Journey to Diagnosis: Lessons Learned

We were driving to a speech reevaluation this morning in the same hospital department where Ethan got his autism diagnosis, and that got me thinking. It's been almost exactly three years now. We've come so far, and sometimes those days seem hazy. But how did Ethan end up being diagnosed at just 22 months old (I think the average age for diagnosis is closer to 3 or 4)? I thought I'd talk about our journey. Maybe it will help someone, somewhere.

A disclaimer: this is of course, our path. We all know every child is unique. Every story, every autism, is complex. No two will ever be the same. One child's early symptoms could manifest into absolutely nothing in a different child. But often, there tends to be common themes.

Due to my brother's autism and the fact that I'm a worrisome type to begin with, I was most likely looking for autism signs in Ethan earlier than the average parent. So, I'm going to start at the beginning:

The Earliest Months (Birth-6 months)
Ethan was a sleepy baby. He was a really sleepy baby, but he had developed jaundice at three days old, so we chalked it up to that. Every child with an older sibling is compared to the one(s) before, so naturally we noticed Ethan was less alert, more fussy, and less smiley than his big sister. He did smile, but didn't give me his first really consistent grins until he was about eight weeks. When he around four months old, I took him to have pictures done and noticed the photographer (a new guy with little enthusiasm) had a really hard time getting him to smile. I took him to a different place a week later, however, and the guy got all kinds of smiles out of Ethan. This up and down, sometimes- social, sometimes-not behavior would become a common trend.

Ethan also learned to pick up his head and roll later than Anna (eventually we would realize this was due to low muscle tone), but not outside average parameters.

There was one other thing that jumped out at me. One day I saw a friend with a baby the same age with fruit in a mesh feeder, and the little girl was just gnawing away at the thing, sucking fruit out. I watched and realized that I had never thought to feed Ethan in that way, in part because I didn't think he could figure out how to do it. I couldn't understand why he wouldn't be able to, but I knew he wouldn't. Similarly, a few months later I was amazed to watch a child younger than Ethan pick cheerios out of a container, one by one.This was the kind of fine motor, sequenced skill that parents watch their kids do and don't think anything of...until they realize their child has never tried to, or tries to but can't.

6 to 14 Months
Somewhere between six to eight months, Ethan had a big developmental spurt. He learned to crawl; he got playful with his sister; he was very smiley and giggly, and sometimes seemed to be trying a few words. He seemed like a different kid. Any concerns I had about his development subsided...until he began to reach about a year old. Something was up and I couldn't put a finger on what. He seemed a little less aware and much younger than his sister had at that age. I chalked it up to him being a boy. He had a few words by one year. He would infrequently say Mamma and sometimes Dadda or Anna. I noticed he was just as enthusiastic, however, about saying "light" and "fan." I also didn't realize it at the time, but Ethan wasn't the type to do a lot of talking back at you. If you started talking to him, he would engage, but you had to keep things going, you had to work hard, or you'd lose him. When I look back at video I see that Ethan was very much paying attention, but he wasn't doing anything to continue the interaction. He was waiting for someone else to do all of the work.

15-17 Months
When Ethan was 15 months old, I was working on a freelance video project that involved filming a little girl just a bit younger than he was. When we went to the girl's home, I was immediately caught off guard when she called out "hi!" and seemed genuinely happy to see us. She didn't say much else. It wasn't the words that stuck in my mind...it was her eagerness to engage in some way. Again, I wanted to attribute this to her being a girl and naturally more social. But a few weeks later, I began to notice Ethan didn't seem to show much expression when people arrived or left. And when I left him with my mom one day, went to say goodbye, and he looked right through me as if I wasn't there, that's when I knew. I knew something was wrong. I got on the phone and called our local Birth to 3 early intervention program to schedule an evaluation.

18 Months
Ethan's initial evaluation took place a month later. He was almost exactly 18 months old. The experience, in retrospect, was unacceptable. Basically, two supposed professionals came into our home and asked me questions, then attempted to engage Ethan with their toys. When he wouldn't respond for the most part, they summed up their visit with a checklist that gave him two autism "red flags" and told me he would have had more, but since they based their list not on behavior they observed but on things I confirmed he could do, even if he wasn't showing them, they said it didn't warrant enough for further testing right now. "You'll probably just want to keep an eye on him and maybe have him reevaluated in six months to a year," they told me. Oh yeah, and before they left they also advised that I put away all of his toys with lights and buttons to encourage him to play with other things. Whaaaat???

I wasn't satisfied. At Ethan's 18-month appointment with the pediatrician right around that time, I again expressed my concerns. He gave me the MCHAT (Modified Checklist for Autism in Toddlers) to fill out. Some of the questions threw me. One specifically asked, "Does your child point to things to draw your attention?" Now I know that is a question attempting to decipher if the child has joint attention, or the ability to draw your attention to something or to look at the same thing you are looking at. I checked "yes" because Ethan did point (some children with autism cannot) and he would say things like "Airplane!" and point excitedly. What wasn't clear, however, is that true joint attention is a child pointing, checking in with the adult, then looking back at the object. It's a subtle but important difference. Again, Ethan had a few "red flags" but according to the pediatrican not enough to warrant immediate follow-up.

19-22 Months
I disagreed with our pediatrician, but waited for a little bit, because Ethan again hit one of his amazing phases where suddenly he was more engaged, more social, more chatty. Once again I thought he was on the verge of really exploding developmentally, and maybe everything was in my head. To top it off, everyone in my family, including Dan and my parents, who have raised a child with autism, also thought I was overreacting.

One day that summer we were in the bathroom at Old Sturbridge Village, of all places, and I heard a woman come in and ask a another mom how old her toddler was. He was Ethan's age, almost exactly. "What's your favorite animal, sweetie?" she asked. "A giraffe," he answered. I was floored. Ethan was so far from being able to do that at that point, again the rock dropped in my stomach. Something was wrong. I got on the phone and called a well-known developmental pediatrician in the area who runs a program designed to diagnose kids with autism as soon as possible (the program is actually called ASAP). I was shocked to find out the waiting list for a "quick result" was still eight months. Three times I called, begging to get in earlier. I used my family history as a trump card. Thankfully, that worked. An eight-month wait became two months, and in September 2009, Ethan was diagnosed in about an hour and a half. At the time, he had about 15 words and 5 he used daily. He wasn't yet combining words, and had few play skills beyond pressing buttons. He spent the last half of the appointment lying on the floor, no longer wanting to cooperate. His score on the CARS (Child Autism Rating Scale) was 36, or moderate autism. Above a 37 is considered severe.

Lessons Learned

1. Everyone always says this, but it bears repeating: trust yourself. Don't trust your doctor, don't trust your family, don't even trust the people who evaluate your child if it doesn't sit well with you. You know your child. We moms especially were given the gift of intuition for a reason. Instead of panicking, think, "What's the worst that can happen if I'm wrong, if I'm overreacting?" If a diagnosis is wrong, that will become clear over time. Which leads me to:

2. Some people are afraid of labels. Don't be. Parents don't want to rush to have their child diagnosed, feeling it's a "black mark" that will stay with them forever. These days, however, a diagnosis can be critical to getting your child much-needed services. In particular as the diagnostic criteria for autism spectrum disorders is changing (and in some opinions narrowing), getting an early diagnosis can mean the distance between giving your child a head-start on therapies and having to fight desperately to get anything. Again, what's the worst that can happen? Your child receives therapies he doesn't really need, progresses quickly, and is discharged? Schools don't really want your child to have a label -- kids in the special education system cost them big bucks -- and half the time they're trying to rip labels away prematurely. A label is not going to stick if it's obviously incorrect.

3. My final point harkens back to our quest to find out exactly what was going on with Ethan. If you're concerned that a child has ASD and are searching for symptoms to confirm, look at the big picture, the sum of issues, rather than individual symptoms, the cliche-type issues portrayed on TV shows or in movies. If I was going to diagnosis a child according to Hollywood, Ethan would have been a savant making fantastic algebraic calculations but unable to say hi, obsessively lining up cars, covering his ears and perhaps rocking back and forth, humming. Ethan did none of those things at the time of his diagnosis. He also had never flapped his hands or walked on his toes. His speech delay alone was not enough to make me think autism. Over time, the clearest sign to us was an overall weakness in connecting, communicating and sharing of himself with others, and a desire for objects over human interaction.

How did I know I'd end up writing a treatise here? I guess because it's something I'm passionate about. I say that not because I think we did everything right, but because I'm amazed even now how many times parents' concerns are downplayed by pediatricians and other supposed "experts." I have talked to many people convinced they should just take a "wait and see" approach. I've seen others stressed about their child displaying one autistic symptom and are needlessly fretting he must be on the spectrum. There is still a lot of misinformation and confusion out there.

Getting a diagnosis for your child is undoubtedly painful and can be hard to accept -- but it doesn't have to be the end of the world. Never getting your child the help he needs could be far more devastating.