Rachel Chaikof was two years old when, with the help of cochlear implants, she heard her mother’s voice for the first time. “Cry Rachel, cry Rachel, ” her mother sang, alongside Rachel’s grandmother, who clapped her hands, watching her granddaughter, born completely deaf, respond to sound. “My family and I never understood why my sister and I were born deaf,” Rachel, now 30, says, “We knew it was genetic, but we never really had an answer.”
The answer came in 2006 when Chaikof, preparing for her first year at the Savannah College of Art and Design, was diagnosed with Usher syndrome Type 1F, a rare disease that causes profound hearing loss from birth and impairs vision beginning in adolescence, according to the National Institutes of Health. The genetically rare disorder is more prominent in the Ashkenazi Jewish population, with approximately 2 percent of Jews as recessive genetic carriers.
Rachel’s parents—both Ashkenazi Jews—couldn’t get screened to see if they were carriers of the mutated gene that could lead to Usher 1F before Rachel was born in 1987 because the mutation wasn’t discovered until 2003. It was only after Rachel’s diagnosis of retinitis pigmentosa, a genetic eye disorder associated with Usher syndrome, that her entire family was screened for Usher 1F and they discovered both parents are carriers.
In response to their daughters’ diagnosis, Rachel’s family began the Usher 1F Collaborative in December 2013 to find a cure. “Usher 1F was lagging behind in research,” Rachel says. But in the past four years, researchers have found two animal models to begin gene therapy and potential treatment to hinder the disease and restore vision loss. “Because of this foundation, I have been feeling more and more hopeful that I will never have to worry about going completely blind,” says Rachel.
Since her diagnosis, Rachel has studied photography at art school, then continued her education in England, completing her graduate degree in anthropology. This October, she returned from a tour in the Peace Corps, educating disabled persons on health in Cameroon. “The Peace Corps stole my heart,” she says of the organization that first rejected her on a claim that her hearing impairment would affect her service. After learning that several people with hearing disabilities had been admitted to the Peace Corps, Rachel reapplied. “I was able to show the world what a person with disabilities can do,” Rachel says of her work that inspired her career goal of international development.
Being diagnosed with Usher1F has made Rachel keenly aware of her diminishing vision. “I want to see as much of the world as I can,” she says, and she uses all of her vacations to travel the world. Rachel takes Vitamin A and exercises regularly, both believed to suppress vision loss. Although she has Usher 1F, it can only be passed onto her children if her partner is also a carrier of the recessive gene.
Although her disease presents life-long challenges, it has given Rachel a deeper understanding of her heritage. “I always thought being Jewish was about practicing religion; I never fully understood that it’s about ethnicity too, and the history behind it.” Having traced the roots of her disease by going back in her family ancestry, Rachel finds that her faith is not only spiritual but also physical and genomic. She says, brushing a stray hair behind her ear, her hand grazing her cochlear implant, “It’s like solving a mystery.”