Same place different year

It is 10:45pm on March 20, 2017 and we are in room 8128.  We do not normally face north so this is a nice change of view for me, instead of watching the planes fly into Sky Harbor, I get to watch the cars drive on SR 51.  Since March 2015 during this exact week I have found myself surrounded by the same walls, in various identical rooms, and usually cared on by a friendly face.  With a stroke of luck, it just so happens that tonight we are with one of Sonzee's very first PEMU nurses.  One of the benefits of the experience is when the nurse coming to take you to your room opens the door and says "welcome back" and you see the same smiley face that has been there to wipe your tears in the past.  

There are so many adjectives that I have in my mind to describe being in this predicament; comical takes the lead, followed by unfortunate, nervous, weary, relieved, eager, and my list definitely goes on.  I foolishly started to think that we would slide right past this anniversary without celebrating in Sonzee style.  I suppose that is what I get for getting too overconfident, for thinking that things could actually take a positive spin for little bear.  This is the part that hurts me the very most.  I just cannot understand why my baby girl just cannot catch a break.  Every time I start to see a small glimmer of hope it just gets ripped away.  I really am having a huge challenge comprehending this reoccurring Groundhog Day type of testing.  Clearly something is not being done correctly or it would have stopped repeating already.

This is one of those parts of living the medically complex special needs type of life that makes you muster all that is inside you and push through because there is no other choice.  There is no other way to make it through these times without reminding yourself that there is clearly a reason for all this pain and anguish and it will one day be revealed...unfortunately it was not in 2015, 2016, or 2017...and in 2018 I will just buy Sonzee a cake and schedule an in-home party for the week of March 18.

Mommy bloggers, Join me @ Top Mommy Blogs

"hope"

Hope.  Another small string of characters that play with my emotions on a daily basis.  I rely so heavily on this word and its definition, yet at the same time, I would prefer not to give its meaning any time or day.  There is a reason I have a love and hate relationship with this word.  It is one of those words that can make you feel elated and excited.  It can give you something to hold onto when there seems to be nothing to grasp.  Then on the flip side, it allows your mind to wander into a dangerous territory, into the unknown, and to give homage to Gene Wilder, "in [to] a world of pure imagination."

Hope is something I prefer to keep in my back pocket because I am more grounded without it.  There are those rare situations where my guard is mysteriously let down and I let hope sneak up on me.  I really dislike when that happens because when the situation unfolds in a manner that wasn't part of my dream of hope, well, it is safe to say it takes some time for things to get back to normal (and yes, definitely ice cream).

I predicted the results of Sonzee's EEG.  She has done enough of them (18 to be exact) for me to qualify myself as an accurate EEG result predictor.  I am by no means saying I could translate the actual EEG itself, but I can give a fairly accurate description of how the reading will be interpreted.

On Monday I shared my predictions, "I am pretty positive the reading will be "typical Sonzee", with her usual spike waves here and there, but nothing too shocking for a child with a CDKL5 mutation.   What I did not really say in my post were the words on the soundtrack that was playing in my head.

I did not share that there was a part of me that hoped and almost believed the reading would be "typical".  I had dreamt in my mind that her epileptologist would write to me and say, "Randi, this is her best EEG ever.  There is no seizure activity and her background is normal".  Along with the monologue in my mind, I envisioned Sonzee sitting, alone, unsupported.  I pictured Sonzee's picture watermarked with not only "sonyasstory", but also as an advertisement of how a medical cannabis product had completely changed her EEG.  Do not get me wrong, the RSHO is helping her cognitive capabilities (we think?), but nothing has performed the miracles I had hoped.

So now, I am sitting here thinking about hope.  Aggravated with the word even more because it is a necessary evil in order for me to travel along this journey, I would not be able to survive without it.  Yet I am so drained from repeatedly having my hopes blow up in front of my face like a latex balloon (if you are unaware of my fear and hatred of latex balloons, consider this the moment where I let you in on my secret).  While I am so incredibly thankful, that Sonzee's hypsarrhythmia is NOT back.  I am definitely saddened and disheartened that her EEG was not what I dreamed it to be...I guess that is just par for this course.

Mommy bloggers, Join me @ Top Mommy Blogs

Realization

It's EEG day.  I am much more relaxed about the possible results since she started Sabril 2 weeks ago.  I honestly do not expect to be told she has hypsarrhythmia, nor would I expect her background to be typical normal.  I am pretty positive the reading will be "typical Sonzee", with her usual spike waves here and there, but nothing too shocking for a child with a CDKL5 mutation.  Yet I am sitting here for the first time in her life wondering why we are even doing this EEG in the first place.

I have known since her diagnosis that seizures were the most challenging component of a CDKL5 mutation.  We have lived in a constant state of fear that they will cause significant brain damage or take her life.  We have treated her spasms (the most dangerous to development at her age) with steroids and now Sabril.  We have chased after complete control with practically every marijuana and hemp based CBD oil, along with straight THC (go ahead you can judge us).  There is always that wonder about what Sonzee would be like if we could control the seizures.  The fog of seizure control completely taking over the simple fact that she will always be missing a complete CDKL5 protein. 

Despite knowing that seizures are just another side effect of her missing protein, I often forget that even if the seizures are controlled, she will not ever be typical.  Even with complete control, she will always have challenges.  Truthfully, with complete seizure control the types of challenges I have seen in other children with the same diagnosis are in my opinion sometimes more challenging.  To the naked eye our kids look typical, but get up close and it is clear they are not like the average child.  

There really is no winning when it comes to the outcome of Sonzee's EEG results.  No matter what, the outcome is still the same.  If her background is typical, she is not going to miraculously be a typical 18 month old when the leads are removed from her head.  If they are typical Sonzee results, well then tomorrow is just like every other day she has had.  If for some reason my mom gut is on a complete vacation and it turns out that she does have hypsarrhythmia, well I am pretty sure Sam and I are not having her endure another round of steroids.  I personally cannot put her through that again myself.

I am coming to terms with the realization that no matter what we do to stop the seizures, there is nothing we can do to change the importance of the CDKL5 protein...and for that, I need to go and buy myself some more ice cream.

Mommy bloggers, Join me @ Top Mommy Blogs

CDKL5 Phases of Seizure Activity 101

As mentioned in my previous post CDKL5 Genetics 101, a mutation on the CDKL5 gene causes negative repercussions within the brain.  Along with severe/profound developmental delay is of course the most visible "side effect"; seizures.   

Before I begin the "CDKL5 seizure guide", I will introduce you to some common epilepsy terms.

1. EEG: Electroencephalogram: a test that measures and records electrical activity of the brain
2. Abnormal EEG: When there are changes to the normal pattern of brain activity
3. Hypsarrhythmia: is an abnormal pattern on the EEG occurring in-between seizure activity, frequently encountered in an infant diagnosed with infantile spasms
4. Infantile Spasms: Clusters of short spasms that last several seconds and chaotic brain wave patterns on the EEG
5. Tonic seizure: tone increases and arms/legs stiffen and straighten
6. Refractory epilepsy: seizures that are not controlled with anti-epilepsy medications

The "CDKL5 seizure guide" can be broken down into three phases.  Early Epilepsy, Epileptic Encephalopathy, Late Multifocal and Myoclonic Epilepsy; Phase 1, Phase 2, and Phase 3 respectively. 

Phase 1

• Brief seizures beginning between 1-10 weeks old
• these seizures are less than 1 minute long
• can occur frequently
• approximately 2-5 a day
• The background of the EEG is normal in majority of cases except when a seizure is occurring

 “Typical" Development for a child with CDKL5 mutation at this time

• poor eye contact
• low muscle tone

Phase 2

• Infantile spasms 
• Brief tonic seizures
• Hypsarrythmia

 “Typical" Development for a child with CDKL5 mutation at this time

• profound mental delays
• low muscle tone
• no language or visual interaction
• no developmental progress

Phase 3

• Severe refractory epilepsy even with the use of anti-epileptic medications
• varied types of seizures 

 “Typical" Development for a child with CDKL5 mutation at this time

• profound mental delays
• low muscle tone
• no language or visual interaction
• slow developmental progress

----
** It is unclear if every child with a CDKL5 mutation will follow the course mentioned in this post...this is based off of recent studies done on seizures and children with CDKL5 mutations.
----

How does this relate to Sonya?

Right now we are finding ourselves in a sort of "holding pattern".  We seem to be in-between Phase 1 and Phase 2.  Sonya has "epileptic spasms", which are similar to the infantile spasms but with no hypsarrythmia.  She also has tonic seizures.  Typically she will have a seizure every 24-48 hours that lasts less than 3 minutes.  Occasionally this "one" seizure will present itself as a tonic seizure lasting 1 minute and then immediately followed by spasms lasting from 1-2 minutes.  During the spasms she has between 5-25 seizures within those 2-3 minutes.

There is a 50% chance that Sonya will never have the abnormal hypsarrythmia background. The treatment "options" we will be given at that time do not have a 100% success rate of eliminating the abnormal background, and the side effects can be fatal.  I will save that information for another days post.

I would much rather leave you with this gem.