Growing up with Usher Syndrome

Martha Steele

How a cochlear implant helps me cope with progressive vision loss

I have Usher Syndrome, a genetic disorder characterized by a combination of severe hearing loss and retinitis pigmentosa (RP), which causes blindness.  Usher Syndrome is the leading cause of deaf-blindness in the U.S.  RP typically manifests itself initially by poor night vision evident in childhood, then increasingly narrower peripheral field, and finally worsening central vision.

Usher Syndrome can occur with different degrees of severity.  Type 1 is characterized by profound hearing loss at birth and severe balance problems.  Type II is characterized by moderate to severe hearing loss and no balance problems.  Type III patients have normal hearing at birth, with hearing loss occurring later in life.  In all three types, RP occurs, with Type I patients typically losing their vision more quickly than the other types.

I was diagnosed with hearing loss when I was about four or five years old.  My mother tells me the story of driving a car with a friend in the front seat and me in the back seat.  Her friend noticed that every time Mother spoke to me, whether moving or at a stop, she turned her head to face me before she spoke.  Not long after that observation, my parents took me to an audiologist for a hearing test.

I was fitted with hearing aids (the kinds worn in pockets with a wire up to the mold in your ear), and attended first grade at a special vocational school 60 miles from home.  That year was heart wrenching for my parents, as I had to live during the week with a foster family. But it proved to be life changing, teaching me the necessary skills to cope with severe hearing loss and to catch up to my peers in verbal communication skills.  Among the skills that I learned and became highly adept at was lip-reading.

I returned to mainstream schools in the second grade and went on to do well academically and athletically throughout my academic career.  I was totally unaware of any vision issues through high school, although I did know that my night vision was not as good as that of my friends and family.  Nonetheless, it wasn’t that bad, and I could easily drive at night during those years.

It was not until I was 25 years old that I was diagnosed with RP.  By then, my peripheral field had narrowed to the point that I was often bumping into things out of my field of vision, such as fire hydrants, chairs, little children (yikes, I got some hostile looks from parents!), and other objects.  Although devastating news, I soon learned that the decline in vision would be gradual and that I could expect decent central vision for many years.  So, in a sense, I put the diagnosis in my back pocket, and moved on.

In some cases of Usher Syndrome, early degeneration of the cone cells in the macula leads to loss of central acuity.

Eventually, the narrow field resulted in my being declared legally blind by the time I was 30 years old.  In 1984, I stopped driving cold turkey.  I was in a busy mall parking lot with few of the typical rules of the open road and had several near misses for fender-benders or pedestrian nudges.  I knew then that I was not willing to risk hurting anyone as a result of my visual limitations.

Hearing aids have been a part of my life and have served me well navigating through life.  I don’t recall much difficulty in classrooms understanding teachers, nor do I recall difficulties hearing coaches and teammates during various athletic competitions.  I did rely heavily on lip-reading to help me understand what I was hearing, and I relied on other visual cues to help me understand the surroundings, context, and meaning.  It does not appear that Usher Syndrome, at least Type II, results in a similar progression of hearing loss as it does with vision loss.  Still, as I got older, I noticed more difficulty in certain situations, perhaps as much because of the aging process as anything.

But what really began to affect my ability to understand speech was the gradual loss of being able to lip-read as my central vision began to worsen.  This started happening about five years ago, when I was 55 years old.  At that time, I could read easily, I could shop easily, I could see faces easily, and I could watch television easily.  Within a year, all of those things were notably more difficult, and today, I cannot do any of them without assistive technology or someone’s help, if at all.

Losing vision of course means that I cannot read lips any more, and losing that ability means my speech understanding was significantly affected.  I noticed a few years ago that I was having more and more difficulty understanding people at large work meetings, where someone at the other end of the table was virtually impossible for me to understand.  I began avoiding situations that had before posed no issues.  I said “What?” much more often than I could ever remember, even in a quiet conversation at a dinner table.  I was more and more reluctant to try restaurant settings, cocktail hour events, riding in cars with anyone I didn’t know very well, or representing my employer at public meetings.  I was lucky that as my difficulty in understanding declined, my employer adjusted along with me, not requiring my presence at certain meetings that I used to attend regularly.

It was obviously time to seek some assistance.  My first attempt was to use FM systems to enhance one-on-one conversations, as well as the ability to converse in noisy environments.  These systems are very, very good for one-on-one interactions, especially in noisy environments, but they are not ideal in a group situation.  You simply cannot easily pass a microphone around a room, or around a dinner table, it is just not feasible and I found quite awkward.  We tried different types of attachments that would set a microphone up in the middle of a group of people, but invariably, most people would not speak loud enough for the microphone to adequately capture sound.

This was definitely becoming a problem.  It’s hard enough to start down the path of shadows or darkness, but to also cope with increasing difficulty understanding speech was a double whammy.  In the spring of 2009, I attended a seminar in the Boston area geared toward the Usher Syndrome community.  During the session, an ENT physician casually mentioned as an aside that cochlear implants were becoming more available as eligibility criteria for them were rapidly evolving.  My ears perked up, and I sought the physician out after the meeting to talk to her.  She urged me to make an appointment with my ENT physician to discuss a possible referral to cochlear implant specialists.  That was the beginning of the rest of my life.

To be continued…