....life with CDKL5

It has been 13 days since my last blog post.  It is not that I have not wanted to write anything, it is more I just do not feel like I have anything new and/or worthwhile to share.  Things are what they are.  Neither great, nor bad, just what they are.  I suppose overall that is a good thing, but it does not support writing a blog post.  I feel like in the two years I have been blogging, I have already written about most of the same topics that are now on my mind.  The same things happen repeatedly.  There is not much new in the world of CDKL5 and how it has affected Sonzee, and so I feel like I have no new insights to share.  

Life with CDKL5 for me is a life on repeat.  There is the same heartache of CDKL5 sibling losses, lack of milestones achieved, and obstacles to overcome.  There is the same amount of joy felt for the Sonzee-stones accomplished and wishes for her future.  There is honestly a little less emphasis placed on hope, but that is probably due to me being a pessimistic/realist in general and not so much due to the events of the last two years.  Although the past two years have definitely stolen some positivity from my general outlook and beaten me to the core.  Sonzee's health is stable and so we are thankful for that, but that does not hide the pain she experiences daily or the seizures/spasms that come and go as they please.  

I have been spending a good majority of my time these past couple of weeks living in the land of denial and excuse making in terms of Sonzee's seizures and pain.  To be honest, sometimes that place is a comforting place to be.  I will probably do as I usually do when I enter this zone and hide out here until I enter the good old panic mode of desperation that this will inevitably lead to.  Until then I will just carry on, praying things remain calm while we are in New York, and praying for the families who have children with CDKL5 who are in the hospital, just being discharged, or who sadly just gained their wings...because this is life with CDKL5.

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Becoming aware

I prefer to do positive style posts because that is how it's best for me to deal with all things CDKL5.  The past week and a half I have spent each morning deciding which fact I would be sharing about life with CDKL5.  My goal is always trying to balance shedding light on some of our hardships while also putting a semi positive spin.  However, almost two weeks into this CDKL5 awareness month and it's safe to say it makes me more aware of just how tough life with CDKL5 is.

Over the weekend I wanted to share a fun fact or two about CDKL5.  I wanted to capture little bear completing some challenging task that requires her a bit more effort, or her sitting and being happy/content like a lot of other children with CDKL5 mutations.  I just wanted to share a picture of her adorable little smile, or maybe even capture a laugh...but none of those things happened.  So I skipped posting.  It's one thing to go on with our days experiencing each one of them as they come, but it's another to realize that things aren't so great.  I guess I don't give it much thought as a whole, but wanting to write a post makes me have to "accept" what exactly is going on.  

Sadly a typical day for Sonzee begins around 6:30am with her crying.  It takes Sam and I multiple guesses and attempts to calm her before she calms for a bit either in her bouncer, chair, or with some cuddles.  The calmness only last temporarily and then she's back to her cries and screams.  The rest of the day is a gamble of how much she will cry or be miserable.  The majority of days she spends clearly uncomfortable and so we spend the majority of our time trying to figure out what she is telling us so we can fix it.  We usually fail miserably and eventually we give up.  We change her position all day, give her cuddles, the kids attempt to play with her and entertain her- it's usually a major fail.  Eventually it's bedtime and thankfully she sleeps at night or occupies herself quietly in her crib.  Then we get to experience our own real life Groundhog Day on repeat...every day.

It's been challenging to adequately represent CDKL5 for Sonzee and be respectful of what I would think she would want me sharing as far as pictures and her day goes.  I guess this is the whole part of spreading awareness.  Letting others know they aren't alone if their child who has a CDKL5 mutation isn't always smiling and happy and reminding me that it's okay to be angry about the fact that this is the life of our two year old.

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Pause

In approximately 12 days we leave the oven we call Phoenix and head east for the summer.  I am pretty sure the timing couldn't be any better as I am beyond ready for a break.  It is different than needing a Starbucks run or getting a manicure or pedicure.  It isn't the same as wanting to go away from the kids for a night or two.  No matter what we would just be relocating to different scenery, we can't really escape the life we are living, and to be honest I don't want that either.  The way I look at our summer break is that we get to press the pause button.

I am ready to spend two months with limited distractions from the kids.  No (planned) doctors appointments, no therapy appointments, no waiting on hold to nag a distributor because we have been waiting a ridiculous amount of time to receive an item that we were assured we were getting weeks earlier.  I am ready to not have to sync calendars and organize a schedule.  I am ready to not have to wonder what creative rejection Aetna will send us in the mail for an item they have been covering for months on end, but randomly decided they just aren't in the mood to cover it any longer.  I am ready for an actual real life distraction.

I am ready to reconnect with those friends who I follow on facebook and see their adorable family pictures, but whom there wasn't enough time to actually talk to over the past 10ish moths. I am excited to see how our decision (okay, it was really just mine) to drive this year with four children seven and under pans out (this really should be some fantastic fun (sarcasm and honesty included).  I am ready to be surrounded by greenery, mountains, and farms that are tucked away from the hustle and bustle.  I am ready to not have time commitments other than times to drop off and pick the kids up from camp (which Sonzee and I can walk to to achieve and hopefully be on time too).

The last 10 months have been tiring, chaotic, daunting, and waring.  I am ready to get some renewed strength, some umph, and refill my energy tank to full to make it through the 10 months that will follow our homecoming in August.  I am so grateful that we are able to relocate for the summer and get away because I am so beyond ready to hit pause.


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Never ending with GI....

If you have been following Sonzee’s journey for a while now then you are probably aware that her biggest battle has always been her gastrointestinal system.  Since she was six months old she has battled with gaining weight and from trying to solve that issue we found ourselves on a downward spiral in the land of GI.  We started by having a gtube placed, thinking that would solve the problem, but we all know that did nothing to help.  From that point onward it has been a constant battle of trying to keep her health and keep her comfortable, lately, both I feel we are failing with.

When she hit rock bottom last May we had no choice but to start her on TPN (Total parenteral nutrition: Intravenous feeding that provides patients with all the fluid and the essential nutrients they need when they are unable to tolerate anything into their stomach/gut).  We transitioned from TPN to intestinal feeds that went through an NJ (naso-jejunum-from her nose into her intestines).  A lot of people assumed her tube in her nose was going into her stomach, but it was actually bypassing her stomach and going into the 2^nd part of her intestines.  The thought or hope (if you will) was that her stomach would miraculously turn back on and we could get her off the intestinal feeds.  A year later and this has proven to not be the case (I am honestly not the least bit surprised).  When she was finally big enough, we had the NJ removed and they added in an extension to her stomach tube, which is what she has now, and it is a GJ tube (goes to both stomach and intestine).  We only use her intestinal port except to open the stomach side to let out excessive air in the hopes it will make her more comfortable.

She has had various tests performed on her GI system, besides showing she has extremely slow motility (movement of her stomach and intestines as far as processing food and moving it through the system), they all always come back “normal”.  She has spent most her days over the last year miserable, in pain, and uncomfortable from her feeds.  We cannot turn them off because she needs to keep hydration, we cannot run them any slower because she needs to keep hydration.  We are stuck, grid locked by the way her body interprets typical bodily functions such as gas, digestion, and bowel movements.  She was diagnosed back in November with visceral hyperalgesia, which is the term used to describe the experience of pain within the inner organs (viscera) at a level that is more intense than normal.  A diagnosis that gets her nowhere but to take another medication that does nothing to relieve her symptoms. 

I have reached my breaking point with these GI issues.  Her doctors tell me they have done everything they can do.  I agree that they have tested plenty, but I do not agree that there is not some option out there that would be a better answer for her.  We have an appointment with her palliative care doctor next week because her quality of life is far more important to me than the quantity.  She CANNOT be this miserable any longer.  It is beyond disheartening to watch her suffer daily.  There must be some solution besides “dealing with it” and another medication that only appears to be a solution but in reality, does nothing long term.  I am hanging onto a small thin thread of hope that we will reach some sort of resolve next week, whatever it may be…but let me tell you, after the past two years it’s really challenging to believe we will find a winning solution.

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Missed out moments

For those of you who I know personally and were able to view Sonzee's (as of 8 hours and 59 minutes ago) now four year old sister slather lotion all over herself and her bedroom, I hope it provided you a decent bedtime laugh.  For those of you who were unable to view the video, it went something like this.  I went to get a t-shirt out of Sonzee's sister's dresser and noticed she was not in her bed, but instead there was a lotion container extremely messy along with her pillow, sheets, and blanket.  I summoned for her and she came back into the bedroom from the hall bathroom, which I had just walked by, but somehow missed seeing her.  I asked her why lotion was all over bed, and then I noticed it was all over her body, her clothing, her hair, the floor in footsteps...it was EVERYWHERE.  The only thing I did besides ask her what she was doing was call for Sam to come to her room.

While she burst into tears explaining she was extremely itchy all over her body (she has bad eczema) she noticed Sam and I were "holding back" our laughter and so she calmed down.  We of course had to document this moment to look back on as the years pass by as her final hoo-ra of an event as a three year old, and so we recorded the outcome of lathering her body in Eucerin cream to combat her itchiness.  The video goes onto to show her telling Sam it was in fact me who put the lotion all over her and then she gave her signature "get out of jail free card" grin indicating that maybe that really was not the case, but never fully admitting it was in fact her who placed the lotion on her body and the contents of her bedroom.  The video ends with her saying next time she will ask for me or Sam to come and put the lotion on.

After giving her another shower, changing her sheets, and rubbing the lotion off of her furniture and the floor I became a bit sad thinking about the fact that Sonzee won't be able to pull off these types of shenanigans.  These are the moments that unfortunately don't permit themselves in the special needs world, at least not the one Sonzee is in.  Even if she has the desire to do so, she lacks the motor planning and actual physical capabilities of pulling off such a fete.  She is unable to climb out of her crib, grab a lotion container, sit back on her bed and attempt to relieve her itchiness or whatever else a toddler is thinking in their mind.  She cannot rip out pages of a book, get construction paper and attempt to write her own book using the spine of the original.  She cannot sneak into the kitchen grab candy and "drop itself into the stomach without tasting it".  These are just childhood achievements she won't ever get to participate in.

It is moments like this one that are bitter sweet.  Maybe I only appreciate the joy, creativity, and overall fantastic humor of these events because we have a Sonzee.  There was honestly no getting mad or even annoyed, there was definitely an element of surprise and shock, but I was more in awe of her desire to handle the situation on her own and choosing to do so in that manner.  One of my most commonly thought and uttered parenting phrase is "what were you thinking?" and my favorite part is hearing each of my children's replies. However, without their specific replies the event in and of itself is usually momentous and does not require an explanation, so it just sucks we won't get these types of moments with Sonzee.

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