Update on the Family Part 2: Emmalina

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.

Read More...

Update on the Family Part 1: Ayden

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/

Read More...

How Can YOU Help?

I hope you read my post on Advocacy Day.  If not, please take a minute to read this before continuing on with this post as it is directly related.

I decided to do another post regarding Advocacy Day because I want to not just touch on what I did, but what our group was actually asking for.  I'm not going to cover everything, but want to touch on the Acts and give places to find more information about each of them. These things aren't just important and relevant to Fragile X, but also to autism and countless other families living with special needs.   I would like to share this information and then challenge each and every person that reads this blog to submit their own letter to their members of Congress.

Achieving A Better Life Experience Act (ABLE Act)
The purpose of the ABLE Act is very simply to allow for those persons with disabilities to have an account that they can set aside money to help with expenses for living but where they will not lose benefits provided to them such as SSI or Medicaid.  Currently, to receive those benefits there are restrictions on income and a total allowable assets of no more than $2000.  Simply put, the current laws actually discourage anyone with any type of disability from having a job, home, or really being productive, independent members of society if their income would exceed that amount.

If passed, the ABLE Act would become a subsection of Section 529 of the Internal Revenue Code.  It would follow all the requirements of a traditional 529 qualified tuition program.

You can read more about the ABLE Act with these links:

A brief overview of the ABLE Act in 113th Congress
Read about H.R. 647 in its' entirety and see who has co-sponsored it.
Read about S. 313 in its' entirety and see who has co-sponsored it
Current news article about the ABLE Act

Transition toward Excellence, Achievement & Mobility Acts (A Three Bill Package) also known as TEAM Acts.
This is a really big act, and I'm going to make it as simple as possible.  This set of bills would help those with disabilities with the transition from school age to adulthood by re-aligning current federal programs to focus on helping youth become gainfully employed, pursue a post-secondary education, and engage in typical community settings/activities upon leaving high school.

Each parent works hard for their child to be as independent as possible upon leaving high school, a parent of a special needs child is no different except our children often need more help to achieve those goals.  These acts are really just updating older laws in place to encourage those with disabilities to become productive members of society. The original laws it is trying to change were put in place when it was a normal thing to institutionalize those with disabilities, it really is very archaic and not at all helpful to society as a whole.

TEAM Act Overview from NDSS
TEAM Act Summary from Autism Society of Ohio

So now that you know a little bit about these bills...I need your help.  Your voice.  I'm going to make it SO SIMPLE for you.

1)  Find your local Senator(s) and Representative HERE.
2)  Open THIS document and either download it or copy it to a blank email.  Fill in your Senator(s) and/or Representatives name at the top, then your personal information at the bottom - these sections are in italics.  You may also update the first paragraph to personalize it more if you wish.
3)  Print off and mail to your representative OR email them - their contact information will be on that first link you went to.

If this STILL isn't simple enough for you... email me.  cmasters (AT) gmail.com  [you'll have to type that one out].  Include your zip code and personal information and I will prepare the letter for you, then email it back to you so you can submit it.   It doesn't get easier, folks.  Five or ten minutes is all it should take.  Stop only thinking about politics during election years or financial crisis - take action NOW.  When it matters.

These adorable little faces (and the faces of many others affected by a developmental disability) will thank you.

Read More...

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 little...sensitive....to 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!

Read More...

STX 209 - Update 3

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.

Read More...

Parent Teacher Conferences

Our school district is doing conferences a little different this year than normal.  The simple explanation is that the district has a lot of our elementary schools designated as Michigan Focus Schools and this is part of their action plan for 'closing the gap'.  I'm not going into the whole Focus School explanation here - but you can obviously look at the link above if you want.  The idea with the new conferences is that instead of being reactive by having conferences at report card time, we are being proactive.  The conferences consisted of us setting academic and behavioral goals for Ayden to be the focus of this semester.  We also signed a contract that spelled out what the parents and teachers were doing specifically to help the child meet these goals.  It's supposed to get parents more involved and hopefully catch any learning problems for the kids early.

I like the idea, but for us it seems redundant.  We have an IEP in place that is much more in depth than the conference goals were and we actually used and IEP goal word-for-word as one of our conference goals.

The conference did give us some time to sit down with both of Ayden's teachers though and just talk about how he was doing.  We had two conferences - one with the gen ed teacher and one with the ASD teacher (though the ASD teacher was in on both).  We do get daily updates, but face to face is always nice.  We (as always) have issues to work through with him; however, they are minimal.  He is playing well with other peers and making friends in gen ed - which is fantastic.  He is also comprehending the material they are teaching in class and for the most part outputting that comprehension as well.  His ASD teacher is phenomenal at adapting lessons to Ayden's learning style and basically just not taking any behavioral issues from him at all. She's helping gen ed to adapt their materials as well so Ayden can participate like the other kids in his class.  I'm extremely excited to see where he goes as the school year progresses.

The other person we met with was Ayden's speech teacher.  Of course, our main focus has always been speech with Ayden.  A lot of other issues he has will fall into place as his speech comes I think.  It seems likely as many of his issues get better the more he is communicating with us.  As per usual, our biggest dilemma is always figuring out whether his whining is because he doesn't want to do something or because he is anxious.  So, his speech teacher is doing amazing with him.  She is working through using PECS to request things in the classroom from not only teachers but also peers. He's already had one instance where he did request a toy from another peer, which is amazing!  On top of all that, Ayden's speech (like, actual WORDS) is starting to come.  We are up to about 10-11 words that he can say upon request.  Spontaneous use is (as expected) not happening yet - but SPEECH.  She is now working to isolate the sounds he can make so we can start practicing more.  We were hesitant about the SLP after our IEP, but I'm very impressed with her and really enjoy working with her so far (as does Ayden).

So...long, wordy post shortened:  We love Ayden's team he currently has.  They are all on-board with what we expect from him at home and are working very hard to make sure we are as consistent as possible no matter who is working with him.  It's pretty much everything we could have hoped for with where he is at right now.

Read More...

Minocycline at Four Months

It's been a while since I posted anything about how the Minocycline was going with Ayden.  We started at the end of March and now are mid-July - almost four months in.

I can say with certainty that the mino is definitely helping Ayden, just not in ways we totally expected.  In the middle of June, I somehow forgot to give him his medication for an entire week.  Over the course of that week we began to notice behaviors emerging that we hadn't seen in a while.  It didn't click until I realized exactly how long he'd been without the minocycline and put it together with the emergence of these old behaviors that what we were seeing was related to not taking the medication.  Within a couple days of starting the minocycline back up the behaviors again let up.  Very good news, and certainly a reason to keep him on!

Other things I've noticed are that he is really doing well with words and small sentences.  It's hard for him, he has to really work to produce any sounds deliberately - but he does.  And OH is it music to my ears!!  So far we can get him to say Mama, Dada, Ball, Birds, Bubble, Bus, and sometimes Car.  Outside of those, he spontaneously will say Yeah!, No, and All done (but not when prompted).  That's a total of TEN words he can say!!  In addition to spoken word, he also has "signs" for yes, no, all-done, please, more, sorry, help, and play.  Many of these happening after we started minocycline.

In addition to words, he really is attempting to communicate his wants/needs more to us.  He has continually amazed me with showing us and finding new ways to tell us what he wants.  We use PECS at home, but when there is not a card for what he wants he can get very creative.  He wants to be heard, and not just to get what he wants.  You can see him wanting to join in joking more and do things to make others laugh.  It's a joy to see his personality emerging even more than it already has.

So, while the mino isn't a miracle drug, it certainly has been helpful for us.  I feel like no single therapy or medication will work by itself to help him make advances, but a few of them together.  Between school, the work we do at home, and a little help from the mino we really have made huge strides in the past four months.

Read More...

Therapy Wins

We had our bi-weekly physical therapy appointment for Emma yesterday.  It's pretty awesome to hear at the end that she is doing fantastic.  As of 3.5 months, she is still meeting or exceeding all of her developmental milestones.  It's also a big relief.

Each appointment we've had has brought with it a new problem or issue to work on and we've just taken each thing in stride.  But now she's rolling over (tummy to back), enjoying tummy time, smiling, cooing, and just all around doing amazing.  Our PT went over each thing she should have accomplished by 3-4 months - and she's done them all.  She's actually even mastered quite a few of the milestones in the 4-5 month category.  We still have things to work on such as the high tone in her trunk/legs and the fact she extends quite a bit, but these are minor issues and are correcting themselves as we work with her and she grows.

I honestly am so glad we were assigned an amazing physical therapist for Emma.  I can't even begin to explain how much better everything feels when you have people working with your kids that truly care and just go over and above for you.  Ayden's occupational therapist was one of those people, and Emma's PT is one as well.

On another note...we'll be attending Ayden's IEP tomorrow so look for an update regarding him soon!

Read More...

IEP Season

Most people get into April and May and think about how the school year is coming to a close.  For those of us with special needs kids, it's a little different.  It is the time of IEPs and  setting goals for our kids for what we would like to see them accomplish in the next year.

This year is an important year for us.  We have the big decision coming up for Kindergarten.  Ayden is on the cusp really where we can easily hold him in ECSE a year or move him to kindergarten if we choose.  We had planned for some time to keep him in he ECSE classroom if he wasn't talking yet, but life tends to throw you curve balls so here we are more than likely moving him forward into kindergarten.   Here are the things we have to consider.

1)  Ayden is entirely non-verbal.  He has about 5 words, but doesn't use them spontaneously.   He is just beginning to use "mommy" to get my attention, but other than that it really is forcing verbal interactions from him.   He is effective at using PECS in our home, but as far as school goes it isn't as successful.  I'm unsure whether they just aren't pushing as much or if he just is following his normal pattern of difference at school. Either way, he almost certainly will need an aide to communicate.   This in itself is the reason we initially had made the decision to delay entering kindergarten.  We wanted to give him that extra year to get more speech down and possibly be able to enter kindergarten without an aide - essentially giving him as normal of an environment as possible.  While we still would love for this to happen, I think it is naive of us to think even if he starts speaking in the next year that he would not need some help.  I doubt he will just start talking in full sentences.

2)  Ayden has made huge gains socially this year.  He plays with other kids now, interacts, and even attempts to communicate.   We've known for a while that Ayden does much better peer modeling with children that are older as well.  This puts us in a unique position where moving him to kindergarten would keep him with the same kids, keep him as one of the younger kids in his class, and potentially help him continue the social development he has progressed to this school year (which according to the ASD coordinator is mostly on par for his age).  By holding him in the ECSE classroom, we could lose that.   I have no doubt he would make new friends easily as well, but most of his class will be moving up and keeping him with kids that are familiar with him is also a huge bonus.

3)  Our school district has moved to an all day kindergarten program.  This is actually fantastic for Ayden. His current team at school is recommending that we move him to 1/2 day ASD (autism spectrum disorder) classroom and 1/2 day general education kindergarten room.   We also have the option of putting him an all day general education room with para support.  Either way, we can have him in therapies (speech, occupational, physical).  There are downsides to both of these options - and unfortunately the choice we make will also decide which school he will be attending because the ASD classroom is only available for him at one school.

There are a lot of decisions within these three listed and other small things that are all going to impact our decision, but these are the large ones.  Thankfully, I have some great resources that come in the form of other amazing FXS parents via our Fragile X Facebook group giving me advice and ideas.  I probably don't mention this enough, but I'm very thankful for each and every person in that group.  We have about a month until our decision needs to be made for sure and an IEP setup - so we'll see where that takes us.

Read More...

What Does It All Mean?

So, another FXS diagnosis...what does it mean for us?

More evaluations.  More worrying.  More watching.  More waiting.

I've only gone over Fragile X in relation to Ayden, so let me explain a bit again.  FXS is carried on the X chromosome.  Boys have one x from their moms, girls have two x - one from mom and one from dad.  So, Emmalina received dad's good x, and mom's fragile x.  Simple, right?  The complicated part is this:   with girls, they only use one x; however, their body chooses which part of what x chromosome to "deactivate" and which part to use.  So essentially she could have absolutely no signs/symptoms of FXS despite the fact she has it, but there is no way for us to know.  So we wait.  And we watch.  And if there are any delays then we'll deal with them as they come.

And then there are those pesky evaluations.  We have Emmalina's first one this week.  I'm not sure how other states work, but Michigan has this list for their EarlyOn program that essentially guarantees services until age 2 should a child have a certain diagnosis.  Fragile X is one of those diagnosis - so we started the process as soon as we found out.  Our new team will be out to go over the huge questionnaire that is the form these evaluations take at this early age, but most importantly we'll have a physical therapist coming to check her out as that is the one area I'm not familiar with in relation to FXS.

At this age, there is obviously not a lot to be worried about.  We haven't seen any delays at all, so that is very positive.  Looking back, we had a couple red flags for Ayden by 2 months such as his suck reflex and high palette. Emmalina has neither of those things and has hit her other social milestones just fine.  I will worry about her just the same, but it's comforting to know that so far we are on track.

Read More...

A New Reality

"Anyone can give up, it's the easiest thing in the world to do. But to hold it together when everyone else would understand if you fell apart, that's true strength." - Christopher Reeves


I've had days where I felt like giving up.  Where curling up and escaping life seemed much easier than getting out of bed.  I wonder why me and my family were given this genetic disorder,  a  fragile x chromosone that travels silently through generations.  A grandfather with Parkinson's.  An aunt who was unable to have children.  A sister with anxiety problems.  A cousin with autism.  Auto-immune disorders scattered throughout parents, aunts, uncles, cousins, nieces, and nephews.  A child with developmental delays.  And then a diagnosis, one that shatters the reality of so many (or at least of those who choose to acknowledge it).  The diagnosis should be a relief, an answer to the many medical issues.  Instead it turns your world upside-down and forces you to face the reality that what you expected your life (and your child's life) to be almost certainly will not come to pass.  In its place, a new reality is formed.  One that includes words like "occupational therapy", "sensory integration", and "IEP". A reality where you more than likely know more about your child's medical diagnosis than your doctor does.  A reality with more questions than answers.  A reality that is mine.

So I wake each day and make a decision to get up and face this new reality.  One that I've discovered isn't all that bad because despite the unanswered questions and despite the trials we face as a family - one thing remains:  love.

No matter what diagnosis or label or how my children's X Chromosones are built, I love them unconditionally.  I've loved them from the moment I knew of their existence and somehow I love them more each day.  They are the best of myself and Mr Awesome and they (all four of them) are why I am strong.

One year after receiving Ayden's diagnosis, I found myself yet again waiting for the same phone call - but now for my one month old daughter.  This time was different though, we had expected Ayden's to be positive - I would have been suprised if it wasn't - but I was hoping that Emmalina's results were negative.  We had no reason to think either way as she was only a month old but I was prepared for a positive result. I thought I was prepared at least.  I knew when the voice on the other end was the doctor.  Doctors don't usually call with negative results.  Turns out I wasn't prepared.

The most difficult part was being the one to give the news to Mr Awesome.  He came to me as usual to hug me when he got home and I finally broke, unable to even form the words I'd been going over in my head.  Through the tears I got out "the doctor called".  It was all I needed.  He just held me closer and let me cry for a few minutes before leading me over to our sleeping daughter and said the only thing I needed to hear: "Look at her, she's perfect.  Nothing changes that."

And so another new reality begins for us.  One that certainly gives us more questions to which only time can provide the answers.

Read More...

Occupational Therapy Eval

We had yet another occupational therapy evaluations last night for Ayden.  We've been on the waiting list for quite a while for this appointment so it was nice to finally get it taken care of.

Evaluations have never been easy for me.  For those that haven't been through one of these wonderful things, it usually involves sitting around a table asking your child to do simple tasks that tell the evaluator what skills he or she has.  They are looking for the "age" at which the child is testing, so they will start with easy tasks and keep adding more difficult tasks until the correct age is found.  I usually leave these evaluations feeling sick and very disheartened.  It's difficult when your child has delays and you are forced to see exactly how far behind they are written down in hard copy.  For example, at Ayden's FX Clinic visit last year he had an OT evaluation done and in one area was functioning at a 28 month (~2.5 years) level - Ayden was almost 4 at the time.  Words like  "some problems" and "definite dysfunction" litter the pages of the results.  It's not easy, but it's the way things are.  You have to have a point to start work.  You need a delay to get service.  I understand all this, but it still breaks my heart each and every time.

Last night though, was much better.  Instead of walking us to a room with a little table and chairs, we were escorted to a sensory room where the floor was covered in pads.  With a swing.  And trampoline.  And tons of therapy balls.  In fact, this room was off to the side of a larger room that was stacked (quite literally) with all kinds of sensory and physical therapy activities.  The first thing the OT did was put him in a swing, then she started doing those activities I talked about above.  The entire evaluation was littered with deep pressure activities to help calm him down and check his physical development as well.  And Ayden?  Instead of breaking down into a sobbing, screaming, mess by the end because he'd been pushed so much - well, he was running around, laughing, and playing.  Did I mention this evaluation took place over Ayden's normal dinner time?  And that it's currently Spring Break here so his schedule was already a bit messed up?  To put it mildly...Ayden did amazing.  Most of that because of the OT performing the evaluation.

The best part though for me came at the end.  I normally don't even address Fragile X right away with therapists because I get blank stares or those "I am pretending I know what you're talking about " nods.  (I of course bring it up later with hand out materials included).  This OT though..she knew.  Not only had she heard about FX and had a basic understanding of it - but she has actually worked with FX kiddos before.  I about fell over.  Great with Ayden, good at her job (she actually read though the chart ahead of time and did not re-ask the questions we filled out), AND worked with Fragile X before.    I haven't been this excited about a person that was working with Ayden since our Early On occupational therapist.  I'm very excited for things to come.

As for the evaluation itself.  Ayden has picked up a decent amount of skills in the past year and his fine motor is progressing (certainly his worst area outside not talking).   Mr Awesome and I are both very pleased with the progress.

Read More...

Language Update

We have been seeing some slight improvements in language for Ayden recently.  I always hesitate to say anything or get excited about him saying new words because he often loses them after a short amount of time - but here it is anyhow!  Of course each time I hope it will be different and the words will stick around, but I have yet to see that happen.

This time though..well, it feels different.

We worked a lot on getting Ayden to say "mama" since he was making the M sounds so well.  Work like that is always a lot of tears, usually for both of us.  He doesn't like it and I don't like to see him so sad either.  We persevere though, and instead of just saying words randomly this time, Ayden is able to actually repeat the words back to us on command.

Why is this part so important?  Due to the FXS, Ayden has what is called Developmental Apraxia of Speech (DAS).  What this means is that the area of his brain that tells the muscles how to move and what to do to make a particular sound or series of sounds is not fully developed or functional.  This makes retrieving the motor plan for saying a word difficult.  With DAS, frequently a child may be able to produce a sound or word at one time and not be able to say it again when he wants.

Back to Ayden then, he is now able to repeat about 4 or 5 words after me when I ask him, and has another 2-3 words/phrases that he is saying at the correct time, but is unable to reproduce when asked.  For example, he will often say "all done" as he signs it, but when I ask him to say "all done" he is unable to say it.  I'm finding as he is able to speak words on command, following the same beginning sounds seems to be easiest for him when I request a new word.  So we will go over the words he knows, then begin trying to get him to repeat words with similar sounds.  "Mama" "monkey" "man" etc... "ball" "bubble" "bus".  I find he can come close to other sounds when given a word that starts with a sound he is good at.  We'll keep working with him and see where it leads.

I sincerely hope this language jump for him continues and is the start of a new chapter for him.  IEP time is quickly approaching and we will be making a decision on whether to send Ayden to kindergarten or hold him in the ECSE classroom for another year.  It sure would be nice to have a little bit of language under his belt before we make that decision this May.

Read More...

One Year

It's been a year since we had our official diagnosis of Fragile X for Ayden and what a year it has been!  I was just reading through my first post about how Ayden has been developing, and even though I knew he had made large strides it's amazing to see how I felt a year ago compared to how I feel now.  I am not going to dwell much on sadness or feelings from that day a year ago - because we continue to look forward.  Each day is a new day, each task is a struggle in a different way.  Looking back does no good but to stir up feelings of guilt and anxiety for me.  That just isn't how I want to spend these years, they go so quickly.  So...let me go over how Ayden is doing!

Screaming - A year ago, we had minor screaming fits.  Now, I see even less.  We have a decent amount of temper tantrums, but we've found those to mostly be the normal 4.5 year old "I'm not getting what I want" tantrums, minus words of course.  A huge break though for us occurred when we began implementing YES and NO cards for Ayden (via PECS).  He understands these well, so giving a NO card to him and having him throw a tantrum is much easier for us to know how to handle.  It's the differentiation between knowing he's not frustrated we don't understand him and that he is angry because we said no.  Before those cards, it was a guessing game and as we continues to work on dealing with the behavior of the tantrums they continue to get much better.

Communication - As I mentioned in my first post, communication goes hand in hand with screaming/whining/tantrum issues we have with Ayden.  We introduced Ayden to PECS at home over this past year and he is successfully communicating wants/needs via sentences right now - and not just to mom and dad! Just this past weekend, he used his book to request something from his Aunt.  It was such a proud mommy moment!!  We still don't use PECS exclusively for Ayden's communication, but instead use it in combination with some signs and pointing when we don't have a card available for what he wants.  Ayden's understanding of communicating though is so much better.  He will figure out a way to tell us what he wants most of the time, even by stringing two cards together that really shouldn't go together, but in a way that we understand them.  He really has made some fantastic strides that keep both him and us infinitely happier.  As of today, he can also say some words "on command" which is also a very big deal for us.  We've seen words come and go, but never was he able to say them when requested or in response to questions.  We're hoping this time it sticks around.

Food - we still struggle with Ayden on mouth stuffing a lot.  I've tried a decent amount of the "tricks" for FX kids with this issue to no avail.  Same thing with silverware - with the exception being he CAN use silverware now (though not perfect) but refuses to most of the time.  We're hoping that with the use of silverware the mouth stuffing becomes much less prevalent.  He is also beginning to explore even more foods, and eating like a growing boy.  He certainly can pack food away!!

Sensory - We have slowly worked on sensory issues over the past year, and it is helping!  He still has pauses at  walking on different surfaces, but he actually will do it.  We also have successfully use a few exercises to calm him down with the exercise ball as well as the use of a bean bag chair.  It's not perfect, but it certainly is manageable.  Most of the time, he will at least attempt to do what we ask him now without much prodding (or bribery!).  In turn, he's found a decent amount of things he likes doing.

Anxiety - While we've never had terrible anxiety issues with Ayden, the situations where his anxiety runs high have become SO much better!!  He now will usually walk into large crowds, attempt things that are outside of his comfort zone etc without breaking down.  I can't even remember the last time he totally lost it because of his anxiety at new people/situations.  He also will deal with situations differently.  Instead of screaming, he'll quite often just shake his head NO and turn and walk away.  It's pretty amazing to be around him in those situations because I remember how hard certain things were for him and how he dealt with it.

Social - Here's a new category for this year's "round-up".  I don't even know where to begin explaining where Ayden was socially last year other then to say, socially he basically did no interaction with others.  Mom and Dad have always been a different story..but he was perfectly content to sit in a corner and spin a toy rather than play with other kids.  This is easily the area Ayden has made the most strides in this year.  He now plays with other people (kids and adults) and attempts to interact as well.  He will enter a room and give hugs to familiar people, try to get them to play with him, and has even begun initiating peek-a-boo just recently.  Much to mom and dad's excitement, he also has started participating / initiating some pretend play.  He makes stuffed animals wave/talk which really is just AMAZING.

So..that's my year in review for Ayden.  We have some large decisions coming up in the next few months that I think will really determine the course for him as far as schooling goes for a little while at least.  Essentially, the decision of sending him to kindergarten or holding him in the ECSE classroom - but the decision is much more complicated then that.   I'm very much looking forward to another year of progress and just watching him grow with his little brother and new baby sister.  FX is definitely a part of our family, but it is in no way carving our path for us.  We continue to carve our own path, and do what we can to make life the best we can for Ayden as well as his little brother and sister.

Read More...

iPad Apps - An Introduction

I finally went out and learned how to take a screen shot on the iPad, so now I just need to get it out of Ayden's hands to actually get some screen shots of our "favorite" apps and get some reviews going.  For now, I'm going to start with an introduction to choosing apps to put on your iPad....  Because the most common question I hear from parents of kids with iPads is...what apps?  There are SO MANY out there and many of them have the same type of information just put together in different formats.  So where to even begin?  It can be overwhelming, and even more so difficult to gauge which apps your little one will actually use.  No one wants to pay for an app that isn't going to be used or that is just overall not useful.

For us, the first thing I did was make a list of things we wanted to accomplish with apps.  Communication, colors, numbers, shapes, fine motor, parts of a whole, and overall output of information were top for us.  Once I knew I wanted the apps to do, my search became easier.  The Apple App store is set up fairly well in that you can search for "color" in the educational apps category and get a decent amount of hits.  From there, I looked at screen shots, descriptions, and especially reviews.

Overall, I ended up with about 50 apps to try out.  Of course the real test was seeing which apps Ayden would actually use....so instead of me even opening the apps I just let him pick and choose.  It became pretty clear over the course of a few days which apps he liked better than others, so I started removing apps and then looking for more to fill in gaps.  We repeated this process a few times, and each time I add new apps I just put the app on the iPad and Ayden will immediately gravitate toward new apps.  Sometimes he opens them and is done, but others he adds to his ever-growing list of apps he loves to play.

A great source is the website Moms With Apps.  Not only do they have fantastic reviews of apps, they also have something called Free App Friday, where they review apps and have either discounted or free apps specific to that day.  While this isn't set up for special needs kiddos, it is setup for family friendly apps - specifically to "promote quality apps for kids and families". 

Apps for Children with Special Needs is also a fantastic website to check out as a resource.  They review and have videos of apps specifically designed to help you decide if that app is what you are looking for.  They also have great programs for acquiring an iPad for those that may not be able to afford it.

I mentioned above how I use reviews on the app store to help me determine if an app is good to download or not.  I think one of the most important things we can do to help out other parents is leave reviews for apps - good or bad!  Just make sure you are constructive in why you do or don't like the app and how the description matches the actual app.  "My son didn't like this app" or "This is terrible" aren't going to help anyone make decisions, so be thoughtful and detailed about what you did or didn't like and why.

I'm going to start adding reviews for apps over the next week or two.  I have my list of about 15-20 apps that I'm going to give detailed information on their uses and how Ayden and Issac utilize these apps.  We have a unique perspective in that one child has FX/Autism and the other is on target for developmental milestones - I think it makes for interesting outcomes myself!

For now, please feel free to message me with any questions about apps, and also to leave your choices for favorite apps as well!  I would LOVE to get others input!  You can either leave a comment here, or look for my email address in the upper right hand corner of the blog.

Read More...

4 Year Well-Baby Visit

We finally had Ayden's 4-Year well-baby (child?) visit this last week.  To say it was traumatic (for me) would probably be quite an understatement.  We had to reschedule this visit, which is why it is so late, and ended up having our appointment with the "new" doctor in our practice instead of our normal pediatrician.  We used to have a nurse practitioner at our office as well as our normal pediatrician, but she left back in January and since then it has been difficult to get into the doctor.  It's nice to have the option of seeing someone else if need be, but we will not be seeing this particular doctor EVER AGAIN.

Obviously, Ayden has a decent amount of developmental delays.  Our visit to the FX Clinic back in May included many evaluations and our doctor's office has all those on file.  I know exactly where he is behind, what month he is testing in for all areas of development and essentially more about Fragile X then most people around.  I live it, it's expected.  I certainly don't expect our normal pediatrician to know as much as I do about it, but expect that she will take suggestions I have into consideration and research them if need be.

So, the first thing this new doctor has me do is fill out a basic "What is your child doing?" evaluation.  I've filled out a ton of these, and breeze through it.  I know he's behind, I don't need a test to show me.  I'm a bit annoyed I have to fill it out given the records we have on file, but whatever.

Ayden is doing pretty well at this point as our appointment was during his normal nap time.  He has sat through me filling out this evaluation, made it back to the actual room with the nurse, and had his weight/height taken without too many issues.  Overall, very good for him.  His anxiety level at this point was very low.  I went over the things I wanted to cover with the doctor including finally getting our referral to the speech and occupational therapy programs at Sparrow Pediatric Rehab.  They happen to be the ONLY speech therapy in our area that takes insurance and have a 6 month waiting list which requires a doctor referral.  I also wanted to discuss the possibility of Minocycline and ask our doctor to do some research for me, of course providing her with some articles explaining how it can benefit FX children.  We haven't decided we for sure want to try it, but I wanted our doctor's opinion after she looked into it.

Nurse leaves, new doctor comes in.  He immediately approached Ayden without saying anything to me and touched his face asking what the two marks on it were.  (They were mosquito bites).  My ultra low anxiety Ayden now hits the roof and begins flailing and screaming.  Issac, who hates his brother like that of course tries to help by handing him anything he thinks Ayden would like making it much worse.  Meanwhile, new doctor is talking over the top of screaming - STILL has not introduced himself.  Uh....really?  My annoyance level is now also pretty high. 

I do get Ayden calmed down, fairly quickly for having had a stranger touch him without warning.  Heck, I can barely touch his face with out telling him first and even then he barely tolerates it.  The doctor now says to me...and I want to quote this.... "So, he's autistic or something?".  Jaw. drop.  I expect that from strangers.  I expect that ignorant people.  I DO NOT expect or tolerate that from a pediatrician who HAS MY CHILD'S CHART IN FRONT OF HIM.  I very calmly explain that no, he has Fragile X Syndrome with a dual diagnosis of PDD-NOS and all his paperwork should be in his file.  His reply "So, he's autistic.  Ok." then immediately launches into a lecture about how I need to get SSI for Ayden and other supplemental insurance because I'm doing him a disservice by not having those things available to him.  In the midst of this, he explains how Ayden's Early On teachers are also terrible and not doing anything they should - also tells me we need a caseworker.  Did I mention he still hasn't introduced himself or even asked my name?  I am BEYOND frustrated at this point.  For anyone to tell me I am doing my child a disservice by not taking government money that we DO NOT NEED is beyond arrogant.  To then tell me his wonderful teachers are terrible is just another thing entirely. 

So, frustrated, annoyed, and totally flustered now.  Doctor beings going over the developmental evaluation I filled out.  Tells me Ayden is severely delayed.  (No kidding?  Did you even read the Fragile X stuff in his file, it's pretty detailed).  He tells me Ayden's percentiles which the nurse already went over and then starts checking Ayden out.  Of course this part is terrible, but I instruct him how to do it the best way and thankfully he does listen.  It's never pleasant, but necessary.  I decide while this is happening to totally skip the minocycline talk - I'll have it with our actual doctor later, it's not imperative anyhow.  I do; however, need the referral, which seems like it shouldn't be a problem.  Doctor gets ready to leave and I remind him of the referrals for speech and OT.  In yet another "really, you are a doctor" moment - he says "Why would you need that?"  I am SO DONE by this point, so I'm sure I was rude.  I explained SPR needed the referral sent directly from the office and wouldn't accept it any other way.  He was insistent that the FX Clinic we went to should have done this for us to which I very firmly told him he needed to write it out for us.  He still only wrote up a prescription, handed it to me and left as he's telling me the nurse will be in for vaccinations in a few minutes.  You know, the first time he mentions it at all.  I had no clue, so didn't have time to even ask which ones he was getting.  In retrospec, I should have checked...but I was so flustered already.

Vaccinations are always terrible for us, and Ayden needed a total of 4.  It took 3 of us to hold him and 1 nurse to administer the shots.  It's the first time I've ever cried during shots...it was just terrible.  I know it's needed, but it was difficult this time.  Even with all of us holding him he still moved and got a nice scratch from one of the needles.  Just a very sad end to a terrible doctor visit.  Now...back to the vaccine part - I  rarely refuse vaccination, but I had turned down one that I decided not to have him get.  I can't remember which one it is, but there is one that now covers a new strain from when Ayden has his, so he essentially would be getting an "extra" dose.  I wasn't okay with that, so I turned it down after checking into it at Ayden's last visit.  We put it on the chart, so I guess it didn't cross my mind to double check.  The risk is small, it's not required, and it was an extra dose I just didn't feel comfortable about.  Somewhere in the midst of the chaos that was his appointment, this doctor decided to give Ayden this vaccine anyhow.  Without telling me. Not a happy mommy.  I don't know how it slipped by the nurses, but the damage is done now.  I feel like he probably told them I ok'd it, because our nurses are amazing and have never made a mistake and ALWAYS respected my wishes.

I did have a chat with the nurse after the vaccinations were done.  We were lucky enough to get my favorite nurse, and I politely asked if this doctor would be a permanent addition to staff.  Luckily, he is temporary and only works a few days per week.  We now have it listed on our chart that we don't ever see him.  I of course checked to be sure our normal pediatrician was not retiring with new baby on the way, if so we definitely would look into another office.  Thankfully it's not in the works...and more doctors in our office are.

Now, I'm sure reading this very negative post you realize it's a fairly uncommon thing for me.  I do, in fact, try to keep this blog very upbeat.  This visit was just so off the wall, and not normal.  My reason for sharing is simply to let others know these type of visits DO happen.  And they are most definitely not normal or okay.  No one should ever leave a well baby visit  feeling like this, so if you are then please do yourself and your child a favor and find a new doctor.  I think so many times with insurance we can forget that we are customers and should be treated with respect.  Of course doctors often have to say thing we don't want to hear, but the manner in which they do it and the way that treat us and our children is very important.  I know, personally, we are very thankful we have an amazing pediatrician.  Given the fact the whole office is so wonderful, I doubt it will be long before this doctor ceases to be a part of the office.

Until next time...

Read More...

The Things No One Tells You

Please take a few minutes to read my previous post about Fragile X and comment to enter the giveaway.  I will be randomly choosing a winner on July 22, 2011 - National Fragile X Awareness Day!

I often sit back and wonder what I would have said if someone told me what my life would be like with Ayden.  How the person I was then would have reacted to the news the my 4-year-old son barely said five words.   Or that I would be sending my three-year-old son on a bus to school, praying that he would be okay.  About how we deal daily with screaming, whining, and tantrums that include hitting, flailing, and sometimes even biting.   How the hitting, flailing, and biting aren't always related to tantrums, but often to anxiety or even to extreme happiness. 

I'm not very confident in the person I was before I had children.  I'm not sure I would have handled it well, because I still struggle, especially with patience.  I always knew that being a parent required sacrifice, patience, and lots of hard work.  I watched my mother do all of these things with grace as we grew up.  I just never understood the full scope of those things until Ayden, because how can you?  Some days I feel as though I will fold under the pressure.  I think of the list we have for Ayden of what we need to work on, and I panic.  I can't even being to count the amount of times I just feel like I'm not enough, that no matter how hard we work it won't be enough for him.  I worry that someday he will look at me and tell me I should have done more and that his life could have been easier if I had just done more.

I think every parent struggles with these feelings in some way.  I reflect on all the advice I was given while pregnant with Ayden - because anyone that's been pregnant knows everyone has advice for you!  (Even that lady behind you at the grocery store you've never met before).  I wonder why no one tells you to find what balances you.  To make sure from the beginning that you find that perfect amount of time that you keep for you so you don't feel like you're only a mother, but to remind you that you are also a wife - and more importantly you are, well, you.  I struggle with the balance, all the time. As a FXS carrier, I know I need to be more mindful of this because carriers are more prone to depression. I try to take time for me, but it always seems like there is something to clean, dinner to cook, a diaper to change; however, I find myself happiest though when I do take that time.  Even if it's just taking a long shower after the kids are in bed, it's time for me to clear my head, to refresh, and to reload on the patience I will definitely need for the next day.

Read More...

Research Wednesday - Newborn Screening

Newborn Screening.

Around 48 hours after you have brought your precious little baby into the world, he/she is subjected to the "heel test" which I'm sure most parents remember their little one going through.  These tests are state-mandated and screen for somewhere around 30 different disorders that can result in early mortality or a life-long disability.  While each state tests for different disorders, currently, Fragile X is not on this list for any state. 

You can see the complete rundown for your state here:  National Newborn Screening Status Report

It's important to note, that other developmental delays such as Downs Syndrome and Spina Bifida require no formal screening as they are physically evident at birth.  Further, prenatal tests are offered to families for both of these disorders.  So, why not FXS?  Previously, it was because the testing wasn't as easily available as the newborn screening tests I talked about above.  Currently, the test is about $10 and there are method available to do the test as a blood drop just like the newborn screening tests.  (though, I do not believe this is available at every hospital currently)

Here are a few articles that deal with newborn screening and fragile x:
Should Babies Be Screened for Fragile X? (June 2011)
Discovering Fragile X Syndrome (Feb 2003)
Ethical, Legal, and Socal Concerns about Expanded Newborn Screening (Mar 2008)

Also, a seperate article about newborn screening in general: Newborn Testing

I think that those of us that understand Fragile X and the implications of a diagnosis are mostly in the same line of thinking when it comes to the issue of newborn screening for fxs.  That is, it should be offered as prenatal testing just the same as Down Syndrome and Spina Bifida are.  When it comes to actual new born screening though; it becomes much more difficult to say a firm yes or no, at least in my opinion.

Since this is my blog though; I will share my thoughts.  I think that newborn screening should be mandatory.  I understand that this has tons of implications when a positive diagnosis comes back; however, I do not feel that should be ignored.   Hand-in-hand with the offering of testing and educational materials during a pre-natal phase should leave parents knowing at least a little bit about Fragile X (or at least having the opportunity to know a little) should a positive diagnosis occur.   I will not deny it would be a shock to anyone; however, so would most any other disorder and in the case of Fragile X - early intervention is proven to be very helpful.  My other reasoning behind this thought, is that most children will need early intervention services and as those services are government funded, it seems very fair to me that the test be mandatory.

I cannot positively say an earlier diagnosis of Ayden would have made a difference, and just cannot go there. It really does not good to second guess decisions.  I do know now though that so many things I thought were just quirks about Ayden (some that were very frustrating at the time) were signs of Fragile X and at the very least it would have been helpful for me as a mother to not feel as if I was doing something wrong.

I'd love to hear other people's thoughts on this, especially those that read who don't have FXS children - so please feel free to comment!

Read More...

Annual IEP

Yesterday marked our second IEP meeting with Ayden's ECSE classroom.  I was completely stressed over the meeting, let me tell you!  I'm not sure why I was stressed because we have an amazing team working with Ayden.  I guess this stuff has just never been what I expected, and also this time we were prepared with what we wanted - very specifically prepared.  We received a lot of input from the Fragile X clinic and know where we want to see Ayden, so I worried that maybe his school wouldn't have the same idea.  Very lucky for us, our goals we had setup for him were very similar to what the school had put together as well.

Essentially, we now have a very good plan in place for the summer and next school year - though we will be having another IEP in the fall because of Ayden's autism diagnosis.  Once there is a medical diagnosis, the school has to also do an evaluation to determine services and sometimes the school and medical diagnosis differ. (His teachers are pretty sure it will not be different in Ayden's case though)

I think I'm going to be creating a goals chart for Ayden as another section on this blog...but here is a basic summary of what we are looking at for a year from now.

Summer: 
 - Work on fine motor skills - especially drawing/writing. 
 - Implement PECS at home, shooting for Level 4 proficiency by the end of the summer
    (Level 4 PECS students should be able to construct simple "I want" + "picture" sentences)
-  Begin to use picture stories to help with self-independence tasks that are part of daily routines
-  Begin to use social stories to help alleviate anxiety

School 2011-2012
- Continue to work on fine motor skills.  Be able to draw horizontal & vertical lines on command as well as a circle and square.  Also be able to write his name.
- Continue to advance in PECS to reach Level 6.  This is the equivalent of being able to construct and spontaneously use short sentences such as "I see", "I want", and "It is" as well as answer questions posed to him that would trigger those responses. 
- Implement a visual schedule that includes teaching Ayden that anything on his schedule is unable to be refused. 
- Continue working on taking turns with peers and purposeful play activities
- Teach him how to use wait, break, and help cards as part of his schedule and PECS. 
- Be able to answer yes/no questions with a nod of his head or the applicable PECS card.  He can already shake his head no, but has not started doing it for yes.

All in all, it was a fantastic meeting.  I can't stress enough how lucky we are to have this team working with Ayden.  They are very knowledgeable and helpful but most importantly want to work with us so Ayden can receive the best help possible.  It's more than comforting to know that when I'm sending my non-verbal son off to the care of others that they really have his best interests at heart and push him just as hard as we do at home.

Read More...

Overwhelmed

We're two weeks past Ayden's diagnosis today. The title of this blog says exactly how I'm feeling, but not all in a negative aspect.

I'm overwhelmed first because of the information flow I've been receiving. For those geeks out there, it's much like I imagine Neo felt the first time he was hooked up in The Matrix. Definitely not a bad thing, I want to sponge all this up not only for Ayden, but also for my other family members affected by FXS.

Second, I'm overwhelmed because of the outpouring of support from the FXS community. I am definitely a social networking person - facebook, blogging, twitter - you name it and I probably do it. I have a ton of friends online that I've never met in real life, and some that I met online and HAVE met. I started by adding this blog to the Fragile X Webring and then went to FB. I added at least 10 new people to my friends list just yesterday and had conversations with almost every one. I'm SO EXCITED at how amazing the people are I've met so far and how willing to help they are as well.

Third, I'm overwhelmed because I'm filling out forms for Ayden's FXS clinic visit and DON'T REMEMBER ALL THIS STUFF. Again, not bad, but mildly frustrating. I need to get more organized so I can just go to my files and find the information I forget. (my large stack of papers on my bedroom floor disagrees!!)

On top of all this - I'm planning my other sons's 2nd birthday party, still dealing with some fallout from our crazy January (I SO need to remember to call the insurance company), and oh yes, dealing with what I call a 'developmental spurt' from Ayden. Much like a growth spurt, I find Ayden has times where he will just start doing a bunch of new things at once or as in this case, start understanding a lot more at once. It's great, but in this case causes an influx of screaming, whining, and frustration as he is again dealing with being unable to communicate with us. (for both of us!)

Read More...