CDKL5 Awareness 2020

It is after midnight on many of my friends' Facebook pages.  The June 17 CDKL5 awareness posts are starting to consume my newsfeed.  I read them and the tears fill my eyes.  We are all on different journies, yet the same path, and no matter what, it's a heartbreaking one at that.  What is there to say?  How do we really make others aware of the significant impact of one teensie tiny genetic error?  There is no one storming the streets demanding a cure, yet some of us wish we could storm the gates of heaven to see the children who were stolen from us.  There is no one who has found potential cures skipping every potential phase of a trial in order to speedily find a way for those children who are left here to not have to continue to live in silence, enduring thousands of seizures, and with significant developmental delays; yet many parents and family members attempt to make the world aware that something is needed by sharing their individual stories.

I honestly haven't figure out what it takes to get onto Ellen or make a big enough deal that anyone who is a someone will fight for our rare cause.  A cause that isn't reaching into the homes of every single person in this world due to any lack of trying.  I assure you every parent of a child diagnosed with CDKL5 Deficiency Disorder does their damnedest every day of their lives to try to eradicate the nasty impact of this disorder on their child.  It is literally a fight to the death type of attempt, the worst game of beat the clock, and yet sadly many best efforts are just that...efforts that ultimately come up short because sometimes your best just isn't enough.

We have been lucky to have been able to "celebrate" CDKL5 Awareness day for every single year of Sonzee's life and now the first of her death.  Ironically when she was a baby we were told by so many parents of diagnosed children how lucky we were to have a diagnosis at such a young age.  I never felt their extended joy on the topic, and thankfully those parents don't share the same pain we are living now without her.  While there is a sense of relief in having an answer as to why your child is seizing, why they are not making eye contact, why they are not meeting developmental milestones, why they are struggling with feeding issues, why they are unable to be fully functional members of society, there is absolutely not one ounce of luck that comes with having a CDKL5 diagnosis, no matter the age of diagnosis. 

I wish June 17 wasn't another day that is tainted forever.  I wish June 17 meant more to more people and that all of the awareness efforts were not in vain.  I wish that June 17, 2020 was the very last CDKL5 Deficiency Disorder awareness day that was needed to share with the world the devastating effects of a CDKL5 mutation.  And for now, we are left to making Facebook posts that hopefully people share and to dressing in lime green, with the knowledge that some of us don't even have our children to do that anymore.

Just wish....

Sam's first car when we met was a 2001 Honda Accord. It was 2 door, greyish-silver, and had an Israeli flag bumper sticker on the back right side.   He was so in love with this car, although I had a different opinion.  The car had so many different issues, the timing belts needed to be changed, the spark plug wasn't doing its thing and then the radiator started to overheat.  He would try these little cheap fixes and I would tell him he was wasting his time because he was eventually going to need to get rid of it.  After we got engaged and we agreed to move to Arizona, he mentioned he was going to drive that little car 1300+ miles across the country.  I laughed so hard while I told him there was no way that his favorite car was going to make the journey.  He disagreed.

By Spring of 2008, he finally decided he should take the car to the nearest dealership, which was about 40 minutes away in Valdosta Georgia.  So together we got into the car and started to drive.  About halfway into the trip the car began to smoke.  We pulled over and the radiator (again) needed to cool off.  He was so used to "fixing" the radiator, so it came as second nature.  While I sat on the side of the road he got a ride from a nice older lady to the nearest gas station to get some water.  When he returned, he poured the water on the radiator, it cooled off and we continued on our way.  It was finally time, Sam knew it was time, he still would have rather held onto the car, but he did admit it was time, and so he let it go.

I couldn't sleep last night, and at 3am I laid starring at the ceiling when this story popped into the forefront of my mind.  So many similarities from this experience, however, instead of a car, it is our little Sonzee bear.  Her entire life we have spent trying to put putty in all the water holes that have presented themselves, albeit never fully successfully.  Eventually, you realize and accept there really is nothing that you can do to try and fix the problems.  No amount of interventions can compete with the fact that her body is telling us it is tired.  It is not in the, I need to lay down and take a nap type of presentation of tired.   But in the "I cannot regulate any of my bodily systems appropriately for things to function" manner.  It is beyond devastating and really impossible to have to accept that there really is nothing left for us to do, we really have done everything for her.  So, what is left for us to do, is to respect what her body is telling us, respect what she is communicating to us and respect this process as horribly painful as that really is.  So to summarize the only way I know how, I give honor to one of the famous quotes from Steel Magnolias, "We should handle it the best way we know how and get on with it. That's what my mind says, I just wish somebody would explain it to my heart."

Still...Always...Forever?

A picture popped up on my news feed the other day.  A little girl...also diagnosed with a CDKL5 mutation...who was sitting.  I wish I could understand why despite the fact that I have accepted it isn't part of Sonzee's fate, it still tugs at my heart whenever I see a similar type of picture.  I know I shouldn't compare, I know no CDKL5 mutation is good, I know it all sucks.  However, it immediately makes me wonder, "why couldn't that be in the cards for Sonzee?", "why does her mutation not allow her to do that?", "Why did no amount of money or intensive therapy buy her that ability???"

I understand this is part of this journey.  There will always be struggles for Sonzee in essentially every life category, and there will always be struggles for me on the emotional/psychological and in some cases even physical categories.  It is one of those times it is safe to say the word always.  It isn't an exaggeration, it is just a fact.  Situations that have already occurred, ones that have and will continue to reoccur, and the ones we have yet to encounter, there will always be something, thanks to CDKL5 Deficiency Disorder (CDD).

Despite knowing that these situations and feelings are going to continue to pop up it doesn't help. I try not to get too far ahead of myself thinking of things she isn't or won't be able to do as the years continue to go by, but the facts are always there.  Usually right in front of me in such a blunt way that it is hard to ignore, like having to change her diaper at almost 5, or having to carry her like a newborn at almost 5, or having to feed her through various tubes.  I try to wake up each day and tackle it anew, without anything hanging over me, but the fact that this is going to be forever...it makes each little thing that much more difficult.