Boston Chapter Welcome Letter

It is often easier to explain why I support the Foundation Fighting Blindness by first telling a story.  I was first diagnosed with hearing loss when I was about four or five years old.  I started wearing hearing aids (the kinds that fit into a pocket with a wire going to your ears).  Because I was somewhat delayed in my development due to the hearing loss, my audiologists strongly recommended to my parents that I attend a special needs school during my first grade year in a community about an hour away.  They reluctantly agreed and found a foster home where I could stay during the week and come home weekends.  Needless to say, this was not agreeable to me, and the gut-wrenching decision for the family was not without its bumps.  But, in retrospect for them and me, the training gave me the tools to move forward and indeed flourish.  As I grew up in Burlington, VT, I did well both scholastically and athletically.  We did notice that I didn't have very good night vision but thought nothing of it.  When I was 25 and living in Cali, Colombia, friends pointed out that I bumped into a lot of things and then spontaneously did the old "when do you see my hands" scientific test, spreading arms far apart and then bringing them closer and closer together.  When I didn't see my friends' hands until they were quite close together, that told us all that I didn't have much peripheral vision.  When I returned to the US in 1977, I saw a doctor, who tentatively diagnosed me with retinitis pigmentosa (RP) and pronounced that I should not hope to be a truck driver as I would be blind in 10 years and there was nothing he or anyone could do about it.  Ok, bad news, stunning actually, and definitely sending me into a temporary tailspin.  As anyone reading this with RP or other progressive vision loss knows all too well, the diagnosis was stunning, shocking, totally out of the blue, and devastating.  My mother immediately arranged a second opinion in Boston, which ended up being  somewhat reassuring in that I learned the proression would likely be slow and that I should have at least some vision for many, though unknown number of years.  And indeed, the vision loss has been gradual and my adjustments kept pace.  I was fortunate to live in the Boston area, with its extensive public transportation system, medical services, and other support services for those visually impaired.  I worked in an office setting that did not require that I drive, and I could see well with my central vision, which enabled me to take up the hobby of birdwatching, which in turn led me to many travels around the world.

What changed for me was the worsening of my central vision starting about four years ago (I am now 59 years old).  Let me be clear: I am an extremely fortunate person and I choose to do what I can, not to worry about what I can’t do.  The worsening of central vision led me to say, ok, time to do something more here.  And one of the “something more” items was to get involved in trying to help fund research that would treat and cure RP and other retinal degenerative diseases (RDDs).

RP is an orphan, or rare, disease, affecting only about 100,000 Americans, and Usher syndrome, which I have, is even more rare.  As such, there's not a lot of incentive in the commercial arena to do the research required to treat or cure RP or other RDDs, such as Stargardt disease (usually diagnosed in children) or age-related macular degeneration, which affects about 15 percent of Americans 75 years or older; not a good time in life to lose your vision.  Everywhere I turned, I seemed to hit FFB.  Founded in 1971 by Gordon Gund, himself blind from RP, FFB's mission has been to drive the research on RDDs, indeed putting this research on the map with their pioneering work.  Today, they are the world's largest non-profit funder of RDD research.  FFB-funded clinical trials in gene therapy RESTORED vision in children and young adults nearly completely blind from a severe form of RP called Leber's congenital amaurosis, or LCA.  The American Association for the Advancement of Science named gene therapy research advances as among the top 10 scientific advances in 2009.  Not only did FFB fund these efforts, but they funded many pre-clinical trial studies that made the research possible.

FFB is innovative, take risks if they feel the proposed research holds promise in treating or curing RDDs (thereby advancing the research far enough for commercial firms to invest millions with less risk), and they are relentless in their mission.  Their universe is not one disease, but many diseases that involve at least 200 genetic mutations (and counting).  And they believe that discoveries made in one trial or with one disease often hold promise for other RDDs, as well as for other neurological diseases (given that the retina is part of the nervous system).

We all want to cure diseases that affect the quality of our lives or indeed threaten our lives.  There are so many causes out there focused on this or that health condition.  I would only say that I strongly believe that research on blinding diseases does not get the attention that it deserves, and this is very perplexing to me.  Ten million Americans are affected by an RDD, a staggering number that is expected to increase by 50 percent by 2020.  When I researched leading non-profit organizations whose primary mission was to fund research on their target health issue (as FFB's is for RDDs), FFB was virtually at the bottom in terms of dollars raised per person affected by the disease.  This is simply to point out the need to somehow increase support for research to end blindness.

So, please, consider getting involved.  All of us hope that we will one day get our vision back or that our children will one day see.  Vision is such an important part of our world, and although we can and do cope with vision loss, fundamentally, we all want the same thing: to end blindness.  This can only be achieved by scientific research, and FFB is by far the leader among NGOs in driving this research.  Our support of them helps ourselves and those we love who are affected.  Thank you for reading this. 

Sincerely,

Martha Steele
Communications Chair