Hope in Focus Rare Disease Day Statement to Connecticut’s Legislature
Representatives from Hope in Focus joined Connecticut’s Rare Disease Day celebration at the Capitol in Hartford on March 23, 2023. A New England snowstorm postponed the event usually celebrated the last day of February.
We wanted lawmakers to know more about people living with Leber congenital amaurosis (LCA) and other rare inherited retinal diseases (IRDs), as Connecticut signed into law an act creating a Rare Disease Advisory Council (RDAC), a group that 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 legislation to improve the lives of people living with rare disease and their caregivers.
Here is our Rare Disease Day statement about living with rare retinal diseases:
Good morning and thank you, Connecticut General Assembly members, for joining us today.
For nine years, Hope in Focus, headquartered in Ledyard, Connecticut, has been dedicated to generating awareness, supporting affected families, and raising funds to advance research for diagnosis, treatments, and cures for blindness caused by Leber congenital amaurosis (LCA) and other rare inherited retinal diseases (IRDs), such as Retinitis Pigmentosa.
LCA is characterized by severe vision loss at birth. While some children are born with little or no vision, others may have significant vision loss in the first few years of life, stable vision for some time, and complete vision loss as the retina deteriorates into total blindness.
The effects on the daily lives of people living with LCA include:
- The stress of constantly adapting to degrees of vision loss
- Physical and psychological fatigue
- Mental health issues, including depression, anxiety, and self-harm
- Loss of independence
- Struggles to gain meaningful employment
More than 27 genes are associated with LCA, and a mutation in just one of these genes can result in blindness. LCA is estimated to occur in about 1 in 33,000 people. This represents about 110 people having this rare inherited retinal disease in Connecticut.
After decades of research and dedicated investment in studies, scientists created a ground-breaking genetic therapy to help restore vision in patients with RPE65, one of the genetic mutations causing LCA. In 2017, the U.S. Food and Drug Administration approved a treatment – developed by Spark Therapeutics called LUXTURNA® – which also is the first genetic therapy ever in the United States to treat ANY rare inherited disease.
Genetic diagnosis alone remains a significant challenge for many.
Individuals living with this disease need to confirm their genetic diagnosis to better understand and prepare for the progression of the disease, including in some cases, life-threatening conditions such as kidney failure, in addition to vision loss.
A confirmed genetic diagnosis also allows individuals to support advancing research into treatments and to be available for approved treatments. To date, Hope in Focus has contributed more than $150,000 for this vital resource of genetic testing and counseling for patients.
Hope in Focus also has raised and donated more than $410,000 to fund genetic retinal research. Many gene-based clinical trials targeting several different genes are underway, as well as retinal cell therapy trials. Additionally, more genes are under investigation in the preclinical pipeline.
LCA patients treated with LUXTURNA® experienced dramatic changes in their lives with greatly improved or restored vision. Five-, 6-, 7-year-old children treated with LUXTURNA® view life in a new light in big and little ways. They now can see rainbows arcing in the sky and stars shining at night.
The optimal window for reversing vision loss is in early phases of the disease. Current clinical trials and pre-clinical research give HOPE to those with one of the 26 other gene mutations identified to cause LCA. Research is critical to advancing treatments for LCA and other rare inherited retinal diseases.
When LUXTURNA® was first introduced, several states tried to pass laws denying access to treatment to individuals, stating that a certain degree of blindness must be met before getting treatment. Such restrictions are unacceptable and go against federal health recommendations, which say the earlier the intervention, the better the expected outcome.
No one who qualifies according to FDA guidelines should ever have to wait to be “blind enough” to receive access to treatment. Hope in Focus, along with other organizations, quickly called these states out. We urge the Connecticut General Assembly to support patient access to FDA-approved treatments.
When treatments are available and accessible, quality of life improves for the recipient and results in positive economic impacts for them and for the state. The reality is that those living with vision loss often require additional support from government safety nets, as they are more likely to experience difficulty finding work, and they experience issues from loss of independence to physical accidents and mental health issues.
Hope in Focus strives to keep hope at the center of our messaging so that together we can make vision possible for those living with LCA. We are thankful you have taken the time to listen and start to understand the complexities around rare disease and access to treatments and services.
We are grateful Connecticut has taken the critical step of establishing a Rare Disease Advisory Council to help better serve our rare disease population.
Hope in Focus Co-founder and Board President