While I don't regret any decision that we have made for Sonzee, I do often wonder how a different one could have maybe, possibly, affected her presentation with CDKL5. Deep down I know that really the impact of severity lies mainly in how the mutation itself blends within her body, but it doesn't stop me wondering about "what if". The challenge I have with "what if" is far back do I go? Where exactly does my one small change begin?
While the obvious choice would seem to go back to around the time her mutation occurred, for this specific exercise it isn't the ideal choice. I need her to have the mutation in order for me to let this alternative "choose your adventure" book to unfold. With the intention clearly outlined I would go back to our headstrong desire to wean Topamax. The drug that we understood only afterward was also referred to as "dope-a-max". The drug that we also learned mid-wean in some children can actually keep the brain activity clear of hypsarrthymia. The one diagnosis we prayed she would never receive because that would mean she fell victim to x-linked dominant infantile spasm syndrome-2. That diagnosis was listed on the right side column of her genetic report that I had specifically asked her doctor if that meant she would have. The one that her doctor replied to with, "I would like to think not", and yet, we knew she had at least 50% chance of developing due to the fact that CDKL5 is an early infantile epileptic encephalopathy-2.
Had we never weaned Topamax would her EEG background never have developed into hypsarrythmia? So many spirals down the rabbit hole came from that one diagnosis. Would she have gained more skills vs the regression that we never noticed until we looked back on pictures of the skills we had forgotten she once acquired? Alternatively, would she have never emerged from the fog that we didn't realize she was in due to that same drug?
Even though it practically went hand in hand with the date of her last dose and when her background shifted, I suppose we could say she was bound to get hypsarrythmia regardless? Maybe it wouldn't have mattered what we did because she was meant to be the 50% to keep the statistic what it is? I really do not regret our decision to wean Topamax, we did the best we could with the information we had at the time, and I will chant that mantra for the rest of my life. But I would definitely love to know if we would still have the same Sonzee and the same outcome of her EEG background with just having gone through a slightly different journey