When Rebecca Alexander was in college, she was grappling with a recent diagnosis of Usher syndrome, a genetic condition that causes vision and hearing loss. Meeting the head of deaf and hard of hearing students, Joan E. Smith, empowered her.
“(Her office) was my safe haven. It was a place where I felt so normal. It was a place where she made me feel like who I was and what I was dealing with and what my accessibility needs were (were) commonplace,” Alexander, 45, a psychotherapist in New York City and sister of Saturday TODAY co-anchor Peter Alexander, tells TODAY.com. “She really taught me so much about being able to advocate for myself.”
Years later, Alexander has become a disability advocate thanks, in part, to her mother's and Smith's influences. This year she was featured the Usher Syndrome Society "Every Second Counts" campaign to raise awareness and funding for the rare genetic condition. The 30-second spot recently aired on billboards in Times Square.
“The whole premise behind it is: How would you live your life differently if you knew it was only a matter of time (before) you would go deaf and blind?” she says. “Another piece of it is that every second counts. I’m 45. I was told when I was 12 that in 10 years there would be treatment, and yet I’m still in the same position.”
Vision troubles and hearing loss led to diagnosis
In school, Alexander struggled to see the blackboard, and by sixth grade her dad took her to see an optometrist. The optometrist noticed something in Alexander’s eye, and she needed follow-up examinations. During one set of medical tests, she remembers her mom sitting nearby with a cassette player.
“(She) was playing ‘Les Mis,’” Alexander recalls. “I’m listening to ‘Les Mis” as I’m doing all these tests to try to make it less painful.”
Eventually doctors diagnosed Alexander, then 12, with retinitis pigmentosa, a progressive condition where the some of the retina’s cells break down, leading to vision loss, according to the National Library of Medicine. At the time, Alexander couldn’t “quite comprehend” that she was losing her vision, she recalls. Her mom believed knowledge was power and took her to conferences to learn more about vision loss.
“My mom very much wanted me to have information and be empowered to develop advocacy skills,” Alexander says.
For the most part, life continued as it would for any teen. Alexander understood her vision problems as night blindness and was careful to ask for help navigating dark spaces, such as a movie theater.
“If I went to a movie, I’d have to grab someone’s arm,” she says. “Usually in people with retinitis pigmentosa the vision below them can be very difficult. So, I tripped over the dogs a lot.”
At the time, Alexander also experienced cookie-bite hearing loss, where she struggled to hear some things in a certain range. She recalls watching TV with her left ear turned toward the screen. She started using hearing aids at age 13, but it wasn't immediately connected to her vision loss.
“What we later came to realize is that my left ear was my better ear so … it was the superficial way of compensating for what I didn’t have on my right side,” she says. “We thought it was a funny quirk.”
Alexander enjoyed a “normal” high school experience, she says. As soon as she could, she got her driver’s license, though never drove at night.
“I love driving,” she says. “As a teenager, it’s the ultimate ticket to freedom and independence.”
Initially, her hearing loss was so slight she could hear the softest of sounds with her hearing aids, which “was more distracting that helpful,” she recalls. When Alexander arrived at college, she “experienced a significant dip in my hearing.”
“I couldn’t hear people speak to me over the tinnitus. The ringing was so loud,” Alexander says.
She visited an ophthalmologist and an otolaryngologist, who diagnosed her with Usher syndrome at 19. The otolaryngologist said, “We’ve actually never seen it as it presents itself in you. But because of the progressive vision and hearing loss, it can’t be anything else.”
Doctors in California and even Finland looked at the family’s blood work to help confirm Alexander’s diagnosis was Usher syndrome Type 3. At the time, Alexander struggled with the news.
“Developmentally, I could not really wrap my head around it and I developed these superficial coping strategies,” she says. “I felt like if I could just be academically perfect and as physically perfect as possible, then nobody would know there was anything wrong with me.”
While she admits she was “trying to run away from this very overwhelming diagnosis,” she embraced it in some ways, such as learning sign language.
“I was very curious, and I thought it would be a good skill for me to have,” Alexander says. “On the other hand, I was doing everything in my power to mask what I believed were my flaws.”
Usher syndrome
Usher syndrome is a rare disease impacting about 20,000 Americans, according to Jeff Holt, Ph.D., chair of the Usher Syndrome Society’s scientific advisory board.
“(It) is an inherited disorder that affects both the ears and the eyes,” Holt tells TODAY.com. “It’s subcategorized into three different forms of Usher syndrome, 1, 2 and 3.”
People with Usher syndrome develop hearing loss and retinitis pigmentosa, which progressively narrows the field of vision leading to blindness. Children inherit Usher syndrome, and it’s considered recessive, meaning both parents must carry the genetic mutation and each pass it on to the child.
“Very often the parents (have) completely normal hearing and normal vision,” Holt says. “They don’t even realize that they’re carriers.”
The various types range in severity, and Type 1 is “the most severe.”
“Babies (with Type 1) are born deaf and have rapid progression of vision (loss), so they end up deaf and blind within the first 10 years of life,” Holt explains.
About 60% of people with Usher syndrome have Type 2, making it the “most common form.”
“That one has a milder hearing loss at birth but progresses to profound hearing loss and then a later onset of vision loss,” Holt says.
Type 3, the type Alexander has, is the mildest of the three Usher syndrome types. Like the other types, it involves hearing and vision loss, “but they also progress at a later and slower time.”
In many cases, Usher syndrome is diagnosed when people notice hearing loss, Holt says.
“That hearing loss can then lead to a genetic diagnosis in the clinic, and very often before they even recognize that there’s vision loss, they’ll get a diagnosis,” Holt says. “It can be devastating news.”
There are no treatments or cure for Usher syndrome. Some people, like Alexander, choose to opt for cochlear implants to help them navigate hearing loss. Holt, a professor and director of research in the department of otolaryngology at Boston Children’s Hospital and Harvard Medical School, is involved in investigating possible treatments. His research is in pre-clinical models currently.
“One (treatment) is gene therapy,” he says. “The idea then would be to introduce that (vector) that carries the Usher syndrome protein into the ears and eyes of patients and hopefully restore function.”
The other method attempts to “skip over” the errors in the genetic code and “maybe you can minimize the consequences of the genetic mutation.”
“We’ve got some promising results with both of these,” he says.
Changing the conversation
When Alexander was 18, she was in a bad accident with many broken bones, including her back. That experience shaped her views.
“Instead of focusing on the fact that I had so many broken bones and reconstructed bones ... I focused on whatever the next appointment was,” she says. “That made me feel so much stronger.”
That mindset helps her today. Exercise, too, helps her mentally and even bolsters her balance, which can be wobbly in some people with Usher syndrome.
“When I’m physically active, I’m always focusing on what I can do and I’m pushing myself,” Alexander says. “I’m not focusing on the things I can’t do and what I can’t see.”
Alexander has climbed Mount Kilimanjaro, run with the Olympic torch and swam to Alcatraz. Often people think of these accomplishments as her “overcoming” Usher syndrome, but she doesn't see it that way.
“I haven’t overcome anything. I’ve gone through it, and I think that oftentimes we don’t recognize it’s not the overcoming. I don’t overcome my fears. I live with my fears,” she says. “I go through the grief and loss of having Usher syndrome.”
Her focus on what she can do means that Alexander continues adapting. Over the years, she learned sign language, braille, tactile, and protactile, “a completely novel language” for deafblind people based on physical contact and sensation (instead of hand shapes).
“Protactile allows for group conversations,” Alexander explains. “It has its own grammar and syntax. I am still learning it, but it has a lot of basis in braille.”
While she works as a psychotherapist, Alexander has also taught spin and written a memoir — “Not Fade Away: A Memoir of Senses Lost and Found”— after being approached twice by a literary agent.
“I found (reading memoirs) to be incredibly cathartic. … There was something, this commonality in the human condition that was so humbling and so relatable,” she says. “If I could provide that to other people the way it has been provided to me, it would be very meaningful.”
Participating in “Every Second Counts” also feels meaningful to Alexander. When she saw the ad run on the Times Square screens with her brother, Peter Alexander, she was touched.
“When you grow up and you don’t have any role models, to be able to become a role model for people that you needed, it almost feels like you’re healing your inner child,” she says. “(It) feels so incredible that we did it.”
For more information about Usher syndrome and "Every Second Counts" visit the Usher Syndrome Society website.