Tuesday, March 25, 2014

Feeling Frustrated

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It isn't often I put down frustrations on here - but I'm feeling a bit overwhelmed with them right now.  Back in the update for Emmalina, I posted about how we were having an OT out to evaluate her sensory issues.  I sat with the OT who basically did a sensory evaluation by asking me questions and very little observation (NO interaction) with Emma.  At the end, she told me Emma is a sensory seeker but seemed to be self-regulating so her issue were not affecting her everyday life.  She did not recommend any therapy to help.  It was mostly what I expected to hear so didn't think much farther on the issue and began the process of attempting to remove her from EarlyOn.

A few weeks later, Mr Awesome and I were discussing removing Emma's pacifier.  She's pretty attached to it, but not in a normal kid kind of way.  I feel like it is oral sensory for her which concerned me to just cold-turkey pull it without a replacement.  We did that with Ayden before we understood and even to this day have problems with him chewing on his clothes, hands, blankets etc.  It took almost two years to successfully direct him to a chewy tube and even now we have to remind him.  I do not want this to happen with Emma, thus the email to the amazing FX SLP/OT duo Mouse and Tracy.  I explained about sensory issues, her OT eval and what I was told then what we wanted to do.  Surprisingly to me, their response was essentially that the OT that evaluated Emma had been incorrect.  That a two year old cannot self regulate (even typically developing) and that pulling Emma's binky without a sensory diet in place to "replace" that oral sensory seeking would be exactly what we had happen with Ayden.

Thus my frustration.  I trust Mouse and Tracy without a doubt and they certainly helped as much as they could over email. So our options are then to push EarlyOn to provide OT for Emma or to do it ourselves.  We looked into private OT with Ayden and it just is not an option for us.  Lack of providers in this area, high prices, and no insurance coverage.  Even if we could combat that - there is an 8-9 month wait to even be evaluated.  The OT that evaluated Emma is the only one in our country for EarlyOn which means if I push service I will have an OT who doesn't think she actually needs it and will undoubtably not be very helpful.  

I decided that maybe it would be smart to get Emma an appointment at the FX clinic.  I was hoping that we could piggy-back her onto Ayden's upcoming appointment in May since we go to Chicago - but upon contacting them they just can't fit both in.  Our earliest date for her to be seen is in August.  This was not unexpected nor am I mad at the clinic (they are amazing), but is still just another thing.

Through all of this, we are also running into problems getting Emma OUT of EarlyOn.  They aren't helping us at all, so no need to be in it.  Yet they keep making excuses when I try to take her out.  We should finally have all the needed information soon and then hopefully that will be the end of it.

So, we are left with figuring it out ourselves.  It isn't all bad, but it is going to be trial and error and we will undoubtably make mistakes along the way.  My consolation in all this is that the sensory issues aren't that bad.  They aren't affecting her life much right now, and maybe won't ever.  I'm just so frustrated with the way this is working out.
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Thursday, January 23, 2014

Update on the Family Part 3: Issac

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This should be the easiest of my updates, no worries about any developmental issues!  Right now though, this little guy is my most difficult child.  He is mouthy, stubborn, strong willed, bossy, confident, and exactly a perfect mix of his mom and dad.  You know that kid your parents always tell you they can't wait that you have - Issac is mine.

The daily grind with Issac usually consists of him bossy his brother and sister around, a lot of tattling, and a lot of telling mom and dad how he thinks life should work (and pouting when it isn't the way he thinks it should be).  In with all that though, is this little boy who has an immense imagination.  He loves to draw, make up adventures, make/create new games...I listen to him and am just in awe of what he creates.  And he loves - oh does he love.  He has the biggest heart of most any child I have ever met.  Developmentally, he is like a typically almost-five-year-old.  He is more than ready for school academically and ready to start kindergarten in the fall.  Socially he will have some catching up to do once he does start, but I doubt that will hinder his learning.  He can do most of Ayden's first grade homework so if anything he be a little bored which will give him adequate time to work on social interaction.  Really though, totally typical for this age.  It will be much more of a struggle for Mom to send him to school and be without him for a full day!

This a very short update for Issac, but I didn't really want to leave him out.  It is odd having my non-fxer sandwiched between my two FX kiddos.  He teaches us how to be parents a lot (because we don't get feedback from Ayden) so in some ways he has the duties and responsibilities of our oldest child even though he is not.  I imagine the balance between those responsibilities and still being a younger brother will be something that we try to keep in check most of his life.  For now, we mostly have it though it will change and adapt as our family does.
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Tuesday, January 21, 2014

Update on the Family Part 2: Emmalina

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I was looking back over posts to figure out when my last update on Emma was, and found most of my recent posts had been about STX209.  So we'll start fresh today!

Emma will be two in about 2.5 weeks.  As you know from reading previously, we have had her in early intervention since about 6 weeks old.  She started with just physcial therapy and a general developmental specialist.  At 10 months we added in speech therapy and dropped physical therapy.  Now, at 23 months old we are doing one final evaluation for some sensory issues with an occupational therapist and as long as everything is fine we will be dropping all services.

Needless to say, developmentally, Emma is doing fantastic.  I don't know her exact age ranges for all the different areas but for speech she is around 24-26 months.  Her vocabulary is huge right now and she is making small sentences.  We are having her fine motor checked out with the OT coming, but while that is lagging a little right now I believe this is just due to her language exploding.  She has consistantly been ahead in one area and a little behind in one then will catch up in a month or two.  It almost always worries me, but she always catches right back up.

Our areas that have small concerns are sensory and anxiety.  She very obviously has sensory issues, but I'm not sure how severe they are.  (the reason I am bringing an OT in).  They manifest very differently than Ayden's issues.  He has tactile defensiveness, but also craves deep pressure. Emma does not like deep pressure and often will crave vestibular input (like spinning in circles, rocking in a chair, or hanging upside-down).  She doesn't want these all the time, but you can tell when she is upset she asks for those things.  She has aversions to loud noises like the vacuum and the food processor too.  The other difference between her and Ayden is that she fights and often overcomes any aversions she has.  We had to teach Ayden to calm himself and help himself work through (which he still does not do well) but she understands on some level how to do it.  All these sensory things are tied to anxiety as well.  She presents as very shy, but I can tell it is more anxiety of going up to a person.  For example, we can tell her to go hug someone and she will hang back and act as though she can't walk forward until they put their arms out - then she runs into them.  She doesn't talk much around people she isn't around often either.   All of these things I mention can be typical kid things, but together and because she does have Fragile X I believe they are more.  What I'm not sure of is if she needs any therapy to help with it.

In the coming month we will have an OT evaluation from EarlyOn, then she will have a full evaluation at our 24 month visit to UNC and also her evaluation from the team at USC (two research studies we are involved in from when she was 6 months old).  We also will be getting her FXS test redone with the more sensitive testing to find out her AGG repeats and methylation percentage.  The new test is part of one of the research studies (I will also be re-tested).  For now, it is nothing more than good information - but going forward (into family planning years) it will be good for her to have.  You can look for updates on all of our research studies over the next few months.
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Friday, January 17, 2014

Update on the Family Part 1: Ayden

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I've taken a long hiatus from the land of blogging.  I feel like there is not a lot to say most days that isn't a repeat of what has been said already.  I am inching in on three years of blogging here.  Yikes.

I want to start posting more.  Our life and how we live with Fragile X changes so often, and keeping up with that for newly diagnosed families is important to me.  I want to continue to be a springboard into the lives of those that are just hearing Fragile X Syndrome for the first time. Even for those whom are facing other diagnosis dealing with just overall developmental delays.   So today I move forward and attempt to do that, but first let me update you on the family happenings starting with Ayden.

Ayden is now six and a half years old.  I have yet to have a day pass where he does not surprise and amaze me - even moreso lately.  His language took a huge turn for the better over the past month and he is talking up a storm.  Not many sentences yet, but sometimes phrases and other times single words bunched together to get his point across.  This morning while waiting for the bus, Mr Awesome went outside to take the garbage out.  Ayden was watching him and said "Bye-bye Daddy!".  I explained Dad wasn't leaving yet, just taking the garbage out and he said "Leave.  Daddy no-no.  Leave.  Ayden.  Bus."  Not sentences, but he certainly is getting his point across.  I find myself having conversations with him lately where he is giving his opinion MUCH more often.  Mostly though, he is narrating the world around him.  It is beautiful and wonderful to watch him learn that his words have power.  I favorite (though I say favorite for lack of a better term) word to say is "Nope".  He uses this quite often when we tell him to do things.  It makes it much less difficult to tell the difference between him being obstinant and over stimulated.  Sometime I will catch it on video!

Academically he is doing well.  We would always prefer more, but we (his team and family) are all working hard to move him towards his goals.  Reading and writing have progressed the most since school started.  I haven't spoken with his teacher specifically recently but I feel he is close to on-par for his peers right now in reading.  The writing will come eventually.  Math is our problem area and biggest focus.  Somewhere between school ending last year and starting back up he stopped understanding 1:1 correspondence.  This is a key component of math.  (Side note:  for those that don't understand what 1:1 correspondence is - an easy way to explain it is the ability to understand when you have five ducks and wnat to count them that each duck is one duck.)  This has quite obviously set him back a little in math.  I think we have regained that ability, but not enough to start simple addition yet so we are falling behind in math.  Although not unexpected, it is still hard to see him struggle.  

Socially we have also seen many improvements.  Ayden really loves being around his peers and his friends.  Now that he is learning to communicate with words it is just even better.  We had some problems with hitting at the beginning of the school year where he would hit his friends (and/or teachers) if he didn't like what they were doing.  Many incidents where a peer would be done playing with him and he would hit them because he wasn't done.  I think we have moved beyond that (thankfully) especially as he has learned "Nope".  We are more than blessed that he loves his friends so much - it is certainly what is making inclusion in the gen ed classroom work so well for him.

There really is just so much happening with Ayden that it is hard to put it all down.  I do want to add one last thought though.  As his language is emerging more, so is his sense of humor.  We have always seen glimpses of it in the way he goofed around, but now it is amazing!  He can tell you what he is laughing at most of the time and often will just make silly jokes to make US laugh.  After six years, you become accostomed to communicating with your child in a certain way, and then the game changes.  It is just pure joy to see.  I often catch myself watching and listening to him with just tears in my eyes.  He has come so far and we are so very thankful.

And in case you missed it...Ayden was the face of the NFXF Annual fund this year.  VERY awesome to see his face everytime I visit their website.  I love being a part of an organization that is so close to my heart.  http://www.fragilex.org/support-the-nfxf/annual-fund/


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Tuesday, October 29, 2013

One Year Later - Reflections of STX209

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It was a year ago today that we made our first trip to the Fragile X clinic at Rush for the beginning of the arbaclofen trial.  I have such mixed emotions today.  I can't forget the amount of hope I had for those little pills.  I remember how I stared at Ayden each day watching for anything different.  Then I slowly saw my baby emerge from the fog of anxiety he was living in.  One year ago my baby was barely saying fifteen words.  They were never spontaneous.

Today, he greeted me by name.  Told me what cereal he wanted for breakfast.  Asked for a different shirt.  Told me he didn't want to wear his hat to school.  (which at this moment I realize he actually managed to pull off!).  He also gave me a hug and then told me bye before running to get on the bus - where of course he greeted his bus driver.

I of course wonder now if the arbaclofen jump started his language or if it was just coincidence that we started around the same time he had a developmental leap.  My gut tells me it was a little of both, but in the long run it doesn't really matter.  We have been off arbaclofen since June 9.  In late July we started on sertraline and while it isn't as good as arbaclofen it is an acceptable alternative.  He still has a lot of anxiety and it doesn't really help his sensory issues, but that is okay.  For now, it's the best we have.  Had we not seen what arbaclofen could do for him already, I'm sure I would be totally happy with this.  But I have.  So it is hard to be happy with a 'second best' and why I feel like my emotions are so jumbled.  I want it back for him.  It all just feels so unfair still.  Even with his progress and how amazing he is doing - I wonder how much better it would be.




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