A quick fall update: Yesterday we finally got to meet up with the McMaster genetics team and get a couple more answers. Amber and my genetic testing came back and we’re both carriers for a rare genetic disorder that’s been linked with infant seizures. One of the mutations is known to cause this disorder when paired with another mutation on the same gene, and while the second mutation they’re seeing in Rowan is currently classified as “unknown significance”, this is basically as close to a definitive diagnosis as we’re going to get at this point.
How rare are we talking? It’s just been discovered in the last decade, and as of last year 87 people have been registered with this disorder worldwide. Obviously it’s not very well understood quite yet, but a research foundation has been set up to try and learn more. It typically presents with seizures beginning at a young age, can cause mild to severe impacts on physical, cognitive, and behavioral development, and can cause issues with his teeth (coming in late, missing teeth, and/or issues with enamel).
This diagnosis doesn’t really change the approach we or the medical team are taking at all, but it just gives us a bit more to look out for. Rowan continues on his three medications, we meet regularly with a physiotherapist and occupational therapist, and we do daily exercises with him to make sure he’s progressing as best he can. And progressing he is! He’s made great headway in his neck strength and within the last couple weeks he’s started rolling from his front to his back. Seizures are controlled for the most part. We went forty days without one but had a couple last week as he outgrew his current prescription. After a recalibration we haven’t had any issues this week.
Hope you’re enjoying a lovely fall with your family… we certainly are!