Thursday, March 10, 2011

Ayden's Story

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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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