Sorry, I think this is going to be long so please bear with me… We finally saw a Pediatric Neurologist. It was through the Regional Center and not privately so they don’t do diagnoses, but it was still very interesting. (The reason for the appt was to assess if Kirby is still eligible for their services.) I liked having the opinion of the medical side of things as opposed to just the behavioral side. Overall it went well, they looked at Kirby’s behavior as well as checking him out physically. He has a little bit low muscle tone which is nothing new but he said that he recommends (just for our own personal information) getting some genetic testing done. He said that Kirby has a little bit of a couple physical characteristics of a few possible genetic disorders. Like maybe Fragile X, which I have wondered about for quite some time. He has most of the symptoms for it…like double jointedness and a few others that are not necessarily autism symptoms.

What I also found to be intersting is he also highly recommends that we get an EEG done. Apparently the times where Kirby seems to “space out” could be some sort of epileptic problem…and get this…if he had this, it’s TREATABLE. The symptoms are very similar to autism and when treated they virtually disappear. He gave me the names of what he was thinking of: Landau Kleffner Syndrome and Acquired Epileptic Aphasia. (Aphasia means loss of language.) He said they are very rare and to not even begin to get my hopes up but he said it would be good to do it just in case.

I was a bit surprised about the physical characteristic thing though. He said specifically something about the shape of his upper lip (being thin or something) and also about his eyes…I guess they angle down a little bit. PLEASE no one tell me they have noticed this. I had someone say that and it wasn’t exactly what I needed to hear. So even if you noticed anything about how he looks please don’t tell me.

Anyway, he did say that if he were going to diagnose him, he would definitely diagnose him as having autism. Mild, but definitely on the spectrum. And his prognosis looks good in his opinion. He said look at the past to see the future…so basically if he has improved in the past, it’s a very good chance that he will continue to improve. Thankfully he has improved in almost every area…the language has been somewhat stagnant but we’re attributing that to the apraxia (which his speech pathologist said last weekend that she definitely thinks he has). We’re also looking into the possibility of him having hyperlexia (which he can have in conjunction with everything else). So no “official” diagnoses, but I guess you could say we have preliminary ones: autism and apraxia and possibly hyperlexia.

Here’s some info on hyperlexia:

What Is Hyperlexia?

Hyperlexia is a syndrome observed in children who have the following characteristics:

– A precocious ability to read words, far above what would be expected at their chronological age or an intense fascination with letters or numbers.
– Significant difficulty in understanding verbal language
– Abnormal social skills, difficulty in socializing and interacting appropriately with people

In addition, some children who are hyperlexic may exhibit the following characteristics:
– Learn expressive language in a peculiar way, echo ro memorize the sentence structure without understanding the meaning (echolalia), reverse pronouns
– Rarely initiates conversations
– An intense need to keep routines, difficulty with transitions, ritualistic behavior
– Auditory, olfactory and / or tactile sensitivity
– Self-stimulatory behavior
– specific, unusual fears
– Normal development until 18-24 months, then regression
– strong auditory and visual memory
– Difficulty answering “Wh–” questions, such as “what,” “where,” “who,” and “why”
– Think in concrete and literal terms, difficulty with abstract concepts
– Listen selectively, appear to be deaf

We are definitely going to get a second opinion, we already have the referral. And we’ll have to set up the EEG with our doctor, the Regional Center won’t do that. He does still qualify for their services, but not the type of services he has now. He just qualifies for family support services (someone to go to IEP meetings with us, etc.) Kids have to be severely handicapped to be able to continue services with them. He’s in the hands of the public school system now (which we expected, this meeting was a formality of the whole process).