research.
LCA and IRD Patient Registry – My Retina Tracker®
Panel member Laura Manfre, Board Chair and Co-Founder of Hope in Focus, centered on patient registries as a driving factor in advancing treatment.
“MRT, MRT, MRT,” she said as a mantra to the group. MRT – My Retina Tracker® – is an online, confidential registry of people with rare retinal degeneration, including those with LCA or other IRDs.
Foundation Fighting Blindness launched and manages the registry with the purpose of enabling people with inherited retinal degenerative disease, their doctors, and researchers to actively collaborate in the research process.
To optimize the power of MRT, registrants should seek a genetic diagnosis, which the registry facilitates by making registrants eligible for free genetic testing.
Patients share information about the history, progression, and personal impact of their disease, they authorize their doctors to add their diagnosis and clinical information to their profile, and they take part in research studies when identified and contacted through MRT by researchers as potentially good subject for their studies.
The larger and more detailed the registry, the more beneficial the data becomes to doctors and scientists in helping advance research.
Another specific way to bring research to the labs and new treatments to market is through patient advisory councils established by biotechnology companies.
Panelist Jill Dolgin, PharmD, Executive Director of Global Patient Advocacy & Scientific Management for Beacon Therapeutics, said she even brings people into the lab to explain in plain language the complexities of clinical trials. This brings a broader understanding and familiarity to people who potentially might participate in trial research, including natural history studies of patients.
“You’re the experts,” Jill told her audience. “We’re not.”
Natural history studies identify demographic, genetic, environmental, and other factors shaping the drug development process. They give scientists and researchers a better estimate of the prevalence of the disease, help identify potential biomarkers, affect clinical outcome assessments, and determine the feasibility of established assessments for clinical trials.
Finding people to take part in research into a rare disease is inherently difficult, so reaching out to patients and helping them learn about the process helps expand the pool of potential participants.
Dr. Chambers says he hears about the difficulties of natural history studies from both sides, with researchers saying they can’t find patients to take part in the study, and patients saying they can’t find the study in which to participate.
“The starting point for each of these is genetic testing,” he said.
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Hope in Focus would like to thank this session’s moderator, Jonathan Stokes, and its panelists, Emily Place, Dr. Wiley A. Chambers, Jill Dolgin, and Jacose Bell.
*Please see our Hope in Focus website for three more stories detailing sessions from our 2023 LCA Family Conference. Click here to see a video about the conference.
Our 2023 LCA Family Conference in Indianapolis offered many reasons to feel hopeful about more retinal disease treatments coming to fruition and in less time than the dozen or more years it’s taken to bring a therapy to market, despite the deep complexities and tremendous expense of researching and developing LCA therapies.
More than 100 people gathered in late June from around the globe in Indianapolis for the Hope in Focus LCA Family Conference – making friends, meeting researchers, and establishing connections to help better navigate life with Leber congenital amaurosis, a rare inherited degenerative retinal disease.
The conference succeeded in its goal of creating an ideal environment for thoughtful and interactive exchanges of knowledge, ideas, and viewpoints in sessions focusing on research, future treatments, advocacy, shared stories, and connections with people traveling similar journeys.
The Hotel Omni Severin’s mezzanine on Friday, June 23, to Saturday, June 24, buzzed with the sounds of LCA families socializing with conference speakers and families, kids with LCA running around having fun, and grownups meeting other adults living with the rare disease.
As one caregiver said of the event: “This is fantastic! I’m getting answers to questions I didn’t even know how to ask.”
People from the Midwest, the rest of the country, and around the globe – from Canada, Mexico, Turkey, and China – converged in the Racing Capital of the World to hear from LCA families, retinal doctors, researchers, advocates, and representatives of the biotechnology and pharmaceutical industries.
A mix of kids and caregivers attending the 2023 Hope in Focus LCA Family Conference in Indianapolis
Navigating the LCA Ecosystem
Laura Manfre, Board Chair and Co-Founder of Hope in Focus, welcomed the group to our third LCA Family Conference, and its first in four years because of in-person social limitations caused by the COVID-19 pandemic. The next conference is set for 2025.
Advancing treatments for LCA is part of an ecosystem many may not have thought about before being thrown into it with a rare disease diagnosis, Laura told the group.
“No one asked to be a part of this disease or came into this knowing how to navigate this journey for their child, their family, or themselves,” she said. “We are all figuring it out as we go, and the more we can connect with one another, the better we are able to learn and share and support one another.”
Hope in Focus gathered representatives from this LCA ecosystem – from pharma and biotech, to regulatory to research and healthcare, with each stakeholder playing a critical role necessary to developing treatments for LCA.
“We all need one another to make this work.”
Even having the kids at the conference get together for a day at the Children’s Museum of Indianapolis, while their parents attended panel discussions, marked a milestone of sorts for children with LCA.
“How often does that happen that sighted and visually impaired siblings get to be in a group together like that? It’s really cool.”
Laura, her husband, Charles Priebe, and their good friend Elisse Rosen founded Hope in Focus nearly 10 years ago to raise funds for research, after doctors told Laura and Chuck their 11-year-old daughter Sofia had LCA17 caused by a mutation in herIQCB1/NPHP5 gene.
Laura explained Sofia’s absence from the conference, where she had planned to talk about living with LCA.
“She is now 20, a rising junior in college, and her vision is getting worse,” Sofia’s mom said. “Yes, she was supposed to be here and be on a panel, but she finally, after years of waiting, got a guide dog and is just wrapping up two weeks of training with her new dog.” (By the end of the conference, Sofia received her new pal, a beautiful black lab named Winsome.)
Laura learned raising funds was important, but money alone doesn’t solve the issue.
“Personally, and, for Hope in Focus, the last decade has been a learning experience of all the things that need to come together to pave the way for treatments for ourselves and our children.
Lennon Schleihauf hugs her new doggie. She and other children at the Hope in Focus LCA Family Conference received the plush toys as a gift from Two Blind Brothers. Each dog’s name is embossed in Braille on one of its ears.
“That’s everything from making sure our community has access to genetic testing and is getting diagnosed and not misdiagnosed, which is still an issue in some regions. It includes participating in patient registries and in Natural History studies. It means advocating for policy changes with our legislators, and making sure we are well-informed and educated, and we are all heard.”
Zero to more than 30 Clinical Trials
Ben Shaberman, Vice President of Scientific Communications for the Foundation Fighting Blindness, told the group when he started at the Foundation in 2004, research into blindness consisted of lab work with mice and sometimes dogs, not humans.
Four years later, researchers at Children’s Hospital of Philadelphia began clinical trials for a drug to treat LCA2 RPE65. In 2017, after 12 years and $500 million in research and development, the gene therapy LUXTURNA® received regulatory approval. It is the first treatment in the United States for any inherited disease and the only treatment shown to restore vision in people living with one of the 27 identified forms of LCA.
Today, about three dozen clinical trials involving retinal disease are underway, with 40 biotechnology companies investing in the development of a range of treatment therapies.
“It really is an ecosystem, and you are so much a part of that,” said Ben, who also is an Advisor to Hope in Focus.
He also talked about CRISPR/Cas9, a gene-editing therapy in clinical trials for LCA10 CEP290.
“This was the first ever clinical trial for CRISPR/Cas9, and it was in the retina, and it was for LCA. That clinical trial moved the whole field forward.”
With LCA affecting 8,000 people in the United States and 160,000 globally, Ben told the audience:
“You are moving mountains. Please, please, please, do not underestimate the power that you have to move this forward.”
Hope is Imperative
Years ago, Laura said, someone told her having the word ‘hope’ in our organization’s name was a mistake because hope isn’t a strategy and wouldn’t get us anywhere.
“He’s wrong. Hope is a very powerful thing. And it’s the bedrock of why we founded this organization, and why we still exist. Ten years ago, we didn’t have a single treatment in sight, and we only had hope – hope that someday there just might be a treatment for our child.
“And it was from that hope that this organization was built and continues to grow. There’s not a single person in this room that came here thinking, ‘This is never going to happen, but I’m going to go to Indy anyways.’
“No, everyone is gathered here today because we have some kind of hope in focus – hope to learn something new about this rare disease community, hope to make a meaningful connection with someone else on this journey, hope to bring new information back to organizations in their country, or hope to be the one that brings the next LCA treatment to market.”
*Please see our Hope in Focus website for three more stories detailing sessions from our 2023 LCA Family Conference. Click here to see a video about the conference.
People living with LCA, family members, retinal doctors, researchers, advocates, and representatives of the biotechnology and pharmaceutical industries converge in the racing capital of the world this weekend, when Hope in Focus presents its third LCA Family Conference.
A global advocacy organization helping those affected by blindness, Hope in Focus connects families living with Leber congenital amaurosis (LCA) and other rare inherited retinal diseases (IRDs) through its Family Connections program and through events such as this conference at the Omni Severin Hotel in downtown Indianapolis from Friday, June 23, to Saturday, June 24.
The gathering creates an ideal environment for creating opportunities for thoughtful and interactive exchanges of knowledge, ideas, and viewpoints in sessions focusing on research, future treatments, advocacy, people sharing their stories, and making connections with people traveling similar journeys.
The conference is sponsored by Spark Therapeutics, Foundation Fighting Blindness, MeiraGTx, Janssen, Atsena Therapeutics, Ocugen, and Kiora Pharmaceuticals. We offer special thanks to Eighty Six Media, Indiana School for the Blind and Visually Impaired, Scott D. Allison, OD, MBA, Lori St. Arnaud, and Lee St. Arnaud.
Courtney Coates, Director of Outreach and Development for Hope in Focus, and Laura Manfre, Board Chair and Co-Founder of our organization, kick off the event by sharing the ways in which we are supporting the LCA and rare IRD community.
Our first panel is about Advocating for Treatments, moderated by Jonathan Stokes, AbbVie’s Senior Director of Patient-Centered Outcomes Research. Panelists are:
* Jacose Bell, Senior Patient Advocacy Lead at Spark Therapeutics
* Wiley A. Chambers, MD, Supervisory Medical Officer of New Drugs, Center for Drug Evaluation at the U.S. Food and Drug Administration
* Jill Dolgin, PharmD, Executive Director of Global Patient Advocacy & Scientific Engagement at Beacon Therapeutics
* Laura Manfre, Co-Founder and Board of Directors’ Chair
* Emily Place, MS LCGC, Senior Genetic Counselor and Manager of Genetics and Genetic Counseling at Mass Eye and Ear
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A second panel explores Living with LCA, moderated by Lee St. Arnaud, a father of two teen-agers living with LCA. Panelists are:
* Beth Borysewicz, Educational Consultant, State of Connecticut Department of Aging and Disability Services with the Bureau of Education Services for the Blind
* Mohamed Farid, Founder and CEO, MFK Continuity
* Tami Morehouse, LCA research pioneer, who lives with LCA2 RPE65 and volunteered for the first clinical trial for gene therapy
* Patrick St. Arnaud, who lives with LCA17 IQCB1/NPHP5 and is a high school senior
* Mirielle St. Arnaud, who lives with LCA17 IQCB1/NPHP5 and is a high school junior
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A session will be held on LCA Drug Development by our partners at the Foundation Fighting Blindness. The speakers are Chad R. Jackson, PhD, Senior Director of the Foundation’s Preclinical Translational Research Program, and Ben Shaberman, Foundation Vice President of Science Communications.
***
Another panel will discuss Gene Agnostic Therapies, moderated by Chad R. Jackson, PhD, with panelists:
* Huma Qamar, MD, MPH, CMI, Head of Clinical Development and Medical Affairs at Ocugen
* Eric Daniels, MD, Chief Development Officer at Kiora Pharmaceuticals
* Ben Shaberman, Vice President of Science Communications at Foundation Fighting Blindness
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The last panel will discuss Gene Therapies for LCA, moderated by Ben Shaberman of the Foundation. Panelists are:
*Shannon E. Boye, Founder and Director and Acting Chief Science Officer at Atsena Therapeutics
* Ash Jayagopal, PhD, Chief Scientific Officer, Opus Genetics
* Thomas Mendel, MD, PhD, Assistant Professor of Ophthalmology, and Vitreoretinal Surgeon, Havener Eye Institute, Department of Ophthalmology & Visual Sciences of The Ohio State University
* Bikash R. Pattnaik, PhD, Professor, University of Wisconsin-Madison
***
Hope in Focus is dedicated to generating awareness, raising funds for research, and providing support, education, and outreach to the LCA and rare inherited retinal disease community.
We look forward to seeing you at our LCA Family Conference!
Through global data sharing and analysis, the nonprofit RARE-X (the research arm of Global Genes) is working to accelerate treatments for rare diseases, including Leber congenital amaurosis (LCA) and other rare inherited retinal diseases (IRDs).
Hope in Focus featured Karmen Trzupek, RARE-X’s Senior Director of Scientific Programs, in its webinar episode “Let’s Chat About…RARE-X.’ Our Director of Outreach and Development Courtney Coates discussed with Karmen RARE-X’s mission and goals, and its recent merger with Global Genes. The March 7, 2023, session can be viewed here.
“Let’s Chat About…” is our free webinar series bringing together researchers, advocates, industry leaders, and people living with LCA and other rare IRDs for conversations important to the rare retinal disease community.
RARE-X and its founding
Nicole Boice founded Global Genes to support patients, families, and patient advocacy groups dedicated to rare diseases. At Global Genes, Nicole and others recognized a tremendous need to solve data collection and sharing problems for patient communities affected by rare diseases, and founded RARE-X to address those critical data issues
Rare disease patients’ data often is collected somewhere and sits privately in a silo where it is inaccessible to others. Or, the patient community actively manages the data in a format precious to a particular researcher, but unhelpful to others. Or, the data doesn’t exist, as is the case with many rare diseases.
RARE-X began addressing these issues through its data collection platform that enables rare disease communities to start gathering data in a highly structured and streamlined way that aligns with existing research philosophies.
“We work very hard at RARE-X to make sure that every single question asked of patients and families is a valid data point,” Karmen said. “Then we also share that data. With patient permission, all the data collected on the platform gets migrated to a data-analysis platform, and any qualified researcher can access that data.”
Collecting the data
“When someone first comes onto the RARE-X platform and starts entering data, it will ask them for their self-reported diagnosis. Do you have a genetic test? It asks about symptoms and the progression of those symptoms over time.
“We have people upload a copy of their genetic test results for the genetic testing data. Then we have a genetic curation team that reviews those, pulls out that data and makes sure that that data is in discrete data points. That’s useful to researchers because a researcher coming onto the platform does not want to pour through a whole bunch of PDFs and sometimes pictures from somebody’s phone of their test results, so we curate all of that data and make sure that that’s available on the research portal.”
Collaborations through RARE-X
Karmen develops programming and strategic collaborations to ensure the company makes the best use of the data that patients and families entrust to them.
In one program, she’s managing an “Open Science Data Challenge” with data from about 30 patient advocacy groups in the pediatric neurodevelopmental space, in collaboration with families of children with disorders causing seizures and global developmental delays.
“We are pulling the data and aligning it with other partner data, and then making it widely available to an extensive research community under a challenging environment, like a hackathon, to try to generate valuable insights and create research proposals for grants.”
Karmen also is looking at how RARE-X develops partnerships for additional data sources and uses of the data that circle back to benefit the patient community. Other groups on the platform include some adult-onset neurodegenerative disorders and some inherited retinal disorders.
“Usher syndrome, for example, that community is actively collecting data on the platform. And then other related inherited ocular conditions that aren’t retinal but share overlapping issues and needs, like Leber hereditary optic neuropathy, are collecting data.”
The company also plans to make digital optical coherence tomography (OCT) data available side-by-side with patient reported data.
“Those images are proprietary to the software and the hardware used. Multiple companies make OCTs, and we’re working with an artificial intelligence group that has developed ways to bring that data together and make it cross-comparative.”
RARE-X plans future LCA community data collection
“The platform has been live for about a year and a half, and we are very much building this plane as we fly it,” she said. “We’re working in the vision consortium to ensure that we’re adding the right kinds of surveys and patient-reported outcome measures to the platform that are most useful to this patient community.
“We’re continuing to talk with Hope in Focus and other groups within the LCA family of diseases. As soon as we start to have some more vision-specific surveys, we’ll begin collecting data pretty actively.”
From genetic counselor to RARE-X’s mission
Karmen’s career began as a genetic counselor in inherited retinal diseases. She worked at the Casey Eye Institute and then InformedDNA, where she developed ways to share the experience and information received by patients and families seen at a major academic research center with patients and families unable to physically get to a major center. Telemedicine and collaborations and partnerships with local retinal specialists accomplished much of that.
But she realized a much greater need overall for rare disease information sharing and for funding. Through the Usher Syndrome Coalition, Karmen met Nicole and Charlene, the RARE-X founders.
“I loved the mission and that they’re enabling even the smallest patient groups to start becoming very actively involved in clinical research,” she said.
“They are flipping that paradigm where a patient community doesn’t have to wait for a clinical trial or a natural history study for their data to be valuable. But flipping where the patient communities drive the research agenda and begin to say, ‘look, we have the data, and we have started to de-risk this disease as a disease that would be valuable to pharma to invest in.’ I love that paradigm shift. I love getting to be part of that.”
Merger benefits the rare disease community
“Coming together and joining Global Genes helps the entire journey of the patient advocate. If you think about a rare disease patient or parent, you start on your diagnostic journey searching for the diagnosis, right?
“You get that diagnosis, and maybe a patient foundation or community already exists. Maybe not, if it’s an ultra-rare disease. Those patients and families going through that have lots of needs. Those questions might include: Where do I go from here? How do I best support my child in the school system?
“The patient-advocacy journey is something that Global Genes, for a long time, has been very involved in. RARE-X has been developing this platform and developing partnerships to use this data, and now we can provide an extension of that patient advocate journey.
“So much of what both Global Genes and RARE-X have been doing is related to how we educate and support patient advocates in becoming more active participants in research and helping to drive that research agenda. I think there was a lot of overlap that was beginning to develop there. It made sense to merge.”
data from an ongoing natural history study as essentially a control arm.
“That brought up a lot of excitement and questions around patient-generated data because the patient community drove that natural history study. RARE-X and Global Genes have an opportunity to be part of this story and its evolution,” Karmen said.
“Now I am not suggesting that clinical data and traditional natural history studies will be replaced. There’s so much value in those studies, but we also know that they only ever capture a small percentage of the patient community who can travel.
“How can we make that kind of research more broadly available to a much larger population of patients and find something that’s a little bit more hybrid? That is a massive part of where I see us going in the next five years.”
One woman called doctor after doctor, only to hear they would not treat her and her two rare pediatric conditions because she turned 18 and no longer qualified for help.
Another fights for life-saving medicine to treat her rare disease that causes dangerous swelling.
While another faces $60,000 in annual medical expenses for her two teenagers living with a rare metabolic disorder requiring a special diet to stave off life-threatening symptoms.
“The medicine is there but you can’t get to it,” Candice Flewharty told the group gathered in Hartford, Connecticut, for Rare Disease Day. “Each phone call I make is a battle for my childs’ lives.”
State Sen. Cathy Osten, who has proposed legislation requiring insurance coverage for medical foods, accompanied Candice and her daughter to the gathering.
Candice Flewharty (L) with State Senator Cathy Osten
People living with rare diseases told their stories to Connecticut legislators on Rare Disease Day on March 23, about a month after a New England snowstorm canceled the event usually celebrated the last day of February.
Through the state’s newly minted Rare Disease Advisory Council, known as the RDAC, legislators of Connecticut’s General Assembly now have a collaborative and organized way to improve the lives of residents living with rare diseases.
The council’s first report of its findings and recommendations is due in November. Click here for a summary of the RDAC legislation, effective last July.
Lesley Bennett, CT-RAN State Volunteer and new RDAC member
The council will give patients, families, caregivers, health care providers, advocates, researchers, and other stakeholders the opportunity to make formal recommendations to state agencies and the legislature on ways to develop policy and health care legislation to improve the lives of those people living with rare disease and their caregivers, according to Lesley Bennett, Volunteer Ambassador for the Connecticut Rare Action Network (CT-RAN) of the National Organization for Rare Disorders (NORD).
Connecticut Gov. Ned Lamont signed legislation establishing the council after rare disease advocates worked for years to get it going.
“We did it,” Lesley said. “It took eight years, but we did it.”
Introducing six new council appointees
Rare Disease Advisory Council members will include Insurance, Public Health, and Social Services commissioners, or their designees, and 10 members appointed by the Governor and the Public Health Committee leadership. Six new members were introduced at the Rare Disease Day event; four have yet to be announced.
James Rawlings, President/CEO Sickle Cell Disease Association of America Connecticut Chapter, and new RDAC member
The six members and their council roles are:
Patient Advocate Representative: Lesley Bennett, RDAC Coalition Leader and CT-RAN Volunteer State Ambassador.
Pediatric Patient Representative: Saurabh Vaidya, Connecticut Hemophilia Society President, and father of a son with hemophilia.
Caregiver Representative: Mary Caruso, Friedreich’s Ataxia Research Alliance Founding Member, and caregiver for two adult children living with the disease.
Researcher: Joanna Gell, MD, Pediatric Oncologist and Hematologist, Connecticut Children’s, and Research Scientist, Jackson Laboratories.
Physician Treating Rare Disease Patients: Emily Germain-Lee, MD, Division Head, Pediatric Endocrinology & Diabetes; Director, Center for Rare Bone Disorders, Albright Center, and Osteogenesis Imperfecta Center.
Patient Representative: James Rawlings, R.PH, MPH, President/CEO Sickle Cell Disease Association of America, Connecticut, Michelle’s House.
“Everybody is here to help each other out.”
State Senator Saud Anwar
Connecticut Public Health Committee Co-Chair Sen. Saud Anwar told the gathering the time is here to find solutions to take care of and invest in the health of the rare disease population, saying the council must go forward with this mindset:
“Every illness is treatable. Every disease has an answer and a solution.”
The senator spoke about the realities of national and international collaborations resulting in developing regenerative medicine.
“We will put our hearts together a make sure we come out of the room with solutions. Everybody is here to help each other out.”
Connecticut Public Health Committee Co-Chair Rep. Cristin McCarthy Vahey told the group, “I look forward to working with you and being supportive in making things happen for all of you.”
State Representative Cristin McCarthy Vahey
Fewer than 40 treatments existed for rare disease 40 years ago; the number is now 600, according to Annissa Reed, NORD’s Associate Director of State Policy. She said she hopes the collaborative effort makes the dream of finding more rare disease solutions and access to medicine a reality.
Connecticut-based Hope in Focus advocated throughout the years with the Rare Action Network to help create the council, with Co-Founder and President Laura Manfre attending the Rare Disease Day event.
Hope in Focus’ Laura Manfre with Brian Rosen of Axion Pharmaceuticals
Connecticut joins 24 states in establishing a council specifically to address the complexities of living with a rare disease, caring for someone with a rare disease, gaining access to treatment, and getting better insurance coverage. To find out whether your state has an RDAC or is developing one, please go to: https://rarediseases.org/rare-disease-advisory-councils/map/.
The council is critical, as it is exponentially more difficult for the rare disease population – inherently fewer in number than the rest of Connecticut – to have a voice on the state level.
A rare disease in the United States is characterized as any disease, disorder, illness, or condition affecting fewer than 200,000 people. With more than 7,000 known rare diseases, upwards of 90 percent have no FDA-approved treatment. About 1 in 10 people – more than 30 million Americans – live with a rare disease.
Most rare diseases are genetic or have a genetic component, more than half of those affected by rare diseases are children, and all pediatric cancers are rare.
Dominic Cotton, a rare disease parent and co-leader of the RDAC Coalition, thanked the Department of Public Health and its nearly 60 years of support for newborn screening.
“Without newborn screening, my son wouldn’t be alive today.”
Kristen Angell and Jennifer Huron of the National Organization for Rare Disorders (NORD)
Every newborn in Connecticut is assessed for a range of diseases, and each year more than a hundred babies tested for any one of the diseases are on a critical, early-intervention path leading to keeping a disease in check and people living fulfilled lives.
Kristen Angell, NORD’s Associate Director of Patient Advocacy, said the gathering is important for our population living with rare diseases.
“It gives them an opportunity to speak face to face with our General Assembly and let them know the daily struggles and challenges they face, and it provides the legislators an opportunity to assist in making a possible impact.”
Access to medication a matter of life or death
Rare Disease Day is all about awareness. Here is a sampling of what legislators learned from people living with rare diseases:
Pamela Johnson and her 10-year-old son have a rare, life-threatening disease called Hereditary Angioedema (HAE), a genetic condition that can cause severe swelling in various parts of the body and affects about 1 in 50,000 people globally. She has a well-paying job and feels she should be able to afford to pay for her medications, but they cost $90,000 a month.
With no access to life-saving drugs in 2017, she underwent two surgeries for severe swelling in her throat. Without medication, two or three times monthly, she would experience attacks making it extremely difficult to breathe.
Pamela Johnson
David Leeds, who helped with the day’s introductions and has HAE, highlighted one aspect of life more difficult with a rare disease – getting treatment at a hospital. It is a place of stress, anxiety, and fear of not receiving the treatment he needs because doctors and nurses never encountered his disease.
He described two published investigations of major insurance companies denying coverage for medication to help people live. Insurance companies, rather than treating doctors, are deciding who gets to have medication and who doesn’t.
“This is every day for rare disease patients.” he said. “Insurance companies cannot be relied upon to determine what is medically necessary.”
***
Megan Freeman said no one should ever have to go through what a person living with a rare disease has to experience.
As if it were yesterday, she remembers the day she got her diagnosis, and her response:
Alissa DeJonge (L), Megan Freeman, and her friend Elizabeth Nagle
“Am I going to die? Am I going to live? Am I going to be able to live to get married and live to have kids.”
Megan lives with 2q37 deletion syndrome. She is one of about a hundred people worldwide with the ultra-rare chromosome disease that can affect many parts of the body. She is an advocate and founder of her own rare disease organization. She praised the legislators for creating the RDAC, saying, “I give you guys an A for effort!”
***
Rachel O’Grady was diagnosed as an adult with two pediatric conditions: Tethered Cord Syndrome, a neurologic disorder caused by tissue attachments limiting spinal cord movement, and Spina Bifida Occulta that causes a small gap in the spine. Any resources for Rachel in Connecticut dried up when she turned 18, no longer qualifying for help as a minor.
“They would not see me, nor would they treat me,” she said. Maxed out in medical debt, she found help in Massachusetts.
***
Alissa DeJonge’s sixth-grade son lives with a bleeding disorder called Hemophilia A. She knows people living with rare diseases make tough choices, given the huge cost of necessary medicines, and looks forward to having the new council work to protect patient care, help caregivers, and allow parents to take time off from work.
***
Kelly Considine, with her mother, Susan, and service dog, Gunner, in the atrium of the Legislative Office Building
Kelly Considine, accompanied by her mother, Susan, came to raise awareness about and promote research for a rare chronic pain disorder she lives with called Complex Regulatory Pain Syndrome.
Kelly characterized the disease as the most painful condition known to modern medicine. She receives some relief from an implanted therapeutic device and receives help and love, from her mother and her service dog, a golden retriever named Gunner.
***
Amy LaChance, the mother and caregiver of a child with Syngap1, a genetic mutation affecting 1,200 people worldwide, said people need access to genetic testing to support research and trials for a treatment to fix this genetic typo.
It makes a difference when people with rare disease tell lawmakers their stories about needing access to tests and medicine, saying, “The squeaky wheel really does get the grease.”
Biotechnology growth important to state economy
Paul Pescatello, JD, PhD, is Senior Counsel and Executive Director of the Connecticut Bioscience Growth Council, a committee of the Connecticut Business and Industry Association’s biotech and biopharma members.
Amy LaChance
The bioscience council fosters collaboration with the life-science institutions of biotech and biopharma, and with the state to help grow this sector of Connecticut’s economy. Developing a new medicine costs about $2.7 billion and takes 12 to 15 years, he said.
“Essentially, it costs what it costs, no matter the size of the patient population,” he said. “That’s why it’s important to underscore how rare disease new medicine research typically leads to many insights and advances in drug development for larger patient populations.”
Keep telling your rare disease stories
Representative Vincent Candelora, house minority leader and rare disease champion, urged people to tell their stories to make people aware so lawmakers can help fashion policy to help them.
“If we don’t hear from you, it’s harder for us to do our job. It’s the true stories that tell us everything that’s going on.”
His advice echoed the encouragement we at Hope in Focus give to our LCA and IRD community – tell your stories to feel less isolated in your journey of living with a rare inherited retinal disease and to help advance research into treatments to improve vision or to halt vision loss.
The council will give patients, families, caregivers, health care providers, advocates, researchers, and other stakeholders the opportunity to make formal recommendations to state agencies and the legislature on developing policy and health care legislation to improve the lives people living with rare disease and their caregivers.
The council will deliver its first report of findings and recommendations in November. Please click here for a summary of the RDAC legislation that Gov. Ned Lamont signed into law. Connecticut joins 24 states having a Rare Disease Advisory Council. To see whether your state is working to create such a group, please check here.
RDAC members will include Insurance, Public Health, and Social Services commissioners, or their designees, and 10 members appointed by the governor and the Public Health Committee leadership. Of those 10 appointments, here are the six announced at Connecticut’s March 23, 2023, celebration of Rare Disease Day:
Patient Advocate Representative: Lesley Bennett, RDAC Coalition Leader, and CT-Rare Action Network Volunteer State Ambassador, National Organization for Rare Disorders.
Pediatric Patient Representative: Saurabh Vaidya, Connecticut Hemophilia Society President, and father of a son with Hemophilia.
Caregiver Representative: Mary Caruso, Friedreich’s Ataxia Research Alliance Founding Member, and caregiver for two adult children living with that rare disease.
Researcher: Joanna Gell, MD, Pediatric Oncologist and Hematologist, Connecticut Children’s Hospital, and Research Scientist, Jackson Laboratories.
Physician Treating Rare Disease Patients: Emily Germain-Lee, MD, Division Head, Pediatric Endocrinology and Diabetes, and Director, Center for Rare Bone Disorders, Albright Center, and Osteogenesis Imperfecta.
Patient Representative: James Rawlings, R.PH, MPH, President/CEO Sickle Cell Disease Association of America, Connecticut, Michelle’s House.
We’ll let you know when the rest of the appointments are official. They include representation of hospitals, the biopharmaceutical industry, and people living with a rare disease.
Advocates for people living with rare diseases are collaborating with Connecticut Gov. Ned Lamont’s office and leaders of the Connecticut General Assembly’s Public Health Committee to build the state’s new Rare Disease Advisory Council (RDAC) that requires appointees, budgets, and bylaws be in place this summer.
Assistant Director of Advocacy for the National Organization for Rare Disorders (NORD) Kristin Angell joined Co-Ambassadors Katie Gillick and Lesley Bennett of NORD’s Connecticut Rare Action Network (CT-RAN) in hosting a Zoom conference with more than 30 people, including state legislators, patient advocates, doctors, researchers, industry leaders, health care providers, caregivers, and people living with rare disease.
The meeting included two representatives from Connecticut-based Hope in Focus and discussions about the range of needs to be addressed by the new council and the planning of next month’s celebration of Rare Disease Day on Feb. 28.
“We are working on it, and we will get it done,” Bennett said.
A rare disease is defined as one affecting fewer than 200,000 people nationwide. More than 7,000 known rare diseases affect an estimated one in 10 people in the United States, translating to about 30 million people or 10 percent of the country’s population. Globally, 300 million people live with rare diseases.
With the establishment of a permanent Connecticut RDAC, 13 members will be appointed to advise and make recommendations to the Department of Public Health, the Department of Social Services, and other state agencies about the needs of people living in Connecticut with a rare disease and their caregivers. Advisory councils may differ from state to state. Please click here to check whether your state has an RDAC or is working to establish one.
The cause of many rare diseases is unknown, but about 80 percent are genetic, such as LCA and other IRDs, and about half of all rare diseases affect children.
Getting state agencies to understand the rare disease population is key to the RDAC. Even something as simple as putting links to national rare disease resources on state government departments’ websites would be a big step.
More than 40 people submitted applications to become part of Connecticut’s council, and six have been appointed so far. The names of the new members will be announced when all 13 have been appointed.
The group will include insurance, public health, and social services commissioners, or their designees, and 10 members appointed by the Governor and the Public Health Committee leadership. Those 10 members will be:
a representative of an association of hospitals or a hospital administrator, and a physician with expertise in medical genetics
a representative of a patient advocacy group in the state representing all rare diseases, and a family member or caregiver of a pediatric patient living with a rare disease
a representative of the biopharmaceutical industry involved in rare disease research and therapy development, and an adult living with a rare disease
a member of the scientific community engaged in rare disease research, and a caregiver of a child or adult living with a rare disease
a physician who treats people living with a rare disease, and a representative, family member, or caregiver of a person living with a rare disease
Planning for Rare Disease Day
Following the midterm elections and changes in some legislative seats at Connecticut’s General Assembly, educating lawmakers is key to finding solutions for people living with rare disease to have the necessary access, resources, and educational tools to enjoy their best quality of life.
One person attending the meeting talked about the need for more doctors and patient advocates in Connecticut because people living with rare disease often must travel to another state for medical care. She also mentioned the potential of patients being charged for sending simple questions to doctors through computer health care portals, and whether lawmakers attending upcoming Rare Disease Day events could help mitigate or eliminate those costs.
Three people who received diagnoses of Leber congenital amaurosis (LCA) in recent years – but lived most of their lives thinking they had retinitis pigmentosa (RP) – gave us the opportunity to hear their stories at a special session of the VISIONS 2022 conference this summer.
An RP diagnosis is currently given to patients with photoreceptor degeneration but good central vision within the first decade of life; an LCA diagnosis is given to patients who are born blind or who lose vision within a few months after birth.
Ultimately, though, that difficulty did not hold back these individuals from creating happy and productive lives because they did not allow their blindness to define them.
Linda Joy Wirth, Russ Davis, and Emily Townsend Cobb
Linda Joy Wirth
Blind since birth, Linda Joy Wirth, now 75 and living in Lakewood, Colo., was diagnosed with RP in the 1960s. Because she was told from an early age that nothing could be done for her blindness, she stopped thinking about her diagnosis and focused on her education, marriage, and children.
Then she thought: “You can never cure something if you can’t diagnose it.”
In the 1990s, she sought out a highly recommended doctor who treated her with a strong dose of cruel words.
“ ‘You’re blind. What do you want me to tell you?’ ” she recalled the doctor saying. “I was so distraught by the visit; I did not go back to the doctor for years and years and years.”
About 10 years ago, though, she went to a Foundation conference, where she received a referral to a Denver retinal specialist by the name of Dr. Alan Kimura, who changed her life.
“When I finally saw Dr. Kimura, I said I don’t even know why I’m here. I walked out two hours later, and I was walking on cloud nine. It’s so important to have the right retinal doctor.”
Dr. Kimura told her she had LCA. Genetic testing gave her a confirmed genetic diagnosis of LCA10, caused by mutations in the CEP290 gene.
Linda encourages people to get genetically tested to pinpoint the diagnosis, and then, like her, to be aware of the possibility of participating in a clinical trial to advance research into treatments and cures.
People told Linda along the way that because of her blindness, she shouldn’t marry or have children or follow her passion for acting. And, of course, she heard those stinging words from that earlier doctor: “ ‘You’re blind. There’s nothing we can do.’ ”
Linda is a retired clinical social worker in geriatric long-term care, an actor in a theater company, a Foundation volunteer, a mother of four, a grandmother of seven, a motivational speaker, and the author of “Just Because I Am Blind Does Not Mean I Can’t See!”
Russ Davis
Russ Davis, 60, of Jacksonville, Fla., still gets confusing information about the cause of his rare inherited retinal disease.
“One minute I hear it’s probably LCA, or no, that it’s classic RP. I got that at the conference.”
Some retinal experts do consider LCA to be a severe form of RP.
In 2019, Russ received a genetic diagnosis of LCA2, caused by a mutation in the RPE65gene. Dr. Stephen Russell at the University of Iowa told Russ he could have RP or LCA.
“ ‘It could be either one,’ ” he recalled the doctor saying. “ ‘But at your age with so few retinal cells, we’re not going to know.’ ”
Russ said he’s a little frustrated with the lack of a certain label for the disease, but it’s not going to change his life.
“The blindness part, that’s fine. I am who I am. It doesn’t control my life. But I’d like to have answers.”
These days, Russ is going with LCA.
His vision loss occurred at birth. Growing up he could read a book with a bright light, ride a bike, and he enjoyed long-distance running.
“I could see most everything, except at night when everything disappeared. When the sun went down, I was toast,” he said. “There was nothing there. There was darkness and light bulbs.”
His vision worsened early in his career in his mid-20s working for the State of Florida, looking for people who owed child support and wanted to stay missing. The job was fun for 30 years but about 10 years ago, with his vision getting worse and work getting harder, he retired.
Russ and his partner, Denise Valkema, were like a comedy team at the LCA session, riffing off each other’s words and making the Mix & Mingle group erupt in rounds of laughter.
Denise, who lives with optic nerve hypoplasia, which is an underdevelopment of the optic nerve, met Russ through the National Federation of the Blind. Denise served as NFB’s Florida Affiliate President for seven years.
They both serve on the organization’s board. Their priorities include working with Congress on myriad pieces of legislation to bring about better accessibility to medical care, computer technology, banking, voting, and more.
“The blind community is still not able to participate fully in society because we don’t have access to all the aspects of living that the sighted community has,” Russ said. “Try finding a talking blood pressure cuff.”
Russ advocates for people with diminishing eyesight, reassuring them that that life will go on.
“It’s all about your attitude. I try to tell them, no, that it’s not going to be easy. Lots of times, it’s going to be difficult. There are a lot of things to adjust to. You simply find new ways to do the things you were doing before.
“You can’t let your loss of eyesight define who you are or control you. You have to own it and not let it control you.”
And he lives his words.
“There’s so many times in life, you have the option to laugh or to cry, and I’m going to pick laughter. It would be very easy to pick the other one.”
Emily Townsend Cobb
With a 2½-year-old daughter, another one on the way, and a pediatric physical therapy career, we were lucky we had the chance to talk with Emily Townsend Cobb at the LCA session.
Doctors diagnosed Emily with RP at age 3. Now, 33, she received a confirmed genetic diagnosis in 2019 of LCA13, caused by a mutation in the RDH12 gene.
Emily is in that age group of people misdiagnosed for years before the advent of genetic testing.
“Thirty and over, that’s how it went,” she said.
Getting the confirmed diagnosis didn’t really change her life, especially because LCA13 research is in preliminary stages.
“Now I sit and wait for my number to be called,” Emily said, referring to the possibility of a treatment or cure for her form of LCA. “While we wait for all these things to happen, we have to live life.”
Emily’s husband, and her mom and dad accompanied her at the conference. Her father, Clay, introduced himself, saying, “Oh, I’m the proud father of two girls with RDH12 and I’d do anything to help them.”
As he broke into tears, his wife, Sue, leaned into him, saying, “He’s a crier.”
Without having to say much more, it became clear why Emily credits her family for their loving support and positive approach toward life.
She said she receives 150 percent support from her family.
“That support is so important for anybody, but especially if you have a disability.”
Doctors also diagnosed her 31-year-old sister, Ashley, with RP, and she later received a genetic diagnosis of LCA13 (RDH12).
Emily remembers reading newsprint as a pre-teen and playing soccer, but her vision profoundly worsened as a teen-ager, a tough time for any kid, but especially for her as she was losing her sight.
About the same time, she learned she had LCA but didn’t undergo genetic testing because genetic data was still being mapped out.
We talked with Emily after the session when she returned to her home in Jacksonville, Fla., where early on, she said, her mom set her up with a therapist who had RP, which helped build her confidence as a teen-ager.
She put off using a cane until college and in her sophomore year got her guide dog, a black lab named Fergie, now retired to pet life after 11 years of service.
“She’s currently snuggled up to me on the couch while I fold laundry,” Emily said as her little girl, Elora, napped.
Her second daughter is due in October. And, oh, did we mention she runs half-marathons and is a triathlete?
Emily takes part in triathlons with her husband, Ryan; they are tethered during the running and swimming races and ride a tandem bike for the cycling portion.
“If you ever want to test the strength of a marriage, blindfold one of you and tether to the other,” Emily quipped.
She and Ryan talked about the chances of their children being born with LCA. She recalled her husband saying, “ ‘Emily, if they’re going to end up as awesome as you, I want to.’ ”
They knew their children could be born with LCA, but they also knew the rarity of the disease. Emily said the chances of having a child with LCA are about one in 400.
“I’ll take those odds,” she said. “I’m pretty happy that I’m here.”
Connecticut Gov. Ned Lamont signed into law years-in-the-making legislation establishing a permanent Rare Disease Advisory Council (RDAC), effective July 1, 2022.
“This RDAC will give patients, families, caregivers, health care providers, advocates, researchers, and other stakeholders an opportunity to make formal recommendations to state agencies and our legislature on ways to develop public policy and health care legislation that will improve the lives of those impacted by a rare disease in Connecticut,” Bennett said.
Connecticut-based Hope in Focus advocated over the years with the Rare Action Network for the establishment of the council. The state created a temporary rare disease task force in 2017 that never got off the ground.
This year, in a short legislative session – with lots of input from advocacy organizations, patients, caregivers, doctors, researchers, and advisory council members from other states – Connecticut’s governor signed into law House Bill 5500, now Section 48 of Public Act 22-58, establishing a permanent RDAC.
Laura Manfre, Hope in Focus Co-Founder and Board Chair, commended the action, saying it will bring much-needed awareness to rare diseases.
“Helping people living with rare disease all begins with awareness and Connecticut’s Rare Disease Advisory Council will help with that, and more, for the 7,000 known rare diseases affecting 25-30 million people, about 10 percent of the country’s population,” she said.
“Rare disease by definition needs all the attention it can get and establishing a Rare Disease Advisory Council in Connecticut can only bring more awareness to those living with rare conditions and bring needed support to help improve people’s lives.
Hope in Focus representatives testified in the last several years at the capitol in Hartford in support of establishing a permanent council by educating legislators about our organization and LCA to demonstrate in human terms the necessity for such a council.
We told them that LCA is characterized by severe vision loss at birth, and that 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 time, and, as the retina deteriorates, eventually blindness.
We let them know that LCA patients living with one form of the rare inherited retinal disease and treated with the gene therapy LUXTURNA® experienced dramatic changes in their lives with improved or restored vision. Five, 6, 7-year-old children treated with the breakthrough drug view life in a new light in big and little ways, and they now can see rainbows arcing in the sky and stars shining at night.
The legislators also needed to know that the optimal window for reversing vision loss is during the early phase of the disease. Current clinical trials and preclinical research give hope to those with one of the 26 other gene mutations identified to cause LCA, as those scientific studies are critical to advancing treatments for LCA and other IRDs.
After the U.S. Food and Drug Administration approved LUXTURNA® in 2017, several states attempted to pass laws denying access to treatment to individuals, saying a certain degree of blindness must be met before they could access treatment. Such restrictions are unacceptable and go against federal health recommendations, which state the earlier the intervention, the better the expected outcome.
Hope in Focus made the point that no one who qualifies according to FDA guidelines should ever have to wait to be “blind enough” to receive access to treatment. We, along with other organizations, were quick to call these states out and urged the Connecticut General Assembly to support patient access to FDA-approved treatments.
Rare Disease Advisory Council Specifics
The new law establishes a 13-member Connecticut RDAC to advise and make recommendations to the Department of Public Health and other state agencies about the needs of people in the state living with a rare disease and their caregivers. Advisory councils may differ from state to state in some ways. Click here to check whether your state has an RDAC or is working to establish one.
Council members will include insurance, public health, and social services commissioners, or their designees, and 10 members appointed by the governor and the Public Health Committee leadership.
The 10 members are:
a representative of an association of hospitals or a hospital administrator, and a physician with expertise in medical genetics.
a representative of a patient advocacy group in the state representing all rare diseases, and a family member or caregiver of a pediatric patient living with a rare disease.
a representative of the biopharmaceutical industry involved in rare disease research and therapy development, and an adult living with a rare disease.
a member of the scientific community engaged in rare disease research, and a caregiver of a child or adult living with a rare disease.
a physician who treats people living with a rare disease, and a representative, family member, or caregiver of a person living with a rare disease.
Initial appointments are required to be made by Oct. 31, 2022. Under the law, five of the first-appointed members serve two-year terms; five members serve three-year terms, and all members serve two-year terms thereafter. Members are not compensated for their services but may be reimbursed for necessary expenses.
The advisory council is required to meet in-person or remotely at least six times between Nov. 30, 2022, and Oct. 31, 2023, and quarterly thereafter. The council also must provide opportunities for the public to make comments, hear council updates, and provide input on council activities.
The council also can hold public hearings to solicit comments from the public to assist with a study or a survey about people living with rare disease, their caregivers, and their health care providers.
The RDAC can consult with experts to develop policy recommendations and conduct research to make recommendations covering treatment, care, safeguards against discrimination, health insurance coverage, drug formularies, and more.
The law also requires the council, starting by Nov. 30, 2023, to annually report to the governor and the Public Health Committee on its findings and recommendations, including council activities, research findings, and legislative recommendations; and potential funding sources for its activities, including grants, donations, sponsorships, or in-kind donations.
The first meeting of the council will be by Nov. 30, 2022.
