To me me me me me me me me you me any you.

Baby, baby.

Me me.

Me me me.

It it it it it it it it.

It it is eating it it it.

He has a very visual memory.

A very good memory.

These vacations and these trips and things that I'd rather spend my money on than toys and things around the house are really making a difference with him.

He'll remember them for a while now, we haven't gotten to the point where he's experienced any vision loss yet.

Yeah.

It's.

That's quite nice.

Come on.

I had a high school teacher science teacher that I really loved.

She was very adventurous in science, and we really had a lot of opportunity to do hands on work in science.

Probably because I really liked her.

I thought she was a neat person and really smart.

And so I could envision doing what she did.

I think that's where my love of science was born.

My research is on usher syndrome, which is the cause of combined deafness and blindness.

Through this research and my experience with it, I really have a strong interest in sensory perception.

How we perceive the world around us through vision and hearing.

When he didn't pass a newborn hearing test in the hospital, we didn't really think it was that big of a deal.

Apparently it happens a lot.

So we just moved on with our newborn, went home.

They said in two weeks, come back and retest.

Two weeks later when we went to the audiologist and did another hearing test, there was no brain activity.

In response to sound.

I was with my mom.

My husband was at work.

I had to basically go in the hall and call my husband and say, he's deaf.

He's he can't hear.

He's not going to hear.

You know, I think even in the hospital, I said, if he's born deaf and that's the worst thing, then it's really not that bad.

You know, it's it's it's something we can deal with.

Absolutely.

We we're hoping that because the prevalence of some types of usher syndrome is greater here in Louisiana, we're hoping to be able to educate the physicians that there may be a good reason to go right ahead and do genetic testing early on, because of a founder mutation that came in the Acadian population from Canada to Louisiana, we know that it's important for families to know and be able to choose what type of therapy they want for their hearing impairment, if they know they're going to lose their vision later on.

Do this.

Over the course of the first year, when he wasn't meeting his milestones, I started researching a lot of blogs of kids with hearing loss, and I found a lady who had two children with the usher syndrome, and she was on a group called Parents of Cochlear Implant Recipients.

Then one day someone said, what about children who are born profoundly deaf with balance issues?

And she said, well, 60% of children were born profoundly deaf with balance issues, have usher syndrome.

And the day I read that email, it was like a gut punch because I had a first cousin with usher syndrome.

And at this point I had learned that this is genetic and this is a possibility.

But what are the odds that my husband and I both carry this gene?

And at that point we didn't know, but we figured it was very slim.

Two weeks after his first birthday, he got bilateral cochlear implants on both sides of his ears.

And a week after, when we went to do the follow up post-op appointment, we drew blood for the genetic testing.

There have been studies that have been conducted, and we know that if parents know that their child is going to lose their vision later, they're more likely to choose a cochlear implant for their child.

This doesn't mean that it's necessary.

It also doesn't mean that it's the only good option.

In the past, before cochlear implants were available, individuals with profound deafness learned sign language.

In.

The.

Beginning.

That the beginning.

They did.

It in.

Maybe.

Maybe.

Beginning.

Maybe.

Even 70.

Giggity giggity giggity giggity.

Give me.

Give.

Me.

Another.

Thank you all for coming here.

My name is Dan.

My wife and I just.

Hi.

Okay.

Come on in.

Come.

On.

He likes to dance.

He loves music.

He's in a hip hop class.

I mean, it's his thing.

I'm not gonna lie.

It was awkward to bring him at first.

He was the only boy in the whole dance school.

And a year later, and he pretty much stole the show for the review.

The smile on his face during the review just alleviated any discomfort that I ever had, because that's what makes him happy.

One of our pediatricians said, you need to give him the tools that he needs for what he enjoys to do so that he builds self-confidence, because depression is a huge side effect of this disease as well.

This world is kind of it's already cruel enough, and he's already going to have the cochlear implants on his head.

I do have these fellow moms who have children with usher syndrome that I see at the family conferences every year, and some of them are getting dogs and some of them are getting white canes.

My older cousin does read books on Braille, but it's just not an option we've had to resort to yet.

His birthday is on Monday.

He wants to celebrate for a week or a month, every single day, and everything's about him.

And it's his special week or a special day because it's his birthday and I'm just sitting there going, oh, it's one more year closer.

It's like 365 steps closer to possible vision loss.

And I did one time.

Now it's a confession to a priest.

And I said, I'm jealous.

I'm jealous of these normal kids who walk around and they can hear and they can talk and they can walk and said, you know what?

It'll make you more compassionate in the end.

And I do think it has.

To be.

Physically.

Yes.

And and we want to get this.

I thank you so much for.

That.

I. Guess.

Holy family.

Is this.

So funny how that.

I kept saying I was going to do it since he was born.

I felt like I just needed to do more as his mom first place.

But that's our nonprofit.

We start with a raise.

We had over 600 people register, and we found families that we didn't even know had usher syndrome.

We knew there was research in the works.

Doctor Jennifer Lance from LSU in New Orleans does research on usher syndrome type one see the French Acadian strain of the Jean.

Between 1979 and 1983, she and her colleagues traveled around the state of Louisiana to interview families and recruit them to participate in a genetic study.

They interviewed families, they drew family pedigrees, some of which went back to the 1800s.

They took samples from the families.

So in our laboratory, we developed an animal model of Acadian usher syndrome.

We cloned that mutation from a patient and put it into a mouse.

We call that a knock in.

We tested their hearing, tested their balance, and tested their vision.

And in the Acadian mice, they have very little, if any nerve activity from the ear to the brain.

So we know they have a severe to profound hearing impairment similar to patients with Acadian usher syndrome.

To understand their balance deficit, the Acadian mice run in circles in their cage, and that is indicative of a vestibular deficit or a balance disorder, and measure the response of the eye to the light.

Different levels of light that are being sent from the eye to the brain.

The first therapeutic approach that we developed was an approach to target, specifically that Acadian mutation, and it's called an antisense oligonucleotide.

When we treat our animals with this antisense oligonucleotide, it restores their hearing, it restores their balance and their vision impairment.

It's a very exciting time in our laboratory to have developed and are testing a therapy that works for our Acadian usher mice, so we're really hopeful that we'll be able to try an approach like this with patients.

I like to think that we're years away instead of decades away.

This next phase after discovery in the development of a drug and a clinical trial is a very expensive phase.

In the United States, it's estimated to cost anywhere between 5 and $15 million.

That is a significant challenge for disorders that affect few individuals.

Usher syndrome is considered to be an orphan disease or a rare disease.

It affects worldwide around 1 in 20,000 individuals.

So in the United States, there's anywhere between 20 and 40,000 individuals with usher syndrome, and in our case, it's estimated to be around 200 patients in the world with this specific type of usher syndrome caused by this specific mutation.

And almost all of them are here in Louisiana.

You.

We're a very faithful family.

We believe in miracles, and we pray every day.

And we bring him to get lots of blessings from lots of people.

I used to pray for a cure.

I used to pray for all these things all the time.

And I think.

While I still pray for a cure, I just pray for him to be happy.

Not.