Tuesday, June 28, 2016

Running for Mayor

Last night, Evan told Jayme that he should run for Mayor. I'm not sure the exact conversation, but they shared a little dialogue about the subject, and then Evan moved on.

Today, in the car, Evan declared that he would like to run for Mayor. I said, "sure, Buddy, maybe when you are older".

"I want to be a kid running for Mayor", he replied.

Evan then starts pumping his arms really fast and kicking his feet.

"TIME ME!!", he yelled.

I chuckled and shook my head and tried to explain the expression "running for Mayor". I wonder what he thinks a Mayor is, because clearly he things running towards it is a great idea.

This is just another great example of the tricky nuances of speech that we take for granted but that he, like many people with autism, take literally...that he used in a contextually appropriate manner, but didn't understand.

It's like last week when Jayme told him to "keep his eyes pealed" for something, only for Evan to grab and pull on his eyes after which he asked if they were pealed.

Just another day in the funny little world of autism.

Tuesday, June 21, 2016

Summer Sun

While I love the long days of summer, I dislike the disruption of Evan's internal clock. I've mentioned before how he has essentially no concept of time, and while I know that this is difficult for any young child, it's different in an autistic brain (you'll have to trust me on this).

Evan monitors his night time routine by the light in the sky; that means on long June days, he is not ready to go upstairs until about 9pm and is in bed around 9:30. He is up at 6. No, it's not too big of a deal, but we are talking days upon days of losing 30-60 minutes of sleep, so that starts to add up. If we try to get him up stairs earlier, he says, "but it's not nighttime yet", or "it's not dark out yet". Last night I managed to get him in the shower at 8:30, which was great, though he still wasn't ready for bed until about 9:20.

I brainstormed this a little bit with my sister the other day...we talked about teaching him what the numbers on the clock mean in terms of the time of day (i.e. 8:00 is when we go upstairs). The problem, and why we haven't done it, is that our bedtime routine is quite rigid and only happens when he is tired. This is opposite of what we did with the girls, and how most people put their young kids to bed....you establish a bedtime, and you develop your routine around that. We establish he is sleepy, and then do our routine. If he isn't tired, our routine doesn't work; he does not understand that even though he might not be tired, he still needs to go to bed. Getting in his bed is only successful if he is on the verge of falling asleep, and after going through intense sleep intervention with him a little over a year ago, I am hesitant to make any changes.

Daylight savings time changes are usually pretty seamless for us, because his body is adjusting to the changes in the sky, not the changes on the clock. He is probably closer to a primal body response to light than most of us, which is not necessarily a bad thing; it just leaves little down time for Mom and Dad during summer nights, and there are days when I would like to actually sleep past 5:30 or 6.

Sleep issues are very common in people with autism, and we are quite lucky that Evan sleeps as well as he does. I do think he wakes at night but doesn't alert us to that fact. My older daughter does this too and it's quite common in kids with anxiety; I had no idea she was regularly awake for a length of time in the middle of the night until she was specifically questioned about it by a doctor, and recently Evan mentioned something similar to a doctor that makes me believe the same is happening to him.

Every year I'm fascinated (and frustrated) by the influence the sun has over him. It should be interesting (and frustrating) to see how this plays out during his teenage years. Like most things I blog, I want to memorialize the things we experience with Evan that are so different from our neurotypical kids, but I'm guessing part of our sleep journey will resonate with someone out there.

Just another interesting quirk to add to the pile...




Saturday, June 18, 2016

16p13.3

16p13.3

This is Evan's genetic deletion. Evan is missing the p (short) arm of chromosome 16 within the 13.3 band. According to our genetic testing company, "it is approximately 169,000 base pairs in size and involves one gene called RBFOX1. Overall, the human genome contains over three billion base pairs of DNA and approximately 20,000 genes."

And, for those who had human biology eons ago, we each have 46 chromosomes that come in 23 pairs, one of each pair from your mother and father. So, on the short arm of chromosome 16, Evan has only "one copy of the involved chromosome instead of the expected two".

Huh.

Let's keep going...

RBFOX1 - part of this deletion includes the RBFOX1 gene. Again, according to the testing facility, "genetic variations in this gene have been suggested to increase a person's risk to develop autism spectrum disorder (ASD), developmental delay (DD) and possibly seizures. However, there are also studies that suggest that genetic variation in RBFOX1 do not cause developmental or medical concerns."

"Because of the conflicting information about the RBFOX1 gene, the clinical significance of this deletion for Evan is currently unknown."

O.k., so my mind is racing as I try to process this information. Let me start by saying that in my opinion there is nothing negative here; if anything, I feel like I've just gotten actual genetic proof of his autism, even though there is not medical significance to back this up. There will be one day - I just know it. Evan has exhibited symptoms since birth, and Jayme and I have always believed that there are genetic reasons for his ASD diagnosis. I actually feel a sense of relief with the results that we got because there is actually something wrong, and not that I have to prove to anyone that Evan's autism diagnosis is real, but if I had a penny for every time someone said, "I wouldn't have guessed that he has autism...".

Genetic testing is shockingly easy in this day and age. Even 3 years ago when Evan was diagnosed, our insurance company wouldn't have paid for the testing and it required a blood sample. Now, it's as easy as a cheek swab and cost us nothing (beyond our crazy insurance premiums, that is). We finally had him tested at the encouragement of his neurologist because, she said, there may be abnormalities that will help guide his medical care. Though his results are technically inconclusive, what we do know is that he has a genetic deletion consistently identified in others with ASD and one day, maybe next week, maybe in 10 years, the understanding of this deletion may pave the way for things like early diagnosis and gene therapy that could literally change the course of someone's life. This is our hope.

So, what does this mean for the rest of the family? A genetic deletion can happen in one of two ways; it can be a de novo deletion, or one that happens by chance, or it can be inherited from a parent. With a de novo deletion, there is less than a 1% chance that our other children also have the same deletion. However, if the deletion is inherited, there is a 50% chance that the girls have the same deletion, but because there can be such variability in genetic expression, it is not uncommon for siblings to have  different clinical features. Our 12 year old has expressed the desire to get tested to see if she also has the deletion, and we've already told her yes. We've not had the conversation yet with our 10 year old, and we'll test or not test her based on her wishes, but I do think it is important for them to know, especially as they get older and start thinking about their own families. Even if they have the deletion, it doesn't mean their children will get it, and even if their children get it, it doesn't mean that they will have autism. But, eyes wide open here - they live in a house with a sibling with autism and see first hand what that means...it should absolutely be their choice as to whether or not that genetic risk is worth taking for them. I'm sure there are many that would disagree and that is fine, but disagree from a position of knowledge, not from a theoretical position of what you think living with autism is like.

Science is so awesome. I love living near institutions that are involved in research, both that we can be part of actual studies and take advantage of cutting edge findings. There are so many unknowns in autism, and to have providers that understand that and are willing to bank Evan's information for future use (for him that has included a full immunological panel and genetic testing) is pretty amazing. Many of you know that I fundraise for autism research, and this is why...what they discover about autism in the coming years will directly impact my family's lives, and I plan on being an active participant in making that happen.


  

Tuesday, June 7, 2016

Tide Pool Boogie

Today was the first grade concert, the Tide Pool Boogie (to be capped off with a tide pool field trip on Friday). Today was a tough day to be first grader that doesn't love crowds, loud noise, a change in routine.

I've written about days like this before so I won't go on and on, but it warrants a small blog to mark this memory...to put words to the struggles of other special needs Mamas - because this day was hard for me too, and I wasn't alone.

The tie-dye in the picture above was the shirt Evan was supposed to wear today; I helped him make it at school last week. He chose the colors because they reminded him of poison. No, I'm not sure where that came from but in my attempt this morning to get him to wear it I (shamelessly) told him he could pretend that he was shooting poison on the audience. That suggestion got me a smile, but not much else.

I've been in contact with Evan's teacher several times regarding today's concert, as it is well known that situations like this are among his least favorite. I encouraged them to have him practice as tolerated and to have him wear his headphones, and we agreed that he would participate in only one of the two performances.

So, in he walks with his class with his headphones on...the only one of all of the first grade classes NOT in a tie-dye shirt. He was placed off to the side, away from his class (which was in the middle of 5 classes, so not an ideal location for him) and next to his best friend. He stood when he was supposed to stand, sat when he was supposed to sit, and otherwise zoned out. No singing. No clapping. No smile. No enjoyment.


This is how I found him at one point.

I can't tell you how much this hurts my heart. I'm not sad because he's not like the other kids. I'm sad because to watch him in such discomfort and isolation never gets easier.

What IS better this year compared to last is that in the past I would let this grief consume me. I would try my best not to cry in front of everyone and paste on a smile that said, "yes, isn't this wonderful?!", while my heart was breaking. This time, though it took conscious effort, I was able to turn away from Evan and truly enjoy watching the other kids. My smile wasn't fake - I could watch all the cuties I know and feel warmth in my heart at their enthusiasm and happiness. And, then, I would turn back to Evan to make sure he was o.k. Was I sad? You bet. I left feeling emotionally drained in a way that should never be associated with a school concert, BUT there were no tears.

Progress.

Relentless forward progress.

And I almost forgot to mention that he made it through the whole concert. So, when that Mom I know congratulated Evan on his great job and gave him a high five, at which point my first reaction was to be uncomfortable with her praise, I was able to pause and look back at his performance and think she is right - he DID do a great job, just in his own way. I'm not sure that Mom will read this and recognize herself, but I am incredibly grateful that she talked to Evan, when my own response to him was mostly silence.

As I'm finishing this up, guess what Evan is wearing?

Lastly, strength to the other Moms out there that had tough days too; I'm forever grateful for your strength and our community of craziness.