I’ll write more later, as I’m too excited to be truly reflective. However, I just got word that our latest round of genetic test has yielded a definitive result. Koan has a mutation on the KCNQ2 gene. There is a spectrum of symptoms that come with this mutation, unfortunately, Koan is on the more severe side of the scale. We believe Koan has Early Infantile Epileptic Encephalopathy (EIEE7). If you want to learn more (like I do!) Check out — KCNQ2.org Here are some salient points in the short term.
- This disorder is not the familial variant — so it did not come from Jeri or me and better yet — Sydney and Tiber have no greater chance than anyone else of seeing this in their children. They are guessing it was a de novo mutation — so completely random.
- As side from his current symptoms, there are no new symptoms or other emergent problems we need to worry about in the future. His life expectancy is as normal for anyone with a seizure disorder.
- It sounds like there are a couple of families of anticonvulsant drugs that work better than others for people with KCNQ2. So, we’ll be following up with his neurologist to be sure he’s on an optimal medication.
- This is an international KCNQ2 community — including two other families in Iowa (Victor and Bedford).
Again, I’m sure there will be more information and thoughts. My head is spinning with all of the possibilities and revelations.