Eye on Jacob Fundraiser

All in the same week as this big press release and TV interview, Sonia Desormeaux, founder of Eye on Jacob (www.eyeonjacob.org) and her amazing son Jacob came to Louisiana for Mardi Gras weekend. Back in October, she came to town so that we could start planning a fundraiser in Acadiana to raise money for Usher Syndrome research. When she and I first got in contact with each other, she was telling me of all these fundraisers that she does in California, where she and her sons live. When I suggested doing one in LA, where Usher 1C is most prevalent, she said she had always wanted to do one here since this is where her family and friends still reside, but she never had the push to do it. So I was her push :)

The date: Thursday, September 19, 2013

The venue: The Victorian, Broussard, LA

Cocktail type attire, silent and live auction items with celebrity guest MCs such as State Senator, Freddie Mills, Scott Angelle, Public Service Commissioner, and former NFL player Jake Delhomme. We will also have some celebrity guest waiters and waitresses from around the Acadiana area.

We are in the process of getting everything together, but the when and where are set in stone, and those are the most important things!

I will be posting more about the event after tax season, but if anyone you know would like to donate items for the auctions or would like to be a corporate sponsor, please feel free to email me at ekatbab@gmail.com. We have a solicitation letter in the works, along with a donation form and sponsorship levels. It’s going to be a good time with good food, drinks and great people. Jennifer Lentz, from LSU- New Orleans, will be a guest speaker, along with a few people from the Acadiana area present who are living with Usher Syndrome.

All I ask for now is to spread the word, talk about it to people, introduce Usher Syndrome to your family, friends and colleagues. Word of mouth is a powerful thing and can have such a positive impact on finding a cure for Usher Syndrome! 

Usher Syndrome in the News!

Thanks to me working out of town this week and my co-worker offering to drive us, I had some time to pull out my computer and do a few write ups for the blog to update everyone. Normally at this time of the year I don't have much time to blog, but this week I lucked out and took advantage of my time in the car!

So here is the backstory (and more detailed version) to all of the press coverage last week! Jennifer Lentz, the scientist and researcher of Usher Syndrome 1C from LSU in New Orleans called me on Tuesday of last week to let me know that her article had been published in regards to a balance and deafness cure in mice using an ASO drug therapy treatment. It took almost a year but got published in Science Daily, which is huge! Basically she injected mice with the Usher 1C mutation and treated them with this ASO drug. It seemed to restore their hearing and reversed their balance issues. This is a very promising treatment for the Usher community as a whole, but it’s still in the works, big time. It’s still years away from being in clinical trials and the vision aspect of Usher Syndrome has not yet been addressed because the mice are not old enough to have any vision loss yet. Either way, she is working on 1C and it’s a grass roots effort by herself and her team… when it comes to finding research funds, grants, hiring people to expand this research, it’s all very difficult with funding being cut from every direction, but she isn’t letting that stop her.

She asked if I would mind being interviewed by the Associated Press because they wanted to pick up the story as soon as possible. Of course I said I didn’t mind, and I got a call Wednesday while I was at lunch. She asked if they could come and take some pictures, but with the time crunch she was on and being that she was located in New Orleans, I offered to send her a few pictures we took around Christmas. Little did we know that we would be in USA Today! People from all over the country were reaching out to us to let us know that they saw the article and the picture in their hometown papers. I thanked her thoroughly for picking up this story because word of mouth and awareness about Usher Syndrome is where it all starts! That’s why I was trying to get in touch with the local news organizations to pick up the story. If people around this area are more aware of the Usher 1C genetic disorder, then more people might consider getting tested for something like this. We have met a number of people whose children were born deaf and they had never even heard of Usher Syndrome. Therefore, they did not find out their children had it until early adolescence when they started to lose their night vision. The only reason we tested was because I had family history of Usher Syndrome. Otherwise, we may never have gotten the genetic testing done. And let me say, I’m so thankful that we did. My goal is to spread awareness as much as possible.

Here is a link to one of the articles that included our family picture

http://www.therepublic.com/view/story/2095d17ff53a469c815f9e1459ebe055/US--Usher-Syndrome-Study

And here is the link to the article in USA today

http://www.usatoday.com/story/news/nation/2013/02/09/partial-fix-usher-syndrome/1904605/

Which leads to our TV debute! KATC TV 3 didn’t want to pick up the article put out by the AP, but they wanted to do their own story on Hunter living with Usher Syndrome. So on Thursday of the same week, they called and asked what would be a good time to come and do the story from our house. They wanted to come the very next day and air it on the evening news. So when we got home that night, we were in a mad dash to make our home look as neat and not lived in as possible! They came at 7am on Friday and the reporter Akeam Ashford was such a pleasure to work with. As uncomfortable as it made me to do this story about ME and MY family and the condition MY child has, it was the perfect opportunity to get the word out there. I’m glad we did it and I hope to be able to do more of it in the future.

Next post…. Eye on Jacob Fundraiser

Hunter- 23 Months Old

So here’s an update that’s long overdue…. And it’s a long one.

Blair turned 30 on January 5^th. (he’s old!) On that very same day, Hunter put his magnet back on his head for the very first time by himself while we were at the Little Gym. It was soooo exciting for us both! I meant to blog about this a while back, but Blair said we will always remember it because it was on his 30^th birthday! At that time, Hunter was a little over 8 months post activation. It makes life so much easier for us all, especially in the car. Sometimes when he can’t find the right spot to put the magnet he gets annoyed, but we are trying to teach him just to say “off” when that happens. For those of you who haven’t seen him lately, we exchanged the tan colored coil/magnet for a brown one and they blend so well with his hair. A friend of ours asked where the magnet part of the CI went, but she didn’t realize it was there and she just couldn’t see it! The processor is still tan, but I think it looks normal since that is the part on his actual year.

Every night Hunter and I read books before bed, and one of them is a counting book. Well I can truthfully say that he counted to 10 all by himself last night, then pointed to his head and made the sign for “smart” while saying “mart mart!” Our sitter, Nini, always does that after Hunter sings the ABCs, and it’s a trip to watch him do it too! We work on the ABCs every night as well, and I think he pretty much has it down pat except he isn’t a fan of M or N. He goes straight to “OOOOOOOO P QQQQ” after L. He also likes to try and sign the ABCs while he is singing them. He has goes A down pat and he is proud of it! Then he proceeds just moving his fingers to make it look like he knows what he’s doing :)

I had off of work for Mardi Gras day and Hunter was home from daycare as well, so we had a couple of play dates and just maxed and relaxed the whole day. Blair and I had a Mardi Gras ball on Monday night, so he picked the perfect day to sleep until 7:45am! I was sure he was sick, but no, his Tia babysat him the night before and I think she just has that effect on kids to get them to sleep as long as possible J That afternoon Hunter and I also took a 3 and a half hour nap. And the minute he lifted his head, he said “rice”. That boy can eat. But I told Blair, I felt like he was really putting so many words together. I think he gained vocabulary during his nap!

And as for being all over the press last week…. Whoa! I will have to address that in a separate post later this week! It’s been wonderful for the entire Usher Community!

Happy Valentine's Day!

Link to KATC Newscast

For those of you who missed the KATC newscast last night, or for those who don't live in this area, I have posted a link below. We cannot say enough how great it was working with Akeam Ashford at Channel 3. He was so polite and truly interested in Hunter.

http://www.katc.com/news/boy-lives-with-usher-syndrome-type-1c/

I got a text from Akeam Friday evening say that the ABC national news is picking up the story. Hopefully this will help to educate more and more people on exactly what Usher Syndrome is and what they can do to help!

Thank you again to everyone who helped out with this, journalists and news casters are what it takes to get the word out. Hopefully we get a call from Ellen real soon :)

Good Evening Acadiana- KATC TV 3

I just received a phone call from KATC TV 3 and they want to air our story about Hunter and the advancements in research for Usher Syndrome. They are coming over bright and early tomorrow morning and airing the story at 6pm & 10pm tomorrow (Friday). Be on the look out for Hunter on KATC TV 3!

Yes... I'm super nervous and don't want to be on TV. But it's what we wanted, we wanted to bring awareness to Acadiana about Usher Syndrome, and what a better way to do so than being on the 6pm & 10pm news! I'm hoping they mostly show Hunter :)

On to a positive note!

I got an email from the researcher, Jennifer Lentz, from LSU in New Orleans on Tuesday. She said her article had been published about her drug therapy that she is testing on mice who have Usher 1C. This is VERY exciting news for the entire Usher Community. Her testing has so far corrected the hearing and the balance aspect of Usher 1C, but this could lead to a cure for the vision as well. She asked if I would be willing to speak with the Associated Press because they wanted to interview a parent of a child with Usher 1C, to which I agreed of course. I am also in the process of contacting local news organizations to make sure that the article put out by the AP is picked up in this area. And although treatment in people is still years away... it's in the works! :)

Here is a copy of one of the articles published by a New Orleans news team:

Local medical research team makes breakthrough in curing deafness

Meg Farris / Eyewitness News

WWL-TV

NEW ORLEANS -- Usher Syndrome is the leading cause of combined deafness and blindness in the world, affecting one of every 6,000 babies born. The genetic defect is even higher in Acadian people here in Louisiana and Canada.

Now a local research team has taken a major first step to curing this deafness by successfully treating it in a mouse model.

In 1998 Dr. Bronya Keats made research headlines when her team at LSU Health Sciences Center found a genetic defect that caused a type of deafness. She said then that a therapy to fix it was a decade or so away.

Now 14 years later, a young scientist who worked in her lab has done just that, by treating Usher Syndrome in mice that had the human gene for Usher put in them.

"The study reported today, shows that a single dose of the therapy corrects deafness for at least six months out of the life of the animal which is about two years of age," said Dr. Jennifer J. Lentz, the lead author on the paper and an assistant professor of otolaryngology and biocommunications at LSU Health Sciences Center.

Dr. Lentz worked for years to create the mouse model with the human Usher's gene. Now she and her team at the LSU Neuroscience Center have discovered an injection that tells the defective gene in Usher syndrome to express, or to do what it is supposed to do if it were not defective. This finding is just released in one of the most prestigious publications, Nature Medicine.

"This is without any doubt a very significant breakthrough in medicine," said the head of the Neuroscience Center, Dr. Nicolas Bazan.

Video on the Nature Medicine site shows the therapeutic breakthrough in mice. One that is spinning around has Usher syndrome. It has inner ear problems that cause it to have balance problems. It can't hear either. But after getting the therapy, the mouse acts completely normal.

This discovery, for treating the gene that causes babies to be born deaf with balance problems and then become blind in their teens, could open doors.

"The importance of this study shows that we can target the ear to correct deafness and we can hopefully use this approach to treat other forms of deafness," Dr. Lentz said.

"This is one of the most exciting times I believe in medicine," said Dr. Bazan, who praised Dr. Lentz's creation of the mouse model.

The special mice had to be rescued during the floods of Hurricane Katrina.

Dr. Lentz said studies and treatment in people is still years away. 　

Isolation and Usher Syndrome

I don't really favor addressing the downfall of anything that has anything to do with Usher Syndrome. But I just read this article that really put a knot in my throat. 

This is a link below is a story on the psychological effects that Usher Syndrome can have on people who are socially isolated because of their diagnosis. It is our job as parents, and your job as family members and friends to help give those affected by Usher Syndrome the same opportunities you would your own children. Isolating these people affected by Usher Syndrome is more harmful than deafness and vision loss. In fact, it could be lethal. Read on for the blog titled "Outrage". 

http://www.usher-syndrome.org/index.cfm/event/blog.detail/blogId/11409#blogTitle