Going to Boston

Own the Equinox Day 9 | Journey Through Hearing and Vision Loss: Living with Usher Syndrome

By Martha Steele

In the days following my retinitis pigmentosa (RP) diagnosis, I mostly remember just crying. Mother and I returned to our Westmore, Vermont, home to join Erland and try to sort through the implications of the diagnosis. Our home in Westmore is on a beautiful and rural parcel of 120 acres of largely hardwood forest with some coniferous plantations. I loved to hike the many trails in the area and to swim in nearby Lake Willoughby.

Neither Mother nor I can remember exactly when we got the Boston appointment scheduled for but we know it was within a few weeks after the initial diagnosis. In the meantime, I just kept crying. It was so hard to look at the beauty around me, knowing, or so I thought, that I would soon not be able to see any of it. Erland and Mother were a tremendous source of solace and strength, although they too must have been feeling my pain.

The day came that Mother and I left to go to Boston. My appointment was with Dr. Ronald Pruett at the Retina Associates on Charles Street in Boston.

The appointment would be a long one involving multiple tests, dilation, and photographing of the retina.

Like all such appointments, you are with various technicians for most of the day and then end with the doctor who reviews the test results and examines your eyes with his or her instruments. My experience with Dr. Pruett could not have been more different than that with the Burlington ophthalmologist.

It was Dr. Pruett who calmed my fears and helped pick me up. He confirmed the RP diagnosis but provided a lot more information about the likely progression of vision loss. He was a kind and empathetic man who spent a good amount of time with me and Mother, answering our questions and talking about RP.

RP is an inherited disease and because there had been no family history anywhere on either the maternal or paternal side, we knew that I had received a recessive gene from each of my parents, just the luck of the draw. RP destroys the rods and cones of the retina, the photoreceptor cells that are responsible for vision. Rods are responsible for night vision and peripheral field, while cones are responsible for central vision and detail and color vision.

Typically, RP manifests itself first as loss of night vision, something I had been familiar with for most of my life. The next step in the disease progression is loss of peripheral field. The RP, of course, explained why I tended to bump into things or why I did not notice things out of the corner of my eyes. The final phase of progression is loss of central vision, when the cones too die off.

There was no known cure and no available treatment. Dr. Pruett also explained that in my case, he would expect that I would enjoy good central vision for many years. He explained that the progression would likely be very slow and he did not see a reason to radically change the course of my life or plans at that time.

Dr. Pruett also talked about the various stages of “blindness.” I don’t remember hearing the words, visually impaired, but he noted that one can be legally blind based on a definition of narrow peripheral field and still have excellent (e.g., 20/20) central vision. On the day of that appointment, my visual field had not yet met the definition of legal blindness but he predicted that it would within 5–10 years. Thus, my Burlington doctor saying I would be “blind” in 10 years was actually correct, but “blind” in this case was a legal, not functional, definition. I was already visually impaired and that impairment would worsen over time, but I would still be able to see, and see centrally very well for likely many years beyond being legally blind.

My mother and I walked out of that appointment with our spirits considerably higher and feelings of a much more optimistic future. I was beginning to better understand RP and what I would be contending with. But I had not yet heard of the words, Usher syndrome. Those dots would not be connected until sometime later.

Tomorrow: Connecting the Dots: Usher Syndrome

Alvin and Martha with Greg Donnelly, the new President and CEO of the Carroll Center for the Blind.

August 31, 2016: 18 Days Until Usher Syndrome Awareness Day
Miles Walked Today: 5.5 miles, Arlington and at the Carroll Center for the Blind Campus is Newton, Massachusetts
Miles Walked To Date: 48 miles

Martha Steele is a member of the Board of Directors of the Usher Syndrome Coalition, as well as the Board of Directors of the Carroll Center for the Blind in Newton, MA. She also serves as a National Trustee and Boston Chapter president of the Foundation Fighting Blindness.