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Transcript- NCDB Early Usher Syndrome Webinar by hxe11278


									                   Transcript- NCDB Early Usher Syndrome Webinar
                                   December 2008
Link to Archived Webinar:

Please standby for real time caption text.

Thank you.

Just a reminder, today's conference is being recorded.

 I want to welcome everyone who has arrived. My name is Jon and I am with the
National Consortium on Deaf-Blindness and I want to thank Tracy who is the director of
the deaf-blind project in the New England area. She is going to join us. I appreciate
your help keeping the numbers down. A lot of people said that they wanted to be a
part of this and my concern is that we would not be able to allow equal access if we
did not do this. So Tracy will introduce our speakers this morning. And if you can, we
will save our questions until the end of the presentation. If you would, please, submit
your questions in the chat pod to the left of your screen. Type and send it either to
the presenters, you can send it to individual presenters or to anyone. We will take your
questions and get those questions answered. So thanks for joining. Tracy, thank you
for your help and I will let you take over.

First of all, I want to thank everyone for taking the time to log on today. I was really
fortunate last spring to connect with the presenters that you will hear today around
early usher Information and the latest research. Heidi Rehm, Mark, Terrell, from
children's hospital and I have through them learned a tremendous amount of
information and felt that it was important to get to you folks as soon as possible.
Because there really is some wonderful, wonderful exciting work being done in this
field and it really is pretty much connected to the work that we do with children,
families, and service providers. So that is sort of my major goal to connect with you
and this information today. I also want to thank Jon for holding my hand through this
process. I guess the first piece to address is the wonderful research that has gone on
around early usher and I would like to introduce first Heidi Rehm from Children's
hospital. And I am sure that she can give you more detail on her day-to-day
responsibilities. Her focus and her work and, I would like to go ahead and let you take
it away.

Thank you.

Can everyone hear me?

So my training is really in laboratory Genetics in terms of my research and I currently
runs a clinical lab that does genetic testing for usher syndrome. So I have ongoing
research collaboration with clinicians and basic scientists to study the genes and study
the disease in patients. The main collaboration's that I have are with an oncologist at
Children's Hospital named Margara. So today I am going to try to give you an overview
of usher syndrome. And obviously because of my perspective it will be focused on the
genetic aspects of usher syndrome. And really our goal at this point is to better
understand usher syndrome, particularly the early stages and how can we better
diagnose it and understand the early processes and what is going on. Differentiate
different genetic forms of usher syndrome with the eventual goal of being able to treat
usher syndrome. And before we get there we have to really understand the disease
better. So with that, let me start out with these slides. So what is Usher syndrome? It
has three critical areas that involves largely congenital hearing loss. The children are
born with hearing loss and they develop a visual problems called retinitis pigmentosa
and may not have vestibular problems -- and they may or may not have the similar
problems and we will talk about that more in detail later. Vision is one of the great
challenges because it is a progressive -- vision loss occurs and that is one of the great
challenges because the retina not gradually degenerated. It may be a night vision
loss with there is low light and they also lose their vision and the tunnel vision that

There are different types of Usher syndromes and for many years Usher syndrome has
been classified in three different types. And it that is called type one, type two, and
type three. And the are differentiated based upon mainly how severe the hearing loss
is and whether there are vestibular problems. In type one it is typically profound and
they have balanced problems and a delay in gaining motor skills, for example, a delay
in walking is one of the first things that people might notice to indicate a vestibular
problem. The retinitis pigmentosa in type four is usually onset before puberty.

In type two, the hearing loss is less severe and may have a slope to it. So it can
progress over time and become more and more severe. Physically the vestibular system
is normal and there is not a delay in walking or other aspects of vestibular problems
and the retinitis pigmentosa is usually on set a little later. And then type three which
is much more rare is not all that consistent of the clinical category. The hearing loss
may not be present at birth and it may onset later and gradually progress. The
balance problems may not be present at birth and progress over time and the retinitis
pigmentosa can be on set at various points.

If we look at the genes that are involved in causing Usher syndrome, we break them
into types just like the critical types. I have separated them in a table here. So there
are at least seven genes that cause -- six genes that cause Usher syndrome type one.
There are six others that how is aging and Usher syndrome. -- house a gene in Usher
syndrome. You can see all of these listed here. These are just different genes that
work and our body and they typically work in that year's -- in the ears and eyes. And
this shows how many cases of people, how many have that in the A gene, so some of
these are more prominent and some of them are less common. The same story with
Usher syndrome type two. There are three different genes involved this causes the
majority of cases, 80% and there are others involved. And for Ush3, there is one gene
that causes all cases of Usher type three. So those are the genes involved. So perhaps
a little bit more detail on the vision loss and hearing loss with Usher. I said that it was
congenital, bilateral and profound. I said that there was a delayed walking and they
also meet be characterized as clumsy. They may pump into things. They may not be
good at sports. They make it disoriented under water and there are different things
that parents may notice and they aren't going to say, my child has a vestibular
problem, they would say, yeah, I guess he is clumsy. Sometimes it's not easy to get at
the vestibular question. And as I talked about later, there is some effort to develop
better clinical tests to diagnose vestibular function rather than relying on these
various objective types of indications. I mentioned Usher type three and the less
severe hearing loss and the fact that it can be progress. So in the USH2A is a fairly
rapid gene compared to other genes. It has been noted to me that some progression in
hearing loss can be a subjective thing that may be related to initial decline. So as
they began losing their vision, and become more reliant on hearing they may be more
aware of their hearing loss. So the we feel like they are progressing but it's somewhat
related to their visual decline. So they should track the hearing through biological tests
that are more measures. And then type three can have very rapid progressive hearing
loss. It's typically not present at birth and developed after speech on set. And it can
be rapidly progressive to complete loss of hearing. And this has vestibular

We look at the classic eye features. We talked about the vision narrowing over time.
Some can maintain a degree of vision for life and others that go completely blind. I
am not an expert in that area., and these are just some of the things for type three,
night blindness occurs during puberty with vision loss in the late teens or early
adulthood. So what are the things that we have begun to appreciate over time? Now
that we can attribute to molecular testing, meaning instead of the patient coming in
with a diagnosis of Usher type one, and that is as far as it goes, we can now diagnose
them for a molecular testing. A genetic test, in other words. And in doing so we have
begun to realize that all of those patients in the type one category may or may not
have the classic type one gene mutation. They may come in with the type two
diagnosis and they may have a mutation in a gene for an usher type one. So it is a
little bit more agreeable than what was appreciated now that we have the ability to
test these genes and there are several Type I genes that can show milder
presentations. So instead of profile and hearing loss they may have moderate or
severe hearing loss and some may have a normal vestibular responses and in some
cases the retinitis pigmentosa can onset later more like a Usher Type II concept.
There are cases that are quite mild. And, in fact, there are several Usher genes in
which they only relate to hearing loss and they are what we call -- they change amino
acids but they don't have a major impact. So one of the -- it actually brings up a
challenge that I anticipate as we do more and more testing for children before the
onset of eye disease to figure out what type of hearing loss that they have. We will
find patients that have hearing loss. There is no evidence of eye disease. They may
have a broad spectrum of testing that caused both hearing loss and Usher syndrome.
We may find mutations in genes that we know can cause Usher syndrome and can
cause hearing loss and not be able to tell the patient whether or not they have
mutations that will be to Usher syndrome or not. And I anticipate that to be a
challenge that we are going to encounter in the last couple of years as we launch all of
these tests for Usher syndrome. And again the same paradigm in terms of the Usher
Type II we have mild vestibular involvement which is not typical agent also cases that
have a theory mild hearing loss or no hearing loss. There is evidence that buff
USH2A cousins retinitis pigmentosa without hearing loss.

So that adds to the complexity.

So now we have the nonsyndromic form. There are two papers out there that claim
that there is this type. But one of those papers retracted because they went on later
to the developer and the deceased and the other was never followed up so we feel
that most children who have this mutation will go on to develop Usher syndrome. And,
on the other hand, the genes that we have not launched, all of these three are
associated with a nonsyndromic form of disease. The problem is we don't always know
what is a mild irritation until they live out their entire life and then we say, that was
a mild nutation because they did not develop retinitis pigmentosa. And again in the
USH2 gene, USH2A there is retinitis pigmentosa by itself without hearing loss and that
may represent as many as 12% of the cases, and then USH2D is also associated with
nonsyndromic form hearing loss. So just to emphasize the spectrum of different
diseases that can occur in these genes.

So if a look at inheritance. All pre form show autosomal recessive inheritance, so
there is no gender linkage in terms of this disease. It basically means that those copies
of the genes must be mutated or have a mutation to lead to a disease. So if we look
at this family shown here, we all have two copies of every gene. So Dad has two
copies of this particular chromosome, and if one has a mutation and one does not.,
that is the red dot. The mom has the same chromosome in this case she has one with a
mutation and one without. They are carriers. They don't have the disease. The air
carrying a single mutation, when they get together and have children there is a 25%
chance for each of their pregnancies, each of their children to the appellate disease.
And that is related to the likelihood that they happen to each have this chromosome
with the mutation shown here. There is a 50% chance that the child will be a carrier
because the dad passed the mutation or because Mom did and Dad didn't. Then there
is a 25% chance that the child will have no mutations and it will never pass them on
to their own children. So this paradigm gives us the number that there is a 25% chance
for a couple to have a child with Usher syndrome, and that chance is for each
pregnancy. Every time they have a child, and these are just like when you flip a coin.
So you could have a family with three kids with Usher syndrome. It is just by chance
and you could also end up with head five times. But you have to remember that every
pregnancy has a chance of developing Usher syndrome. And as I mentioned, a carrier
just has one copy of the mutation but does not develop the disease.

So if we move on to genetic testing for Usher syndrome. There are different
approaches and the most conservative approach is to test those children with no
abnormalities -- with retinal abnormalities, maybe they noticed pigment changes or
they have a history of Usher syndrome. Something to indicate that they're likely to be
indicating the amount developing Usher syndrome. So that is most of the testing that
we do today. If they have some reason to suspect Usher syndrome pick a less
constructive approach is to focus on those children that have a higher suspicion
before Usher syndrome. Even though they don't have the eye yet If they have profound
congenital hearing loss which is typical of Usher Type I they may have delayed
walking or some other vestibular dysfunction. There is a test that can be done called
it VEMP test that looks at myogenic potential, and there is a natural response that can
be detected. If they don't have the response it may indicate the absence of vestibular
dysfunction. So there is some data that suggest that a child with profound congenital
hearing loss and vestibular abnormality for maladies has a 50% chance of developing
Usher syndrome. And if were looking at all kids with hearing loss, it is closer to five
to 10%. So that gives you added suspicion for Usher syndrome when you see a
profound loss or delay in walking.

And then the screen approach is to take all kids with hearing loss and screen them for
Usher syndrome to detect all of these early. and that would catch the Usher Type II
which would not be caught by the less conservative approach because they may not
have vestibular problems. Obviously there would be some increased consideration if
they have a sibling with hearing loss that says that it's likely genetic in origin. Also
because it is probably not a good idea to consider which sign language, you might want
to consider screening for Usher if they have Towson's and language for their method of
hearing loss. And if they have a clear and plant, it is unlikely to change their
management. But if they choose to raise them with sign language as the mode of
communication, that can be impacted by a bitter diagnosis of Usher syndrome. So that
may be an increased desire to order molecular Usher testing.

This is listing of the availability of testing for these genes. The three with yes, these
are currently available and we will be launching the best of them this winter. And then
what we are developing right now is something called the otochip. It covers all nine
genes that are currently known and also ones that are -- they will pick up most cases
of Usher syndrome regardless of the clinical type and we will be launching that in the
spring of 2009. And again, I alluded to this earlier, the biggest challenge that we
anticipate is people getting this test for the purpose of data and then been surprised
at the Usher syndrome or a the genes that we may not be able to predict. Whether
they will develop Usher syndrome. At the same time this will increase the ability to
diagnose hearing loss and I think that will have a very positive benefit as well despite
the challenges that we are dealing with. And it will also in the future to allow us to be
able to start thinking about early treatment. And with that, right now there aren't a
whole lot of treatments for Usher syndrome. There are people who recommend
supplementation of vitamin A based on a study that some patients with Usher
syndrome to lead their vision loss because of vitamin A supplementation. There is
some controversy as to whether this is true. But there are a number of conditions to
are recommending this with the caveat that you need to maintain doses that don't
lead to liver toxicity. So that is a downside. You have to make sure that you don't over
supplement. There are some early studies on gene therapy. Some of them are being
done in animal models and David Williams has done this in mice and showed some
improvement representative no phenotype -- retinal phenotype. And this session on
success and very recently there was a human clinical trial that was focusing on LCA
but there is some work toward retinitis pigmentosa as well. So I do anticipate in the
future that eye disease will be treated. But it still is a ways away. There are a lot of
safety studies to be done. But the better that we are able to diagnose Usher syndrome
early and understand the progression and get the treatments that are available started
early, I think the better outcome than the patients will have.

So how do we approach the early diagnosis? One of the methods is different types of
exams and there's a lot of discussions about what the best eye exam will detect this
early and which can be effectively used by all ophthalmologist's or across the country.
Some centers are much better experts than others, so finding a universal test is not as
simple as it sounds. And some of these tests do not show evidence of disease for
example ERG is one of those tests. I mentioned this test, and there are a variety of
different methods. Some of them aren't all that pleasant and not a lot of centers to
them. So these methods have their challenges as well. And they certainly aren't
diagnostic for Usher syndrome. They just freeze your suspicion for Usher if you
diagnosed of vestibular problem.

This is the paper that I referred to that 16% had vestibular responses and 50% of them
went on to have eye disease indicative of Usher syndrome. So that is one study that
emphasizes an increased suspicion when you see vestibular problems in a deaf child.
In certain be near and dear to my heart is genetic testing. It is not a dependent and I
mentioned the caveat of being able to distinguish for sure whether the patient will go
on to develop Usher syndrome.

That is where I will stop and hand over to Mark.

Thanks, this is Tracy. I want to thank you for providing details on a pretty involved
topic for us and breaking it down for us. And I would like to introduce Mark. Again, I
have been fortunate to work with Mark around this early usher and he is the father of a
child with Usher syndrome and he devotes the extraordinary amount of time and
energy to looking at this whole issue around research and bringing professionals and
parents together. So thanks so much, Mark.

Thanks, Tracy. I hope that everybody can hear me okay.

I think you're doing fine, Mark.

Okay, thank you.

Sorry -- a for that comment in the background.

As Tracy said I am the father of a child with Usher syndrome and I am not a
psychologist or a doctor. But I am president of an organization called the decibels
foundation. And this foundation is devoted to helping parents of children with hearing
loss in that difficult time right after they get the diagnosis in those first three years of
life. So I have personal experience in dealing with the diagnosis Usher syndrome and I
also have dealt with a number of parents now who have gone through similar stories
and diagnosis. When I say that there is a typical response, you know, I have not done
any studies on this but I have quite exotic experience around this stuff. And what I
found from parents is when they get the diagnosis. I have been fortunate enough to
have both an early diagnosis of hearing loss for my daughter through the newborn
hearing screening and then we determined that she had Usher syndrome when she was
eight years old. That was a leader diagnosis. I have some experience with both of
those. So, what I see from parents is that they fall into one or two buckets. Either
they get very depressed initially or they go right into denial. And I was a depression. I
spent the first two months or so after the diagnosis coming home from work every
day. And it was during the winter so it was Turcotte said. I would come home go
straight to the closet and grab a box of ho-hos or ringdings and try to keep myself
into oblivion because what was the purpose of taking care of myself? I tried to stay
healthy for my kids and here I was in a situation with my daughter worked there was
nothing that I could do for her. And I heard people see when you get this type of
diagnoses in similar to have been -- or finding out that your child has died. I wouldn't
say it's similar to that, it's exactly like that. You have that same sense of hopelessness
and believe that there's nothing that you can do to change the outcome. Especially
when you talk about Usher syndrome when you are told that there is no cure for what
is going to happen. So for me, I just had a hard time being able to function after
getting the diagnosis. The reason that we care about this is because the response of
the parents can have a direct effect on the care of the child. It's one thing for the
parent to them accounted for two months and get up and get active. But it's different
if they lay on the couch for the next two years. And if they take the approach, why
would I bother having my child getting a test when there's no hope. Why would I put
her through that much pain and suffering? So when parents start to get the depression
affect the care of the children and that is something that we need to be concerned
about. Denial is the other type of response that I see and that was my wife. My wife's
response to any of these difficult diagnosis’s had been to smile and nod and say thank
you very much and leave and go shopping. You know, and that is about all she does in
terms of response to this. I liken her to a nuclear power plant. When she starts to, you
know, when the pressure starts to rise, she shuts down and those of steam and goes
shopping. And what is her response to it. that is her response to AIDS and it may be
better than a normal response to this because she is still very functional when she is in
her state of denial. She just does what ever the Dr. Says. So the Dr. Says, go have a
ERG, she says okay, and then I will go shopping. Or she says, have the vestibular test
done, she says, okay, I happen to get the tests done and then go shopping. She is --
she doesn't ever is addressed of her and she deals with it that way. And what we get
concerned with is if they stop getting the treatment for their kids or stop having the
test for their kids because they don't believe that the diagnosis is accurate. So if they
are seeing things like, why would I bother to have a ERG done? She is perfectly fine,
there is nothing wrong with her. Then you have serious problems with the actual care
of the children. I have added another thing to this list, too, is something that I notice
with Usher parents. After they get their feedback on the ground, they tend to get a
very desperate in beating to do something to address the issues for their children. in
meeting it to address the issues to do something for their children and let my
daughter traveling and see the things that she would not be able to see. So I took an
unpaid leave and to occur to Washington to see -- and I took her to Washington D.C.
to see all the monuments and I have heard that for many parents. And that is a good
response. There is nothing wrong with that type of approach. Will we get concerned
for the care of the children is when that desperation turned into desperation on the
clinical sides. So if they find out that vitamin A might help their child and the are
pumping them with vitamin A, you could get toxicity and they could have problems
with the Lipper and you could cause serious damage to your child. I had one particular
parent tell me that she was calling to talk to the FDA and get them to waive the
normal process for allowing her to help her child use CMTS, which is the implant to
help delayed the vision loss with retinitis pigmentosa. And they are not ready for prime
time and they are not ready for a small child. But on her desperation she was going to
throw all caution to the wind to help something for her kid. So that is where we get
concerned with that type of an emotional response. And Greg Heidi said, we have the
ability now to diagnose people with Usher syndrome much earlier. Historically we have
been only able to diagnose -- the diagnosis of Usher syndrome has come from
ophthalmologist with a pared notice that the child is not seeing properly in the dark
and then they take the child in. The older child, and there would have the child tested
and the wicked the diagnosis of Usher syndrome. Nowadays -- and they would give
the diagnosis of Usher syndrome. Nowadays with the newborn hearing screening we
have the ability to identify kids close to birth as having Usher syndrome. This is great
in a of ways from the clinical perspective because the new technologies for hearing
loss like implants and hearing aids allow children a better option for language
acquisition and we know that children acquired language in the first three to five
years of life. So you want to identify them and pump them full of language. It may be
Simon which prison and as soon as they know that they need help in learning to
communicate the better the chances are that the child will succeed. So that is a good
thing about early diagnosis. Also as Heidi spoke about earlier there is a lot of things
that may prevent the degradation of vision. And those will be better served if we
provide them at a younger age. Simple as something as simple as putting sunglasses on
the child's rate slowed the degradation of the vision and the better of the children will
be. So that is the good side of things. The bad side is that his store clique these
diagnoseses came at the behest of the parents -- the bad side is that these diagnosis
came at the behest of the parents. And with newborn hearing screening this is a
completely unexpected. They go into having normal child, they go in expecting that
the new board that their holding in their arms could be Monet or Mozart and they get
this diagnosis that tells them that they won't be. And the problem with newborns is,
parents with newborns that get this diagnosis, is that a child as an infant is just an
empty vessel. They are nothing but potential as an infant. They can't sit up or smile or
laugh. They don't have a personality but they are brimming with this potential. All of
these things that they could possibly be. When a parent gets this diagnosis, there are
all this time limitations run this trial. Not only does the child do anything that they
will be able to do as an adult and that all this and have this limitation. And that will
lead to problems with the parents because that throws them into the depression or
denial. And if it's an extended period it could have an effect on whether or not the
interventions and the ability to acquire language would get going did the whole point
of early diagnosis is to get after deep language acquisition and be able to help at a
young age. You might have the opposite effect with parents by giving them this
dramatic diagnosis that Box them off their feet and makes it so that they don't act on
any of them. And that is one of the things that the Decibels Foundation has been good
at. We focus on those parents as soon as they get the diagnosis and helps them to do
with the diagnosis and of is akin get to the language acquisition.

Later diagnosis, as I said has it good points and bad points. The obvious bad points is
that you miss out on those early interventions. But they could side is that it
legitimizes the parents' fears. And you are watching your tiled and he said, there has
to be something wrong, and know that she's having hearing loss, why did she have
trouble in the dark or walking through the woods where we go camping? Why did she
have balance problems? It does not make sense that she has the separate issues. As a
parent you believe you are in hypochondriac after you build a specific part of the
diagnosis. So it's almost a relief to give the diagnosis. At least I know what is wrong
and that there is a particular problem, and this is what it is. The second thing about a
liter diagnosis that is better it is that a child has been established personality. My
daughter was imparted to speak at MIT. They wanted to meet a child with Usher
syndrome at this particular class. So Bella, my daughter, will of two or three pages
about who she was so that she could read it and describe it to the class. She talked
about how she likes Corsicas and she likes dancing -- she likes horses dances and
talks about who makes okay one who she is did and never did to talk about that she is
deaf or that she has Usher syndrome. And I said, they kind of want to hear about this.
But the point is, what makes Bella Bella at this point of time is a long list of things. And
being deaf and having Usher syndrome is one item. So getting a diagnosis does not
define who Bella is. The bad part is is now is threatening with that child has become.
You are no longer damaging the parents' dreams, you are damaging this child's
dreams. And as a parent that can elicit an even more strong response because now you
are a threat Nehemiah child. You aren't just for adding me, you are going after my
kid. So you get even more depression from the parents. So because the only do you
feel that my child has this theory difficult thing but there is nothing that I can do for
her. And you felt guilty I'm her father, supposed to be able to help her and I don't
have anything that I can get prepared the other bad part about later diagnosis is that
the child often gets it. And not only are you doing with their own emotions you have
to do with your child's emotions around this thing. And it becomes very easy to say, I
know you don't mind to go to the doctor, I don't want to drag you kicking and
screaming and I don't want to take you either, so we aren't going. And then you run the
risk that the trend won't get the proper care.

So what does that mean, no diagnosis is the approach to this? And I emphatically say
no. That is not the case did I say the earlier that we can diagnose this, the better off
that the family is. But this is a legitimate concern. I have had several physicians who
have a long history of dealing with Usher syndrome who said to me that they're
considering not giving this diagnosis to parents because right now there is nothing that
they can do to them and it is so traumatic to the family that a pill that the bill and
they're doing more damage. that they feel that they're doing more damage. But what I
encourage physicians to do is to communicate that diagnosis in a specific way. These
are rules that I share with physicians on how to communicate this particular diagnosis.
The first big is that children do not feel medical tests. When my daughter had her
newborn hearing screen I was told that my daughter failed. She was two days old and
she has not even made a poop in her pants yet, and she is already a failure pretty they
do not fail the test. It may indicate that she should have a bottle of procedures done
but they do not build these tests. The other thing is don't say, don't worry about it.
And we heard this, they say, don't worry about it, I know she failed the test but it
invited kids build a test but it is no problem whatsoever. But if you say, don't worry,
the parents will completely ignore you end to it any way or they will believe you and
when it comes back giving bad news, they will say you told me not to worry. So don't
say, don't worry to parents. And parents need to know when to expect the test results
from certain tests because it berries. Blood tests, you can wait a month. But if there
have been a test of the hearing for the child to get their test rate then. So I thought
it was like a blood test. I did not go pick my wife went by herself and got the news by
herself that my daughter is. It's important to know right then and there that this is
the case. And I also encourage physicians to include the parents in the diagnosis. By
that, I mean, if the inquiry to have a ABR done, show them gave good one, a bad one,
and then their child's. And ask them what do you think? Some parents already
suspected so there were making the decision as to their child. And with early diagnosis
they don't actual believe there is a problem with their child. So this makes their
decision they can make the decision whether to how has this particular issue.

When it comes to things like blood test also encourage them to give the results in
person. Don't call them over the phone to give this information. And I tell them to
schedule the time in the advance. Because if you are calling them up to say, I got the
results back, they will all askew right then and there what are the results. In did you
say, I don't want to tell you, please, come in, they suspect it's bad news. The NDP
said, no, it good news, then they know any way. So you could say, a way to come back
and a month from Mel and schedule a time -- you can say, come back in and month
from now and schedule a time. And as soon as you hear that your child has Usher
syndrome it like a shot of Novocain. You go numb. Any other thing that comes out
goes in one ear and out the other. So this is not the time to discuss protein chain with
the parents. There are not even going to get it. So after the positions have that initial
meeting with the parents, I encourage them to give them their cards and say, call me
if you have anymore questions or send an e-mail and schedule a future appointments.
Incurred them to ask questions that they may have passed before because they don't
understand. You don't want them to as the question once, and maybe they did not
understand the response. You want them to know and understand specifically what is

The most important thing and everybody can contribute to this that there needs to be
hope in the diagnosis. That more than anything helps them to address the emotional
issues around and give them a engaged. If you tell them that the initial delivery of the
diagnosis that is some form of Usher syndrome mean that your child is deaf and will be
blind and there is no cure. That diagnosis knocks the parents over and they will be
depressed and go into denial and there won't be engaged. There needs to be some
kind of hope in that diagnosis. The truth is that statement, and if you go on the
Internet you will find that in 15 different places, is that the archer. What is deaf parks
might daughter understand sign language but it can't hear a freight train and she uses
closed captioning on the television and she also listens to in iPods, speaks english,
sings, and dance, so what is deaf? To them it means no sound and no hope but that is
not what it means these days. In the same thing is true with blindness. My daughter
could use the assistance of a cane at night because she cannot see anything. But
during the day she can play catch and be fine. So what is planned? To a parent who is
asking this diagnosis, it to them it means darkness and nothing. And that is not the
truth behind the speed and as Heidi talked about, we don't know specifically -- and as
Heidi talked about we don't know specifically what this means. There is not a typical
speed by person. We find even more and more with people with the same genetic
mutations have different phenotypes. They showed their symptoms differently. There
are a very clear facts about Usher syndrome. And I encourage everybody to share these
talks with parents on a regular basis. Whenever they talk to parents about Usher
syndrome. And I always ask everybody to write this down. Take out your pencil and
paper and be assured that if you deal with any parents with Usher syndrome, these are
the most important projects. Does everybody got it? These are the facts. Fact number
one, the majority of people with Usher syndrome who want to go to college go to
college. The majority of people with Usher syndrome who want to get married get
married. You can see where this is going. The majority of people with Usher syndrome
will want to have children have children. And when I gave this talk at Children's
Hospital in Boston there was a gentleman with a grandfather with Usher syndrome and
he pulled me over and said, you have to make sure you add this in. So this is that
being the majority of people with Usher syndrome who want to have challenging
careers have challenging careers. The truth about Usher syndrome and the diagnosis of
Usher syndrome is that the majority of people with Usher syndrome bit happy
productive and fulfilling lives. But that is not what you are told as a parent when you
get the diagnosis. When you search on the Web you get that statement. Your child is
and eventually will be blind and there is no cure. One of the things we are involved
with is a coalition for Usher syndrome research and you can access the web site at period end on there is the usual information about Usher syndrome
and we have also tried to ensure that there is hope on that site as well. So we're
hoping that parents get directed to this website to fall to find out about Usher
syndrome that there is no cure cancer. And that they see these excesses that people
have on their. We have people in their 40's who have climbed Mount Kilimanjaro and
have won gold medals in speed skating. We have a director of the program in northern
Vermont. We have a story of a young lady who speaks two languages and is studying in
Europe who has Usher syndrome. So there is a lot of hope in this and ends Heidi
referred to this there is hope in the diagnosis and the treatments coming along as
well. That is what I want to make sure it gets across to the parents. And that parents.
And that is all I have.

Great, Mark. Thank you very much. I am sure that you will have a lot of people
contacting you addressing the family issues and support. So thank you very much. I
would now like to introduce Terrell pretty key is the director in Boston and he works
with many children with Usher syndrome and their families.

Good afternoon.

Heidi and Mark both the referenced early opportunities that we have to meet
together. This really occurred originally because there was a large meeting at Boys
town in Nebraska and a meeting in Florida of ophthalmologists. The information from
both of those meetings were shared with several positions and basic science type
researchers into the genetics of Usher syndrome. So in May of 2007, Heidi, Dr.
Margaret we're able to present to the Children's Hospital all that they were able to
learn. It was a wonderful opportunity to get up to speed with cutting edge
informations. At the end of that seminar it was fairly clear that there was considerable
interest in taking the next step. Okay, if you can identify and the potential for this
syndrome at a much earlier age, what are you going to do with that information? And
how do you connect Resources and Services or around the community on behalf of
parents and their children? So with that in test there was a second seminar that was
held in May of 2008. And Mark was one of the speakers at that seminar. And I think
that both of those earlier seminars led to today's opportunity to share this information
on a wider basis. It also led to efforts that are collaborations among various
organizations and service providers both in the medical fields and in the education and
intervention field to draft some grants. Because there is not much that you can do
with a little money -- without a little money to support that. So we are hoping to be
able to land successful proposals research initiatives are under way. The Usher
coalition was mentored which combines sides and lab research with clinical research.
And today is a webinar is certainly an indication of interagency cooperation. Which is
very exciting to be able to work with and what all of us are into doing.

But it's not just professionals. It really can't be. Parents and families of children
affected with Usher syndrome are key to making the difference if there is going to be a
difference to be made from an earlier identification of the syndrome. It's crucial for
professionals to be informed by the parents and the care providers. And you have
heard will stem from heard will stem from Mark. And which I must say we really
regard so carefully. Because ultimately, those who are professionals who are dedicated
to serving young children must respond to family issues. Their questions, concerns,
and feedback. It and parents are truly informed.

What are the key issues that affect families and how can we get at those issues? Mark
has talked about some very important ones. Keeping the hope alive and how a
diagnosis is delivered. And involving children in understanding the diagnosis and
dialogue about it so that they know how to incorporate all of this in their growing
lives. And that earlier diagnosis means the possibility of earlier intervention. And in
the case of. Loss means of assuring language acquisition and the opportunity to access
the main bridge so that it grows with the H level expectations. And certainly early
diagnosis from the medical point of view and making sure that families are connecting
with therapeutic indications.
How do we go about doing this? I'm hoping to get some feedback from today's webinar
about the most effective way of soliciting key issues from families. Is it getting
parents together and networking them, which has been described to me be web
based resources. Is it conducting surveys and offering family of Florence? And the
opportunity to learn the kind of the information that we have today -- and offering
family forums.

So what are the ways of identifying strategies to really get at these issues and really
deal with the key issues that are identified? Web base resources are wonderful. And
there have been some mention to mentions today of websites out there. Maybe they
could be beefed up or restructured or reformat didded so that the information is
accurate and keeping up the hope that was presented so eloquently. And there are
informational brochures that are currently available about Usher syndrome. But they
mostly address the issues as they used to express before the possibility of early
diagnosis was available. So if the effects of retinitis pigmentosa were not observed or
experienced until the early teens, most of the informational brochures that are
available today contain information about this later onset vision issues and don't
address what do we know about intervention with very young children. Dissemination
might come through the Web or printed brochures. But again dissemination comes
through training. And the other issue that came up in the seminars in 2007 and spring
2,000 feet were that it's obvious that there are agency policies. And I know that we are
speaking to people across the nation today and not just in all our state of
Massachusetts. But there are agency issues, for example, here in Massachusetts until
children have vision problems that interfere with daily living, they do not want to
know with these children are, yet the commission for the deaf will be carrying many of
these children on their caseloads and knowing the families. And probably could do
some interim agency agreements that would be much more positive for families and
the mustering of resources. So I'm hoping that we can begin or continue the dialogue
of Puerto Rico and here he and how do we reach out to parents and network -- of
where do we go from here and how do we reach out to parents and network and
muster resources so we deal effectively with children and their families when the
diagnosis of Usher syndrome for the potential of retinitis pigmentosa and the presence
of known hearing loss becomes available.

Handing it back to you, Tracy.

Thank you, Carol. I think the theme that she was mentioning as far as where do we go
from here is pretty much my mantra at this point as it relates to the deaf-blind
projects. And I think that here in our states we have worked really hard are around all
our deaf-blind census data in identifying people with Usher. And what you ever to
deposes so many questions around what is effective technical ways for younger
children and how do we provide this on multiple levels? And I am really feeling right
now we are in and chartered orders relative to delivery and how do we support
families with Usher, early intervention, and how should we give this information. And
to some extent for those in this field, some of this comes in waves. I know many of you
out there have been working and this field of Usher for a long time. Answer me this
new information -- and certainly this information causes us to pause in the open and
how can we vote at the spectrum on how we can reach out to families. And so much
experience in these deaf-blind projects have been working with families with kids who
are much older. I took the liberty of grabbing the federal deaf-blind information that
John put together in 2007 to give you a glimpse of the numbers. Out of 272 children
identified through the deaf-blind projects of having some type of Usher, this is how it
plays out. I would like to caution people if you look at any of the numbers price age
21 -- past age 21 there is a drop. And also after a bit of discussion, I think that is
obviously many of us do not submit data after age 21. I think the high points are much
more relevant for us to look at. Certainly when people look at the age level of
children diagnosed the numbers are very low. So it will be quite interesting to see as
the genetic testing becomes more available and we all learn professional and as
parents high as those numbers play out. And whether the deaf-blind project, and what
our role should be in this identification process. I think that, again, looking at the
potential role of our projects I think that I have been struck with the thought of how
best to connect to families and determined family needs as he Carol was machine. I
feel that for many of the families is shutting doors rather than opening them and I
feel that the federal deaf-blind projects are their link to a federal technical
assistance dollars. So I think that as a group and of field we need to look at that. I
also think that certainly our efforts here we are trying to do a better job of linking the
newborn screening of the identification and effective TA. We're still getting children
refer to us much greater than is the purpose of that is something that we are
struggling with. And finally, on this piece I would certainly hope that as a field and any
future connections that we make, I would really like to ring the bell tower we develop
some kind of protocol for developing TA looking at the child's age, the type of Usher
and the degree of century loss and communication, mobility, and burning media
needs. Perhaps this is something that we can discuss at the top in May of 2009. And
certainly I would hope in May and in the future the opportunity to share information.
I know folks like Lynn, Karen, and Paul and Teresa, she has worked quite a bit to
really sit down and look at current products that are available and how those need to
be adapted or updated. And looking at a screening efforts and who should be
conducting a screening. And also strategies to assist with current research and
connecting some of the lead researchers with the families and the kids that we are
currently working with. That is also a possibility. I think it also impacts the whole
area around functional patient assessment and whether they could consider or to
these functional vision assessment so that the kids are not lost in the system. And
certainly the efforts around project stepping stones and cochlear implants maybe it's
a wonderful time to connect this piece to Usher. I have again many more questions
and answers today. But we're kind of forging ahead and I am extremely fortunate to
work with the folks that you have heard here today. So I think what I will do is turn it
over to John and folks can submit questions and speak to the folks that are on line.

Thanks, I want to thank you again to bring these people together and Heidi, Mark, and
Carol again and more questions and more discussions. There were a couple of
questions that were posted. Rather than me repeat them, but I will ask those people
to do to press *6, announce yourself, your name, and where you are from and ask for a
question. I know that Suzy and Michelle both have questions.

This is Susie.

My question goes back to the beginning of the presentation. It was great. It is a
comment and sign language used opposed to a spoken language. And I got a little lost
on the major point about that. Something related to the overall impact of the
diagnosis. And I am trying to understand that clearly as meaning that children and
young adults who had the main mode of language as sign language has a harder time I
want to understand what was said.

I think that that was from my comments. And maybe Terrell can address this better
than I can. If you are a family that has chosen to manage the hearing loss using sign
language as opposed to cochlear implants, not as the supplementation's that Mark
mentioned with Bella because she has cochlear implants. But if you're choosing to not
make use of cochlear implants in a child who has or will have a diagnosis of Usher
syndrome, that I imagine choosing sign language as the principal and only mode of
communication would be more challenging then if they had chosen cochlear implants
for a child who will go on to lose their vision. So my point in making that comment is,
if you take a child with hearing loss, there is no reason to suspect Usher syndrome in
this child. I get the question all of the time, how we change management of that child
with the diagnosis of Usher? And if that child or family has Towson cochlear implants
for that child then there is not as much of a change in that child as compared to a
situation where the child -- sorry, the situation with a family has chosen sign language.
And if they knew that the child is going to deepen the Usher syndrome, they might
change their mind about that decision about the sign language as the principal mode of
communication. So you should find of the genetic etiology of that hearing loss.
Because it turns out to be Usher then maybe that family will make a different
decision. Is that more clear?

Yes, a thank you. It's interesting. I understand what you are saying. It's interesting to
hear input from the adults who themselves have Usher on this particular point. I was
working with the Helen Keller National Center and the support group and boats that
have Usher Type I and Type II and there's perspective is quite different. Because
people will have sign language as their main mode of communication can make a
smoother transition as opposed to those who are relying on auditory information but
have to make a significant change in their mortality. It's interesting from a
perspective for King in the community. So thank you it helpful to put those pieces

I would love to hear from Mark and Terrell. I am not a commission and I do not
interact directly with many of these patients or families. I would like to hear their
perspectives as well and how it may change.
Hi, this is Terrell chiming in. I would thoroughly agree that if you were to interview
individuals who were deaf and did not know that there were going to develop retinitis
pigmentosa and had available to them the option of sign language being their primary
mode and the language of communication. There is not a thing about their upbringing
that they would change and they would not be opting for an auditory modality of
communication. However, it is possible that the difference of experience of young
children getting early access through cochlear implants is different than what older
individuals for whom lipreading for example, if they got some benefits with lipreading
and maybe oral communicators did not know sign language and then developed vision
and parents that interfered with their ability to communicate through partial vision
you would have a different story. So I think that today's kids, Mark talked about his
daughter Bella. It is a wonderful example of what is a deaf anyway with current
technology? And that is different than the life stories of people who are adolescents or
adults in this era.

I would add to that and let me tell you my own personal experiences with that. When
we found out that Bella was that if we tried to figure out whether cochlear implant
was the right approach to follow. We found the deaf community to be very intriguing.
It's wonderful how tightly knit the community is. And there were so many people from
the deaf community who came rushing to all our aid and sign language is such a
beautiful language. I could certainly see Bella and using that. She is pretty affluent
these days and has kept a lot of bit even though she has the cochlear implant. So I
was torn whether or not to get the implants for her and eventually we decided upon it.
And I know that when we got the diagnosis of Usher syndrome and I said, thank God we
have the implants because it was a validation. But I can see myself on the other side
of that and I would be very concerned about what a parents' reaction would be in that
situation of, did I make the wrong choice for my child? Did I put them in a situation
with the would have a more difficult life and if I had made a different decision so I
don't think sign language, not to talk about the Decibels Foundation, but we
encourage total communication so that kids when they leave the program have the
option to go either direction if the -- if they choose cochlear implant or sign
language. And knowing the emotional response of the parents. And to Heidi's point we
would want to know the front to know which way to go and whether or not vision loss
would be part of the future or not.

Do you have something to add?

This is Kat, and I have been doing some research with cochlear implants and keeping
up with the research and in children not only with profound deafness and vision
impairment, but children with hearing impairment, and the implant is such a
tremendous factor. And even between 18 months and three years. So I think, Mark,
your comment is very applicable. Especially with the research that says, you know,
before the age of four especially that the data is showing that these kids are in many
cases typical deaf children catching up with their hearing peers in two or three years in
terms of language outcome. So I think if a parent knows that, if there is a profound
hearing impairment and they can be implemented before the age of two, the language
can be a tremendous factor here. We're talking about two different things about kids
who are 15 or 16 and get a cochlear implant, you will see different of outcomes and
probably the silence which will benefit them. It's critical that we look at the age
variations. I want to quickly call Mark who see how many children with Usher Type I
have cochlear implants because we are getting fed data as well. I want to thank all of
these speakers. It was terrific. Thank you.

Michele, are you there? I know you have a question earlier. I don't want to speak for
you. So if you have a question, press *6. In the meantime I have posted some links on
your screen. I would like you to give us feedback. If you click on the link, it will take
you to your Web browser. And you can complete the evaluation would also welcome
any feedback that you have and thank you to all of the presenters and especially
Tracy. The recording will be made available to a wider audience later today.

Any other questions or closing comments?

Can you hear me?

This is Michelle from Illinois. I have a question for Heidi. I have a question of of the
early diagnosis. The percentages of kids who have the vestibular function and then in
addition have abnormal ERGs. Is it 50% of all of the children or 50% of the 16.2% that
also have vestibular?

Yes, it 50% of the 16%.

Okay. Anything else? Any other questions.

If not, it thank you to everybody. Have a great rest of the week. I will close the
meeting in a second.

Thank you everyone.

Thank you.

[ event concluded ]

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