In my memoir Planet of the Blind I wrote that “on the planet of the blind no one needs to be cured”—an assertion which stands as a serious affirmation of the civil rights of people who are blind and visually impaired. Indeed, in the field of Disability Studies one of the most important contemporary ideas has been to assert that the medical model of disability is often demeaning to people with physical differences. The medical model holds the implicit argument that those who cannot be cured are nothing more than failed patients—an essentialist view of medicine which has lead many physicians to pursue physical perfection for their patients and to eschew the needs of those who can’t be repaired. The field of Ophthalmology has been particularly attached to the medical model. Many blind and visually impaired people can relate stories of encounters with eye doctors that reveal their physicians’ magnified neglect of patients who by their very condition represent the failure of medicine. It is astonishing to hear how ubiquitous the phrase “I’m sorry, there’s nothing more we can do for you” really is when blinding eye diseases are being discussed. “I’m sorry, there’s nothing more we can do for you” is a multiple debilitation for it’s a phrase that says you are not to come back to the doctor’s office; you are not valuable in fully human terms; that the only valuable people are the ones who will see 20/20 after their measly cataracts are removed with the mini handi-vac they use in the back room.
The phrase also is designed to disguise the fact that the eye doctor doesn’t know anything about blindness services and rehabilitation strategies. This is ophthalmology as the ultimate silo. And if you’ve traveled as much among blindness activists and their friends as I have over the past 15 years you will surely know that I’m not exaggerating when I say that this “go away’ rhetorical impulse is both wide spread and enervating. You have just been told that you’re no longer part of the world and worse, you’ve been told that the world is only for perfect people. “I’m sorry, there’s nothing more we can do for you” means: “You’re blindness scares the living daylights out of me.” We could of course speculate all day about why ophthalmology has developed this provincial and narrow view of blindness, charting our discussion with historical footage from the annals of medical history. But for the sake of argument let’s say that the etiology of blindness has not been well understood by medicine until comparatively recent times. The advent of what is now called “post-molecular medicine” is changing all aspects of medicine and it is certainly transforming the field of ophthalmology. Let’s consider the work that’s being done at the University of Iowa’s Institute for Vision Research. The IVR is dedicated to research and treatment of macular degeneration, glaucoma, retinitis pigmentosa, and related degenerative diseases of the eye. A major focus of the Center is the development of gene-directed therapy for eye diseases.
One of the diseases the IVR is researching and which has yielded the most intriguing results is LCA or Leber’s Congenital Amourosis. This research program is called “Project 3000”. Here is the description from the website:
LCA is an inherited form of blindness that is usually apparent shortly after birth. In most cases, affected children are otherwise completely healthy but a subset of children do have other problems such as learning disabilities, autism, seizures, or kidney disease. At least fourteen different genes are currently known to cause the disease and as a group these genes are responsible for about 70% of all cases. There have been some very exciting developments regarding treatment for LCA. Years of research led to treatments to restore vision in animals with similar disorders and last year (2009) the first human clinical trialsε met with similar success. It is expected that more treatments will soon be ready for testing in human beings and for most of these treatment trials knowledge of the disease-causing gene will be important.
Here is an article from the Wall Street Journal describing the collaborative work on LCA gene therapy that’s being done by the University of Pennsylvania and the U of Iowa:
Here is a video link showing the dramatic results of gene treatment in a boy born blind with LCA—a before and after video demonstrating his new found ability to see objects and to navigate an obstacle course:
The discovery of the genes that cause LCA and the availability of useful tests for disease-causing alterations in these genes are both so new that most affected individuals are currently unaware that such testing exists. Project 3000 seeks to identify every person in the United States affected with LCA and offer them state of the art genetic testing on a nonprofit basis through the John and Marcia Carver Nonprofit Genetic Testing Laboratory at the University of Iowa. For affected families who lack health insurance, philanthropic donations will be used to reduce the cost of the testing.
Project 3000 has five major partners
A project of this magnitude will require many partners. The five groups that have joined forces thus far are:
Project 3000 has five major goals
- Provide hope.
Many individuals affected with Leber’s Congenital Amaurosis have been told directly or indirectly that "there is nothing that can be done to improve/restore their vision." Project 3000 intends to reverse this message and make it clear that there is much that the 3000 individuals with LCA can do as a group to help combat this disease.
- Provide accurate information.
By collecting some basic clinical information from thousands of people affected with LCA, doctors will be able to learn how each genetic subtype of LCA behaves over time and will be able to use this information to give newly diagnosed individuals and their families more accurate information about what to expect.
- Find the remaining genes.
The genes responsible for about one third of LCA cases remain to be discovered. Scientists believe that by gathering samples from the hundreds of individuals affected by LCA whose genes have not yet been discovered, that they will be much more likely to find all of the remaining ones.
- Find cures.
Trials of new treatments for LCA will require access to individuals affected with specific genetic subtypes of LCA. Even the most common genetic types of LCA occur in less than 300 people in the United States. Project 3000 seeks to identify as many individuals as possible with each genetic subtype so that clinical trials will never be slowed by a lack of affected individuals.
- Make a genetic test for LCA available to all who might benefit from one.
Many insurance companies are currently unfamiliar with the value of genetic testing for LCA. By encouraging thousands of individuals with LCA to seek payment for their nonprofit genetic tests, Project 3000 intends to demonstrate the value of such testing to doctors and insurance companies across the country. As a result, genetic testing will become part of the "standard of care" for LCA in the United States.
As an advocate for blind folks and as a scholar of Disability Studies I would like to return to the opening of my remarks by saying that no one should feel the need to be cured as a template or marker of human value. Indeed the onus (such as it may be) is on medicine to understand human individuality and the gradients of physical differences. I believe firmly that this revolution is underway. As my colleague Dr. Edwin Stone says: “blind people need to go to the eye doctor for general ophthalmological care—blind eyes are still important eyes”.
One day Ed said to me:
“The evangelical disabled person might adopt the attitude, ‘Why do I need to be cured? I’m fine as I am,’ while the evangelical curing person might adopt the posture, ‘Why spend any resources on figuring out ways to accommodate visually disabled people? We ought to spend time trying to cure them,’” “It’s grossly inappropriate that these two concepts are so separate. There’s no reason we can’t pursue both—aspire to reduce blindness through surgical or medical treatments, while simultaneously being sensitive to the needs of people who are visually impaired and working to help them in every way possible.”