Early diagnosis is critical for children with Usher syndrome. While there is no definitive cure for Usher syndrome, there are a LOT of treatments. There are treatments for hearing loss, treatments for balance issues, and, yes, treatments for vision loss. And many of these treatments are most successful when begun very early in life.
In short, there is something that can be done. Lots of somethings. But you need a definitive diagnosis and you need it as early as possible. Here are just some of the reasons why early diagnosis is a good thing for a family:
Kids with Usher syndrome have hearing loss. Regardless of the communication method a family chooses, be it sign language or oral communication, early detection is the key. Most language is developed in the first five years of life. You need to get started right away and knowing whether you’re dealing with Usher needs to be part of the decision process.
A child with hearing loss does not need mobility training, but a child with Usher syndrome might. Many parents of children with Usher report suspecting that their child had problems seeing at night, but they often only recognize it after an accident has occurred.
Balance is also a concern in families with Usher. Riding a bike, ice skating or simply hiking a steep trail requires different preparation, skills and awareness for kids with Usher. Parents and kids can get creative and plan ahead when they have a diagnosis.
Educational Support Planning
Families that have a child with undiagnosed Usher syndrome may only consider supports for hearing loss as part of the Individualized Education Plan (IEP). Early diagnosis of Usher can change that before visual struggles start to appear. Vision loss changes the way a child learns. For example, a child with night vision problems might need a high contrast or tactile diagram of the night sky for an astronomy class. Those types of visual accommodations need to be part of a child’s IEP.
Future Clinical Trials
There are treatments nearing or in clinical trial that hold the hope of slowing, stopping, or even reversing the vision loss associated with Usher syndrome. But almost all of these treatments are diagnosis specific. In other words, it’s not enough to suspect Usher syndrome. You have to know definitively and you have to know the specific genetic cause.
Many families of children with hearing loss ask the question “will my next child have hearing loss, too?” Usher syndrome is an autosomal recessive genetic disorder. Each child born to carrier parents has a 25% chance of having Usher syndrome. A definitive diagnosis of Usher syndrome will assist parents who are planning to expand their family to make an informed decision.
Satisfies the Need to Know
Knowing removes the doubt. There are thousands of adults with Usher syndrome living happy, productive lives. Knowing this gives families a chance to support their child to take control of their own lives, to find positive adult role models with Usher syndrome, and to envision a future that is vibrant and bright.