Family Takes Action After Facing Usher Syndrome

According to a story from newton.wickedlocal.com, the first time that mother Melissa Chaikof realized that something was wrong with her oldest doctor was many years ago. When a nearby door slammed loudly, her infant daughter, Rachel, failed to respond. She couldn’t hear it. Rachel would eventually be diagnosed with Usher syndrome type 1F, which can inflict both hearing and vision loss. It took decades before Rachel was diagnosed. Now 32 years old, her younger sister Jessica, age 24, was also diagnosed with it.

About Usher Syndrome

Usher syndrome is the leading cause of deafblindness (the state of being both blind and deaf); however, the disorder is still generally rare. The syndrome is currently uncurable and there are three different types. There are a total of 11 different genes that, if mutated, can cause the disorder. Usher syndrome type 1 is linked to mutations of the CDH23, MYO7A, USH1G, PCDH15, and USH1C genes. Patients with this type are often born almost completely deaf. Vision loss is linked to retinitis pigmentosa, in which the retinal cells degenerate over time, and hearing loss is due to defects of the inner ear. There is no known treatment that can stop the progression of symptoms; gene therapy may be the most effective avenue for research. The rate of disease progression can vary drastically from person to person. To learn more about Usher syndrome, click here.

Taking Action

Rachel and Jessica both use cochlear implants to help with their hearing, but they are both now facing vision decline as a result of retinitis pigmentosa. Years, ago, the family started a nonprofit organization in 2014 called the Usher 1F Collaborative, dedicated to fundraising for disease research and treatment. Since its founding, the organization has doled out over $1.8 million in grants that will go towards Usher syndrome type 1F research.

The organization will soon be holding a fundraiser called Sight.Sound.Shop. which will be held on October 13th from 1-4:30 pm and will be conducted as a silent auction that will feature used clothing and arts and crafts.

To learn more about this event and the activities of the Usher 1F Collaborative, click here.


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