At Patient Worthy, we love to see patient advocates and the impact that these advocates have on their communities. For example, brothers Ethan and Gavin Morrobel have worked tirelessly as spokesmen for the Usher Syndrome Coalition to raise awareness around Usher syndrome, a rare inherited disorder characterized by deafness and vision problems, or progressive vision and hearing loss. Now, their town of Scotch Plains, NJ has denoted September 18, 2021 as Usher Syndrome Awareness Day, according to Tap into Scotch Plains/Fanwood.
Awareness Day
The decision to name September 18 as Usher Syndrome Awareness Day began with Ethan and Gavin’s work, which was uplifted by Mayor Josh Losardo. When the boys were first diagnosed, their mother, Pam, was unsure what the future would look like for her sons. However, she is proud to say that the town, school, and community have all worked to ensure that the boys are taken care of.
Having the awareness day officially decided was also very exciting for Ethan, who is about to start his time at college! He explains that he even put off leaving for college (although he will soon) to see the day named and to participate with his town. Ethan shares that the town choosing to create an official awareness day means that he and his brother’s hard work has been recognized and appreciated.
The pair often act as spokespeople for the Usher Syndrome Coalition, whose mission is:
to raise awareness and accelerate research for the most common genetic cause of combined deafness and blindness. The Coalition also provides information and support to individuals and families.
Usher Syndrome
Altogether, there are over 11 genes – and gene mutations – associated with Usher syndrome, a rare genetic disorder. For example, CDH23, USH2A, HARS, USH3A, WHRN, and ADGRV1 gene mutations have all been associated with the development of this disorder. In each case, these mutations are inherited in an autosomal recessive pattern, meaning patients must inherit one defective copy from each parent in order to have this disorder. An estimated 400,000 people globally have Usher syndrome. Patients are often born with some hearing difficulties and vision difficulties (retinitis pigmentosa, or RP), though some may be born with normal hearing and vision which grows progressively worse.
There are three main forms of Usher syndrome, all with varying symptoms and onsets:
- Type 1. This form, and type 2, are the more common subsets. In this form, patients have profound hearing loss or deafness at birth. While some patients who are born Deaf can regain hearing with cochlear implants or hearing aids, these interventions may not work for patients with Usher syndrome. In addition to hearing loss, patients experience:
- Balance problems
- Difficulty sitting or walking without support
- Retinitis pigmentosa
- Progressive vision loss before age 10
- Poor night vision
- Type 2. While patients with this form are usually born with some level of hearing loss, they do not experience the same balance issues as those with Type 1. Symptoms include progressive hearing loss and night blindness, which typically occurs between teenage years and early 20s.
- Type 3. This is the rarer form of Usher syndrome. In fact, patients with Type 3 often have normal hearing, and sometimes normal vision, at birth. However, over time, hearing and vision grow worse. By late adolescence, patients often experience hearing loss and require interventions by mid-adulthood. Additionally, patients experience night blindness and blind spots by late adolescence, becoming legally blind by mid-life. Patients with this form also experience balance issues.
Learn more about Usher syndrome.
