A break from Facebook

I just wanted to send an update out there to let everyone know that I will be taking a leave of absence from Facebook...we've got so much going on lately that I am starting to forget the super important things in life, like therapy appointments, diaper bags, medicine, etc. I think my mind has been on information overload lately, so I will continue with my updates about Hunter through the blog, and everyone is welcome to follow us there. I will post pictures and updates as though I were on facebook, but now I will only have one "network" to keep up with. I'm just trying to mentally declutter and get my head on straight again! I have my email address on the blog as well for anyone who needs. Facebook is a great way to stay in touch and I appreciate everyone following Hunter's progress through there, but for now it's just the blog. I'm sure once things slow down we will be back!

Here in the link to the blog for anyone who is interested.
www.angelicears.blogspot.com

Walking... Baby Steps!

Blair, Hunter and I decided to make our way to my parents' house in New Iberia to weather Isaac. While we were there, we decided to do a little practice walking.

The following video is the very first time Hunter has taken this many steps on his own. I wasn't this far away to start off with, but I kept backing up and backing up because he was doing so well. The following night he was even pivoting and walking on his own. Granted, Blair or myself have to always set him up first and get him on his feet. But we are thrilled that he can do it this far on his own. Is he walking on his own all the time? Not yet. In fact, the following day he wouldn't do it at all until later that night. But it isn't far away, I just know it!

Enjoy this video, because we have watched it over and over, and over and over! My favorite part is the big hug at the end :)

4 Months Post Activation

4 Months.... It's so hard to believe that it's been 4 months since my baby heard for the first time, and what a turn he has taken in just the last month or so. I was watching his activation videos again this past weekend, and it was bone chilling all over again!

I find one of the main differences between now and when he was 1 month post activation is that they don't fall off NEARLY as much as they used to. Granted, Hunter is very active so the magnet does still fall off here and there, but it has gone from what felt like 100 times a day to less than 10 times a day. Although putting his ears on has gotten easier as well, it's still not ideal. In the mornings, we put Hunter in his high chair and start feeding him before trying to put them on. Sometimes it works, and sometimes it really really.... really doesn't. I can safely say he's not to the point where he's asking for them just yet. In fact, sometimes it can get down right ugly. But once they are on, he is usually good to go.... Until you tell him no. He doesn't like being told no. And when he gets mad, he reaches for his ears and throws them off. Even if he's in the tub and gets mad, he reaches for his ears (which aren't even on in the tub) to throw them off.


We have got some definite words that Hunter likes to use without any ques from us:
Mama
Dede (dada)
Bye bye
Muh (more)
Heyyyy
Hi
Ball
Un (one)
Keekee (kick)
Light
Sssss (Snake, or even Sssss for rope!)

And we are working on the following, but we know exactly what he's trying to say:
Water
Cheese

He has been mimicing a lot of things these days as well... or should I say almost everything. When he hears other people laugh, he gives the cutest fake laugh. And the same thing for when someone coughs, he has to get a cough in as well, and then he will pat himself and the other person on the back. Today I sneezed and said Bless Me! And he attempted to say it as well! When he is in the mood to repeat things, there's no stopping him!


Hunter has become the mighty babbler these days. He actually talks and points and we think he's in deep conversation with himself sometimes. It is amazing to witness this transition that is taking place before our eyes with his vocabulary and receptive language skills.

Walking... We are still working very hard and tirelessly. I believe he is over crawling, for the most part, and ready to be on his own and on his feet, at least in hid head he is. His mind and his physical body are there, but the balance is still lagging behind. Although we have graduated to walking assisted with only one hand, his vestibular system is still pretty far behind. Blair and I practice with him and get him to walk back and forth between us but it's more like him leaning into a fall. We still applaud like there's no tomorrow and he is so proud of himself. But we are definitely glad that he likes being on his feet. He has also started more knee crawling/hopping, but its a sure sign that hes gaining control if his balance day by day. With the amount of assisted walking that he does now on a daily basis, we should probably be grateful that he isnt completely on his own just yet because if he were he would be unstoppable.

Here are a few short and sweet videos of Hunter saying Hey, and attempting to say Cheese!

And a few pictures from celebrating Nana's birthday this past weekend in False River:



Semi-Wordless Weekend Update

Mr. Too Cool for School!

Hunter's favorite thing now is to count, and he's trying really hard to say "one"!

:)

H and some of his friends at Baby G's birthday party!

Watching daddy and mommy (trying her best) play ragball!

Hunter has had a few cousins born this month, and we could not be happier for them!

Welcome to the world.....

Kate Conrad McGowan, born 08/10/2012

Sawyer Claire Framel and Greyson Michael Framel, born 08/16/2012

Between work, work conferences, therapy appointments and traveling to see all of our new loves we have been on the run so much lately. I promise to post a better update soon. Mr. Hunter has been babbling up a storm lately!

3 Months Post Activation

Hunter made 3 months since his hearing birthday the Friday that we left for the beach, July 27th. What an exciting milestone for him and he is doing so well already! On our way back from the beach, we timed it right for AV Therapy in Baton Rouge and Hunter napped right before so it worked out well. He was babbling up a storm and being so silly the whole time we were there. It was a great session. I asked Shelley how she thought he was doing, on an overall level. She said his speech development is doing quite well. He has met almost all of his 0-6 month goals for listening/speech. And he's only got 3 months under his belt. I feel like she pushes him, a lot. Which isn't a bad thing, but she always makes me think she is expecting so much more from him. She said at this point she is ecstatic about the babbling that he has been doing the past 3 weeks. She said it starts with noises, turns into babbling, they try to start singing, and then comes words. I guess I was under the impression that he was already supposed to be saying a handful of words by now. (don't ask me why) I guess maybe because some kids are. Granted, Hunter says Mama, he attempts Dada, although most of the time it's Dede. On the trip he was saying LiLi, which we kept trying to turn into Eli :) And he says "all" for ball. But makes the B sound quite often. So we are working on putting it all together! Just yesterday we had an Early Steps meeting at our house, and when they were all leaving he was saying Bye Bye! Whoa, such a new word for him, and Shelley said words don't normally come until 12 months. (in hearing children) Now our goal is to make more than 12 months progress in his first year of hearing, so I heart warmingly believe we are on a roll right now. In the session on Wednesday we would ask Hunter... where's your head? And he would point to his head. Same with ears, eyes, mouth and nose. And Shelley said that he's ahead of the curve on that as well. Nothing like music to my ears!

Here is a video of Hunter being silly with Shelley on Wednesday:

That's it for now. The only other thing I can think of is that we are still working on walking.... OT thinks he will hopefully get it by 19 months. The average is 21 months for Usher babies. Fingers crossed, but we know that once he does he is going to start out running and I don't think he will stop for anything!

Catching Up

I cannot believe I have no posted since July 16^th and we are already in August. Looking back on my calendar, I have no good excuse except that we went to the beach for 6 days, packed for 2 days before that, and have been recovering ever since!

First, the beach trip. Man oh man, how a 1 year old can change everything about a “vacation”. I was excited because on past beach trips we usually go for a long weekend, but this time it was 5 nights/6 days and I was very much looking forward to getting away and spending time with good friends and family. Although Hunter didn’t sleep but about 20 minutes on the way there, the ride wasn’t that bad. As long as he was being fully entertained or eating, he was content. (it’s more exhausting than it sounds). The first morning we were all moving pretty slowly trying to get things packed up to bring down to the beach with us. The tents, the umbrellas, the baby pool, the ice chest(s), the toys, the snacks, the sunblock, the cameras, the sunglasses, the floaties…. I’m sure I could go on and on. Since we didn’t make it down there till mid-morning, Hunter wasn’t very impressed. After 20 minutes of him pouting on my lap, I decided it was probably time for a nap. One great thing about Hunter is that we take his ears off when he naps, so he doesn’t wake up for much except a nunie that was flung across the room or a new tooth coming in. So while he napped, I decided to do the same while everyone else was on the beach. In the afternoon, we tackled the baby pool and he really liked it, but wanted to walk around and around and around in non-stop circles. Or random patterns I should say. And he only walks while holding someone’s hand… so what do you know, Blair and I were walking around the baby pool crouched down or on our knees. Haha, there was no just sitting there and playing with the toys like John Parker and Eli were doing. We have one little busy bee on our hands. We were glad to have willing family and friends there to help walk Hunter, haha!

I played the next few days a little better. Sunday we did mass in the morning so I waited until after lunch and his nap to attempt anything. And on Monday we went down super early so as not to interfere with nap time. He did better the second time on the beach, but only left Mommy and Nana’s laps for a split second. Every time he got sand on his feet he would just stare at them. He couldn’t understand what it was or why it was there. Totally understandable, it was his first beach trip J

Although the trip was a little overwhelming, once we got a routine (and moved the coffee table out of the living room/dance floor) it got a lot better. I think he enjoyed crawling and jumping around the living room even more than being in the water. We had Mommy/Hunter dance parties, and Hunter played a lot with his two buddies who were there. Here are a few of the pictures from the trip!

 Blair reading to Hunter and Eli

 Brandon, Eli, Hunter and Blair

Family Pic

Hunter on the beach

Wess reading to John Parker and Hunter

On a positive note...

Ever since I posted the picture of what a person with RP's vision is like, I felt pretty depressed. I don't want my blog to be a depressing one, but at the same time I want everyone who is following to know exactly what Usher Syndrome is all about. I hope you all took it as an informative post and not a depressing one, because I do not want my blog to leave anyone feeling down!

Let's talk about the good stuff now! This past Friday I turned Hunter's ears up a notch. He didn't seem to mind it (no excessive blinking) although he was a little jumpity at times, I guess depending on what kind of environment he is in. At the Little Gym, the excessive noise didn't seem to bother him, but if we were at home and it was quiet when I said he name, he would jump. Today I decided to turn them back down to the previous program because he woke up with a virus and was not himself this morning. And when I would say something he would jump and start to whine. So yes, I gave in. I turned them back up after his bath, but he was fighting me to put them on. He then went to his room and did the sign for sleep... so on one hand I thought he could possibly really be tired because he threw up twice this morning and took 2 naps today for a whopping 5+ hours of sleep. And a lot of times when he sleeps a lot during the day it makes him more sleepy at night and he goes down early. On the other hand, part of me thought he was just signing sleep because he didn't want to put his ears back on. I think he knows now that when he signs sleep we take them off. Considering he's been in bed for over 30 minutes, isn't crying but is babbling, kicking, dancing and every once in a while sticks his head right into the video monitor camera... I'll go with the second hand. I think he knows we are watching ;)

This weekend Blair and I got a date night on Friday with some much needed alone and adult time. We are very lucky to have parents who live driving distance from our house and are always willing to watch Hunter for us. Saturday was full of fun with my neice Evangeline's birthday party and a gathering for Blair's grandfather who was recently diagnosed with lung cancer. His grandfather has touched so many people's lives through his sincerity and humilty that I think the whole town of Loreauville was there! There was sooo much food, and great music! Here is a video of Hunter "two steppin"! I truly believe it was music to his ears :) 

Notice that holding on to the tent gave Hunter a since of independence and he was able to easily move up and down on his own. His big thing lately is walking.... although he isn't walking on his own yet because he simply has not yet developed his balance due to the Usher Syndrome, he wants EVERYONE to walk him EVERYWHERE. He wants to be independent so badly, just as every 16 month old does... so I think once he does start walking he is going to start running! On another note, our OT came over on Thursday and still says she is continuing to see great improvement in his balance. Slowly but surely he is making progress. Although the average walking age for children born with Usher Syndrome is 21-24 months, she thinks because he wants it so badly that he will be walking by 19 months. We all hope so poor baby, he is just so so ready! Here is a video from the little gym on Saturday walking with assitance there as well! Oh and I almost forgot... when we were at Sunday lunch at my grandmother's yesterday, Blair let Hunter go about 2-3 feet in front of while while he was sitting, and Hunter walked right into his lap! Whether it was him trying to catch his balance and falling into the walk or not, we were all cheering like the Saints had just won the superbowl!

Here are a few pictures from the birthday party on Saturday. We tried a few group pictures at the very beginning, and Hunter was the only one being a party pooper. But I guess they make for some funny pictures!

Hunter and Evangeline

We tried everything to get him to smile! Haha!

Have a great week everybody!

Smiles,

Elise

Tunnel Vision

Here's an idea of what RP does to a person's vision.... Right, ouch.

Usher Conference 07.07.2012

Upon entering the registration section of the conference, we passed Sonia Desormeaux, from Louisiana, with www.eyeonjacob.org and her two sons. Her sons were not attending the actual conference because there was another area for the kids, but we were glad to meet both of them. After getting our name tags, we entered the room not really knowing anyone, so we took a seat at a back table since we were some of the last ones entering. Being that we had never been to one of these, we had no idea how many people to expect. I would say there were around 100 people if I had to guess. Not all of them having Usher Syndrome, but about half with it and half were family members of people with it. The minute I sat down and looked around, I noticed multiple seeing eye dogs and even more people with the “white cane”…. Whoa. I wasn’t exactly ready for all of that and I just started tearing up. It really hit Blair and me like a ton of bricks, and unable to hold back my emotions I had to leave the room for a minute to get myself together. I think this is the closest I have come so far to feeling how real this syndrome is. We were surrounded by it and there was no turning back. Once I walked out and had a moment to myself in another room, I was fine. It was just the initial shock of it all I guess. And I know Blair felt the same way, although he doesn’t always wear his emotions on his sleeve like I do.

Now I will try and sum up the conference as best I can, but forgive me if I jump from one note to another… I am going by the few things I wrote down coupled with my not so great memory of what was said that day.

Mark Dunning, head of the Usher Coalition, (who has a 13 year old daughter with Usher Syndrome) was doing the introductions, and he noted that his daughter fell down the stairs because she didn’t have the depth perception to be able to tell when to step down. This lead to them placing bright orange tape on each of the steps so that the people there with Usher Syndrome could tell when to step up and down. That in itself is just one very small affected area of someone with Usher Syndrome.

The first speaker was Dr. William Kimberling from the University of Iowa. This is where Eye on Jacob’s funding goes to research a cure for Usher 1C. Type 1 is the most severe form of the condition, and furthermore, according to Dr. Kimberling, Type 1C is the most rare of the 5 Type 1 cases identified, so its attention tends to get pushed to the back. Most of Type 1C is found in Louisiana. What I didn’t realize is that he pointed out the fact that 1 in 10 people walking the streets carry the gene for Usher Syndrome. Granted there are eleven different types and it’s not all 1C like Hunter has, but 1 in 10 people merely carry the gene. Now the fact that Blair and I both carried the defective gene and got married is the reason Hunter has Usher Syndrome, and there was only a 25% chance that he would get both defective copies of the gene.

Dr. Kimberling went into more depth about the part of Usher Syndrome that leads to blindness (retinitis pigmentosa, RP). It is caused by garbage that accumulates in the retina, and then damage occurs to the retina. This disease in the rod of the eye leads to loss of rod function which in turn leads to night blindness and tunnel vision. The vision loss part of Usher Syndrome generally starts in the teens, but I know of two families who have said it started around the age of 7 or 8 for Type 1. Although individuals with Type 1 still have very little vision, they are still considered legally blind once it gets to a certain point. He also touched a bit upon children with Usher Syndrome who have the Cochlear Implant and are being mainstreamed these days. (which is what we all want for our children) But the fact that in the past, all deaf/blind children went to schools for the deaf, all of the teachers there were abreast on the knowledge of what special accommodations were needed by these children. Including things such as the bright stairs so that children didn’t trip. These days with the Cochlear Implant, most children with proper therapy at a young age are able to attend mainstream schools. But these mainstream schools and teachers are not aware of the needs of deaf/blind children. They highly recommend children in mainstream schools to have a buddy, someone to help guide them around when they do start to lose their vision.

Let me also point out that a majority of the conference was talking about how important genetic testing is. Finding out which type of Usher Syndrome you or your child has will allow them to be put in categories for possible clinical trials and treatments down the road. Without knowing which type a person has, treatment cannot be given due to the very specific differences of each type. We are very lucky that we were able to find out at such a young age which type Hunter has. There was a couple sitting next to us with an 11 year old who was diagnosed only a couple years ago. And their diagnosis was not even a definitive one. It took 5 months to get inconclusive results back from the testing to say that it was Type 1, but they could not determine anything further from there. Their son was born with profound hearing loss, received CIs around 16 months and did in fact walk at a later age, around 21 months. But this couple was not even aware of Usher Syndrome, due to no family history of the disease. It wasn’t until a couple years ago that their son started losing his night vision that this became a possibility for them. Wow. Am I glad we found out that Hunter has Usher Syndrome at such a young age? Yes and no. But definitely more yes. I want to soak in as much knowledge as possible about this, and I want to fight it. And selfishly no, because it kills me seeing the real possibilities that Hunter may have to face. Mark Dunning and I have talked briefly through email a few times, but when I introduced myself to him, he said in his opinion, he does not believe that Hunter will have the vision problems that most people here do. We are at least 5 years out from this affecting him, and he truly believes by then that there will be treatments for RP.

There are things in the works right now for treatments. There is gene replacement therapy, there is stem cell replacement, and there is the Vitamin A treatment. But the only semi-promising thing to us right now is the Vitamin A treatment, and that in itself is still very controversial because only one proven study has been made to show that this can prolong the vision loss of patients with RP. So other doctors are very hesitant because there are not more supportive studies to prove this method. It can in fact affect other organs in the body, but these are all things that are monitored while the Vitamin A is administered. As I have said before, this kind of treatment cannot begin until at least the age of 6, so we have time to look into it all. We have time to look at all of our avenues. I can’t believe I am saying this, but we are lucky…. Simply because we have time.

There were other speakers who talked about progressive hearing loss and Usher Syndrome and about the Foundation Fighting Blindness. A lot of this is still over my head, but I thought I would tell you all about when Mark Dunning spoke about the Usher Syndrome Registry. This is where people with Usher Syndrome can go and sign up so that the Coalition can gather a listing of people with Usher Syndrome. So far, people from 21 countries have signed up. And the more people we can get to sign up, the more numbers we can get, the more of an impact we can have on the NIH to get funding for Usher Research. 1 in every 7,000 people have Usher Syndrome, and 45,000 people in the United States have Usher Syndrome. These numbers are leaps and bounds beyond other diseases that the NIH is giving $45 million a year to research for. If you are someone you know has Usher Syndrome, here is a link to the registry where they should sign up. https://www.usher-registry.org/

The final part of the conference was the family panel. This panel consisted of 3 people of various ages with Usher Syndrome, and one woman who has an 11 year old daughter who was recently diagnosed with Usher Syndrome. They were presented with different questions about how Usher Syndrome has affected them and their families, and more so their everyday life. To touch upon a few of the main points, I think most of the people up there missed their independence. They miss being able to do things for themselves and having to rely on other people for so much. I think the most interesting of all was Megan of The Megan Foundation, http://www.meganfoundation.org/. She found out at the age of 22 that she had Usher Syndrome. And today, 5 years later, she has a seeing eye dog to help her get where she needs to go without hurting herself or needing another person to assist her. She said it affects her life every.single.day. One of the main things that alters a person’s life with Usher Syndrome, is that driving is not a possibility for them when their vision gets to a certain point. So she said if it’s 7:00 at night and she needs to go to the store, she has to call her parents to come and get her to bring her to get whatever she needs. One of the questions from the attendees was whether she had “normal” friends without Usher Syndrome, and she said she actually only has one friend with it that she recently met. She went to college like every other person, she goes out with her friends all the time as well. But there are times that it gets difficult for her. Sometimes she doesn’t always catch the conversation going on and she chimes in too late when everyone is done talking if it’s too dark to read their lips. She has to have her parents drop her off at the bars to meet her friends, which isn’t the coolest thing. But she did mention that one up side is that she doesn’t ever have to be the designated driver J. They also asked if she wishes she would have known earlier in life. And she said yes and no. Yes because she probably would have worn sunglasses to help protect her eyes. She said she never wore sunglasses when she was growing up, and if that is something that could have prolonged her vision loss, then she would have done it. But she also isn’t sure if knowing would have prevented her from going to school for architecture and following her dreams of going to college and doing what she loves. She may have been more hesitant if she knew that she was going to lose her vision. So for that aspect, she is glad she was unaware at the time. She admits that there is fear of the unknown, but she tries not to let her affect who she is and what she wants to do with her life. There is a video in the about section of her website that gives a more detailed story of her life http://www.meganfoundation.org/about/.

I know I have put out a lot of random things about the conference, but all in all I am glad we went. Blair and I were able to speak with Sonia Desormeaux about getting her public service announcement around the Lafayette area for next year, and holding one of her Eye on Jacob fundraisers in Lafayette at a later date as well. All of her family and friends still remain here and have been wanting to help, so if we can put our connections together, this could be a massive fundraising event for research to find a cure for Usher 1C. Just that thought makes me tear up. So yes, going was worth it. And we may even decide to go every year to keep up with all of the new testing and clinical trials going on, and mainly to network with these families who are walking in the same shoes as us. It was heart breaking on one hand, to see what the effects of Usher Syndrome has done to many of the attendees, but it was also hopeful to know that so many people have come together with one goal in mind. And that goal is to find a cure. My goal is for my baby to be a part of all of this, and we will keep fighting until it happens. I will talk more later about ways we are going about trying to contact our Senators to get consideration from the NIH for funding… as I said I am still pretty new to this, but I am always willing to give it a shot!

St. Louis

I know everyone wants the details on our weekend in St. Louis, but I need to gather a few things I wrote down and really set aside some time to write about the actual conference. Blair and I are glad that we attended, I think it was well worth it. But here is a little about the rest of our weekend.

Blair and I headed out to St. Louis early Friday morning while Hunter stayed with his Gammy and aunts and cousins all weekend! We only THOUGHT Louisiana was hot... oh my! It was a smooth 105 degrees when we got there, and I'm pretty sure they set a new record high in St. Louis yesterday. Blair saw Pappy's BBQ restaurant on Man vs. Food, so we decided to check it out after checking into the hotel. There was a small line outside, but the guy selling water told me we had about a 35 minute wait. Little did we know, the line went all the way inside the hall of the restaurant, then also curved into the restaurant. I would say we waited about 45-55 minutes. Was it worth it? Yes! It was good, very good. I'm just not sure I would do it again in blistering hot weather! We then made our way over to the Budweiser factory for a tour and ended the night with some of our LA friends at the Cardinals game. Just sitting in the stands, after the sun went down, we were still sweating buckshots! We called it a night a little early since we had been up since 4:30 and we had a long day ahead on Saturday.

After the conference on Saturday, Blair and I caught a movie in our hotel and then headed to dinner with Sophia's Grace and her wonderful parents! I have always followed their blog and loved watching her progress, so we were delighted to be able to meet them! Sharing stories of our children and the parallel roads that we have been through is just so nice to be able to do in person with another family. And Ms. Sophie was a doll at the restaurant. Hearing her speak SO well just warms my heart!

I know Hunter had a great weekend, but we missed him terribly and were so ready to get home to him. Well we get here, and he's asleep... and has been for 2 hours now! I can't wait to see his face when he realizes we are back home :)

Have a great week everyone, I promise to post about the conference asap.