Thursday, December 27, 2012

The Moment

I have this moment that I remember very clearly from when Ayden was an infant...  We were helping my younger sister move from her apartment, and I had offered to take my niece (my older sister's daughter) overnight.  Her and Ayden are about five weeks apart.  So I'm sitting there in this apartment filled with boxes while the guys are packing up and playing with my niece and Ayden when I clapped and said "yay!" for something she did and she looked at me and clapped right back.  It wasn't something new for her, but it was the first time I had seen it.  It was in that moment that I remember clearly knowing that all those little things I had worried about the past few months with Ayden were a problem.  The moment I was sure something was wrong despite the fact I kept being told his development was normal by doctors, friends, and family.  I waited another year and a half from that point until Ayden clapped the first time.  So, I'm a the whole clapping issue.

I started trying to get Issac to clap when he was just three months old.  He finally did it around six or seven months and I breathed a huge sigh of relief.   I still remember the exact moment he did it.  I started crying and he just looked at me, then he started to cry too - which of course made me laugh.  I'm sure he'll love this story when he's older.

Then there is Miss Emma... as with Issac, I started working on clapping with Emma very early knowing with Fragile X we were looking at the possibility of some large hurdles in the fine motor skills area.  When she was around six months old, I received a video of one of my good friend's daughter (who is just a week or so older than Emma) clapping away.  I think my heart broke into about a million pieces when I watched it.  It was that surreal feeling of being so incredibly happy for your friend and so devastated for yourself at the same time.  I just struggle with this diagnosis so much still, and the fact that Emma is developing normally thus far is amazing but I am still waiting for delays with each milestone.  I'm so afraid to be excited and enjoy this time because if we do start seeing delays it will be like she is being diagnosed all over again.  There are parts of this life with Fragile X that are not easy and can easily consume - and this is one of them for me.

But despite my ramblings of my crazy issues with clapping, this story is not one with a sad ending.  On Christmas Eve Emma decided that she would clap for us.  She was just sitting there and got excited and clapped like she had been doing it forever.  Two tiny hands, helping to heal a wound on my heart from long ago and one Christmas made just a little bit brighter.

Edited:  Added a short video, it's about all I can get her to do when I'm recording!


Wednesday, December 26, 2012

STX 209 - Update 3

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I know this post is crazy overdue...but other things keep requiring my attention this holiday season.  Now that it's almost over and I have a few minutes to breath..(who am I kidding there?  I never have time to breathe!)

My last update was in mid-November, almost six weeks ago.  We have been on the "maintenance" portion of the trial for a while now.  This means we have been on a steady dose of whatever level of drug (or placebo) we were assigned to in the randomization.

Behaviorally..Ayden is doing okay.  It really depends on the day.  I can say without reservation that there have been changes.  His good is much better.  He is more functional and anxiety is very much decreased from what it was when we started.  The flip side of this is his meltdowns - when they do occur - are terrible. We've seen many more instances of throwing himself on the ground, slamming his head into the wall, throwing materials at school, and hitting himself in the head.  We've randomly seen all of these issues come and go with Ayden, but it is every time his anxiety gets bad or he is frustrated that we see them now.  None of it has harmed himself or others but it's very difficult to watch.   I was looking forward to starting to wean him off the drug for this reason, but our appointment was rescheduled due to weather so we have another week still before we start the weaning process.   I personally believe he is on too high of a dose (though we have discussed the possibility he is on too low of a dose as well) so getting into the extension will be interesting.

As far as speech goes, we are progressing.  Since my last update on the trial we have added more words and also sound isolation/imitation.  This is perhaps the most exciting to me of everything we have seen.  Ayden has been in speech therapy forever, but without even attempting to imitate or isolate sounds speech therapy doesn't do much good.  I very much understand it just could be time for this to start happening for him and the fact we are in the trial could be coincidence - but I just don't think it is.   Time will tell, though!

My next update will be during or after the weaning process.  If he has been on the medication this entire time as I think he is, we should notice some significant changes back to old behaviors.  Here's hoping I keep my sanity the next month or two as we transition him off and then back on again for the extension.


Wednesday, December 19, 2012

2012 WEGO Health Activist Award Nomination

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I was nominated for a 2012 Wego Health Activist Award in the Advocating for Another category.  If you would please take a few minutes to "endorse" me I would greatly appreciate it.  I would love to see Fragile X get more recognition, and these seems like an awesome way to do it!  Anything that brings more awareness to our community is great news for all of us living with Fragile X and especially for those that are not yet diagnosed and struggling for answers.  You can click on the green "Endorse Me" button below or on the main page.  Thank you SO MUCH for your support.

Learn more about the Activist Awards here:  Wego Health Activist Awards


Monday, December 17, 2012

Twenty Acts - Making Sense of a Tragedy

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I've lived through so many horrible, senseless tragedies, but none that have just shattered me as this most recent one.  I found myself glued to the computer and updates as the story unfolded.  I read the first report of an entire kindergarten classroom unaccounted for and the tears began.  Little kids, the same age as Ayden...and by all account more than likely not survivors.  By now, we know this to be true.  That twenty little kindergartens and first graders left for school that morning and never returned home.  I struggle to make sense of this, to comprehend how anyone would be able to enter into a place - especially an elementary school - and look at little angels such as my Ayden and shoot them.

And this is how we as people cope.  We find a way to relate these things to our own lives so we can better understand them and then deal with them in our own way.  For some, it's by speaking out for things that we think caused this to happen.  Debates such as gun control and prayer in school are littered across the news and internet.  Individuals who feel they can "fix" this by taking away guns or giving guns to teachers.  Those who feel that prayer not being allowed in school could change things.  I understand the need to do something, but this is not the way.    To those focusing on these topics, I hope you open your eyes.  I hope you continue to read what I have to say.

Mental health.  People that do things like this have some kind of problem.   The media can speculate on what that exact problem is all they want, but no matter the name or diagnosis given - it does not change the fact that something is not right with them and there should be help before it gets to this point.  How many lives will be taken before this becomes a priority?  How many people will have to do something drastic to cry out for help?  How much longer can we [as a country] ignore this issue?  In a country where 1 in 10 people over the age of 12 are on some sort of antidepressant  what is being done?  I can't answer any of those questions...but I do know it is a problem and does need to be addressed.

Entitlement.  America is just not a group of peoples that promotes caring and love for others anymore - we instead promotes greed and a "me, me, me" attitude.  One where a majority of people think they are entitled to, well, everything without doing anything to get it.  Hard work, sacrifice, and giving to/helping our fellow man are just not the way of this country and to me THIS is where the change needs to begin.   With you, with me, with the countless others who are afraid, upset, and just flat out angry and these tragedies that continue to happen more and more frequently.

And then there is this:

Fifteen days left until 2013.
Twenty little beautiful children to honor.

Our first act begins today... We made a donation to one of the Sandy Hook victims.

Noah was one of the twenty children who didn't survive the Sandy Hook shootings.  He turned 6 years old on November 20, with his twin sister Arielle - who was in  another classroom and survived.  This is Noah's Aunt on twitter.

For others who may be interested....the link to donate to Noah's funeral is here.


Wednesday, December 5, 2012

Speech Video 12/5/2012

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It has been about two months since I made the last speech video for Ayden.  I sat down to make another one today.  We are now at 24 words and able to isolate at least 9 sounds.  Last time I did this on 10/10/12 we were only at 14 words, no sound isolation, and no attempts to imitate.  You may also remember we have since that time started on the STX 209 trial (our start date was 10/29)

I have more to add about STX 209..but that will be another post.  We are in the maintenance portion of the trial right now and will begin the weaning portion around Christmas.

He doesn't do all the words great this go around - partly because I'm rewarding him with M&Ms (forgive his open mouth) and partly because he just didn't want to do it.  Mom broke his routine by making him sit still to do some speaking.  His sound isolation isn't very good here either, school is having much more success with isolation than I am at home.  We didn't hear the /t/ isolation for almost two weeks after school started hearing it - which is why the /a/ and /i/ isolation is almost non-existent in the video (these are new).

Our current words:  Ayden, Mommy, Daddy, Issac, Emma, sissy, car, cupcake, turtle, turkey, oink, gobble, quack, woof, moo, yeah!, bubble, bus, birds, fish, ball, apple, brother, eagle.

Our current sounds:  /b/, /g/, /t/, /p/, /c/, /s/, /a/, /m/, /i/