I learned recently, many weeks after its early June announcement, that the Institute for Clinical Effectiveness Review (ICER) based in Boston will develop a report assessing the cost effectiveness of a new cure for blindness, a gene therapy for vision loss associated with a form of retinal disease. By the time I learned about it, the comment period had closed to allow stakeholders to share key information relevant to the first phase of development of the evidence report. While ICER said it would contact key patient groups and clinical experts to gain further insights on the patient perspective and clinical context of this new treatment option, I had never heard about it when I could have had a voice in the initial phase of the study. It’s not clear how hard they worked to get the patient perspective, and I certainly have a perspective to share
Then, one morning in January of 1982, I woke up to my first blizzard in Washington. A daughter of the true North, born and raised in Canada, I had no idea that Washington would shut down at almost the first snowflake. And to compound the situation, I realized I had a raging (don’t you only get these things when you are a kid?) case of pink-eye.
Fortunately, there was a doctor in my building who fitted me in, as traffic slowed to a crawl and businesses and the federal government began to shut down for the duration of the storm. The doctor examined me, gave me a prescription for the pink-eye and then said the words that changed my life forever. He told me that I had a retinal degenerative disease, separate from the itchy annoying pink-eye, and that I would likely go blind, perhaps as soon as the next six months. But then he told me not to worry, because most people like me get hit by a bus before we go completely blind. Well, almost 40 years have passed, and so far, I have been able to stay out of the way of that oncoming bus!
But being a member of the community of Americans with disabilities did change my life, presenting both its challenges and also great enrichment. Over time, I have lost my sight, and now navigate only with the assistance of my white cane, communicate with the use of assistive technology. I cannot read, drive, watch TV, engage in the modern social intercourse of Instagram and the other computer innovations that rely on visual perception. I find myself often wondering about such basics as whether my shoes match, how to turn on my oven to make dinner, and my social universe continues to shrink as I struggle to keep up to date with all the latest news and trends. And more than anything, I desperately miss being able to see the faces of my three beautiful children.
But the enrichment is there, too. My life as a lawyer transitioned to more than three decades of work as a disability rights advocate, I have raised three incredible children, and served my country as part of the Obama administration. Truthfully, while I wish I could see, my life has been so blessed by the incredible people I have met within the disability community, and those outside the community who are dedicated to ensuring inclusion and the respect for dignity for every American. I have a great life.
But I still wish I could see.
So I was amazed to learn that one of the organizations I serve as a national Board member, the Foundation Fighting Blindness, is making great headway in its search for treatments and cures for retinal degenerative disease. In an almost unbelievable development, the Foundation has sponsored research that, with non-surgical treatment by means of gene therapy, may restore and retain sight for patients who are affected by a form of retinal degeneration called LCA. This particular condition affects children very early in life, so that the gene therapy, successfully administered, may have the effect of enabling blind babies and children to see! Instead of facing their entire lives with the challenges of blindness, this treatment may enable a life filled with vision.
The treatment, if approved by the FDA, as expected within the next six months, will be the first form of gene therapy for an eye condition.
So how does that make me feel? There is only one response-and that is to say, how incredible is this? Making it possible in our lifetimes, for babies born blind to see?
Bravo to the Foundation Fighting Blindness, its dedicated scientists, physicians and staff, its hundreds of thousands of members and supporters! Congratulations to these children, already born or in future generations, yet to be part of this world. I count on them to continue the work of advocacy, science, enrichment and inclusion for all and feel so grateful to witness this amazing futuristic discovery!
To groups like ICER, I urge that their work does not serve as a barrier to access to this treatment. In my three decades as a disability advocate, I have often witnessed and experienced the discrimination that may result from assumptions made as to access, capability or benefits of application. I have often fought against the stigma that is attached to disability, or those who are quick to judge that a disabled person’s life is not worthy of attention, inclusion or respect. I find it impossible to believe that the value of this treatment, to restore and retain vision for children who are just beginning their life’s journey, can be discounted or minimized. I encourage ICER, and the broader community of health care insurers, providers and physicians to do everything in their power to ensure that this treatment takes hold, is made available and at reasonable cost that will do so much to benefit young lives. I am hopeful that the Foundation Fighting Blindness, together with patient advocates, physicians, and interested families, will now work together to ensure that the tremendous potential of this treatment comes to fruition.
Janni Lehrer-Stein is a disability rights advocate, appointed by President Obama to serve two terms on the National council on Disability, and currently serves as a member of the Board of Directors of the Foundation Fighting Blindness, Disability Rights Advocates and as a member of the National Academies on Science, Engineering and Medicine on its Forum on Aging and Disability.