It's Genetic!!!!! TMPRSS3

Wow, okay, so there is so much to update on, and I don't even know where to begin. Let's start with the most important, family-- we are all good.  Really good.  Bryce is a terror of a 3-yr old, and Ryan, I swear is on the verge of distinguishable first words.  Her favorite of the moment is mamamamama... however, she also loves her animal sounds, particularly the giraffe.  (Yes, in speech therapy, giraffes make sounds...I didn't know that either.)

Second, news flash...Ryan's hearing loss is genetic.  And for anyone who is familiar, it is not the most common gene associated with hearing loss, the Connexion 26.  After this initial test confirmed that Ryan had hearing loss not due to genetic rationale, our geneticist asked us if we would like to do further testing on a whole host of genes that are associated with hearing loss.  She forewarned us that many of the genes that we were testing also coincided with other 'syndromes' that could be developed in addition to Ryan's hearing loss.  Of course, we said yes, as we really wanted to know anything we could know about anything related to Ryan's reason for hearing loss.

This test took place after her CI surgery-- they drew blood while she was under.  Well, hello, fast forward, 5 months later (wow, it's been five plus months since surgery...) we got an answer, as follows:  Two mutations (variations from "normal") were identified for Ryan in a gene called TMPRSS3. This is likely to be the cause of her hearing loss. Mutations in this gene are associated with non-syndromic sensorineural hearing loss. This means that her hearing loss is NOT due to an underlying syndrome. We do NOT expect her to have additional health problems related to the hearing loss.

Hearing loss due to mutations in TMPRSS3 is inherited in an autosomal recessive pattern. If we assume that you and Ryan's father each have one of the two mutations that Ryan has, the chance for you to have another child with hearing loss is 1 in 4, or 25%. This chance is the same with each pregnancy. Testing can be done to confirm that each of you have one of these mutations. Testing can also be done in a future pregnancy if that is something you would be interested in.

As you can tell, I'm pretty excited. It totally gives me some closure, I'll just leave it at that.  That's all for now..so much to do...we are moving, just 2 miles away, but man oh man, I will be glad when it's over.

Birthday Party

Ryan turned one year, exactly 1 month ago...pics are a bit late.

She is growing by leaps and bounds, and her babbling is amazing.  She babbles dadadada and mamama.  She knows many words including her name, no, yes, food, milk, Bryce, mommy & daddy.  She probably actually knows more than just those, but those are the ones I am confident she knows well.

She had another appointment with our audiologist...it's amazing how Ryan went from zero response to a confident response to sound.  We tweaked her mapping settings (ignore my incorrect terminology), and now, I cannot even explain how much more she is saying, just in the last 5 days.  She just exploded with babbling all different noises.  So great.

Girl has what I would call a serious no-nonsense attitude.  Do not mess with her... and at the same time, she is very stubborn.  She doesn't walk pretty much because she doesn't feel like it.  She cruises everywhere, she holds one hand and walks, and yet, she would rather be carried.  Sigh.  

Anyway, enjoy the pics!

One Year

12 Months!

Already!  Some days I cannot even fathom how fast this year has gone, and yet there are some days in which I reflect upon, and think that the one-year mark looked so dauntingly far away.  

Ryan is doing so well.  So many sounds, so many different noises.  She has definitely progressed to at least that 7-month point, before the first surgery took place.  Actually, I would say she is further because I know that she is comprehending much of what we are saying...

Anyhow, on to the normal stuff.  We haven't had the one year check-up yet, but I can confidently say that we are still a chunk.  Case in point, I gave her pasta with cheese and bread tonight.  She had probably triple the amount of Bryce.  I mean, this girl wants to eat.  And, it's not like we feed her cookies and junk food, she just loves her food.  If it looks like food, it goes in her mouth...that includes the dog food.  (another story...)

She is at least 20 pounds, and she is still pretty tiny (short)- at least I think.  I don't remember Bryce being so little still at his first birthday.  He was already this little man by then.  Also, Ryan is not quite walking yet-- we are on the verge, but I'm guessing we'll pass the 13th month point before that begins.

Ryan's favorite part of the day is the morning, she just crawls all over upstairs, and is just into everything...sigh.  She adores her brother, and enjoys playing with all of his cars.  (He's not a huge fan of this...but he does try to share, sometimes.)  

When we are happy, we love to be held.  Correction.  We like to be held all the time.  We whine a lot.  Then we get picked up and the world is our oyster.  Sigh.  Bryce was not like this.  He was the exact opposite.  Ryan, has no problem showing us how annoyed she is, or how happy she is.  Her moods are very evident.  That said, she's very happy most of the time, but when she isn't-- look out.

We are finally starting to get some hair-- it's kind of a strawberry blonde, emphasis on the blonde.  Only the tiny bows still work for her though.  

That's all for now!  Happy Birthday girlie!

11-Months

So, yes.  Ryan is 11-months.

I cannot believe she is 11-months.  As slow as some of these days, weeks, and months have been in disbelief, denial, and anticipation, I cannot believe we are here.  This is our baby girl, our new normal, with her amazing cochlear implants.

Before 11-months ago, I had no idea what 'CI's were.  And before we knew it, we were thrown into this crazy world of hearing loss, early intervention, audiology appointments, surgeons, and speech therapists.  Oh, and that's alongside managing her crazy 2-year old brother.

Thank goodness we've made it here, as I don't think I could take anymore surprises like this one.  I'm so glad that Sean and I pretty much put our foot on the gas in terms of getting her to hearing as quickly as possible.  With help from all of her wonderful specialists and doctors, she will persevere.  If this is the worst that can happen, we'll consider ourselves so fortunate.  (I definitely didn't think that way the day she was referred to the audiologist because she repeatedly failed her newborn hearing tests.)

In regard our baby's development.  We finally crossed some huge milestones in the last couple of weeks-- pulling herself up and crawling are two things that have become recent achievements.  We are also hearing her vocalize so much more.  Amazing how far she has come in six weeks!

Also, she always sleeps through the night, her hero remains her brother; and oh yah, we are such a diva.  Child always, and I mean always wants to be picked up.  And not by just anyone, nope.  She's very particular.  Sigh.  She likes to be in the middle of everything.  Although she is pretty laid back in terms of just an easy going baby, she's very particular about ensuring that she's not forgotten or left out. (Of course, that means putting her in the middle of the room around all of us, not just playing with her toys 2 feet away from me.  I tell ya, Diva Ryan.

Less than 3 weeks from her official 1st birthday.  We are planning a small celebration-- of course for her, but also for the fact that we, the Reedy's survived this year and are looking forward to living our new normal.

Pics

Just a couple pics from my phone

Strings

Ryan is doing great.  She is still healing from the surgery.  Funny thing, she gets these strings on the outside of her scars.  Her body (I guess) is rejecting a couple of the stitches.  We took this video about a week ago because the ladies at daycare were a bit concerned as one of her scars on her left side looks a little sore.  So, what do I do?  I take pictures of course.

 Don't you love the close up of the her ear?  See that string?  It looks tiny in this pic, but it's really quite sore looking.  Then, this pic is just plain funny because it looks like there is a dent in her head-- not accurate.  In final pic we were  trying to see if we could get a snapshot of how swollen she seemed.

Then, we are happy with daddy standing on the counter.  Love this pic below.

And, we aren't so happy with daddy holding us upside down.

Anyway, back to the story... that night, I did what any mother would do...no, I did not send the pictures to the ENT, or audiologist, or the pediatrician (partly because the pics doesn't capture what we hoped).  Nope, I took the tweezers and pulled the string out. Turns out, it was the knot that was stuck in her skin.  So I pulled out maybe a millimeter of string with a little knot.  Do not worry-- no blood or puss.  Just a little hole.  With Neosporin and some vaseline, it looks much better this week.  Not so red.

She has a few other little strings, but I'm not pulling those out...they do not look sore, so we'll see what our audiologist, Liesl, says this week when we see her.  Liesl will be letting more sound into Ryan's capacity of hearing this week (definitely not the correct terminology, but you get the point).  We are very excited as Ryan is definitely ready to let in more sound to continue to hear our world.  

Fun times in the Reedy household.

Checkered Flag, Here I Come!

Checkered Flag, Here I Come!

If I was keeping a baby book, that line would have glitter all over it.  A few days ago, Sean and I are standing near Bryce, putting on a shirt to start his day.  All of a sudden, in the midst of a singing/dancing silly rendition of a crazy two-year old being himself, he yells out 'Checkered Flag, Here I Come!'.  Of course, it took us a good 5-seconds of Sean and I looking at each other in a confused state until Sean realized what he had just said. 

In the now Reedy-household famous line, Bryce quoted Lightening McQueen, from the movie Cars.  This was not a line that is even emphasized in the movie (we had to watch it again-- I lost count on how many times now we have watched it-- to find exactly where McQeen caught little Bryce Martin Reedy's attention).

I have to say, that as he gets older each day, each day I miss his baby likeness, while cherishing the cute little boy (all boy) he has become.  He is soooo into cars, and trucks, and planes, and boats, and dinosaurs, and guitars, and legos, and sports balls, and golf clubs, and super heros.  It's a bit overwhelming when I think about it.  Gone are the days that he likes the cause-and-effect toys (ones that Ryan is just learning) or is interested in what is inside the cabinets.  Gone are the days when he ate Rudy's dog food.  Gone are the days when I could dress him without his opinion involved. 

As I reflect upon those days, I smile in anticipation of what is happening now, and what is to come.  He's learning to 'run fast' and he's learning to identify all the letters in the alphabet, and he's learning how put a golf ball, and he's learning how to catch a football (without flinching).  And, very important, he's learning how to hang on the monkey bars and how to swing on a swing by himself. 

With all these learnings, unbeknownst to him, Bryce has high expectations as an unintentional teacher.  Bryce will be teaching Ryan language.  As he is 'reading' his books, Ryan listens (yes, listens!).  Ryan will be learning a ton from her older brother as she begins her journey to language development.

That's all for now, more updates on Ryan next time.

First Sounds

On May 23rd, as previous posts have stated, Ryan received her Advanced Bionics Cochlear Implants.  These two videos are awesome-- they capture her understand that there is sound.  

This one was Thursday evening.  Bryce loves to make Ryan laugh-- this may be the biggest belly laugh Ryan has had.  So fun.

This one is her watching and listening to her favorite 'hopper'.  She was having so much fun.

Our weekend has gone pretty well.  Besides the fact that we may have a faulty CI (or it could be user error) it has been great.  We'll get that straightened out this week when everyone is back in office, as we can't get ahold of anyone anywhere since everyone is off for the holiday.

Ryan does excel at knocking her CI's off though-- not sure if she doesn't like the 'sensation' or whether she is just annoyed.  More to come on that as we continue to make progress this week.

Initial Stimulation- For Real

This was Ryan's very first stimulation of the very first electrode.  Our audiologist, Liesl, was 'testing' each of the four electrodes within each ear.  This was the very first electrode on the very first ear.  Note, that she actually cannot hear anything, it's literally a stimulation.  Ryan probably feels some kind of sensation, hence the response you will see...it's priceless...

Video: Cochlear Implants Initial Stimulation

So, because I'm posting this from my work computer, I could only send one video to be uploaded here.  I'm actually unsure of how this one got through on our email, but it's the best one we have.  (Our work restrains all videos-- or I guess, most videos...)

To say the least, we are super excited.  She is having so much fun with everyone these days.  (As per usual, but now it's amplified, no pun intended.)  As soon as I get to my personal computer I'll post more videos.  Sean took a lot.

She does pretty well most of the time, but I do think that some of the time she really doesn't like having it on...but she'll eventually get to the point where she'll want to wear her Advanced Bionic Neptunes all the time...