Initial Neurological Exam Complete

Raquel had her first neurological exam at Children's Hospital yesterday morning. I was very nervous, didn't know what to expect or if I was prepared to hear the words from the doctor. But it went really well!! He could not have been more encouraging - telling us that we had no reason not to feel very optimistic about Raquel's outcome.

What was really nice was to finally get some answers. He completely ruled out certain things, giving us detailed information as to why a particular disease or syndrome wasn't the case. He doesn't feel she is autistic, doesn't feel she has cerebral palsy, down syndrome, or any metabolic disease. When I asked him what diagnosis he would give her - after his 45 minute exam, plus reading the reports from the Regional Center as well as her medical file - he said, drum roll please... Mild Pervasive Developmental Disorder.

How could he say that after only seeing Raquel for the first time? Because he was able to rule out a lot of things by how she was interacting with Gabby. Gabby always seems to play such an important role in this. They were playing this game they always play with each other. Gabby says, "Head!" to Raquel and Raquel touches her head. Then Gabby says, "Tummy!" and Raquel acts like she's going to touch her tummy, then either shakes her head no, with a huge smile on her face, or she'll touch her head again while laughing hysterically. The neurologist loved watching this exchange - especially since Raquel was really teasing Gabby and being very playful. He was also impressed with how much Raquel understands words. It was very clear to him that she understands much more than she says. Those two things were pretty huge to him. That, and the fact that she doesn't have any atypical physical characteristics that stood out. He said she is just a beautiful, proportionate, little girl.

He put in the request for an MRI as well as a 24-hour EEG. The EEG is to rule out seizures, which he doesn't think she is having but since it's in the file that she lost speech at one point, wants to have this done to document that it's been ruled out. We are on a waiting list for these tests - and probably a 2-month one. Two weeks after the EEG has been completed, we will meet with the neurologist again to review the results of the tests, as well as the chromosome blood screens we did after the appointment.

By no means am I saying that Raquel doesn't have any issues. Of course she does. It was just really wonderful to hear a specialist tell us Mild PDD - especially after the school district painted such a horrible picture of her. Last night was the first night since the IEP that I think I really slept okay. Once I left the neurology appointment, a huge weight was lifted. Even though I never believed the district reports and thought their assessments with Raquel were a complete joke, I still had "severe" in the back of my head, just wondering if maybe I wasn't seeing things accurately. But when I asked the neurologist flat out if he would consider Raquel "severe", he just about fell out of his chair in disbelief and asked me why I would even THINK such a thing. That was all the reassurance I needed to hear. That, plus him telling me to stop blaming myself, that this is not my fault.

The neurologist also prepared us for not ever knowing what the underlying cause is, that the hardest part of his job is to be unable to tell parents what or where or when or how something went wrong.

The bottom line is this: a true diagnosis is irrelevant at this point. What IS relevant is early intervention, and getting her the most therapy and most services available to her. The more she gets the younger she is, the better. And that's what I'll keep pushing for. If the test results show something different, then we'll make adjustments then. Right now we'll just keep moving forward until we hear otherwise.