I was sitting at home this morning when the text message alert came through my phone. It was from a close friend of mine. Someone who I have gotten increasingly close with over the past 9 months, as our daughter's both have a CDKL5 mutation. Our daughters' like all of the children affected by this merciless string of characters, vary greatly in skills and overall path they follow, yet as parents it always boils down to us having the same emotions and a level of understanding that only other mom's and dad's on this journey can relate to. There was an urgency and panic in her text that was palpable even though texts can sometimes leave the reader uncertain, there was no uncertainty. CDKL5 has a way about itself, it can take a child who is doing absolutely amazing (in the world of CDKL5) to death or close to it in a matter of moments, imminently without a warning. How are we as parents supposed to cope?
It has become crystal clear in my 18 months as a member of the parent support group that it only takes a second for our world to be turned upside down. For us specifically, I don't even need the parent reports of fellow CDKL5 siblings to know this, we HAVE lived this ourselves. There is always a balance of celebration at the attainment of a "Sonzee-stone" along with potential fear of the skills loss. The knowledge that the skills our children with a CDKL5 mutation achieve are not theirs to keep forever is sadly our reality, but yet there is always hope. The hope of maintaining seizure control for as long as possible mixed with the reality of "refractory epilepsy" as a symptom of CDKL5 mutations. The fear that even though our children might have a brief stint at seizure freedom, it only requires one to take their life. It's suffocating. It's heartbreaking. It's impossible to live with, yet we have no choice.
My advice to my friend is obvious, "Don't focus on what might happen, just enjoy everything she is doing now". I should really smack myself for even writing those words, I would internally roll my eyes at someone who would suggest that to me, and truthfully, I don't believe in these words myself. There is no way to live this life without fear, yet there is no way to live with it. Either way there is no winning. Living in the moment, that is what all of us affected by CDKL5 or a similar type of genetic mutation or terminal illness must do; and we do just that each and every day. Some days are easier than others. There are days where the thoughts of the future leave us scared, numb, and paralyzed. Then there are days where we just focus on the here and now because that is the only way to breathe.
There is no preparation to do once your child receives a diagnosis such as CDKL5. There is no way to every fully accept everything that will be thrown our way. I used to wonder if I would rather Sonzee never have seizure control and never gain skills because then I wouldn't have to worry about the day the seizures return or the day the skills disappear. Our days of seizure freedom might not be as long as other children, and the goals Sonzee attains might not be as advanced or last as long, but I wouldn't give up the 52 days (non-consecutively) of her life she hasn't had to suffer at the hands of a seizure. No matter what the future holds I have documented a ridiculous supply of pictures and videos to help me through whatever dark days might be ahead, and I will look at them with a huge smile on my face remembering just how happy she was during those moments.
And that is what gets me through the days when panic sets in.
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