We had another Developmental Pediatrician appointment yesterday. The hope was that we would get a more concrete diagnosis for Trevor, but that didn’t happen. This was a follow-up appointment scheduled a few weeks after the ADOS test was administered by an OT (if you’re unfamiliar with the ADOS, it is a test for Autism). The basic conclusion of this appointment is that Trevor is a puzzle. Our Developmental Pediatrician is confident there is something more going on with Trevor than just his chromosome disorder, but that he doesn’t know what “it” is. He feels like he’s missing something and wants to get to know Trevor a little better. I do appreciate his honesty, but I would much prefer having an answer.
Trevor scored one point below the cut-off for ASD on the ADOS. The doctor said that should be encouraging, but when he actually observes Trevor he sees those major red flags for Autism. The OT who did his ADOS eval seemed to think Trevor’s social delays were completely due to his trouble with sensory integration, but the Developmental Pediatrician (and I) don’t think that’s the case. He truly has social deficits that you can’t chalk up to Sensory Processing Disorder. And his communication is atypical as well. He can name all 50 states and their locations, but he can’t tell you he’s hungry or tired. He still uses a lot of echolailia as well. But Trevor also has these other wonderful qualities that make it hard to say that “it” is Autism.
In addition to the “is it Autism or not?” question we had hoped we’d get an answer regarding his motor delays as well. Trevor has right-sided weakness and we thought we may end up with a hemiplegic CP diagnosis because of this. But his MRI was clean and the doctor doesn’t see his motor issues as a clear-cut case of CP either. We will be hearing more from the Developmental Pediatrician by the end of the week (he wanted to consult with a colleague before he gave us all of his recommendations) but it looks like we’ll be adding a new specialist to the mix: a pediatric physiatrist. The physiatrist should hopefully have better insight into Trevor’s delayed and asymmetrical motor development.
My boy is unique. And while I would usually consider that a good thing, when it comes to the medical community, unique is not good. It is nothing but frustrating. I don’t want to force a square peg in a round hole. If he’s not Autistic and/or doesn’t have CP, then I don’t want him improperly diagnosed. But I want to know what is causing my son’s atypical development. Why does he have skills that kids twice his age don’t even have yet, but at the same time not have skills that kids half his age have already mastered?
So for now we just keep plugging along. We go to therapy and follow through with it at home. We go to whatever specialists the doctors think he needs to see. And we live our lives. As frustrated as I am with living in limbo I know that whatever diagnosis Trevor ends up with will not define him. It is just one part of him, and we need to remember that (although it’s much easier said than done!).
And on a side note, wish us luck tomorrow. We have yet another doctor appointment tomorrow, this time with a pediatric dermatologist. Because apparently even his rashes are atypical and can’t be dealt with locally. We have to drive out of town to a children’s hospital to have him checked out. Hopefully it’s not another big waste of time and they can actually help us.