Genetics Revisit

Owen’s pediatrician wanted to revisit his genetics results to see if any new information has been discovered in the past 2.5 years…so it was off to Bethesda to see a specialist.

In the waiting room, Owen made a beeline for the one kid he saw who was also using a tablet. 🙂

The short story is that there is nothing new regarding his previous test results and we don’t have to worry about revisiting them for another two years unless something changes drastically with his health or behavior. We also don’t have to worry about getting Katie tested.

I fully believe it’s something that could’ve been handled over the phone without actually seeing Owen in person but I obviously that would make things too easy. (Fortunately the drive there did not give me an anxiety attack as it has in the past—the traffic was fairly light and I left plenty of time.)

A second ride on the autism train?

Well, we may be on the autism train again.

Because Owen is still having (to me) major food issues, I wanted to make sure there was nothing else going on. Yes, he could just be a very picky eater…but I would be wracked with guilt if something else was going on and my new food rules were creating more problems than I was trying to solve. (I still feel guilty about the whole pooping thing back before we learned he had a serious issue and I don’t want the same thing to happen with food.)

So I got a referral to see a Developmental Pediatrician again (the same type of doctor we saw at Lejeune who diagnosed him with autism) and crossed my fingers she’d just say “Oh yes, it sounds like he has eating issues, here’s a referral for therapy.” Ha. I should have known better. 🙂

Of course she had to do the whole background history, and during that discovery period, a few random other issues came out. They’re things that he’s always had/done that he hasn’t yet grown out of…which led her to think he might have ADD…or possibly autism. Sigh.

But that said, considering everything we discussed, she thinks he’s absolutely thriving and I’m doing everything right (in regards to meal times and food) so there’s no immediate concern. But she does want him to see an audiologist for a real hearing assessment (he still covers his ears with loud/annoying noises which she said should not happen anymore at his age), start OT for the food (and pooping) issues, and see a geneticist again (genetics has come a very long way since we got his results in 2012 and the doctor could potentially see something now that we didn’t see before—and we might get additional genetic testing done). The results of those appointments will determine if we go forward with actual autism testing.

She’s not worried but wants to cover all the bases. If it’s determined he can benefit from additional therapy, we will go through with the testing and an autism diagnosis will allow us access to tens of thousands of dollars in free therapy since it’s covered under Tricare. (This is the same therapy we qualified for the first time but we never went ahead with it because neither of us were convinced he REALLY needed it—especially compared to all the other SERIOUSLY autistic kids out there.) And she agreed that was an okay decision, but also told us that if there’s something we can fix NOW, it’s better to do it while he’s young, rather than wait and decide when he’s 10-12-14 and he could be MUCH more defiant and MUCH harder to work with. (Basically, young kids are much more pliable.) 🙂

She did a few tests with him and agreed that overall he was doing very well. But interestingly, one of the tests she did (I think it was having him repeat full sentences back to her) she said he tested at about an age 4 level. That really surprised me because I had been listening and I thought he did okay. However, I think it was more a point of him (not) paying attention—he started to fiddle with a crayon and wasn’t listening closely (hence the thought of ADD). She said he could very likely be extremely smart and his brain is just racing…and it’s hard to stop and focus because he’s already on to something else. (And actually, conversely, when he has laser-like concentration on something and spends too much time trying to be perfect.) I said that sounds like Owen on a regular basis.

I really liked her and feel comfortable with her so I feel okay. Of course it’s still a shock to think we might get an autism diagnosis again…but her main thought was that if he’s doing well and we expect (and get) good things from him, we’re on the right course.

The best part of the appointment? She asked him what his absolute VERY most favorite thing to do was. Of course, I was positive it would be Legos. But his immediate response? As in he literally didn’t even think for three seconds? “I like to go to school.” 🙂

So now I have to wait a few days to call and schedule the three appointments. Stay tuned!

Food discussion

So, of course I posted all about Owen’s issues and our new decision on a forum with some friends. I love the input I get—often things I’d never have thought of. They gave lots of advice—some things we’ve already tried and some things we just don’t want to do (mainly, let him make a bowl of cereal or a sandwich—himself—if he doesn’t like dinner). We don’t want to let him do that because then he’d just eat cereal or a PB&J every night. And we’re trying to get him to EXPAND his food choices.

The mom guilt part of me agrees that if he wants to make a sandwich he should be able to do that because it’s just food…and if HE makes it, at least I’m not…but the other part of me wants to be a hardass because I’m just SOOOOOO sick of it and dammit, he can eat what’s on the table or go hungry. Yes, I’ve literally reached that point. (All the years of the same issues over and over and over have hardened me a bit, I admit.) I mean, he managed to survive pre-k lunches not liking anything but obviously eating enough to not be hungry so why can’t he do that at home? Also, he’s not always going to be able to make a PB&J or grab cereal—if we’re out or at someone’s house, he needs to eat what’s given (not that it’s a terribly common event).

I just don’t know. Just when I think we’ve come up with our solution, someone else makes a point that changes our minds.

Oh, and to make matters more complicated, it’s also a possibility he could have some sensory processing issues. Sigh. His autism diagnosis has long been retracted, but the doc never did any type of food/texture testing, and I’m struggling to remember if we even answered any questions about it. At the time, we may have just thought he was still just young and being normal-kid-type picky and we were concentrating more on the other areas.

So of course if I pick the hardass route, we’ll likely find out he does have a sensory issue and then I’ll be wracked with mom guilt. But if we go the non-hardass route, we might never even know.

So in the next week I’ll be calling his pediatrician to see what we can get figured out. And in the meantime we’ll see how it goes. 

Blurg.

Autism Re-evaluation

So, we had Owen’s autism re-evaluation today. The results? Not autistic in the least. Not even remotely close to ADHD, either (the only thing that was remotely close to the minor issues he has). So…YAY! The doc said he had obviously just been on the slow end of the curve for social/emotional stuff.

This rough graph is how the doc explained it: The yellow pie-shaped area is considered “normal” (between the 25th and 75th percentile). At age 3 he was below normal; at age 5, he’s jumped up into normal. The “issues” he has now are consistent with typical 5yo kids, but we need to watch the ADHD tendencies. (A specific ADHD questionnaire I filled out gave Owen a score of 1 out of 9—where a 6/9 is a clinical ADHD diagnosis.)

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In fact, after testing Owen for a mere 10 minutes, the doc looked at me shaking his head and said “He’s not autistic.” But then he finished out the test just to get some hard (confirming) numbers.

As I expected, towards the end of the 50+ repetitive questions (“Which is the island? Which is the cliff? Which shows annoying? Where’s the mountain? Which one is the electrician? Where is the triangle? Which is the raccoon? Which is the walrus? Which one is the guitar? Which one shows sharing? Show me crying.”) he started to lose interest, wasn’t paying attention, and was staring off outside looking for the squirrel. (If you recall, this was the doctor that feeds a squirrel peanuts through his window—and Owen had remembered that when I initially told him about the appointment this morning…and he had put peanuts out but the squirrel hadn’t come to get them yet.) The doc eventually quit the test as he really already had enough confirmation that Owen was not autistic. He did the calculations and all of the results put Owen square in “normal for his age” range.

Just to put it in some perspective, they plan two hours for testing. The last time I think it took 1:30. Today we were done at 40 minutes.

Waiting for the squirrel:

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Showing daddy and Katie how to feed the squirrel:

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Katie drawing while we waited for the EFMP paperwork. Since Owen no longer has an autism diagnosis, we’re no longer eligible for the EFMP program.

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The Doctor was printing our paperwork and the printer was making typical noises.
Owen: Excuse me? Doctor? Your printer is making funny noises.

🙂

So we’re happy. And relieved because, honestly, all this time since the original diagnosis, we haven’t really thought of him as autistic…and now it’s confirmed he’s just a normal little boy.

Our first picture with Santa!

Over the years we just never cared about getting the picture with Santa. I hate crowds and I hate holiday crowds even more…so we just never did it. Then, once Owen was a bit older, we tried…but the commotion was too much for him and we had to leave before Santa even arrived.

Fast forward to this year and he’s showing A LOT more interest in Christmas—like things he wants and asking about Santa—so I thought I’d have to try this year (of course, the year Tom is gone). Thankfully, the local autism society planned a sensory-friendly event at the mall (two hours before regular pictures with Santa started) and we were first in line!

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Owen was good at being patient (just asking a handful of times how many more minutes) and overall it was easy peasy! Of course Katie wasn’t her normal smiling self, but I was just happy she wasn’t snotty and/or screaming and/or wiggly and actually looked at the camera. I think they only took four pictures! Owen was great, too—and was EXCITED to see Santa. (Last night when I was telling him about the “mystery trip” to prepare him, he asked if it was the real Santa or a pretend Santa. I had no idea where he got the idea of real and pretend, but I told him it was a pretend Santa because of course the real Santa was getting ready at the North Pole. He accepted that.)

Of course the picture packages are a complete racket—but I ended up with a $40 package because it came with a $20 Shutterfly credit. I could have gotten cheaper packages but they only came with $10 Shutterfly credits so it was cost efficient (for me) to get the bigger package. So I will have actual photos to mail out this year. 🙂

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On the way out, Owen wanted to ride in this kiddie car. I just happened to have the required quarters, so I said okay.

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As you can see, Katie lasted about four seconds…and Owen only lasted about three more. 🙂

So, we tried to see Santa.

We tried to go to a USMC family-oriented Christmas party tonight on base. We prepped Owen for sitting on Santa’s lap and for telling Santa what he wanted and everything. He was excited! We didn’t have high hopes of him liking the crowds, etc., so kept our fingers crossed it wouldn’t be too big or too loud.

Nope.

We were fine walking in. It hadn’t officially started yet so people were just milling around. He didn’t want to do any of the crafts except decorate a cookie.

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I took him over to where Santa would be to get familiar with it…and he refused to even get near the chair.

Then as soon as the pre-party music started over the loudspeakers, he was done. 🙁 He wasn’t as freaked out as he was at Sesame Street Live (I’m guessing because it wasn’t AS loud) but he was covering his ears and asking to go home. So we packed up and left. Before the event even started. Poor kid.

And now I’m pissed we missed the EFMP (exceptional family member program) Christmas with Santa, which would have been super low-key and perfect. Next year…

Genetic Testing Results

Today we went to UNC Chapel Hill to the Pediatric Genetics clinic to get the results of Owen’s (and Tom’s) genetic tests explained to us. (This was from when Owen had his blood drawn back in April—it takes a month or so to get the results, and then Tom and I had to get ours done and wait another month, and then it took a few months to get into the specialist.)

Previously, all we had been able to tell from the greek-to-us multi-page results was that both Owen and Tom had the exact same markers (Owen’s and mine didn’t match at all so I basically got no results for me). But the thing with genetic testing (that our developmental pediatrician told us) is that there are MILLIONS of combinations of things and the science is still so new that they maybe only know what (for example) 50,000 of the possible five million results mean. So while they can tell you something isn’t right, they can’t tell you exactly what effect that might have.

So today we got to talk with a genetic counselor who gave us more information. She still couldn’t really give us any more information on what effect the gene mutation has (like if it’s the direct cause of his autism or autistic tendencies) but she was able to tell us enough about the mutation that we can pretty much rule out it being anything serious.

Let’s see if I can explain this.

Basically, the part of the gene that has the mutation is in the middle of the chain—which is better than at either end where two chains connect (if it was at either end, it would definitely cause much more noticeable issues). So my brain worked it out as “It would be like origination and destination points of your trip are set in stone, but the route is variable. If either end changes, the whole thing changes, but if the route changes, it’s not a big deal.” She agreed it was an apt correlation.

Also, the other good point is that he isn’t MISSING anything on the strand—he actually has an extra set of something (his own plus the double set from Tom for a total of three instead of the normal two). And the set of three is fine—if there were four sets it would be a major problem. And lastly, since Tom has the identical genetic mutation and had absolutely no issues growing up (or today), it’s very unlikely (statistically impossible) that it is causing Owen’s issues.

So taking that and all his background (and our family’s backgrounds) into consideration, she didn’t see any reason to think this mutation was the cause of the autism and said we really don’t have anything to worry about. She will research it more to see if she can find anything, but she doesn’t expect to find much. She said the only time we will likely need to think about it again is when he hits the teenage years and/or wants to have kids—in case they have come up with a defining characteristic of that specific mutation or if it will have any effect on his own kids. We were told not to worry about getting Katie tested at all unless we started to notice any issues.

So basically everything scientifically is good…now I just have to get the in-home therapy started so we can work on his minor issues.

School screenings findings meeting

Long story short, the school didn’t really seem to think Owen was in dire need of any special education—which, yes, is a good thing—but they did notice some areas in which he was on the lower end of normal (some language and social stuff)…but still normal (and said he was actually quite advanced on a lot of language stuff).

That said, we were able to request a more formal language evaluation (since that’s what we’re most concerned with) and classroom observation (his speech issues we’re concerned with might be better observed—or negated—by seeing him interact with kids for a longer time period)…so we are waiting to schedule those. Best case scenario, we are hoping that we can get him into a social situation (preschool) with other kids which will improve certain aspects of his language skills because he will learn from the other kids and also have to use his language to communicate with them (instead of with us who already understand him pretty well).

As a sidenote, these findings have NO effect on our ability to get the ABA (applied behavioral analysis) Therapy benefits through the military, so even if we don’t qualify for any special education programs through the school district, we will still get the one-on-one therapy.

Sesame Street USO Experience

http://www.uso.org/sesame/

Since its debut in July 2008, the Sesame Street/USO Experience for Military Families has taken its message to more than 248,000 troops and military families and performed 433 shows on 131 military bases in 33 states and eleven countries.

We learned tonight that Owen really doesn’t do LOUD. (We know he doesn’t like sudden loud noises and in general he doesn’t like loud areas…but I was holding out hope.) So, yep, the Sesame Street thing was a fail. But let me start at the beginning…

We were in the third row on the end of the aisle. I was excited because it meant I could get good pics of the stage and Owen would be close enough to see. The mom next to me said “You know they come down the aisles right?” obviously warning me. I said no I didn’t know, but we’d see what happened (if Owen liked it or was freaked out). I loved the Sesame Street sign.

He loved seeing all the kids waiting in line and in the auditorium (“Look at all the kids!”).

He didn’t seem to mind the noise level of the auditorium (the first big challenge).

He loved that he got an Elmo spinny light toy (he LOVES those type of toys).

He let me take a picture (that turned out awesome).

He did awesome waiting the half hour—playing with the spinny toy and my phone (and the mom next to us even commented on how awesome his behavior was, compared to her 2yo monkey who wouldn’t stop climbing and moving).

But…he started saying DONE before the show even started. But it was a calm DONE, like a polite suggestion. I figured once he saw Elmo, maybe he would change his mind. Well, the first thing that happened was a guy came out to welcome everyone and give thanks to certain people…and Owen was okay with that…and I learned he apparently really likes clapping when everyone else is:

Then there was a video of the First Lady and Elmo, welcoming everyone and setting up the premise of the show. And he was okay with that. (This is one of the videos we saw.)

And then Elmo came out and it was LOUD and they started LOUD music and dancing.

And that’s when he became more emphatic with his HOME, DONE, and pointing. He would be excited momentarily when each new character came out, but it was still LOUD songs and he was not a fan. I kept trying to talk to him to hopefully calm him a little and get him through the music to where there would (hopefully) just be talking…but he alternated between putting his head in my lap (trying to hide) and pointing and saying HOME. I thought we might make it, but then he started whining and almost crying, so I knew we were done.

So about five minutes in (before the thing really got started—they were still in the warm up songs) I decided it was time to go and moved to get out of my seat—and he was off like a shot up the aisle, weaving through all the little kids in the aisle who were dancing, not even looking back for me. As soon as we got outside, he was completely fine, playing with his spinny toy and having a ball.

On the way to the car he started saying “Great job, mama, great job.” ❓ He’s been saying that lately and I assume he’s just parroting me saying it (I say it A LOT) but sometimes it’s appropriate for the situation. So I just thanked him, and eventually he said “Great job, mama, seeing Sesame Street.” So to him, he saw Sesame Street and he was just fine. 🙂

So in once sense I was disappointed (I kinda wanted to see the show—it wasn’t just for him!) but he was apparently happy AND we were out of there before it ended so we didn’t have to deal with the crazy traffic AND we got home in time for his bedtime AND at least we learned the lesson a cheap way (free tickets to something local), instead of traveling and spending $$$ on tickets for something in, say, Raleigh.

I’m guessing this is one of the areas we’ll be working on when we eventually start therapy. 🙂

Chromosome test results

I just technically got Owen’s chromosome test results. I say technically because the pediatrician read them to me over the phone—and of course it’s all Greek—he wasn’t even familiar with the exact result so he said he has to read up on it. I can’t even tell you what the exact findings were until I go pick up a copy of the report (it was too complex to write down over the phone).

That said, apparently it was recommended that Tom and I get tested, too. I’m assuming it’s so we know if we need to 1) watch Katie for signs and/or 2) get her tested early. If we’re clear, the mutation starts with Owen; if one of us (or both) have the anomaly, she’ll need to be checked because we will likely pass it down again.

For some reason, this is more disturbing to me than the initial autism diagnosis, even though it technically doesn’t change anything and there’s nothing we can do about it either way…it’s just knowledge.

Autism Roundtable

Well, unfortunately, it was pretty much a waste of time. It was basically for us to ask questions—which I actually didn’t really have many to start with and the few I had were answered pretty quick—and then the other people just wouldn’t stop yapping. Sure, there were some good points and some new info muddled in there, but it basically sounded like a mom’s group with everyone comparing and sharing stories (and on top of that, it sounded like everyone was MUCH worse off than me, so the info was stuff that really had no relevance). And at this point I don’t need a mom’s group to commiserate—I understand they might (and they were all thrilled to be out of the house away from their kids), but it just wasn’t what I wanted or needed. I did want to talk to some of the therapy providers that were there, but the yappers were still yapping 30+ minutes after the meeting was scheduled to be over, so I had to leave to get home to my babysitter (and for Owen’s bedtime).

GRRR.

Second school screenings

We had told Owen that he was going to school today and he was going to get to play games…so he was VERY excited!

I didn’t realize (and they didn’t forewarn me) that I wouldn’t be in the room when they were doing the screenings…which is fine (I mean, I won’t always be there!), but it did come as a surprise. They said they would be screening four areas (socialization, fine motor skills, and I forget what else). It only took about 45 minutes and then we were on our way. We won’t find out any results until our April 30th meeting…so stay tuned.

Hearing and vision screening

Today was our first appointment at the school to get Owen’s hearing and vision screened. We were there early, so they had us wait in a nice room where Owen immediately found the cars…and tipped them. 🙂

*On a sidenote, the couch and loveseat was the same exact furniture my mom used to have, just in a slightly different color.

Before the testing even started, they were impressed with him putting the toys away like I asked. 🙂

First up was hearing. Of course he had no problems pointing to the correct pictures on a chart (fire truck, ice cream, basketball, etc.). With the headphone testing, he was supposed to drop the plastic bird in the bucket when he heard the tweet, but he didn’t quite understand…but his eyes would light up and he’d smile so the audiologist knew he was hearing it. 🙂

Then it was over to the nurse where she did a few basic vision tests: naming colors of blocks as she set them out, pointing to a tiny dot on a piece of paper, and following a tiny puff ball as it dropped from her fingers. He did great with everything, and the nurse concluded that his eyesight is 20/30 and 20/40 which she said was average for his age (but the tests didn’t seem very scientific to me though).

I guess this WAS just a screening, and if they noticed anything REALLY off they’d schedule actual testing (which the same goes for Friday’s clinic). But everyone seemed happy with the results…so I guess that’s good.

Developmental Pediatrician’s Report

I just got done reading the Developmental Pediatrician’s report/conclusion/findings on Owen…and…it’s depressing. I know it could be SO much worse, but the medical-speak (and length of some sections) is just scary. And I know a lot of the report was just my answers to the questionnaires they had me fill out, but put it all together and it seems so much worse.

Also, I know the doc can only describe what he saw during those two hours we were there, but to hear him describe Owen’s facial expressions as “BLAND, NOT EXPRESSIVE, NOT COMMUNICATIVE” just kills me…because I don’t see him like that at all…but obviously a professional did.

But then there’s good stuff like a picture vocab test he took rated him at an age equivalent of 6yrs 4mo. and another vocab test was 4yr 7mo.

I seriously have to just keep reminding myself that it could be SO much worse…and whatever the professional findings ARE will allow us to get him the help he needs.

Scheduling Evaluations

Getting Owen seen/evaluated at the schools is not as quick a process as I’d hoped…though part of the issue is that Spring Break is next week.

  1. The first appointment for a brief hearing and vision test is on 4/17. They said the paperwork I have to fill out will take longer than the tests. |-|
  2. The clinic appointment for in-depth testing is on 4/20. I’m guessing this will be similar to the tests Owen took with the first doctor and will take anywhere from 45 minutes to 1.5 hours.
  3. The Referral meeting to go over the test results is 4/30 and should take about an hour. We will find out what they recommend as far as any special education type classes.

I guess in the grand scheme of things, it’s not THAT long, but I was hoping it would be a one-day thing I could schedule next week.

EDITED TO ADD: I also scheduled the appointment for the second opinion…unfortunately, however, it’s not until May 30 (the first opening they had)! So that’s a bit of a bummer…but the only thing I can do is call now and again to see if they have any cancellations.

Welcome to autism.

So we finally had Owen’s appointment with the developmental pediatrician to check into his speech delays. We’ve actually been a little concerned since about 18-24 months, but figured he was steadily progressing, so we weren’t THAT worried—and our pediatrician wasn’t super worried, either. But at his 36 month appointment, I finally just bit the bullet and asked the pediatrician for a referral to get Owen checked out—if for nothing else to just ease our minds (if nothing was wrong) or worst case, get started on an action plan (if something was wrong).

Well, we have good news and bad news. I always like the bad new first, so here goes:

The bad news? Owen was diagnosed with autism.
The good news? It’s a very mild form.

Even though I had a tiny inkling in the back of my head going into the appointment…it was still a shock to hear and my head was just spinning from everything the doctor was throwing at me (websites, studies, possible tests, results, terminology, insurance issues, second opinions, yada yada yada). So, really, even now a day later I don’t have a lot of details…

Some points, however (which I’ll probably still muddle, but you’ll get the gist):

The doc said Owen is very intelligent (the tests he took scored him in the normal/average to slightly above average on knowledge), he just has some language issues (things like pointing at what he wants vs. asking for what he wants in a sentence) and possibly even ADHD (how busy he is all the time and his ability to play/play without other interaction).

The doc wants to run a chromosome test (basically just for us to have the knowledge) but he doesn’t anticipate anything horrible since right now, Owen doesn’t fit the profile for any of the severe instances (where he would require more tests).

The official diagnosis is High Functioning Autism. I can (and will) schedule an appointment for a second opinion with a civilian doctor in town, even though I trust and have faith in the doctor we saw. I’ve already started the process to get him enrolled in the EFMP (Exceptional Family Member Program) on base, which qualifies us for additional assistance programs (such as in-home therapy, parenting programs, etc).

The Exceptional Family Member Program (EFMP) is a mandatory enrollment program for all active duty personnel with family members with special needs. The goal of EFMP is to assist military families in managing the dual demands of a Marine Corps career and the special needs of a family member. An exceptional family member includes a family member enrolled in DEERS and MCTFS who possesses a diagnosed physical, intellectual or emotional need that requires specialized medical or educational services. Enrollment in the EFMP program is designed to assist the sponsor with assignment to a duty station where appropriate services necessary to support the family member(s) are available. Installation EFMP Specialists are available to assist sponsors and their family members with the enrollment process, resource, referral, and support before, during and after Permanent Change of Station transitions. Specialists also serve as advocates for EFMP families to ensure access to vital medical, educational and community services. For more information about the EFMP program please contact your installation office.

I’ll have to visit the local elementary school to get him evaluated for an IEP…which, fingers crossed, will allow him to attend preschool there (five minutes from our house). I need to start researching therapists because there’s a waiting list. And I’m sure about a thousand other things I’m forgetting or haven’t thought of/learned yet.

The good thing, however, is that the pediatrician said I’m doing everything right with him (just from watching us interact during the appointment)—so that’s positive at least—and I can just keep keeping on at home.

I have shared the diagnosis with my family and friends and they have all been amazingly supportive. In fact, the comments two friends made really stand out and I want to share them here, so I will remember them forever (and maybe someday I can read them without crying like an emotional pregnant woman):

  • Aaron: Here’s the thing to remember—a diagnosis doesn’t change who Owen is. All it does is attach a label to a collection of his behaviors so that you can get the appropriate assistance to help him continue to develop. He’s still the same child that you’ve been playing with and taking pictures of and sharing stories about that he’s always been.
  • David: That just means he’s even more special!

So, this is sure to be an interesting, frustrating, and eventually rewarding journey… Stay tuned!