Monday, October 9, 2017


On Sunday we take our older children (with Sonzee in tow) to their weekly swim classes.  During their session in the baby pool to the right of the "big kid pool" is the class for babies 2 months to 6 months old.  Little babies that are getting acquainted with the water while bonding with their mom or dad, or both.  Sonzee participated in this class when she was that age.  I have distinct memories of her sleeping the entire half an hour due to having a seizure before entering the pool.  The other parents would all smile and comment about how cute it was that she was able to sleep the entire time, they never knew why.  I enjoyed that class because it was a time when Sonzee was "the same".  It was a time that I could pretend that she was not developmentally behind.  It was a time that her seizures, CDKL5, and our lives were essentially a secret to outsiders.

Today as I was helping Sonzee's twin girl get dressed, I was standing right next to the baby pool.  I could not help but stare at each baby and his/her individual experience.  There were 5 boys and 1 girl in the class.  Mostly dads were present and they all appeared to be on the younger side of the age range.  The mom or dad was taking a cup with holes at the bottom and letting the water fall over each baby's head.  I took note of all the reactions present; surprise, eyes closed with a squirm, and some pure delight.  I could not help but smile.  It has taken me 8 months to feel ready to blog openly that Sonzee is going to become a big sister in the next 6-8 weeks.  I have had so many experiences along this journey that I have wanted to put to paper, but it was not until today when that first baby in the pool gave such a huge smile as his reaction to the water over his head that I knew I could do it.

Chalk it up to fear of opinions, fear of something going wrong, fear of comments, fear in general, or maybe it is just the uncertainty of how our family dynamic is about to change adding another child into the mix.  Whatever the reason, I could not bring myself to "admit" that our world, Sonzee's world is going to change and deep down I know it will be for the best but on the surface, there is an immense amount of fear of the unknown.  What I have missed most about having an atypical child is the simplicity that a typical baby brings.  Yes, there are sleepless nights, there is the typical parent worry, there is the typical unknown, there are the typical challenges a new baby brings to a family, yet after having a Sonzee there is an appreciation for the simplicity that I am praying to occur with this baby.  Fear is deeply etched into this hope of everything working out the way I am so anticipating.  Sometimes the fear is so suffocating it is paralyzing, not that this baby will have CDKL5 (yes, we checked the best we could for those of you whom I know are curious) but of every other rare situation that could possibly occur.  Once you enter the world of rare you realize how not so rare it is.  However, in the recesses of my mind and heart is just pure faith that this baby is exactly what our family needs to pull us all together and keep us grounded in a manner of simplicity I am ready to appreciate in a completely new manner, all thanks to Sonzee.  

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Tuesday, October 3, 2017


Since Sonzee's CDKL5 diagnosis I have always done my best to make sure that she is looked at as "Sonzee", as an individual, as a person first before the 5-character string that sits "quietly" next to her name on every document that I fill out for her.  To be honest when a doctor uses CDKL5 as their reasoning behind whatever symptom or situation we find ourselves in, it infuriates me to no end.  I have at times considered it to be an excuse, a way for them to place a "blame" on something because they probably do not have a reason themselves as to why she is enduring so much difficulty.  

While I have always felt that her medical team has always held her best interest at heart, there have been so many instances that I felt frustrated with them, thinking that they "just didn't get it".  After all, my rationale was that despite caring for her medically, how could they possibly feel the same way about her as myself and Sam.  After all, they have so many patients, they have so many other priorities, they do not have the time to figure her out.  The situations we find ourselves in with her have taken me on one huge never-ending roller coaster of emotions and it seems around this time of year I tend to have an epiphany and continue to travel on this lengthy journey of grief.

There is usually a situation that occurs that brings the epiphany to light and this year it was our trip to the Children's Hospital of Philadelphia.  We went specifically for Gastrointestinal (GI) motility testing.  Of course, the doctors were aware of her seizures and her overall diagnosis of CDKL5, but I "strategically" did not request a neurological consult while there because I wanted us to just discuss her motility.  I did not want the "blame" to be on CDKL5, I wanted to be told something else was responsible for her situation.  I wanted to know that there was a chance that she could maybe, someday, be a bit more "typical" and tolerate food into her stomach.  Dare I say it, I wanted some "hope".

When we left Philadelphia, that is exactly what we left with, hope for the future, hope for her feeding, and hope for her to be gastrointestinally typical.  I held in my hand an extensive list of potential trials and suggestions and with uncertainty, but "hope", Sam and I walked into her Dr's office this past Friday.  We sat and discussed all of the options, we came up with "the perfect game plan", we spent a ridiculous long time asking questions and listening to what our doctor's thoughts on everything were.  These test results gave us information we never had before, a "reason" behind her issues, and simultaneously the infamous "aha moment" filled my mind as I listened to Sam's final question and heard the answer.  

"Just so we can sleep at night. (Well to be honest I have been sleeping fine), but so we can sleep at night, what these test results show is that her dysmotility was not the result of anything we did?  It was not due to us giving her steroids? It was not due to us having the g-tube placed? There was nothing we could have done to prevent this from happening?"

"No, no, nothing you could have done, this was happening regardless, even before you realized it.  This is just the result of her and the effects of CDKL5".  At that moment I realized how much Sonzee's doctor has been on our side this entire time.  It is so easy to be blind when you are living in the trenches, there is limited visibility when you live in this life.  You pick a team that will hopefully eventually help you to see through the forest.  Just as our doctor left to write out the recommendations and send us on our way I looked at Sam and asked him the question we used to never agree on.  

He went into the hallway and saw Sonzee's doctor standing by her desk and began asking her more questions, the questions that yielded the answers we needed to hear, but did not know to ask.  The answers that proved to us that our doctor was always looking out for Sonzee, but she was also supporting us on this journey.  On our quest to separate Sonzee from CDKL5 we are the ones who forgot to consider the "bigger picture".  No, CDKL5 does not define her.  Yes, despite CDKL5 she can make valuable gains.  But despite only being a 5-character string, the complications set forth from a genetic mutation such as CDKL5 create limitations that will always be present and unavoidable.  No matter what our hearts might yearn for, the specific and individual mutation makes our little bear who she is, and it is the reason she is rare, she is special, and she is HER.

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Tuesday, September 12, 2017

Muddy water....

Image result for quote expectations lead to confusion
When Sonzee was first diagnosed with epilepsy and then shortly after with CDKL5, I would only bring up CDKL5 as the reasoning behind her daily seizure activity if asked, but would just tell inquiring minds that she had epilepsy.  As we added more diagnoses to her file she morphed into what I would begin to refer to as a "medically complex" child.  It was easier for me to summarize her to others with two words vs going into the extensive list of specific difficulties she presents with.  I never really considered that even within the land of medically complex she could be even more complex than any of her diagnoses summarized.  

We flew 2,344 miles from our home to have motility testing ran to help us treat her better.  In my mind, I assumed the results would match up with her symptoms and various GI diagnoses, and they would confirm that her stomach could not tolerate food.  I assumed we might be given different ways to manage her symptoms, but that at the very least her body would perform in the same manner it has for us each and every time we have tried to reboot her system and use her stomach.  Yet here we are and so far every single test is coming back normal.  Do not get me wrong, this is great in terms that her stomach is emptying appropriately, and we have specific evidence she has bad reflux, but it is also extremely disheartening because we do not seem to have a straight forward clear answer as to why she cannot tolerate being fed through her stomach daily. 

I suppose that is an answer, it shows there is no physical reason as to why she cannot tolerate foods.  It shows that theoretically, with time, we could transition some if not all her feeds back to her stomach.  It shows there might be potential for her to be fed by her mouth versus a feeding tube (given she does not aspirate).  However, it leaves us having to sift through the neurological component that is CDKL5.  It means that despite my best efforts to not use CDKL5 as the reason for everything Sonzee related, it seems to be the "only" answer to why that we have left.   

Since she was born I have always been on the search to uncover the cause behind her symptoms.  Maybe that is what all parents do when they are handed their unexpected present of a medically complex child.  In our case we found our overall why and it is known as CDKL5.  Maybe it is just me, but I used to think and say that if I knew the reason behind the "why" that I would be okay, that it was all I needed to know.   Maybe there is just no pleasing me, but I feel there SHOULD be an actual answer to why, other than CDKL5, because all I have learned in 2.5 years is that CDKL5 does not give us any answers and it certainly is not an answer in and of itself.  Then again, maybe there will never be actual answers and I should just stop searching... 

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Wednesday, August 23, 2017


In parenting in general I have always tried to avoid using the words "I will never".  I figured eventually I would most likely become a hypocrite because how could I say "never" when the whole experience was something I had never taken part in and therefore knew nothing about to make such a hefty accusation.  I knew in the back of my mind how I wanted certain things to play out, but then life happens and you just never know what choices you thought you would "never" choose.  

The opposite has been the case when it comes to specific anti-seizure medications.  Once you get thrown into the world of seizures and spasms, and various drug names you quickly get a clever idea of the drugs that you would not want to spill on the floor due to the hazards much less put into your child's body.  From the beginning Sam and I were adamant "we would never" give Sonzee the drug Clobozam, also known as Onfi.  It is a "big gun" anti-epileptic medication, known as a sedative and classified as a controlled substance.  The warnings for this drug are printed in bold on Onfi's very own website.
See Medication Guide and full Prescribing Information for complete information.
ONFI is a benzodiazepine medicine. Benzodiazepines can cause severe drowsiness, breathing problems (respiratory depression), coma, and death when taken with opioid medicines.

I find that we are at an impossible crossroads.  I cannot in good faith let my child seize multiple times a day for 10+ minutes each time.  She cannot keep sleeping and seizing.  On the other hand, our only choice is a drug that could literally kill her with respiratory issues and/or make her sleep all day long.  As usual the question of "quality of life" presents itself in a more pronounced manner.  She does not have much quality these days with her seizing schedule.  We are at the point where we must take the chance.  We must play Russian roulette with our 2-year-old and we must pray we will not regret going back on our never.

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Tuesday, August 22, 2017

Playtime Interrupted

Oldest: "Ema can I play with Sonzee in my room?" 
Me: "Yes, just be careful when you push her in the chair not to get her wires tangled"
Oldest: "Come on choupers, let's go"
(Some time goes by)
Oldest coming to me: "Ema, Sonzee is having a seizure, why does she always have a seizure when she is having fun?  I was reading her a book and she was smiling and all happy and then she had a seizure's not fair"

Our oldest was just 5 years old when Sonzee was born.  An innocent, light brown haired, blue eyed, loving, caring, full of personality, dancing, playing around, typical big sister who has always loved to dote on her siblings and had to learn at the age of 5 what a seizure looked like in a newborn baby.  At 5 years old, she was wise beyond her years, but still a bit too young to fully understand or grasp all of what CDKL5 meant for her youngest sister.  Sam and I have tried over the past 2.5 years as hard as possible to protect her little mind and heart, answer her questions, give her only necessary information, and essentially trying our best to support her innocence a little longer.  However, our little girl is becoming older, smarter, and now at the age of 7.5 she understands more, hears more, knows more, feels more, and hurts more. 

I am not quite sure what hurts me most about Sonzee's seizures during her sibling playtime, the list is so long.  I hate that it disrupts a happy moment occurring between them all.  I hate that she has seizures in general and they occur so often that this conversation happens at least once a day.  I hate that our oldest must experience at 7.5 what I do now at 33.  I hate the sound of defeat our oldest has in terms of her play session being cut short due to the seizure "because Sonzee was having so much fun".  I hate that my only answer is "I know it stinks you guys were all having so much fun".  I hate that our 7.5-year-old rebuttals with "why does it ALWAYS have to happen".  I wish my reply could include more substance than "I don't know, it is such a bummer".  It ALL hurts.  It ALL breaks my heart.   

The silver lining comes at the end of the seizure, when I relocate Sonzee to her bed to rest and her oldest sister asks if she can finish reading to her in her room.  Our oldest and I have one of our typical sevenager disagreements because she wants to show Sonzee the pictures and cannot reach her crib, and I assure her it is ok, Sonzee will just listen because she is too tired at this point to look at the pictures anyway. I leave the room to two sisters, the 7.5-year-old reading to the 2.5-year-old and can almost for a split second forget the events that preceded and the fact that one of them has intractable epilepsy.  I will replay the events in my mind and will pray that tomorrow's playtime will go differently, but first I will memorize this image...because this gives cushion to the pain.  This love that our oldest has for her "twin-girl" is something that brings tears to my eyes.  She has her own twin size bed, with a memory foam mattress (that I personally think is extremely comfortable), but instead insists on sleeping on a toddler bed in Sonzee's room.  This brings me a wave of comfort even if it is just a ripple.

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