Why Early Diagnosis of Usher Syndrome is Important to Families

June 29, 2009

By: Mark DunningĀ 

Imagine you, or your physician, suspect Usher syndrome and you are not sure you want to know. It's a terrifying diagnosis, after all. Deafness. Blindness. You've been told there is no cure. What good is it to know when there is no cure? Will you sleep better knowing that your vision or that of your child will get worse? Or would it be better to remain blissfully unaware, to dream of being an architect or an artist or pilot? Dreams are hope, after all, and even if those dreams don't come true at least you dreamed, at least you had hope. A diagnosis with no cure means no dreams. It means there is nothing you can do but wait for the inevitable tragedy. Who would want a diagnosis like that?

Families grapple with these questions all the time when it comes to Usher syndrome. They do so, however, because they are not properly informed of the current state of Usher syndrome. Yes, there is no definitive cure, but there are a LOT of treatments. There are treatments for hearing loss, treatments for balance issues, and, yes, treatments for vision loss. And as we discussed in previous postings, most 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 the 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. We've just spent the last several posts discussing the ASL vs. Total Communication vs. Auditory Verbal decision, but as we discussed in those posts, no matter what route a family chooses, 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
A single cochlear implant is sufficient to acquire spoken language. Bi-lateral implantation provides additional benefits, such as improved hearing in noisy rooms and potential localization of sound (ie, is a sound on the right or the left). To my knowledge, 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, from consideration. 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.

The diagnosis of Usher syndrome can have a big implant on the implantation decision for a family and as we've discussed, implantation needs to happen at as young an age as possible to promote language development. So, again, early diagnosis is critical for a family.

Safety Concerns
A child with hearing loss does not need mobility training, but a child with Usher syndrome might. It certainly will become necessary over time at night. 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. They act on it after their daughter trips over the dog and bangs her head or their son falls down stairs that are not adequately lit. That could be avoided if parents are aware of the potential for vision problems long before they occur and train the child appropriately.

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, mind you, 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.

Vitamin A
Many physicians prescribe vitamin A for patients with Usher. Many do not. The supporters of vitamin A therapy believe that it can significantly slow the deterioration of vision in those with Retinitis Pigmentosa, especially when taken in conjunction with DHA (see below). There are caveats, of course. High levels of vitamin A can cause vitamin A toxicity which can damage the liver and bones. Further, most physicians don't recommend a diet high in vitamin A until a child reaches a certain age. So don't do this on your own. Discuss it with a physician. But that's the point. Without early diagnosis a family won't weigh the pros and cons of the treatment because it simply won't be discussed at all.

DHA is found in fish oil and is believed to enhance the effects of vitamin A therapy. So those taking vitamin A should also have diet rich in DHA. Most physicians recommend simply eating oily fish such as salmon a couple of times a week. Some people take DHA supplements. The danger in supplementation is that it is not subject to FDA approval, so you don't always know what you are taking. Again, don't do this on your own. Discuss it with a physician. But again, how would you know to do so without early diagnosis.

Sunglasses and hats
There is circumstantial evidence that exposure to bright lights can increase the rate of at which vision deteriorates in Usher patients. It is even hypothesized that it might be the trigger that starts the vision deterioration. Few physicians discourage the use of sunglasses in children, much less those with Usher syndrome, but fewer still encourage the use of sunglasses in a child WITHOUT Usher syndrome. It is only suggested once the diagnosis is made and, as with most treatments, the earlier the diagnosis is made, the better.

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. Now, early diagnosis in this instance does not mean a child will be eligible for the treatment during trials. In fact, children are almost always excluded from such trials for safety reasons. But a definitive diagnosis does provide hope for families. My child has Usher type X and there is a treatment being developed that should help my child. That pretty much shoots the whole 'no cure equals no hope' thing out of the air, doesn't it?

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. It might seem counterintuitive, but in that crushing Usher diagnosis is the chance to dream.

Do you have a question or comment? We'd love to hear from you. Your comments will not be made public without your permission.
Would you like this comment to be made public in future testimonials?