There are constantly new kiddos being added to our CDKL5 family, it is a challenging feeling to describe when I see a welcome message posted into our Facebook group. I am always "excited" to see if there are children around Sonzee's age, while at the same time I know all too well what accompanies the mixed bag of emotions these families are experiencing. What I absolutely love about our support group, is that it really and truly is such a supportive network, made up of parents, family members, and close family friends of children diagnosed with a CDKL5 mutation.
I do not take it for granted for one second how lucky we are to have a group to help us out at the beginning of our journey. There are parents who have only recently learned of their child's diagnosis within the past 6 years; some of those children are in early childhood, while others are teenagers or in their 20's. I am sure these parents wonder about what it would have been like for their child had they been given the advice and shared experiences they are giving to others. If I am inspired by anyone, it would be the parents in this group who continue to give suggestions, insight, and support despite the fact that their child's outcome is not what they planned. Despite the fact that they themselves were not afforded the same opportunity.
As I mentioned I get "excited" when a child enters into the group who is around the same age as Sonzee. However, this is also one of my biggest challenges as well. Due to various ways children are impacted by CDKL5, no two children are the same, much like that of two typical children who do not have any mutations on their CDKL5 gene. However, when a child is introduced around Sonzee's age, and she is able to do things Sonzee is unable to; it makes me a bit breathless. I tend to feel a bit more defeated, more envious, and I ask the question, "well why is their child with CDKL5 able to do that and Sonzee can't".
This week I have been thinking about seizure control and Sonzee's abilities. Of course, it appears if we could just nip these darn beasts in the rear then her brain would have more of a chance to develop. Obviously it is a no brainer that if she wasn't having multiple episodes a day resulting in her sleeping the day away and then taking an additional day to recover that she could be closer to typical development. Unfortunately, we have yet to find our magic combination of anti-seizure medications to do the trick just yet. Additionally, each drug comes with a ridiculously long list of side effects that do not quite assist her positively in the development department either. Despite the potential seizure control, there is still the whole lack of a usable CDKL5 protein issue that she has to "deal" with. It is not as if she will ever be a typical child, seizure freedom or not.
For now Sonzee is completing her Sonzee-stones at a Sonzee the Snail type of pace, and (I tell myself hourly) this is okay. Not really what I want, but it is what it is, and it is okay nonetheless. What I find myself wondering; "Is it better to never have seizure control and therefore the gains she makes while slow and steady won't cause a rude awakening should they be taken away by a seizure? Or would I rather her gain all of the "typical" skills and then spend every minute of my life in a panic that she'll have a breakthrough seizure and loose everything she spent so much time working to achieve?"
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