Why is early diagnosis important?
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 or ice skating or simply hiking a steep trail can be dangerous for kids with Usher. Not undoable, mind you, but dangerous without the proper preparation. Parents plan ahead when they have a diagnosis where they might not without it.
Educational Support Planning
Vision problems can hinder a child’s ability to learn. A child with night vision problems might not do as well in an astronomy class, for instance, when he or she can’t see all the stars in the sky. It needs to be part of a child’s Individual Education Plan. Families that have a child with undiagnosed Usher syndrome often only consider hearing as part of the IEP, not vision. Early diagnosis changes that and changes it before the unexplainable struggles start to appear.
Yes, treatments. Not cures, mind you, but viable, regularly prescribed treatments. Some of these are controversial and you should discuss them with your physician before embarking on them, but they are treatments none the less. And they are treatments that are not even mentioned unless a child is diagnosed with Usher syndrome.
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 genetic disorder. Each child born to carrier parents has a 25% chance of having Usher syndrome. Parents can only take this into consideration when planning a family with a definitive diagnosis.
Satisfies the Need to Know
This argument for early diagnosis is the most ambiguous but also might be the most important. It removes the doubt. There are thousands of adults with Usher syndrome living happy, productive lives. Knowing gives families a chance to act, to take control of their child’s care.