Autism: The Day I Heard the News

On December 8, 2015, my whole life changed.  Although I had my suspicions that something was different about Jack, and by the time it came, I almost expected the diagnosis, still nothing prepares you. "Your son is on the spectrum" my exact thoughts were "Whoa....ok...thank you...shit!" I really should say seven days earlier, is when my life changed, because I received a call about his results for the genetic testing they did, he has 17q12 Microduplication Syndrome...."I'm sorry what?" I'll start with the latter, 17q12 Microduplication Syndrome is a rare genetic disorder that most likely or definitely is the culprit to Jack's diagnosis of autism. It is also linked to his speech delay and behavior issues. It can cause cognitive impairment which remains to be seen with Jack, at this point he is a very quick learner, a little too quick sometimes. So I am not overly concerned with his learning ability yet. There are also a slew of other symptoms, that Jack thankfully, by the grace of God, does not have. I have done endless research on this genetic mutation already, and recently found out that it's 1 in 1,000,000 globally, so far. Considering that genomic studies is fairly new in the big scheme of things, I am sure this number will decrease as more research is done, but for now, I like to think that my son is 1 in a million! Of course he is!  For now I'll leave it at that and save the details of my research for a future post.

Most people who meet my son would probably never know he is autistic.  He displays none of the A typical traits for autism. Already countless people have said to me "but he doesn't seem autistic!" Nope, nope ge doesn't, until he does!  He is extremely social, and engaging, sometimes a bit pushy even, once he decides to be your friend.  Jack is extremely smart, show him something once and he can do it, let him watch you do something you don't necessarily want him do and once again he can do it.  He loves snuggles and kisses, and big bear hugs.  His giggles and laugh is contagious! Quite honestly, he does appear to be like any other 2 1/2 year old.  

When I first read the diagnosis, I was a bit in denial. "Jackson is an active and playful 2 year old boy who demonstrates a SIGNIFICANT delay in his overall developmental level." Immediately upon reading this, my momma bear defenses kicked into over drive, how dare they, they don't know my son and what he can do! And then like Niagara Falls, the tears rolled down my face for about 2 weeks.  After reading the report a hundred times, I started to realize that somethings did make sense, behavioral rigidity and restricted and repetitive behaviors do actually explain why my son doesn't like change or me interfering with what he is playing with and that laying on the floor for an hour rolling the same train in front of his face maybe be classified as repetitive. There is no doubt that my son's functional/expressive use of language is delayed, although he talks non stop and has very long and detailed stories to tell, it's heartbreaking, since I can only make out 3 maybe 4 words.  Jack probably has over a hundred words, he even knows his colors, red, blue, green, and recently purple. But because he only has a hand full of small sentences, he is delayed. And yes my son displays many sensory seeking behaviors, like spinning, like a lot of spinning. And apparently the desire to lick just about anything, walls, couches, trains, cups, my arm...this isn't considered normal for his age? Who knew!!  Recently though, he started this high pitched screaming, that quite frankly pierces the soul!  He does it out of excitement and anger, but he also does it if you touch his trains or comb his hair. And apparently children with autism tend to have gastrointestinal issues (Severe GERD in Jack's case) and sleep issues. Ahh sleep issues, most likely a topic for another post, but Jack only recently, like last few months recently, started sleeping through the night, and when I say sleeping through the night I mean he only gets up once in the middle of the night compared to every two hours in the past.

The dark side of Jack's diagnosis, and the reason we started seeing a psychologist, is the aggressive behavior, also closely linked the 17q12 syndrome. The hardest part is the explosive meltdowns, the ones that last 20 minutes or more, the aggressive, destructive behavior that breaks my heart every time.  These explosive out bursts started occurring up to 5 times a day, thankfully even pre-diagnosis, we have made so much progress and now they are down to once or twice a week. Mostly I feel sad for him, because I know he literally can not stop himself, the escalation is so quick, that you blink and its on. This is the part that until you witness it, you can't possibly understand. I have tried to explain to family, to friends, what a "temper tantrum" in Jack's life looks like, but I guess until now I haven't been specific enough. Everyone wants to dull it down, "oh that's part of the terrible two's, it's normal". Is it though? The reality is, its nothing like a typical 2 year old's temper tantrum, I assure you. We don't even call it a temper tantrum, it's an episode, a meltdown, in my world.  Let me share today's meltdown. Today Jack wanted to take a battery operated train into the bath with him, of course that's not gonna happen, so it's begins. First crying, then screaming, then running and hitting walls and doors, then into his room where anything not nailed down gets hurled with a rage no little person should experience. Anything standing up, like a table or his little tykes work bench get smashed to the floor.  When I attempt to stop him, in the calmest manor I can muster, to prevent this child from hurting himself, he hits me with a train in the face, then grabs the back of my head with both hands, attempting to rip my hair out.  I generally stick with the ignore it method, which is why I have lost count of the dents in my freshly painted walls. After about 20 minutes when he finally exhausts himself, the tears begin to flow, and my little boy curls up into my lap for a snuggle to calm down and 10 minutes later, it's back to business and into the tub we go. This is my reality of a so called "temper tantrum." I've tried everything, I've read the blogs, avoid the triggers they said, great because I could write a book about what triggers Jack! One of my favorites was talk quietly to him, tell him you understand he is angry....blah haha.  However, I will say that I do believe that a lot of what is behind these episodes is sleep and filling his way big attention tank. So thankfully, although I cannot stop the meltdown, we are learning how to decrease they're occurrence.

Regardless, because of this diagnosis I do look at my son differently now, and not in a bad way by any means.  Knowing that he has ASD (Autism Spectrum Disorder), helps me understand him better, things he does make sense now.  Sometimes I used to look at Jack and think "what is wrong with you, get your shit together man, let's go!"  But now I understand that sometimes he is in sensory over load mode, and the situation is too much for him in that moment. So now I take a deep breath before we continue, I allow time for him to process the situation. I make sure he's not hungry, or I grab him and we run for the hills to escape the overload he is experiencing, because we are in public, and I don't want them to arrest him for parental abuse, so ya whatever needs to be done. We have a long road ahead of us, and thousands of hours of therapy to go, but I know with all my heart, that Jack will be fine once he  has the tools he needs. Even though my heart broke just a little that day, it's has grown stronger in the days that followed. I have put on my momma warrior gear, which may include Pinot Grigio, just saying, and I am prepared for whatever the future holds. With the help of my village, especially my husband and my mother, we start the adventure.