I recently participated in an online CDKL5 poll where the question suggested we choose the top three challenges that impact our child with CDD (CDKL5 Deficiency Disorder) the most out of the list of options provided. I made a sarcastic chuckle while I sat at the computer at work typing up my notes from the kiddos I had worked with earlier. I wondered, "Is this a joke?! Am I really being asked to prioritize what I perceive as my 4-year-old's biggest struggles from a list of around 10 items? This has got to be the worst real-life version of the game “would you rather have and/or be?! ever played" While I appreciate and completely understand this information is vital to assisting with potential treatment options, the concept behind the question and the question itself stirs up so much emotion.
The choices to rank were essentially every deficit CDKL5 could present with in a diagnosed child. The only one that for us thankfully has never been an issue is lack of sleep, which is typically one of the most challenging effects of having a CDKL5 mutation, but at least one was knocked down on my list. I am pretty sure she is only spared of that due to her ridiculous seizure activity that results in constant sleeping. Otherwise, the list was comprised of all the challenges we are faced with and essentially zero way for me to identify which one is of highest priority for her to be rid of.
She still has uncontrolled, daily seizures, so naturally that is at the top of my list since they are definitely not comfortable for her, they take away her already limited quality of life, and they make her sleep away her days. But are they worse than her GI struggles? Those struggles for her are insurmountable, so much so that her stomach is completely unable to process even her own bile requiring it to be drained 24/7, she receives a portion of her feed directly into her intestines AND because that wasn’t sufficient to help with easing her pain OR providing adequate nutrition, she also has a central line so she can receive nutrition directly into her veins. If I had to prioritize maybe this would be of highest acuity?
I do think that GI and seizure control are areas that are most important for researchers to tackle, BUT there was also the option of communication. You mean I now have to decide if our inability to communicate with our child outweighs the seizures and GI challenges?! How do you even explain to someone what it is like to have NO idea what your child is experiencing, thinking, wanting, and or feeling?! Every moment with her is equivalent to playing a game of charades with a newborn baby, EXCEPT she is 4 AND she makes ZERO functional hand/body movements. I am sure she has plenty of thoughts and opinions BUT they are LOCKED inside her brain with an inability to get out. Even with the eye gaze device, she was provided, it is useless because she is so significantly impacted by her cortical vision impairment.
In addition to those areas, there was also the ability to sit, bear weight, and or walk. She does none of the above. I wish she could at least sit, the amount of benefit that would give her body would be indescribable. Maybe if she was bearing more weight and could take a few steps she wouldn't be phased with such severe osteoporosis that requires bisphosphonate infusions that we have stopped doing because they negatively impact her quality of life and the benefits do not outweigh that fact?! Maybe if she were able to get up and move freely she wouldn't have suffered 12 fractures in a year due to significantly weakened bones?
There were other options listed, but for the sake of the post I will stop here. I wish there were a way for me to be able to answer what three struggles impact Sonzee the most, which three deficits I would say need curing the most, but the reality of CDKL5 is that her struggles are not limited to just three. Fixing three or improving three while a great start, does not help when there are at least 3, 4, or more equally as negative struggles left waiting to be fixed. Maybe I am selfish or wrong for wanting all or nothing, but there is no amount of potential suffering that is okay for any person. There is no symptom/deficit/etc. that does not need to be cured. There shouldn't be a priority list or a list that parents should have to choose which challenge is more significant than another. CDKL5 mutations should just not be able to occur in humans and if they do, there needs to be a way to eradicate every single challenge that comes with it, so no person or family should ever have to wonder which struggle matters more!