“So will he always have something wrong with him?”
“Oooh, genetic testing? Won’t you blame the person who gave it to him?”
I really wonder if there is a special needs parenting book, better yet an autism parenting book, that helps parents with such questions – something parents could refer to and memorize certain responses to typical and sometimes offensive questions about autism. Available in pocketbook size so you can pull it out when you are stumped on what to say to one of those fun questions like “Do you think vaccinations gave your son autism?”
If no one has thought of this book yet, I might just have a best-seller on my. hands. So please don’t take it. Ha But seriously, it can be tough to field these questions without making things more awkward than they already are and/or causing unnecessary tension. Activate the People Pleasing mechanism.
We seem to go through waves of such questions and we are hitting another round of them now that we just had our annual check-in with J’s behavioral specialist at Children’s Mercy.
J gets close to 24 hours of therapy a week, between ABA and all the therapy he gets at his special education preschool and all his hard work has worked has paid off. His doctor was impressed, floored even, at how far he has come since his diagnosis on Nov. 1, 2016. On his initial assessment, Jackson could barely get through one task. He could’t sit still longer than 30 seconds and it took a lot of prompting to get him to stay on task. At 3 years, 10 months old, he mentally came in at 25 months old.
The progress we have seen this past year has been incredible, a bit of a miracle, really. He went from saying 20 words, not even saying “daddy,” to full seven words or more sentences, increased comprehension and social skills. At his recent check-up, his came in developmentally at 4 years and 4 months; he was 4 years and 11 months old at the time, which means he’s only delayed by 7 months. I don’t know about you but I don’t consider that a delay at all! We have been overjoyed with his progress because we know how hard he has worked with his therapists to make such strides. We did also receive some news that is … well, just kind of there. It isn’t good but it isn’t bad, either.
It’s standard when someone is diagnosed autistic that they get some genetic testing done – Microarray and Fragile X. We were suppose to get the blood work done shortly after his diagnosis but just kept putting it off. He had no life threatening issues and there isn’t any genetic conditions from either side that we are aware of to be concerned aboutso it was added to our to-do list and the months went by. After 10 months, I decided I needed to get serious about this before his annual check-up in two months. Better late than never, right?
We took him in to the Northland Children’s Mercy Clinic, they drew his blood and said we would have results in four to six weeks. It was October, right before the busy holiday season and before we knew it, we were swept up into the holiday madness and 8 weeks had went by – not a peep from the doctor on his results.
Naturally, I called to see what was going on. I left a message with a nurse and the next day she returned my phone call only to tell me that “the doctor wanted to discuss the results in person.” Code for they found something. This phone call took the place the first of December and his appointment was Dec. 29, which means I had at least three weeks before we could find out what his results were. No big deal, right? Not if you have anxiety. Muah-ha-ha
The day of his appointment, I was a wreck on the inside. I knew it was nothing life-threatening but the unknown can be scary. No matter how strong you think you are in your faith, there are moments where you will be tested. But as I reminded my oldest today, we never grow if we don’t push through our fears, failures and disappointments. This mama has a bad case of the “what ifs” more times than she wants to admit and the “what if” monster was barking up my tree that day.
After Jackson showed off his skills, it was time to talk the genetic results. What they found was that in the Microarray test one of his chromosomes was flagged “of unknown significance.” That means that an abnormality show up – a part of his P36 Chromosome is duplicated three times. Pictures a bunch of numbers (ex. P36-5752223565) A portion of those numbers, say the 565 on the end is only supposed to be there once but for him it’s there three times. Right now, this duplication isn’t linked to anything. But that doesn’t mean it won’t be in the future. Autism is really having a moment right now, so therefore the funding is coming in, which means there are more and more tests being done. With one in 68 children being somewhere on the spectrum, it definitely deserves our attention because as of right now, some severe forms of autism are genetically linked but nothing is clear-cut. You can’t say it’s genetic, you can’t say it’s environment. Right now, many doctors believe it’s a bit of both and while his genetic duplication means nothing now, who knows down the road. So we are being referred to the Genetics Clinic and interestingly enough (God is incredible, ya’ll) we were selected for a saliva genetic test. My husband and I agreed within seconds of getting the letter that we would do it. When we tell people this, it has been brought up if we think by agreeing to be part of a large genetic study that we are hoping to find a cure for our son.
Let me be clear, we are not looking for a cure. There is nothing to cure. Autism is not a disease, where you just pop some pills, maybe put in an IV for a few days, rest and then you are good to go. Autism is nothing to be ashamed of, and while he has made wonderful strides in development, his still has characteristics that qualify him to be on the side of the spectrum that needs more guidance and support. That’s it.
We believe that we are all on the spectrum somewhere, some of just need more support. Certain fabrics make you itch? Nervous twitch or foot tapping habit? Have trouble sometimes reading people’s facial cues? Texture issues with certain foods? All of those questions are on the spectrum questionaires. Yup, we all have something.
He is who he is. We are all on the spectrum somewhere, so in my mind, we are all a little autistic. Even when his development fully catches up with his age, we know he will have sensory issues, he will stim (jump, rock back and forth, hum), he will still have issues in the following areas: personal boundaries, his lack of a filter, wandering, peripheral vision, spacial awareness, soft speech, etc, etc,. And you know what? That’s okay. Some of those areas will improve but that is just a part of who our son is – he’s funny, bright, caring and full of energy. His smile is contagious. His sarcasm or lack thereof is what makes him funny. That’s what we need to focus on, not for some “cure.” We need to celebrate what makes Jackson, Jackson.
What do we hope to gain by doing testing? It’s just to see how the pieces of Jackson’s DNA fit and to help further the research on finding a genetic link to autism. It’s not to eradicate autism, it’s so that detection is better, which means intervention can start even earlier and children can get the help they need to live abundantly full lives. I’ve read book after book, research paper after research paper that shows that by getting children the therapy and extra support they need early on, when they are young, the better chance they have to thriving in society. It’s not necessarily about blending in, but making it easier for them to go out into the world and be themselves. And Jackson’s success over the past year is proof that ABA therapy and all his other therapies work.
Autism isn’t something that needs to be erased, it needs to be embraced.