Friday, April 27, 2012

Physical Therapy

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Emma started physical therapy yesterday.  I am having a hard time wrapping my head around the fact another of my kids is in therapy, but I know it is for the best.  Our PT is pretty awesome.  I really liked her from the start, and after our first session I like her even more.

We started Emma on some exercises to loosen her legs and trunk area where she is having high tone issues.  It's not terrible, but the exercises do help.  We do a few reps after each diaper change (though I may start before so we don't have so many poops in a clean diaper!)  Just the few times we did them yesterday had me noticing an improvement in her flexibility.  This morning was a definite improvement in just 24 hours.  Plus, she loves it, of course it's just play time to her!  So we continue...and hope her high tone gets better and will not be the cause of any developmental delays.

The other thing we talked about was different ways to work on tummy time and getting rid of her preference to look to the right.  Mostly we just need to encourage her to use her left side and stay off the back of her head as much as possible.  I'm sure it will work out, it's just frustrating to have yet another thing.

The PT did do a full check of her neck as well.  I was a bit concerned with her tummy time hate that maybe she was a little tight there too.  Of course my concern was for nothing.  She has full range of motion in her head/neck area and isn't tight at all.

We also talked a little yesterday about this shaking that Emma started doing as well.  I noticed it probably last weekend the first time.  When we sit her up, either supporting her or in her bumbo her head and/or hands shake.  She's completely responsive and has no change in demeanor, plus the movement is not rhythmic so it isn't a seizure; however, it is something we need to watch.  I was glad the PT saw it happen and it wasn't just me explaining it to her.  Most likely it is just her developing and using her new muscles more which is common in babies.  It has only happened when she's doing things that are difficult for her such as sitting or holding up her head/moving it around.  I'm beginning to track it though just in case and will probably get it on video as well - again just in case.  Things like this can be neurological problems like seizures or tremors, but they can also be normal. (such a wide range!)  By tracking we'll know if there is a pattern or if we see an increase in frequency or duration.  No matter what, we'll definitely be bringing it up with the pediatrician at her next visit.


Tuesday, April 24, 2012

IEP Season

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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.

Thursday, April 19, 2012

EarlyOn - Take 2!

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I couldn't help but have flashbacks back to 2009 as I was waiting for the EarlyOn team to come and do Emmalina's initial EarlyOn evaluation and IFSP.  I tried not to think about it much, but those were some rough times for this mom.  For me, our Fragile X diagnosis came during those initial evaluations - not in the form of a southern blot test performed two years later.  The whole process of acceptance was just out of order for me I guess.  Denial certainly came first, but by the time we had contacted EarlyOn each step in the process just made it more of a reality.  I spent much of the evaluation and early treatment for Ayden grieving and feeling guilty. By the time we actually had the genetic testing done the only thing it did was confirm a diagnosis we were already certain of and give us his count and methylation status.

I guess it's no surprise I was a little anxious this time around.  I already had a diagnosis, I knew how bad these evaluations can feel.  So it was pleasantly surprising to come away feeling like we are in a good position.

Good news is this:  Emma does not qualify for EarlyOn services based on delays.  She is actually at or advanced for every single milestone "tested".  It put my mind at ease quite a bit just to see all those boxes being checked! (some well into the 4 month categories even)

I'd say now for the bad news, but it's not bad...just not good.  Maybe 'other' news is better.  We just have a couple areas to watch.

1)  Emma has high muscle tone in her legs and trunk which can be worked through fairly easily and really is not a cause for concern, at least not yet.

2)  She also has an issue where her knees don't fully unbend.  It's slight, and usually corrects itself according to the PT - just another area to watch as she grows as well as do some exercies to help out.

3)  The last thing is kind of a couple things that are mildly related.  I noticed Emma favoring turning her head to her left side a week or so ago.  When I noticed I started trying to get her to turn to the right, but she really hates it.  Ayden had the same thing, which is probably the only reason I noticed it.  We just encouraged him to use his left side and it was better in a month or so.  She also has a nice flat spot on the back of her head, which could be related to her favoring her left side but is more than likely due to her hating tummy time.  In short, we'll be working on different ways to do tummy time (with the help of the PT) that make her not scream and cry which hopefully will help correct all three of these issues.

Overall, a very promising visit despite the few areas of concern.  We start PT 1-2 times per month beginning next Thursday.


Wednesday, April 18, 2012

Minocycline Update - Week 3

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Week three of the minocycline has come and gone.   Not much new to report this week, we're really seeing much of the same.  The initial boosts we saw the first week or two seem to have tapered off, but the results are still there.

Ayden really is doing a fantastic job communicating with us.  It's not exactly the speech we were hoping to see, but he is trying and that is more than before.  We went through a small phase as we do with any time he starts to communicate new ideas where he would be frustrated with us not understanding him.   That phase was much smaller and quicker this time though for the amount of communication we received out of it. Probably the best communication that has emerged lately is that he is using the sign for help much more often, and to tell us when he wants to help with something as opposed to when he wants help with something.

The other thing we are seeing much more of is a change in his play habits.  Where he started off by not fixating on certain toys as much, he has now moved into playing with toys that don't make noise or spin and playing with them correctly.  I am continuously amazed at how he is advancing so quickly especially in this area.  There is no doubt in my mind this is due to the minocycline.  The chance it may be coincidence that it has lined up with  him taking the medication is just too small.

I'm not sure what my expectations were going into starting this medication for Ayden, definitely we were hoping that speech would advance.  I certainly did not expect to see the advances in play we are experiencing though! Ayden continues to amaze me each day with the changes however small they may be.  It's difficult to explain the joy at seeing your son play with a toy correctly without being forced to.

I'll continue to update as we progress.

Tuesday, April 17, 2012


With so many changes at home, I figure it's a good time to update the look of the blog a little too.  I still have a couple things to add to "complete" the change, but they are small and really not super noticeable unless you're looking.

Please leave a comment and let me know how you like it or if there is anything you'd like to see added.  I know    most people that read don't leave comments, but maybe just make an exception this time around.


Monday, April 16, 2012

What Does It All Mean?

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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.


Friday, April 13, 2012

A New Reality

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"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.


Tuesday, April 10, 2012

Minocycline Update - Week 2

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So, we're now inching into week 3 on the minocycline.  I'm noticing two pretty big things happening with Ayden.

First, there is certainly an increase in the type and amount of sounds coming from him.  His humming that he has done forever has turned into a mix of sounds/babbles and humming all mixed together.  He will look at you and babble away as if telling you something, but it is usually not able to be understood.  Along with this is also an increase in communication.  He's trying so hard to communicate with us outside the bounds of just normal wants/needs.  I noticed him approaching two people in conversation multiple times over the past week where he was following the conversation back and forth.  I've even noticed he has moved away from just requesting his preferred items to requesting any item he can - and finding unique ways to request the item if we happen to not have a card available for what he does want.  These are all fantastic leaps for him, and within the course of two weeks makes me extremely happy.

Second, we are beginning to see him playing with toys and items in not such an obsessive manner.  He's been very good about switching between toys/items even when they are his preferred items much more quickly than normal.  He's also finding interest in toys that aren't just his normal types of toys quite often.  He still sticks with toys that spin, move, or make noise for the most part but seeing him pick up and action figure has not been outside the realm of possibility recently.

As an update to the observations last week, the sleepiness has definitely worn off.  I'd put that in the category of either just adjusting to the medicine or his allergies/cold he had going on.  The increase in stim behaviors also seems to have diminished as well.  He's back to his humming at a normal level (though as I mentioned, the humming is mixed with babbling now), the flapping is less than normal but more than last week, and the rocking seems to have disappeared altogether.

With him back to school this week, I'm going to be very interested to see if his teachers notice any changes as well.  Until next time...

Tuesday, April 3, 2012

Occupational Therapy Eval

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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.