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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’s just some of the reasons why early diagnosis is a good thing for a family:
Communication Skills
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.
Bi-Lateral Cochlear Implants
Many families pursue cochlear implantation for their child with hearing loss. While a single cochlear implant is sufficient to acquire spoken language, bi-lateral implantation may provide other benefits, such as improved hearing in noisy rooms and potential localization of sound (ie, is a sound on the right or the left). There are still no definitive studies on the benefits of bi-lateral cochlear implantation, however, and cochlear implantation causes some currently irreversible damage to the cochlear that might eliminate future therapies, such as hair cell regeneration. So many families choose a single implant to keep their options open for future therapies.
But if your child has Usher syndrome and might one day be completely dependent on his or her cochlear implants for communication, it might make more sense to get bi-laterally implanted. That way should one ever fail your child would not be completely separated from sound. He or she could use the remaining implant until the damaged implant is repaired. We are not advocating bi-lateral cochlear implants here or even the cochlear implant in general, but you should know if your child has Usher if you want to make a fully informed decision.
Safety Concerns
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.
Treatments
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 a number of treatments nearing 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.
Family Planning
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. Usher syndrome is bad, but it’s not fatal. There are thousands of adults with Usher syndrome who have lived happy lives. Knowing gives families a chance to act, to take control of their child’s care, rather than wonder if there is something else, something larger, lurking in the shadows.
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