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Monday, June 29, 2009

Why early diagnosis of Usher syndrome is important to families

By Mark Dunning

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.

Treatments
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
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.

Friday, June 12, 2009

Bringing It All Together

By Mark Dunning

Now it’s time to pull the discussions in the last three posts back together with the discussions at the May 12th Conference. First, I feel pretty confident that I hit the middle ground in laying out the various management options for the hearing loss aspect of Usher syndrome. I know this because I got passionate e-mails from folks on all sides asking me how I could or could not advocate for or against each particular option. To be clear, I am not advocating any option, only that all options be discussed openly and honestly with families. Still, it’s great to see such passion and it helps illustrate the point these last few posts.

We need to identify all types of Usher syndrome as early as possible for the sake of the families.

The choice to sign or not to sign is highly emotional and very difficult to make. Further still, each choice has a better chance of success if it is made as early in the life of the child as possible. In fact, most language development occurs in the first five years of life. So it’s no surprise that Auditory Verbal Therapy is more successful the earlier a child is implanted or gets hearing aids. A child needs sound if they are going to learn to listen, after all, which is one of the tenets of AV Therapy. Likewise, total communication is by definition a bridge to spoken language. The longer one waits to build that bridge, the worse the results. And ASL is a language that is unfamiliar to many families when their child is diagnosed. So parents not only have to teach it to their child, they also have to learn it themselves.

Parents are under the gun to make difficult decisions from the moment their child is diagnosed
with hearing loss. Do you choose a cochlear implant or ASL? Do you choose AV or total communication? Each of these decisions has a profound effect on the future of a child. The decisions effect their social life, their education, and their happiness. And each of these decisions might be dramatically effected were the parent to also know that the child had Usher syndrome and their vision was at risk.

In the May 12th conference there was a lot of discussion around screening and early diagnosis. Now, it’s been awhile since earlier posts on the conference. You can still go back and read them, but let me review them for a moment.

First, we are struggling to develop a screening program for Usher families because we simply don’t know what Usher looks like in young kids. We don’t know this because Usher kids are not being identified at a young age because we don’t have a screening program. It’s a chicken and egg problem and it's stunting the development of therapies for vision loss.

In the second post about the conference, we talked about the impact of the diagnosis on families. It is emotionally devastating, especially coming as it does on the heels of a hearing loss diagnosis which on it’s own can be crippling. The diagnosis is so difficult for families, that many physicians question whether it is ethical to even tell families about the diagnosis without acceptable treatments to offer. Grant organizations tend to agree. And there lies the problem.

We need to identify kids at as young an age as possible to be able to develop therapies AND, as we just spent the last three posts discussing, to give families as much time as possible to make the proper decisions around hearing loss therapies. But we can’t develop adequate screening programs without adequate funding and grant organizations are unwilling to provide funding for early diagnosis when, in their eyes, the diagnosis is too devastating for families given that there are no treatments.

So all those postings and all that time spent in the conference leads us to this: We need to develop a compelling message for why early diagnosis is important. We need a message for the families so that they can properly make decisions on hearing loss therapy. We need it for physicians so they understand the importance of early diagnosis on the emotional well being of the family. And we need it for the grant organizations so they understand why it is important to fund screening programs. So that’s what the next few post will be all about.

Thursday, June 11, 2009

To Sign or Not to Sign Part 3: Auditory Verbal Therapy

By Mark Dunning

To sign or not to sign is still the question before us, only this time we’ll look at not to sign. This is generally represented by the Auditory Verbal Therapy approach. As stated earlier, the technology today allows people with hearing loss access to more sound than at any point in history. While it is not a cure for hearing loss, it certainly can be considered a cure for the acquisition of spoken language. Children that use digital hearing aids and cochlear implants that get the right supports can learn to speak and understand spoken language at a level on par with hearing children.

One of the options for support of spoken language development is Auditory Verbal Therapy. Unlike Total Communication (see part 1), the AV approach discourages the use of sign language for children with hearing loss for whom the goal is spoken language acquisition. The idea is one of total immersion, no different than learning any other language. If you want to learn to speak French, the best way is to go to France and speak French. Well, if the goal is the acquisition of spoken language, the AV approach concludes, the best way to accomplish this is by focusing solely on the acquisition of that language and no others.

There are pretty obvious reasons why this approach would be a valuable management option for children with Usher who are at risk of losing their vision, but here they are in no particular order:

AUDITORY VERBAL THERAPY

Most parents of children that are candidates to get the cochlear implant choose the cochlear implant
There are no hard figures on this, but discussions with a number of the leading institutions in the country lands the number of parents choosing cochlear implantation for their eligible child at somewhere between 95-99%. Parents that choose the cochlear implant are implicitly making the choice of spoken language, not ASL. Well, if spoken language is the goal for 95-99% of all cochlear implant candidate children, why even bother with sign?

Learning spoken language only reduces the stress on parents.
It takes a lot of effort for children with hearing loss to learn spoken language. There are speech therapy sessions to attend and mappings for implants and tunings for hearing aids and meetings with teachers. It can all be overwhelming for a parent. Most parents don’t know sign language when they learn their child is deaf. So now they have to learn sign language and teach it to their child while still doing all the things necessary for a child to learn spoken language. It is a lot to ask of parents already fraying from the diagnosis.

Earlier mainstreaming leads to better socialization
One of the important tenets of auditory verbal therapy is early introduction in a mainstream environment. Again, this is the immersion approach. Children don’t go to special schools or attend special classes. They do get external supports because, like all kids with hearing loss, spoken language acquisition is more difficult for them, but otherwise they are just like all the other kids. They play with the other kids, learn with the other kids, and most importantly, they socialize with the other kids.

Kids with Usher syndrome are at risk of losing their vision
This is the big one, the granddaddy that trumps all other arguments for the auditory verbal approach. Why teach a visual language to kids that are at risk of having too little usable vision in the future to use it?

There are more options for management of hearing loss in kids with Usher syndrome, but they are shades on the spectrum. We’ve covered the sign only approach (ASL), the voice only approach (AV), and the middle road (Total Communication). In the next post we’ll sum up our discussion of management options and explain why on earth we had it in the first place.

Wednesday, June 10, 2009

To Sign or Not to Sign Part 2: American Sign Language

By Mark Dunning

To sign or not to sign is still the question before us, only today we’ll talk about American Sign Language (ASL) as a management option for Usher Syndrome. Historically, this has been more than just ASL for people with Usher. Eventually, as their vision degrades, people with Usher who had used visual ASL turn to tactile sign. There are a number of different variations on tactile signing, but for most people with Usher it means one of two things. For those with limited but still useful vision, it usually means holding the wrists of the signer in a location within the receiver’s field of vision. For those without useful vision, tactile sign usually involves the receiver placing his or her hand on the back of the signer’s hand and following the movements or the finger spelling of each letter of each word in to the palm of the receiver’s hand.

Only a small percentage of the overall population knows American Sign Language and only a small subset of that group knows tactile sign. When compared to spoken language, the population is miniscule and it’s a frightening thought for many parents of newly diagnosed children. So why even discuss ASL as a management option for kids with Usher syndrome? Here’s four reasons:

AMERICAN SIGN LANGUAGE AND TACTILE SIGN

Usher Adults Who Use ASL Are Successful and Happy
As a parent without vision or hearing problems, I rely heavily on both my sight and my hearing to live my life. It is hard for me to imagine being happy were I to lose them. The truth is, though, that the majority of Usher adults I have met are happy. There are vibrant deafblind communities in the United States and elsewhere where families live happy lives using tactile sign as their primary means of communication.

Now don’t get me wrong. This isn’t an argument about what is easier or offers more opportunity. It is simply about happiness which, ultimately, is what we’re all pursuing. A career, money, family, opportunity, are all about happiness in the end and Usher adults who use ASL can be, and usually are, happy.

Treatments for Vision Loss Associated with Usher May Be Available Within the Next Decade
There are a number of clinical trials under way that hold the promise of halting and even reversing the vision loss in people with Usher syndrome. The argument against a discussion of ASL as a management option always begins with ‘For someone at risk of losing his/her vision…’ Well, what if that’s not true?

The more time I have spent speaking with researchers, the more convinced I have become that viable treatments for all types of Usher syndrome will be available for general use within the next decade. A child born today, even a child with one of the most aggressive forms of Usher syndrome, can expect two decades plus of usable vision. That’s 20-25 years minimum before needing to move from ASL to tactile sign. It is highly likely, therefore, that such a child born today will never lose his or her vision. There are no guarantees, of course, but doesn’t that at least make ASL a management option worth discussing?

Parents are Smart
This one trumps all the rest. Parents are not dummies. They, more than any of us, want what is best for their child. Given all information on all options, engaged parents will invariably make the right decision for their child. Let me repeat that. Engaged parents will always make the best decision for their child. Give them all the information and trust them to do the right thing.

The Elephant in the Room
Here is the most important reason for putting ASL on the table as a management option: It’s already there. When parents learn their child is deaf, they immediately think about sign language. It has to be discussed as an option for just that reason.

The point of these past two posts boils down to this: I hear strong opinions from all interested parties on ASL and Usher syndrome, from parents to physicians to researchers. All want to influence the choices of parents. But the best way to influence the thinking of a family is to put all options on the table because parents will tune out anyone who they suspect is holding back information. Remember, parents are smart.

To truly influence the choices of parents requires the sharing of all information on every possible option. So if you do have a strong opinion on the matter of signing and Usher, whether you are a doctor or simply another parent, by all means voice your opinion on it. But if you really want to influence them, tell them where they might find a counter argument. Then trust them. They will make the right decision for their child.

Monday, June 8, 2009

To Sign or Not To Sign Part 1: Total Communication

By Mark Dunning

(NOTE: We’ll get back to a review of the May 12th Conference, but these next couple of posts are needed for context)

Sorry for the long break between posts. I have a good excuse in the context of this blog: we’ve been away visiting an Usher specialist. To sign or not to sign, that is the question today, and it’s a big one when we’re talking about Usher syndrome. It’s big enough that I spent nearly two weeks trying to find a way to express my opinion on the subject that wouldn’t offend, well, pretty much everyone. Nothing is more polarizing in the Usher community or the Deaf community as a whole. Oh, and as always, what follows is solely my opinion on the matter and it is one that I know differs from many.

The technology today (cochlear implants, digital hearing aids, etc) can give a child with hearing loss better access to sound and spoken language than at any point in history. However, today’s technology does not cure hearing loss. These children do not hear like a hearing person and they still need lots of support to succeed. But for many, it is a cure for spoken language acquisition. A child born profoundly deaf that receives a cochlear implant and the proper supports can learn to speak and understand spoken language on a par with his or her peers. This was not the case historically.

This technology combined with the vision concerns associated with Usher syndrome leads many to feel that sign language should be discouraged as a management option. I disagree for a number of reasons, but before I explain, understand that sign language can be used as a management option in a couple of different ways.

First, it can be used as part of a total communication approach to language development. In other words, it’s used in conjunction with spoken language with the intention of assisting in the acquisition of spoken language. A remedial set of signs is used to supplement spoken language until a child is able to use spoken language as his or her sole means of communication. It’s like training wheels for spoken language.

Sign language can also be used as the primary means of communication. We’re talking American Sign Language (ASL) in this case. This is the choice of manual communication instead of spoken language, not in support of spoken language. ASL is a full on language of it’s own, no different from Spanish and Italian and every bit as beautiful.

I am a big supporter of the total communication approach for children with Usher syndrome. I’ll explain why in a moment. I am less a supporter of ASL for kids with Usher for the obvious reason that their sight is at risk. However, I am not in the camp that believes it should not even be discussed as a management option. It should be. I’ll get in to the ASL issue in my next post, but first here are the reasons why I believe total communication should be encouraged as a management option for children with Usher.

TOTAL COMMUNICATION

Sign Language Helps with Spoken Language Acquisition.
This is a controversial way to start the argument for sign language. There are those that believe that sign language actually hinders the acquisition of spoken language. I respectfully disagree. In many cases even hearing children are able to sign before they develop the ability to speak. For children with hearing loss, it takes even longer to develop spoken language.

Most kids with Usher type 1 have severe to profound hearing loss. To acquire spoken language in these cases usually requires cochlear implants. Cochlear implants, as a general rule, are not done before 12 months of age. (The reasons are physiological. The skull is simply not developed enough in most cases.) Further, it takes another 12-18 months for a newly implanted child to adjust to this new thing called sound pouring into his or her brain. They simply can’t decipher what is a word and what is, say, a dog’s bark or the wind in the trees.

That means an implanted child will not be communicating effectively with spoken language until he or she is at least two years old. For children with mild to moderate hearing loss, the delay in acquiring spoken language can be shorter, but it is usually still there.

However, most kids in that situation can communicate through sign language at a pace that is on par with the spoken language development in a hearing kid. So sign language can bridge that gap. Kids can learn to sign dog and milk and mommy and hurt and happy while they are learning to understand sound.

This helps them acquire spoken language later because it gives them a reference. You don’t need a dog in the room or book of dogs to teach them the English word dog. They already know the sign. It’s like learning Italian for the first time. It helps if you can ask ‘how do you say dog in Italian?’ rather than having to present a dog and point at it.

Sign Language Can Help Address Behavior Issues
It is not uncommon for hearing children to be speaking a limited vocabulary as early as ten months of age. But as we just said, children with hearing loss often don’t acquire spoken language until they are 24 months or older. So what happens to the child with hearing loss that has the intellect to communicate but not the means?

Often the result is that the child becomes frustrated and that frustration can lead to behavioral issues. The child wants a glass of water but doesn’t know how to ask. He points and points and points, but mom just can’t understand what he wants. Finally the child gets frustrated and starts screaming or throwing things or lashing out. It’s typical behavior for a young child, but it happens more frequently in a child with limited communication skills.

Sign language can help mitigate that by giving a child the ability to communicate at a young age. Allowing a child to communicate at a level commensurate with his or her intellectual development can help eliminate that frustration and the accompanying behavioral issues.

Sign Language Gives Parents Confidence and Hope
When a child is born with hearing loss, parents are panicked. Most have never experienced deafness in their family. They don’t know how to communicate with their child. They don’t know how to soothe their child. They feel like failures. All their lives they’ve seen children being reared and somehow none of it seems to apply any longer. They lose confidence and they lose hope. Again, even with today’s technology, it takes longer for children with hearing loss to acquire spoken language and every waiting second is agonizing for the parents.

My daughter has cochlear implants and speaks English. We used sign language with her until she was implanted. She rarely signs any longer, but that day when 8 month old Bella signed ‘Daddy’ a whole herd of elephants jumped off my back. We had been signing and signing and talking and talking, but we just couldn’t tell if anything was getting through. Suddenly, I knew it was. I was going to be able to tell her I loved her and she was going to be able to tell me she loved me, too. But more importantly, all those hours of speech therapy and signing and doctors appointments were working. I could see that finally. It wasn’t futile. There was hope. I could do this.

Sign Language Helps in Situations Where Current Technology is Weak
The technology today has weaknesses. No one hears well in a crowded restaurant or grade school auditorium, but it is especially difficult for kids with hearing loss. I always think of it as watching a home movie of a wedding. You know how you can hear Uncle Bob’s voice right next to the camera but the people on the other side of the table seem muffled and distant? That’s what it’s like for a person with hearing loss in a crowded room. My daughter usually can decipher a conversation and she’s great at reading lips. But we still get stuck sometimes where she just can’t figure out what we are saying. It helps to be able to throw in a sign or two to help her get the context of the conversation.

The technology is also 1) expensive and 2) fragile which makes us all 3) freak out when the kids are near the pool or on the beach. So we take them off and put them in a Ziploc bag or in their case to protect them while the kids splash around. Unfortunately, pools and the beach are dangerous areas where you need to be able to communicate with your child. Being able to sign ‘stop’ and ‘help’ and ‘look’ and any number of other safety related terms can be vital in such situations. It’s still tough to get their attention since you can’t scream and get them to look, but you can at least get your point across quickly when you do. That can be the difference between and accident and a near accident.

Finally, few kids sleep with their hearing aids or implants on. That means they take them off just before they go to bed. I can’t speak for everyone, but in my house that’s exactly the point where my daughter starts misbehaving. She’s tired but she doesn’t want to go to bed. She needs to go the bathroom or find the dog or get a drink or read a book or just do one more thing, Daddy, just one more thing. Rather than have her constantly putting her implant back on, we just sign with her. It’s the reason I know how to ‘yell’ in sign better tan to ‘speak’ in sign, but it really helps.

Next up: Should ASL still be discussed as an option for Usher kids.