5.05.2013

Genetics, including annoying little brothers

We went back to Sick Kids hospital last week to meet with the neurologist and go over the results of the sleep study Sophie had back in December. We learned Sophie does not have seizures at this point which we sort of knew but it was nice to confirm. The neurologist did warn us that seizures are unfortunately quite common in autistic children (she said 25 percent have them). We also talked about the upcoming MRI she will have, which I am not looking forward to at all. The good news is that this will probably be the last medical test for a while, provided nothing changes. While the neurologist admitted that most likely the MRI won't provide any answers, they do want to just rule things out because of her regression and her large head. As a funny aside when we were talking with the neurologist and asking lots of questions, she asked if we have a background in medicine :-D. It does feel that way sometimes, doesn't it.

She also referred us to the geneticist at Sick Kids because Sophie does present with some unique features they want to investigate (hypo pigmentation, large head, coupled with the regression and low muscle tone). So, yay possibly more blood work is in our future. I do hope some genetic markers will be identified one day. It is a touchy topic for sure and I do understand both sides of the argument. Identification could lead to increased abortion rates, an "extermination" (what a horrible word that is). For me the main concern is Sophie's siblings and their own reproductive futures. It appears that autistic traits increase in magnitude from one generation to the next. What could be considered "quirky" in our generation, or even our parents' generation led to full-blown autism leaning towards the severe end of the spectrum in Sophie's case. If we continue to extend that pattern, I would say it is extremely likely that at least one of our other 3 children will have a child with classic autism, and practically a given that there will be other "quirky" diagnoses such as ADHD, Asperger's or SPD which also seem to be prevalent in our families. It is noteworthy to mention that my husband and I are the only ones out of our siblings to have children yet so we are still waiting to see how that will develop (he has two brothers, I one sister, all younger).

But I digress. I always like to write something about Sophie in each of my posts so I am bringing the focus from eugenics back to her. She had a growth spurt recently both physically and neurologically I think. I can see some new connection was made, almost as if somebody was tuning an old radio to a frequency, kept getting static and then all of a sudden it caught and the signal became clear. Before, it was hard for Sophie to register sounds, or rather she seemed to be apathetic to them. So a motorcycle could roar by us as we were walking and she wouldn't even flinch (she had her hearing checked it was fine). Recently I noticed she started to notice sounds like this. Not only notice, but track visually- so turn towards the sound (motorcycle, garbage truck, plane) and follow it with her eyes, even turning her head to continue following. It's one of those things that just clicked into place one day, literally from one day to the next and that's why I think some new connection was made, because it wasn't something I taught her that's for sure.

With this new awareness comes a new sensitivity. She's been covering her ears a lot lately. The most unfortunate side effect of this new development is that the loudest member of our family (the little man) is paying the price. His baby screeches and fusses seem to bother Sophie now and she tries to quiet him... by putting her hands in his mouth. She seems to also be bothered by his tears so fingers in the eye should remedy that problem, no? Needless to say, he doesn't find that comforting. We've had several incidents recently of them both crying together and escalating in distress level by feeding off each other.

If I ignore him it's like he isn't here... Until he starts shrieking

This post is getting long but I will finish with a movie recommendation. I am usually wary of autism documentaries but this one (A Mother's Courage: Talking Back To Autism) was very well done and offered a balanced, compassionate viewpoint. It chronicled an Icelandic mother going on a quest to America and talking to resident autism experts (including Temple Grandin, interesting as always). It also showcased the Rapid Prompt Method and the lady behind it (a fascinating woman), but was full of many other autism experts and families. While it was mainly about severe autism, the tone was positive and hopeful. It is on Netflix, check it out!

 

4 comments:

  1. I had seen that documentary was on Netflix, but I was avoiding it as I am wary like you of autism documentaries! Thanks for letting me know it's okay to watch!

    I would love to find a genetic link or a metabolic link or something along those lines to explain Janey's autism. I know there is controversy there, but I think any increased knowledge and understanding of autism is a good step. I also would love to be able to give some answers to Janey's brothers. They have already thought about the increased risk of autism in any children they might have.

    Sophie's progress sounds great! I know just what you mean with the noises previously being ignored. It reminds me of Janey lately with the cats. For years, the cats could jump right on her and she would act like it wasn't happening. It was just too much for her to process. Lately, she pats them and even does the classic 2 year old thing---tries to ride them! It's the first time in her life I've had to keep an eye on her interactions with our feline family members!

    Thanks as always for your wonderful blog posts.

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    1. Do let me know if you found the doc ok too! My friend and I watched it and found it inspiring, I'm curious if you liked it too. And the rapid prompt method, it is interesting no?

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  2. Don't let the haters deter you from seeking answers. I have been shut down a time or two for daring not to celebrate all things autism. I guess I believe that Kate carried the "autism gene" and something in the environment turned it on. That could change but for now that is where my head is at. I would like to know more about the genetic side. Epigenetic's is the field that will provide our answers I think. Well articulated as usual! Thanks

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    1. Yes epigenetics is where it's at, lol. Have you read any of the Robert Melillo books? I haven't met any haters yet, I'm too much of a social media hermit :). I'm not in the business of provocation, just in the pursuit of knowledge, main objective being understanding Sophie the best I can.

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