Lifelong Diagnosis

We recently took Buddy for a follow-up visit with the developmental pediatrician who diagnosed him. I hadn't originally planned on following up with Dr. L as I wasn't really sure what, if anything, we'd gain from it. But all his therapists recommended it when they evaluated Buddy back in March since he has made such awesome progress. As the day for the appointment grew closer, I was getting kind of excited. I wondered what Dr. L would say about Buddy's advances and language. Everyone says he's like a totally different kid from when he was diagnosed.

So off we went for the follow-up visit. It's an hour and a half drive to Dr. L's office, but the kids did ok in the car. Once we got to Dr. L's office, we were told there was a scheduling mix up and that they didn't have Buddy down for an appointment that day. That meant we had to wait an hour to be seen. When we finally saw Dr. L, the disappointment continued. He barely looked at Aidan, except to point out minor things he was doing which Dr. L called autistic. Really minor things like playing with toys at eye level and using a few signs along with his words when requesting something from me. Seriously, if those are the most autistic characteristics/behaviors that a developmental pediatrican notices, I think we're doing pretty awesome.

I asked Dr. L about the usefulness of re-evaluating Buddy since he's made so much progress, and I was told that autism is a lifelong diagnosis so re-evaluation through a diagnostic clinic isn't really useful. The goal of all our therapies and interventions, according to Dr. L, is to move Buddy up the spectrum from classic autism to Asperger syndrome or PDD-NOS. He also mentioned that the social-emotional expectations for a typical 2-3 year old are pretty low which explains why Buddy isn't struggling all that much in that area despite being autistic. However, as social-emotional expectations become more complex and advanced, we'll probably see him struggle and it's just a question of how much support will be needed, not if support will be needed.

After being buoyed higher and higher by the truly great strides that Buddy has been making these past months, I came crashing down with his words.

Lifelong diagnosis. Lifelong diagnosis.

I get that's what the prevailing medical community believes about autism. But what I don't get is how a diagnosis that relies on a series of behaviors can be lifelong, even if the diagnostic behaviors no longer exist. I know there is a good chance that Buddy will struggle in the future, despite the great gains he's made recently. But I also would like some hope. Hope that things won't always be so hard. Hope that the hard word we're doing now will pave the road in the future and lessen the bumps along our way.

But the mainstream medical community isn't so into offering hope to us spectrum moms. So instead I push forward with our therapies, and worry and wait to see what the future brings.

Buddy, Pre-Diagnosis

As part of the diagnostic clinic, I was asked to provide short videos of Buddy in typical daily settings so the experts could get a broader picture of him than they would see during the 4 hour evaluation. Below are the videos I brought.

In this first one, you can see him getting caught up in a ritual involving puzzle pieces. Completely in his own world, he pushed each piece onto the eye-level edge. Toward the end of the video, you can see how he was unresponsive to his name, despite it being said multiple times in different intonations.



In the second one, you can see his immature and atypical play skills. Most 2 year olds would be playing purposefully with toys rather than aimlessly wandering around the room, dumping things and pushing things here or there. You can also see a lack of eye contact.



This is a video that was taken shortly after the diagnosis. Note how he doesn't respond to me at all and how he isn't interested in sharing the experience of looking at a book with me.



This last one shows some of his flapping, odd posturing with his hands and toe walking behaviors.

How Our Spectrum Life Began

Thinking back, I'd been a little concerned about Buddy's speech since he was 15 months or so. Sissy, his twin sister, started signing with us around that time and had 2-3 words. But Buddy wasn't picking up on signs or words at all. When I talked to people about my concerns, I was always met with reassurances that boys speak later than girls, especially boy twins, and that he was so focused on his motor development that his language would come later. Even our pediatrician and nurse practitioner said the same thing.

For some reason in late March I began to get more worried about his lack of communication. I tried to see how often he responded to his name (about 25% of the time), how often he'd follow a simple command with a gesture (never), how often he seemed to know what I was talking about (never). And then I began comparing that to his sister. And that's when I realized that Buddy gave me no indication that he understood what I was saying to him.

I decided to get him evaluated by Early Intervention to see if he'd qualify for speech therapy. The evaluation showed he had a very significant receptive language delay (meaning that he doesn't understand what he hears) and expressive language delay (meaning that he doesn't vocalize and/or speak as many words as he should). He also had a minor cognitive delay, too. At the time of his evaluation, his only words were: cat, dada and the sign "more." Shortly after starting therapy, he added the word "bye," the signs "ball" and "baby," and he began shaking his head "no" in response to questions.

Our first foray into therapy was an hour of developmental therapy and an hour of speech therapy a week. We continued this for several months. In August, I was feeling really discouraged by his lack of progress, despite getting tubes in his ears for recurrent fluid and infections. I also started researching autism. One day, it just struck me that when he was excited, he flapped his hands in front of his face and that he walked on his toes almost exclusively. I was no autism expert, but I knew those weren't good signs. Many long nights were spent researching autism and watching You Tube videos of autistic children. At this time, I found the awesome video glossary put together by Autism Speaks and First Signs. It shows the differences in behaviors between autistic children and neurotypical children. When I watched the videos of the autistic children, it was like I was watching my own son.

I was shocked. Floored. How could I have missed this? How come Early Intervention and his therapists were missing it?

Now in panic mode, I began searching for a way for him to see a developmental pediatrician for an evaluation. I was extremely blessed in that our local Easter Seals has a multidisciplinary evaluation clinic without a long waiting list. Buddy was evaluated and found to be autistic in September. Even though I had been expecting a PDD-NOS diagnosis, the autism diagnosis hit me hard. It's hard to really remember much about the first month after his diagnosis. I think my mind was occupied with "Oh shit. He has autism," for about 75% of my waking hours. A researcher by nature, I dug in, head over heels, reading web page after web page, book after book about autism.

That was 7 months ago, and slowly, but surely, I'm coming into my own, living in this spectrum life with my son.