When Rachel Chaikof travels the world, she prefers to go alone. Instead of having to adhere to friends’ schedules or a tour group’s extensive itinerary, she likes to go at her own pace.
A passionate artist, she makes it a priority to take in everything she can: a sunset in New Zealand, ancient ruins in the Peruvian city of Machu Picchu, the glow of the Eiffel Tower at night. Chaikof wants to see it all without being rushed.
Because she knows that one day soon she may not be able to see anything at all.
Chaikof suffers from Usher Syndrome Type 1F, a rare genetic disorder that results in deafness at birth, problems with balance and the progressive loss of vision. There are several mutations of Usher Syndrome, or Ushers, as she often refers to it, but the gene that causes Type 1F is found exclusively in Ashkenazi Jews. As of yet there is no cure.
“I feel like I need time to create a really big, solid memory,” she said.
Although most people with Ushers begin to lose their sight by age 10, Chaikof wasn’t diagnosed until she was 19. During a routine check of her glasses’ prescription, the optometrist noticed that she was consistently missing the first and last letters on each line of the eye chart. She went straight to the hospital for tests and a few hours later her life changed forever.
The initial shock brought her to tears — in three weeks she was to start the Savannah College of Art and Design — but the news was not all bad. As they drove home from the doctor’s office, her mother contacted another family she knew who had a child with Ushers. The child’s mother said that researchers were making great strides with clinical trials and that a treatment in the foreseeable future was not only possible, but likely. Emboldened by this as well as her own thorough research, Chaikof decided to attend art school after all, despite the advice of her parents, who urged her to consider a change in course.
“I said to them that I would be far more upset if I had switched to different goals and a different career path and then a treatment arrived and realized I could have stayed with the original path I wanted to take,” said Chaikof, now 27.
Clinical trials for similar genetic syndromes have had success, with some even demonstrating the capacity to restore vision. To conduct a clinical trial, researchers must find an accurate mouse model for each type of Usher Syndrome, i.e. a mouse or other animal with the same genetic mutation and exhibiting similar signs of vision loss. Only then can potential treatments be tested to ensure both safe and effective results.
To this point they’re only about halfway there. According to Dr. George Diaz, an associate professor of genetics and genomic sciences at the Icahn School of Medicine at Mt. Sinai Hospital in New York, researchers have located a mouse model for Usher Syndrome Type 1F, but the gene does not produce the same result in the retina of a mouse that it does in the retina of a human. Instead, a different model such as a zebra fish, which is sometimes used in clinical trials, must be found.
The results of trials for other retinal diseases are encouraging and suggest that an effective treatment is out there, “but unless we have the right model system to test them, we can never know if this is true.”
A year ago, Chaikof inquired about updates on the research and was disappointed to learn that there were none. While trials for other mutations of Ushers were moving forward, little progress had been made for Type 1F. Rather than accept this, last summer the Chaikof family created Vision for a Cure, a nonprofit foundation designed to raise money toward developing a treatment for this specific mutation.
“We decided we couldn’t be the last in line,” Chaikof said.
Dr. Adele Schneider, medical director at the Victor Center for the Prevention of Jewish Genetic Diseases in Philadelphia, agreed that without a proactive approach, research of this nature often remains stagnant.
“These diseases are rare, so unless you have someone with a specific medical interest or research interest and funding, you need someone with a loud voice to go out to the community and advocate for it,” said Dr. Schneider. She added that Usher 1F is one of the 19 Jewish genetic diseases currently tested at the Victor Center. “It’s very difficult to move unless a group bands together.”
The research is doubly important for the Chaikof family. If both parents carry the recessive gene for Ushers, there is only a 25 percent chance that each child will have it at birth, according to the National Institute on Deafness and Other Communication Disorders. And yet, three months after Rachel’s initial diagnoses, her then-11-year-old sister, Jessica, was found to have the condition, too.
Like Rachel, Jessica was born deaf (both sisters can hear with the benefit of cochlear implants), and her vision has deteriorated to the point where she can’t see at night, something that many people are not aware of. She recalled the time she sat in a lecture hall as a high school freshman when some of her unruly classmates, taking advantage of a teacher’s lateness, turned off the lights. More than anyone else in the room, Jessica was completely in the dark.
“I was panicking and freaking out and crying because I kept trying to explain but no one listened to me.”
In the fall Jessica will attend Wheaton College. That she will need to use a white cane to retain her independence is a source of much angst.
“People who know me well know why I’m using it, but for those who don’t, they will think I’m blind,” she said. “I’m embarrassed but I care a lot about my safety, and that’s why I learned to use it.”
Another goal of Vision for a Cure is to convince others with Ushers or similar symptoms to get tested for Type 1F. More positive tests will give researchers a better understanding of the offending gene and at the same time create a community to advocate for increased research.
One member of that community is Isadora “Dorie” Shapiro, who learned she had Ushers when she was 15. Like Rachel and Jessica, Shapiro, 26, was greatly affected by her inability to drive. Because of a lack of public transportation in Arizona, where she grew up, and an aversion to asking for rides, she relocated to San Francisco.
“I love my family but I had to decide what’s more important: Live in a city where I have to sit on a bus for two hours or be independent in San Francisco.”
Not surprisingly, Shapiro said that Ushers is a major factor in her social life. Although she too has cochlear implants, in restaurants with low lighting she has a hard time understanding her dates without being able to see their lips clearly. It’s also a tough thing to talk about in those settings.
“I don’t want the guy to judge before seeing who I really am,” she said. “It’s hard enough having to discuss your deafness and now behold, you have to talk about your eyes, too?”
Shapiro said that despite the advances with other mutations of Ushers, she’s usually pessimistic about potential treatments, and sometimes she needs her family to remind her to stay positive.
It helps sometimes to listen to Chaikof and her unbridled optimism.
“A treatment has been created,” she says. “It just hasn’t been tested.”
To make a donation to Vision for a Cure or to learn more about Usher Syndrome Type 1F, visit www.usher1f.org