Fragment I

My thoughts are, at best, very scattered now, my mind racing a million miles a minute. Bear with me.

I have read, reviewed, and re-read the email from Jackson's Genetic Neurologist detailing the findings from his MRI. After the most recent re-read, I realized I completely missed the first finding, Unilateral Cerebellar Hypoplasia. So I did what any technologically savvy mother would do and I Googled it. I found it on the NINDS website, which can sometimes be too much information, if you know what I mean.

It was alarming to read the description, particularly because of the reference to Ataxia Telangiectasia which has been a topic of discussion for us before. Jackson now has two of the classic markers of AT, a thought which leaves me anxious. After careful consideration and a discussion with Jason, I emailed Ronni (Genetic Neurologist) to clear the air. Fully expecting a scolding for spending too much time online, the reply I received was not so light hearted.

His reply was as follows:

"Despite the finding of unilateral cerebellar hypoplasia, I still think that Jackson does not fit the clinical phenotype of children with AT, the MRI findings in patients with AT (regarding the cerebellar hypoplasia) are much more pronounced and probably more importantly, as far as I know, have never been shown to exhibit periventricular nodular hypoplasia. I also think that the periventricular nodular hypoplasia finding is the most significant finding on Jackson's MRI.
Having said all of this, as we have discussed before, most of genetic syndromes present with a wide variety and Jackson is still young enough to not present with the all the classical features of AT. Therefore, if you want us to rule this out, we can look into it."

Translation: We cannot say AT is not a possibility. They only way rule it out is to perform expensive time consuming genetic testing. An option we are set to discuss with Ronni this afternoon in his office.