Usher Type 3A
Meet Rachel Brock
My name is Rachel Brock. I am 29 years old and reside in Tennessee. I was diagnosed with hearing loss at the age of 2 in 1996. Originally, my pediatrician believed it was due to lead poisoning. I grew up in a house that had been built in the 1920s. As a result, I was fitted with my first pair of hearing aids immediately and started many years of speech therapy. Around the time I was 17 years old, I started feeling like I wanted to see what it would be like to immerse in a community of others that could share my experience with hearing loss, as well as the difficulties in navigating society in terms of discrimination, or ableism. It must have been meant to be because I received emails from Gallaudet University about enrolling there during this time period. Prior to this, I had NEVER even heard of Gallaudet! I decided to give it a try and see what could happen.
Two weeks prior to heading off to Washington, D.C., I went in for a routine eye exam and was sent off to a specialist that same week. The doctor had found abnormalities, but wouldn't clarify what the possibilities could, or would be. After doing many tests and eye exams in the specialist's office, he determined the result was retinitis pigmentosa or RP. I continued on with college as planned, but visited another specialist during my next break that year. The specialist at Vanderbilt University in Nashville, TN, believed with the combination of hearing loss and vision loss that I likely had Usher syndrome. At this point, I had already done my own research and happened to be roommates with another young lady that happened to have Usher syndrome as well! This diagnosis seemed very fitting, and at this point, the doctor determined that I likely had Type 2A.
I am not sure if they did not do genetic testing or why I was not offered that in 2012/2013. As I have become a wife and mother of two beautiful children since my diagnosis, I decided to get genetic testing done to confirm my results, along with ensuring that I am able to give my children as much information possible for their future one day. They also had testing done at this time. Surprisingly, my results came back that I have Type 3A! My children's results came back that they do not have Usher syndrome, but they are carriers for it. I was a bit shocked about my results since Usher syndrome Type 3A is typically only found in 2% of the Usher syndrome community. It is also most commonly found in individuals with a heritage of Ashkenazi Jews and Finnish populations, neither of which I was known to have. After doing some ancestry testing, I do have a large portion of German heritage in my family's background so that could be where the gene comes from.
Recently, my hearing had dwindled to the point where I was becoming increasingly frustrated with trying to understand people, especially my family, so I underwent surgery twice in the past year. I am now a bilateral cochlear implant recipient! It has definitely been a journey learning more and more about myself through Usher syndrome alone!
2023.5
