So, what in the world has been happening for the past eight months?

It has been a long while since I have posted here.  I figured I'd give a little update on things going on in our world.

1)  We transitioned Ayden from his school and teacher he had been with since Kindergarten (and some of his classmates since he was 3!) at the end of the year.  Change is scary.  Really scary.  We also moved from a traditional calendar to a balanced calendar (basically year round) and moved from special education busing to general busing.  It was a BIG change - and all because Ayden was just doing so well in school he no longer qualified for the program he was in.  So, it was all very bittersweet.  We are now a few weeks into school and it is going better than I could have imagined.  Sure, there are kinks to work out.  Adjustments to be made.  We (as usual) have an amazing team though who continues to work us to give Ayden everything he needs to succeed and continue to push him to meet his full potential.

2) I was invited late last year to take a seat on the Board of Directors for the Fragile X Association of Michigan.  It has been interesting learning the ins and outs of how things run versus my idea of how I thought they ran.  The other Board members are great to work with though and I have been extremely happy to sit on the planning committee for our first conference hosted by our group since the International Conference for the NFXF was here.  We are about six weeks away and in the final planning stages.  Dr Marcia Braden is our guest speaker, one of the Fragile X experts for behavior (many would argue she is the best). You can check it out and purchase tickets at http://fxam2015conference.eventzilla.net/  They are only $25 / person and include lunch - super affordable!

3) (Not Fragile X related) I became completely hooked on a product last year, and ended up signing up to sell it.  On top of my many other roles, I now sell Jamberry nail wraps.  I do it mostly for fun, partly for the product/discount, definitely nice to meet more women.  Bonus:  My nails look amazing.  For real.  Check out my Instagram linked to the right to see some examples.   If you are interested in learning more about them or tying a sample, shoot me an email or check out my business page.  You can also request a sample here:  https://goo.gl/calDPf

4)  My most current addition to our life.  I am not our district representative to the county's Parent Advisory Committee for Special Education.  I am extremely excited about this and the potential to change and make the special education process easier for parents.  I remember just feeling alone and lost when we started navigating the whole process of IFSP, IEP, therapies, and services.  It is a lot and often topped with just learning to deal with and manage a diagnosis.  I think a parent last evening said it best "Sometimes parents are just struggling to get dinner on the table each day, giving them an ear to listen and a hand to help guide is more often than not essential for the whole family."  Helping other families has always been my passion when I talk about this 'world'.  It is why I started this blog in the first place, it has guided me every step with new things I take on (right behind doing everything I can for my own kids).

As you can see, my plate is awfully full.  It is all good and necessary things, but it leaves little time for blogging and sharing.  I will try to update more than every six months though.  And for anyone reading this who needs support or resrouces, please email me or comment here or even look me up on Facebook, Twitter, or Instagram.  All the links are on my page and I would be more than happy to help!



 

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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.

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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.

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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.

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Decisions Pt. 2

As I talked about in my last post, Mr Awesome and I decided early on in our marriage to conceive naturally and "take our chances" with the FX mutation.  Ideally, I should have been tested before we started trying for Ayden.  I know Mr Awesome urged me to quite often, but for whatever reasons I didn't. 

When I was pregnant (still in the first trimester) we had me tested and went through genetic counseling.  The genetic counseling was kind of a joke.  We had a counselor who had never heard of Fragile X even before meeting us, so she couldn't really even answer questions we had very well.  It was discouraging to say the least and left us pretty freaked out.  She basically didn't understand that FX was a spectrum disorder, so acted like it was an on/off switch when you hit 200 CGG repeats as to whether you would be totally mentally impaired or not.

The couple days after our appointment were not good ones for us.  Termination was never an option, but we were both scared.  I felt guilty because I hadn't gotten tested earlier even though Mr Awesome had urged me too many times.  Mr Awesome was angry, and I couldn't blame him really.  I knew his anger was a lot because he was surprised by what the genetics counselor said and also because he too was scared.  We certainly weren't sure how we could handle something like what was described to us.  Our emotions calmed down though, and we knew we were in this together no matter what.  I think we both realized that blaming wouldn't help anyone, and made a plan for what we could do right then - including finding a pediatrician knowledgeable about Fragile X.

You can read Ayden's Story to learn more about after he was born...I won't go into it here again.  What I do know is I wouldn't change a thing.  Ayden is so amazing, and sure he has his quirks but they make him our Ayden whom we are so blessed to have.

The decision was a little easier when we decided to have Issac.  I'm actually not even sure we discussed FX at all, just having another baby in general.  We certainly didn't know the full extent of Ayden's FX by that point in time, but I'm not sure that would have changed much either.  My pregnancy was definitely difficult in the aspect that Ayden's major frustrations and screaming started while I was pregnant.  I remember feeling like I was failing him and just very helpless as to what was happening.  Until we had early intervention come in, we really felt it was all behavioral, afterwards it was easier. Issac was born during this time.

We had pretty much decided by this time that we might have another child, but not more than one.  I didn't have baby fever around Issac's first birthday like I did with Ayden.   I also wanted to make sure that Issac started talking, I was always so scared he wouldn't.  (Of course I can't STOP him now!).  Mr Awesome and I had begun talking about another baby and eventually decided we would rather have them closer together as we planned before.  Two years apart seemed good to us (and still does!).  So we began trying again, only to lose a baby due to an ectopic pregnancy.  Then Ayden was diagnosed. 

We discussed PGD while we were at the FX clinic for Ayden.  There were some statements made to us that were...unsettling....that we had to deal with and PGD came up during that.  It was a lot to process, but we never discussed PGD again after that really.  Essentially, between the cost ($9k-$18k for one round, not covered by insurance) and chance of multiples...it wasn't the right decision for us.  There are processes in which they only implant one fertilized egg at a time, but it is more expensive to do it that way and could take more attempts than normal.  I'll have a separate post discussing PGD later, as it is one of the options for FX carriers

So, now we have Baby Car on the way.  (Did I mention Issac named baby....I think it's sticking too, at least until he has a name).  We're very well aware of the chances of having another FX child.  We will not be doing any prenatal screening, but will be testing baby at birth.  The test won't tell us much, but it will give us the chance to get early intervention for even a slight delay.  If I really think about it, it's scary. If the past four years have taught me anything though, it's to take it a day at a time.  I don't know what the future holds for us...who can? I'm just enjoying life, enjoying this new life growing, and enjoying my beautiful, wonderful family.

I'll be putting together more about carrier reproductive options at a later date, but if you're curious now you can always visit the NFXF web page about reproductive options as well.

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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!

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Orchidometer

The following is a guest post by Mr Awesome, himself.  (Ayden's Daddy)

Orchidometer. It sounds like a tool the Ghostbusters use. In reality here is what an orchidometer looks like:

What are these specialty worry beads used for? I discovered the answer during the doctor's checkup of our oldest son.

First the doc pulls out a stethoscope, I'm familiar with that device, she listens to his heart. Thump thump. Next she pulls out a rubber mallet, still in the know there, she taps his knee and elbows. Whack, whack.

Then she jumps right in to it. "Can I check his testicles?"

"Uh, sure." I mean, she's a doctor right, that's one of the things they do. I've had the procedure done a few times; I'm an old pro at turn your head and cough. So we take off the little man's pants and she starts poking around at his assorted parts. Her gloved hands poke at his junk a little and then she prods his sack a couple of times.

She says, "Looks fine to me." Pants up, rubber gloves off, examination continues.

At the end of it, the doc, the wife and I take a seat at the table, the very small table. Why is it that everyone who works with children sits in those tiny chairs? I understand that it's a place for kids, but for the amount of money we pay in medical bills, buy a regular sized table, please.

There we are, the three of us hunched over this tiny tea-party table and the doctor is laying it out for us:

"This is normal. That is fine. This is normal. I'm a little concerned about this and that."

Then it happens. She pulls out the Orchidomter.

"This is how big your son's testicles are." She points to a round bead with number on it.

It takes a moment for this all to register. Various sized beads, each larger than the next with numbers on them. These aren't worry beads.

This is a ball measuring device. Immature smile creeps to my face.

"His testicles are this big, which is good." Push the giggle deep down.

"They could be this big." she displays a larger bead, cover the smile with my hand. I mean this is serious business.

"But if it were this big we might have a problem." she points to another bead which makes me question my own manhood.

"A lot of guys with this problem have enlarged testicles." Heh, she said testicle again.

"Medical stuff, medical stuff, testicle." She won't stop saying it. Showing us more, even larger beads. Stifle that chuckle.

"Serious medical stuff, more serious stuff, testicle." Damn it, I'm starting to laugh.

She shoots me a disapproving doctor look.

Uncomfortable laughter, "I'm sorry, I just, the beads, it's so..." I'm a twelve year old trapped in a thirty year old body.

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Ayden's Story

I've moved this post to it's own, separate page. I want readers here to be able to see where we were at diagnosis, and maybe be able to offer some hope or guidance to those that are going through the same thing.

Every child has a story, this is Ayden's. It's hard to know where to being, so I'll start at birth, and then continue to age 3.5 where Ayden was at the time of his official diagnosis.

Ayden was our first, my July baby. In some ways things were very difficult from labor on, but in others he was so easy. I had 17 hours of labor with Ayden, 5 of that in active labor. If you really want to get technical, I was actually in labor almost two weeks before he decided to come! He arrived kicking, screaming, and amazingly perfect.

Ayden was a great baby, he only had one minor issue - he couldn't suck at all. Not on a pacifier, not for nursing, not on a bottle. I had a lot of help with nursing, but he just wouldn't latch on so we went the bottle-fed route. Even with bottles we had to go with a special nipple that had a slow-drip for him since he couldn't suck on it. If the nipple was too fast, he would just gag because he wasn't swallowing fast enough. My lactation consultant told me he had a high palette, turns out she was right.

At eight weeks, he slept through the night. We heard "You are great parents!". At four months, he was keeping his weight on his legs and standing up with us holding him. Everyone said "He'll be an early walker" and we beamed. At five months, he made his first sound - said "mama" to get my attention. Our family told us "He's going to be an early talker!". By seven months, he wasn't crawling. He would sit up and just play with the toys around him. He smiled all the time and loved everyone. Wherever we took him we heard "He's such a good baby!" and we smiled knowing they were right. At eight months he started screaming. We slowly stopped taking him places because of the breakdowns. By nine months, he even screamed going to other people. "It's separation anxiety, he'll get over it soon." We believed what we were told. At eleven months he started crawling. Not a little scoot, but full out crawling. It was late, but we were told "He is just taking his time so he does it right!" and we listened. One year, thirteen months, fourteen months, fifteen months... Ayden wasn't walking or talking. "He'll do it when he's ready, look at him cruise around the furniture!" Two days before he hit 17 months, he took his first steps, followed by walking across the room. No wobbly-walk for our Ayden, he was running the next day. We thought "Everyone must have been right, he must have just been ready." At eighteen months, he still wasn't talking. Or clapping. Or imitating. Or coloring.

We contacted our local early intervention group at nineteen months and referred Ayden for a speech delay. EarlyOn evaluated him and agreed, his speech was delayed. He was assigned a speech therapist two times per month. At two, he was re-evaluated and was considered eligible for Part B services with EarlyOn. He participated in in-home speech therapy (SLP) every other week and in-home occupational therapy (OT) once per week for an hour each. He was also to attend the Great Start playgroups once per week for social delays for a total of 2-3 hours each week of therapy. He made tons of gains in OT over the next year. A lot of what the OT did was sensory integration.

At age three, Ayden was transitioned into the Early Childhood Special Education (ECSE) program at out local school. He attends class 5 days a week for approximately two and a half hours a day. He has one teacher, two aids, PT, OT, and SLP during that time (not all of those every day).

I'm trying to coherently put together where exactly Ayden was developmentally from 18 months until now and I can't place dates - so I won't try, but want to put down what I do remember by topics.

Screaming: Ayden screamed a lot around 18 months. That's all I remember him doing at that age really. He was unable to communicate at all and just a very frustrated, unhappy little boy when he couldn't figure out how to tell us what he wanted. His cognitive language has always been on-par with his age (or higher) so that definitely heightened his frustrations. He knew what he wanted, but could't relay that to anyone - thus the screaming. At 3.5 years, it's much better. We have very little actual screaming, (mostly it is just whining) and it only gets better as he learns to communicate more.

Communication: This goes hand-in-hand with the screaming really. Our first 'breakthrough' though was when we taught Ayden what "show me" meant. He would get upset, and we would say "show me" which prompted him to go to the object/thing that he wanted. He doesn't point with a finger still, but with his entire hand. At 3.5 pointing with his hand and rotating it for effect is still his go-to when he gets very frustrated. However, the more frustrated he gets, the more he lacks actually gesturing toward the object/thing that he wants so we often times have to calm him down quite a bit before he can relay that to us. His other form of communication is a few signs (please, more, all-done, and thank-you). At school, he uses pictures (PECS system) to convey some of his requests as well; but we have not yet integrated that into the home. He often relies on things like bringing us a cup when he is thirsty or going to the kitchen when he is hungry instead of the pictures that he uses at school.

Eating: I used to think Ayden was a picky eater, but was told by a dietician that he was not picky for his age at all. He does stuff his mouth with food almost to the point of gagging though, and still refuses to use silverware. We have slowly moved him away from cutting up all his food and he now takes actual bites of some foods, but it really depends on the food in question.

Sensory: This one is BIG for Ayden. He is getting better, but it's been rough. Until last summer, he refused to walk on grass even. He will not touch things with odd textures (and often times will not eat them because he doesn't use silverware and doesn't like how they feel in his hand - the textures in his mouth do not seem to be an issue). We gave him a sensory diet with his OT, and he gets much of the same thing at school now where he is encouraged and rewarded for touching things outside his comfort zone. It has to be done very carefully though, because if you push him too much he's just DONE. Screaming, crying, breaking down fits of frustration done. Sometimes different sounds will set him off the same way such as the fire siren or the coffee grinder. He will slowly get used to them, but it takes some time after that initial reaction happens.

Anxiety: Luckily, this isn't terrible for Ayden. His worst times are at places he doesn't know with a lot of people. We tend to avoid those places/areas or bring along things to calm him when he is at those. Trucks, spinning things, foods he likes...all good ways to bring that anxiety level down. As with sensory, you have to be careful not to push him too far or the possibility of hours of crying can take place.

Emotional: Hand flapping, hand biting, "humming", chewing on cloths, mouthing objects...these are all other things Ayden does based on some emotional queue. As he can't talk to us yet, we have only guesses as to why these activities take place. The best we can figure, he does most of them for either a sensory input or calming technique.

As is glaringly obvious from the above information, Ayden has a good amount of developmental issues. We have suspected FXS for a while now (I am a carrier), but have been weighing the benefits vs drawbacks of the test itself. See, with all his sensory issues, Ayden hates being touched. When people he knows do it, it isn't as bad - but people that he is not familiar with put him over the top. We are also unable to hold him down for any reason without him freaking out. Those reasons, coupled with a 3-vial blood draw, and teachers/doctors telling us a diagnosis would not make a huge difference YET made us very hesitant to pursue testing. The thought was that he would need to be either strapped down, sedated, or both to even have the test done and for us, the benefit of it was just not worth it. We were assured that the services he was receiving at school would not change even if we had a diagnosis, so we decided against it keeping in mind we had a good idea the result would be a positive test.

On January 6, 2011 Ayden turned 3.5 years old. That same night, our family was in a car accident and rushed to the emergency room. Ayden was over the top freaked out, needed a CT scan and x-rays. After almost three hours of screaming, it was decided to sedate him for these tests. Somewhere in the trauma of what was happening I had a 'light bulb' moment and asked them to draw blood for the Fragile X test while he was sedated. Luckily, there were no serious injuries from the car accident. We were discharged late that night to heal, and also await his test results. On March 3, 2011 Ayden was officially diagnosed with Fragile X Syndrome. He is fully affected with an incomplete methylation pattern also referred to as methylation mosaicism.

So many people have never heard of FXS when their diagnosis happens. We were lucky that we had in some ways, it made it easier. I have had a year and a half to slowly mourn the loss of what I had expected our life to be like. I remember many tears over the course of that time, but no time was worse than his two year EarlyOn evaluation. As he did poorly on each test, I slowly came to the realization our life wasn't going to be the same and as the evaluators left that day, I lost it. Choking, sobbing, uncontrollable tears for hours turned into anger. Why me? Why us? Why Ayden? How could I have done this to him? It took a couple weeks to pull myself out of that funk, but I had to pull myself together, and my reason for that was our second child. He was only a couple months old at that time and he needed me just as much as Ayden did. I had to put aside the guilt, the anger, the sadness and just let it all go. It's been almost two years since that date, and merely a week since we got his test results, but I didn't shed tears this time. The thing I had to learn was to remind myself this is all a day at a time. I can't worry about what tomorrow holds because with FXS you just never know. I can't tell you my son will be talking by this time or my son will be potty trained by this date, because I just don't know and no one can tell me. All I can do is rejoice in the fact that God has given us Ayden and know that he was put with our family to make it perfect. Other than that, it's just a day a time.

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