Both of my girls and I have always worn glasses. Thus, in July 2006, we went together for our annual ophthalmology appointments. It was the first year we had switched doctors, and we were seeing two new doctors at Emory, the hospital where Elliot works. I went in to see one doctor while Rachel went into another. Jessica was to follow Rachel. When Rachel and I met up in the waiting room waiting for our eyes to dilate, she asked me if anyone had ever said anything before about her having a constricted visual field. I felt my stomach drop but tried to remain outwardly calm for Rachel’s sake. Early on, we had learned of a genetic cause of deafness, Usher Syndrome. All of those with Usher Syndrome type 1 are born profoundly deaf with vestibular issues. However, all those born profoundly deaf with vestibular issues do not have Usher Syndrome. We had found many traits on my mother’s side of the family of another genetic syndrome which can include vestibular issues, and so that is what we had thought and hoped we were dealing with. Usher Syndrome includes retinitis pigmentosa (RP), the gradual deterioration of the retina. Most children with this syndrome are identified with RP by age 10. However, even though the ophthalmologist we had been seeing knew that I was concerned about it, it had gone undetected until Rachel was 19. As difficult as it had been 19 years earlier to get the news of Rachel’s deafness, learning that both of my girls had Usher Syndrome was far worse. Only Rachel understood it at the time, and watching her crying and trying to cope with the news was the most painful thing I have had to live through. Finding this out a month before she was to start her freshman year at a visual arts college only added to the pain.
I called my husband, who was across the street in another Emory building seeing patients. He left them with his physician’s assistant and called the Chief of Ophthalmology while he was on his way over, and he met us with Elliot. While the assistants in the office where we were insisted that the retinal specialists were too busy to fit Rachel in that day for conclusive testing, it was one of the few times we used connections and let the Chief of Ophthalmology take them aside and tell them that they would fit Rachel in. Thus, a very long day ensued, with Rachel going through an electroretinogram and a visual field test. Both confirmed the news of RP. What didn’t help was the retinal specialist who looked at the tests and gave us the results. She epitomized a bad bedside manner as she yelled at Rachel, asking her how she could not have noticed that she had lost some of her visual field. I made the decision right then and there that we were never seeing that doctor again.
We had started out our “routine” appointments at 8:00 that morning and did not get out of Emory until 2:30 that afternoon. While we wanted to go home and be left alone, we couldn’t because Rachel’s friend from France was on a plane all day making his way to Atlanta to spend two weeks with us, and we had to go straight to the airport to meet his flight that was landing at 3:00 p.m. While, in some ways, having company then was difficult, in other ways it was a good thing because it forced us to go on with life and even enjoy it. We not only toured Atlanta but also took her friend to Washington, D.C., for a few days, something only Rachel had done before, and so Adam and Jessica also enjoyed it.
Elliot stayed behind and spent the two weeks calling every retinal expert in the U.S. to pick their brains. He learned of the first ever Usher Syndrome conference planned for that fall and attended the conference in October. Through the conference, he learned of one genetic mutation that causes Usher Syndrome that is classified as Usher 1f and runs in 2.5% of all Ashkenazi Jews, which both Elliot and I are. The gene had only been identified three years before and, therefore, even though we’d had genetic testing done twice before, our mutation had gone undetected. At the conference, Elliot had the good fortune to meet the researcher who had our blood samples. Although it usually takes months to even a couple of years to get results from this lab, the researcher pulled Rachel’s sample when he returned to work and called Elliot to let him know he had found two copies of the Usher 1f mutation in Rachel’s sample. A lab at the NIH, in conjunction with a lab at the Technion in Israel, is studying our gene, and so the NIH performed DNA testing on the rest of us except for Adam. Not surprisingly, they found one copy of the mutation in Elliot and me and two copies in Jessica. Later testing through Harvard found that Adam is not even a carrier. Talk about luck of the draw! He had a 2/3 chance of being a carrier like Elliot and me but had escaped it.
One amazingly coincidental story that is worth mentioning – When I first learned of Rachel’s Usher diagnosis, I joined a few Usher and RP listservs on YahooGroups. On one of those listservs one day, a mother wrote in. She said she was from Ottawa and had a daughter with Usher Syndrome type 1 who was now 22 and had gotten a cochlear implant at NYU when she was four years old. Rachel was only the 13th child to receive a cochlear implant at NYU, and so I knew that this girl from Ottawa had to be the same one whom Judy Simser had mentioned to Lea Watson so many years before. I emailed her mother, and sure enough she was. Both Rachel and this girl have since connected via email and Facebook.
While Rachel struggled initially with the diagnosis, especially once her friend from France left, she once again proved her strength when she picked herself up, said that she had never let her disabilities stop her from doing what she wanted before and wasn’t going to let this latest hurdle stop her either. She is now in her junior year at SCAD and is an outstanding documentary photographer. You can see her portfolio online at http://rachelchaikof.com/portfolio/ . She has continued to travel and is easily one of the most independent women I know of any age. She has traveled by herself to several areas in France, staying with host families there, to Italy to meet a family with a son with a cochlear implant, to Australia to meet an online friend of mine who has a son with a cochlear implant, to New Zealand where she met another implant recipient, and to Israel. She is now planning four weeks this summer in South America where she will participate in intensive classes in Spanish, which she hopes will increase her chances of acceptance into the Peace Corps after she graduates from college in the spring of 2010.
Rachel has continued to be an advocate for cochlear implants, both through www.cochlearimplantonline.com, through speaking up on other blogs and through becoming a Cochlear Awareness Volunteer. This past December, while in Australia, she gave several talks to the employees of Cochlear Corporation about her life as a cochlear implant user. Then, Cochlear flew her to Adelaide where she gave a talk about bilateral cochlear implants at an Auditory-Verbal center there. Also after her freshman year of college, she won the Graham Clark Scholarship Award. “The Graeme Clark Cochlear Scholarship Foundation recognizes the remarkable achievements of Nucleus cochlear implant recipients annually by providing tuition assistance.”
Rachel cites her philosophy in the form of a quote, “Today is a gift. That’s why it’s called the present.” That is how she views her RP. There is much promising research into an effective treatment for RP that Elliot and I follow very closely. One particular treatment is already in phase II/III clinical trials, and our hope is to get Rachel into the next phase of clinical trials, although we don’t yet know when that will be. There is so much promising research, including gene therapy, stem cell transplants, and drugs, that we believe there will be an effective treatment in our girls’ lifetime. It just can’t come soon enough. Meanwhile, Rachel and Jessica continue to live their lives from day to day, taking full advantage of all that life has to offer.