Empowering Others Through My Journey With Pendred Syndrome
By Vivian Kao
I am 16 years old and live in California. I was born with Pendred syndrome, which is why I have severe to profound, bilateral hearing loss and wear hearing aids.
Here I am in 2010 with my teacher Connie Yannacone at Haman Elementary. Mrs. Yannacone was the first person in my life who encouraged me to believe in my potential and motivated me to learn. Because of her, I am able to recognize that I can still take on obstacles despite my hearing loss.
To help inform others of my condition and empower other individuals with Pendred syndrome, I created an informational website, which includes the genetic information associated with my condition, treatment, and my diagnosis. Additionally, I wrote a systematic review paper on Pendred syndrome, which is available on the website.
After watching the final round of the International Chopin Competition when I was younger, I realized that I wanted to become a pianist. However, many music teachers refused to teach me due to my hearing loss, and many parents thought it would be unsuitable for me. Despite this, I've figured out unorthodox practice strategies that involve sensing vibrations. Since then, I've garnered state, national, and international awards.
This was taken in kindergarten at Haman, with my good friend Danielle. We are still in touch despite living on different continents.
Recently, I was named a 2024 National YoungArts Winner in Classical Music (selected out of a 9,000-plus applicant pool), and alumni of this award include Timothée Chalamet, Hunter Schafer, Nicki Minaj, and Viola Davis. I also play the cello and was selected as a soloist in California's All State Orchestra.
Through music, I aim to revoke the stigma of hearing loss. In response to telling others that I am a musician, I usually get the response of a tilt to the head and the question, “Aren’t you deaf?” I aim to redefine public perception of the deaf community and our capabilities.
I attended Haman Elementary's deaf and hard of hearing program, and I believe that its resources truly impacted me and still continue to serve me to this day. This is why I created Sonic Scholars, a nonprofit to support the deaf community. Along with bringing awareness to genetic causes of hearing loss among children, I am also fundraising for Haman Elementary.
In the summer of 2023 I took part in a piano competition in Fort Worth, Texas. I performed Rachmaninoff's Second Piano Concerto, and this piece was incredibly difficult as it requires listening to the accompanist carefully. My performance wasn't perfect, but I managed to pull through using visual cues!
About Pendred
Hearing loss affects two to three children in every 1,000. About half of all hearing loss has genetic causes. Genetic hearing loss can be classified as nonsyndromic or syndromic. Nonsyndromic hearing loss, not characterized by other signs and symptoms, affects 70 percent of patients.
Syndromic hearing loss occurs when other organ abnormalities are present, such as effects on the kidneys, eyes, or heart. Over 400 syndromes associated with hearing loss demonstrate different phenotypic and genetic heterogeneity.
First discovered in 1896 by doctor Vaughan Pendred, Pendred syndrome is a form of syndromic hearing loss accounting that may account for at least 4 percent of hereditary deafness. It is characterized by sensorineural hearing loss, inner ear malformations, and irregularities of the thyroid and temporal bone. Pendred syndrome is predominantly caused by genetic variants in the gene SLC26A4, but FOXL1 and KCNJ10 may also be involved.
Treatment involves using cochlear implantation to target hearing loss, anticholinergics or benzodiazepines to treat vertigo, and levothyroxine for hypothyroid patients.
My Diagnosis
Initially, doctors thought my hearing loss might be linked to variants in the connexin gene family, which is a common cause of nonsyndromic hearing loss. Out of the 30 genes that can cause this type of hearing loss, three genes (GJB2, GJB3, and GJB6) are responsible for about half of the cases. Many people with nonsyndromic hearing loss have a variant in these genes.
In 2010, tests were done on my DNA to see if I had variants in the CX26 or CX30 genes, which are part of the connexin family. The tests did not find any abnormalities in these genes, but this didn't completely rule out other genetic causes for my hearing loss, as the tests couldn't detect all possible variants.
I volunteer at a farm where there is a goat named Milkshake.
In 2011, I had more tests done at Stanford. They looked at a different gene called SLC26A4, which is linked to Pendred syndrome. They found two changes in this gene:
A change that affects how the gene is read
A change that alters one of the building blocks of the protein the gene makes
Both of these changes are known to cause hearing loss when a person has two copies of them (either two of the same change or one of each). Given how severe my hearing loss is, the doctors think these two changes are likely the cause. They would need to test my parents to confirm if I inherited one change from each parent or if both changes came from the same parent.
Due to the severity of my hearing loss, I wear Phonak Sky B90-UP hearing aids. While I was offered to undergo surgery for cochlear implantation, I have chosen to wear hearing aids to prevent possible surgical complications.
Since my diagnosis at the age of 3, I have been to countless audiologist visits. Over time, I came to understand the financial weight of the appointments and the expensive price tag of her hearing aids and how accessibility to hearing healthcare is heavily limited for many. Now I hope to pay it forward and help others with hearing loss get the access they need.
Vivian Kao lives in California. For more, see thependredreview.com and sonicscholars.com.