Wednesday, October 28, 2015

Mommy Instincts

I am usually confident in my parenting choices, usually secure with any thoughts related to our children's well-being.  After I analyze facts, I make a decision and I trust that my instincts won't mislead me.  If I feel one of the kids has strep, when I take them to the doctors and request the swab, I am correct.  When they have a cold, I am typically good at telling whether it will pass on its own or require medication.  I am usually right on with my mommy instincts.  However, as we journey further into the neverending desert of CDKL5, I feel like I am losing my footing.  It is as if I am standing in quick sand and no matter how much I try, I am being swallowed alive.  I have lost my ability to differentiate between what is “typical baby” versus what is cause for concern.  I am so frustrated I am in this position because I don't know what is "red alert" and what is "yellow alert". I find myself second guessing every thought, every decision, and every idea that infiltrates my head.  In short, I have lost trust in my mommy instinct.

This makes me sad.  This makes me angry.  This makes me fearful.

I first took notice of my disappearing instinct about two months ago.  Sonya was fussy and she kept throwing her head back.  It went on for about four days and each day I grew increasingly concerned.  I mentioned to somehow she had been similarly cranky about 3 weeks prior, and she was diagnosed with an ear infection.  The thought never occurred to me that she could have another ear infection so close together; and no way could she just be a cranky teething baby.  Naturally, I assumed she was experiencing symptoms of a sensory integration disorder.  I went onto Amazon and like all moms who have a cranky baby who tilts her head; I purchased two books about a sensory processing/integration disorder and called it a day.  It was the following night when talking with Sam that my lightbulb went off and I realized I should probably bring her back to the pediatrician.  In the end, it was another ear infection.

My second experience was after watching Sonya make movements during her sleep, which caused me to panic.  I am starting to think I may have some post-traumatic stress from this whole ride.  Every little twitch, jerk, head movement, sigh, blink of her eye, change of her breathing, or slightest change to her sleeping demeanor has me leaping from the bed hovering over her like a helicopter.  Could it possibly be that she is just moving in her sleep and making a typical baby movement?  Nope, psycho mommy over here is 100% sure her brainwaves are now in a constant state of seizure.  It is only natural to schedule an EEG to rule this out so I can go back to being a neurotic, sleep deprived, hovering mommy; after all, it seems to be working out just fine.

We can skip over plenty of others and focus on the current situation.  Sonya has been in and out of the pediatrician's office for two and half weeks.  Both of her sisters finished antibiotics this past weekend and so I was nervous she would catch strep as well (yes, I know it is so rare for any child under two to get strep.  I also happen to have three kiddos who ALL had strep when two or younger and one of them did not even have his tonsils...so I tend to have over achieving rule breaking children).  Each time I have taken her in, they have told me it was "just a cold".  Over the weekend, her cough grew worse and so I had a panic attack when I remembered she never had her DTap shot, and what if she has pertussis?  The doctor humored me by doing the swab (results will be back next week) and gave us another round of antibiotics to get rid of the potential "sinus infection" she might have resulting in all of her symptoms.  She has been sleeping a lot more than she has been awake and while I am slightly concerned, my mommy gut is numb.  Am I just being a good old nutcase or do my concerns have any real validity?  Half of me says take her back to the doctors, run more tests; find out what is really wrong.  The other half...it tells me do not listen to what the other part of you is saying.  


Whether consciously or subconsciously the words "What does your gut tell you?"  cross through the mind of every mom on a nearly daily basis, yet when these words flash inside my head, I am lacking the confidence to know the answer.


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Monday, October 26, 2015

Does she know?

I will admit that just about every week on either Friday night or Saturday morning I open a tabloid magazine and read it from cover to cover.  Do not judge me; I consider that being a good wife because my husband owns magazine websites.  I consider this my "mindless" time and enjoy living vicariously through the celebrities lives that are mentioned.  The most intriguing page to me is the one that has the little blue birthday box.  There is a list of celebrity names, birthdays, and age they are turning.  I usually have mixed feelings of envy and disbelief.  Envy because of what my life could have looked like, had I modeled, acted, or became famous; utter disbelief that those little kids on the Disney channel are about my age or just a few years younger.  I cannot imagine I am the only person who lets her thoughts drift off to imagine a life of "what ifs".  Oh, to be able to bathe in money, to fly on a personal jet, to have a billion followers of Sonya's Story, my list could go on.  These thoughts lead me to my recent internal dialogue regarding Sonzee.  I wonder as she gets older will she wonder what her life would be like if she did not have a mutation on her CDKL5 gene?

People have told me "she won't know any different", but is that true?  Will she look at her siblings and see all they can do and wish her body could do the same movements?  Will it make her angry because she cannot move her muscles the way she wants, or say the words aloud that she is thinking in her mind?  Will she even be aware of all the battles set before her?  Is it that she will be trapped, locked in her own mind, unable to get her message across because her brain has difficulty communicating with all the parts of her body?  Rather, will she just be content because "she doesn't know any better?"  I wish I knew what really goes on in that pretty little head of hers.  I cannot really figure out which I would prefer for her.  Would it be better for her that she knows she is struggling or not even have a clue about the parts of life she is missing?  I truthfully cannot figure out which would be worse.

I try to put myself in her body.  How frustrating I would find it to have absolutely no control.  To be screaming in my mind all my thoughts, but not being able to let others know what they are.  To want to move my body but unsure how to communicate to my brain which limb I want to move and to where.  Those examples suffocate me to the core.  I can only compare that to being buried alive, screaming for someone to take the dirt off my body, but no one being able to hear me.  On the other hand, if I had limited to no thoughts going through my mind and I just stared out watching "life pass by" I suppose I would be content.  From my point of view as a parent that would make me sad.  If it were Sonzee though, would it make her sad, or would it really be that because she does now know differently, she is just satisfied?    


Am I unbiased when it comes to my feelings either way?  Am I considering her potential struggles frustrating, and her potential indifference to be "sad" only because I know differently?  Is the main reason we "feel badly" for others simply that our personal experiences tell us someone else's situations are less than, worse, or, different from ours?  All of my thoughts lead me full circle back to my original thought, will Sonya know she is any different?  If she does know, will she even care?  I guess the bigger question for me is if she does not care, should I?




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Friday, October 23, 2015

To the doctor portrayed in the "medical school vs mom" meme

I was sitting outside my oldest daughter's dance class on Thursday night scrolling through my FaceBook feed when I came across this:

I read it once, twice, and then three times before I scrolled through the comments of the person who had posted the picture.  The majority, if not all of the replies were "lol".  Prior to Sonzee I would have felt the thunderstorm brewing within, but I would have continued on with my FaceBook trolling, and glanced back occasionally to view the incoming replies.  However, thanks to good old CDKL5 I refuse to let the minority opinion go unheard, whether I am the only person who feels this way or not.
---
To the doctor portrayed in the Meme you see posted,

I decided early on in my life that medical school and I would not be a good match.  With my easily triggered queasiness when ketchup gets on my finger, I decided it would be best for the public to not be subjected to my presence in a bloody emergency.  I simultaneously decided that at the earliest possible moment I would attain my MRS and I guess based on this meme, the more "uneducated/untrustworthy" route of being a plain old MOM.

I come from a family of medical professionals, my father a MD, and my mother a NICU nurse.  My parents felt it best for me to have as many opportunities as possible and so they encouraged me to attend college and then further my education with obtaining a masters degree.  I chose to become just a speech language pathologist, but again, this by no means qualifies me for making those more difficult diagnoses that I would no doubt have learned about had I attended medical school.  I should probably call a MD when I read about them rather than learn more about them when I place them in the google search bar.  

When my husband and I had difficulty starting a family and no doctor would give me the time of day because we had not been married a full year, I am saddened to say I turned to good old google to check out any possible red flags.  Shame on me for not listening to the doctor who didn't bother to run any tests on me because I could still be suffering from an undiagnosed thyroid problem, but hey, at least the offices' nurse practitioner knew what she was doing...I hate to think what google might have shared with me.

It is a great thing that when I finally became pregnant it was 5 different high risk doctors who diagnosed my unborn child with IUGR even though every test confirmed there was nothing going wrong inside the womb (you should probably call your doctor if you don't know what the acronym stands for, because I would hate for you to have to turn to google).  Our oldest is still just a petite little girl, just small for her age, no health problems during or after delivery thankfully.  I am so glad we did not rely on google when it gave us other potential reasons for her being small; it was much easier to be stressed, scared, and upset along my highly anticipated journey to becoming a mother, because hey, all my doctors graduated from a medical school.  

I will admit google has betrayed me once or twice; when I panicked over my first having autism or being developmentally delayed.  When I do turn to google I know to take a lot of what pops up with a grain of salt, however, it's a complete shame I used the search engine to double check car seat installation and proper buckling of my child, because our pediatrician failed to show us how.  It was also on google that I learned more about furniture tip over safety than in any doctor visit during her six years of life.  It is also unfortunate I turned to other mothers without an MD to bounce ideas off, check common symptoms, and to share first hand experiences.  What am I thinking as I still do this?

I will simply assume this doctor is bombarded with patients who enter the office and present a list of potential diagnoses based off their google search that are from out in left field.  I can give  the benefit of the doubt that the doctor did not intentionally mean to come off as disrespectful, arrogant, and a know it all.  Did this doctor know that in the middle of the night google is the quickest method for a scared parent to be reassured or for a nonchalant parent to get the push they need to take their child to the ER?  Did he/she know that it can take an hour or longer for nurses to give a message to the doctor when a mom calls the office concerned about their child?  Google can give us a reply in 2 seconds and calm our fears much quicker.  I actually know of doctors who post helpful information on the internet that shows up through the google search engine?

What I find most disturbing and disappointing is the  choice of words in the final phrase, "so who you gonna trust?" (Side note: Do medical schools accept papers with the word "gonna" written in them?)  This must be a highly intelligent doctor who knows everything about every medical condition, disease, and anomaly there is; so to this doctor I ask.  Do you know the ins and outs of CDKL5, SCN2A, or MECP2?  (After learning our fourth child had CDKL5 her own neurologist admitted she had never heard of it and googled it herself.)  When a child throws up and has a fever do you know without a doubt what their symptoms indicate?  Do you know which test that you run will come back with a POSITIVE test result?  Can you tell from looking at one of your patients that they have a tumor growing on their brain, in their stomach, or on their liver?  Do you tell concerned parents to brush off concerns of childhood cancer when their child's symptoms are textbook for a stomach bug, parasite, or the flu, when indeed it is cancer?  I could continue my questioning, but I am hopeful this doctor can see my intent.  I personally am aware of all those situations listed above where a simple, non-medically educated, untrustworthy mom knew those answers but her child's pediatrician did not

While I am filled with anger that it is insinuated doctors know everything based solely on course work, taking an exam, residency/internship, and a piece of paper; what I feel more strongly towards this doctor, is pity.  If this doctor really think he/she should be trusted over a child's mother, clearly the hundreds of thousands of dollars spent towards obtaining a medical school education were nothing more than a complete waste.

Sincerely, 
A mom who has learned more about her daughter's rare diagnosis from google than any doctor 

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Wednesday, October 21, 2015

Epilepsy Awareness Series

I would like to do a blog series for Epilepsy Awareness during the month of November.  If you or someone you know suffers from Epilepsy and would like us to feature your story, please send your story along with pictures to info@sonyasstory.com.

Please be sure to share this post!



More information can be found at our Epilepsy Awareness Series page

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Tuesday, October 20, 2015

Celebration

I usually find that after a couple of days of being down in the dumps I end up doing a complete 180. It happens randomly, completely on its own.  I cannot quite explain what occurs, but I (drink a little wine) go to sleep and wake up refreshed and giddy with excitement for no specific reason.  It is as if my body and soul have been on a retreat and now everything is back in its place to tackle our everyday.  I think for me, it is best that I let my emotions lead the way.  I have learned nothing is worse than trying to suffocate my feelings as they will do what they want in any case, so might as well just ride it out.

Yesterday was a pretty low key day for us.  In the early early morning Sonzee had one of her little episodes.  While the middle of the night seizures tend to disrupt my sleep, I truthfully prefer those, as she usually sleeps it out of her system in enough time to be "present" during her scheduled activities and our daily routine.  Our first stop was PT with Mr. Mike.  We were finally back in the water after so many missed sessions and non-pool days.  She did so well holding her head up, using her core strength, and she is righting herself in both directions.  It is very exciting to hear that the bear is doing so well, we can spend time now working on her extremities and getting them to participate a bit better.


After PT we went over to Dr. Danielle for our chiropractic adjustment.  Sonzee really enjoys this time.  Dr. Danielle has been so amazing with having me participate, so we work on her myofascial release.  It is working on her soft tissue and her skeletal system (I am not exactly sure what it really does, but it makes the Sonzee Bear smile and that is enough for me).  She loves her time there, as does middle sister; who spends her time either playing a game on my iPhone, rearranging the toys in the office, or coloring.



When we got home Sonzee and her sister went down for a nap and it allowed me some much needed time to make phone calls and organize my life a bit.  It was a definitely a great start to the week.  With all of the positives in Sonzee's development despite her nasty seizure activity this past week, it is definitely cause for a celebration.


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Monday, October 19, 2015

Fault

When Sonya started to have seizures, the first thing our neurologist did was run test after test to "rule out the cause".  We were told the majority of the time the cause of epilepsy is unknown, however a trauma, infection, and genetic mutations would be responsible for the known portion.  

When our neurologist decided to check Sonya's genes against the infantile epilepsy genetic panel, I had no doubt that it too would end up coming back negative.  Neither Sam nor I had any reason to believe the results would be positive; no one in our families had a genetic predisposition for seizures.  

If her testing came back negative, there was no known cause for her seizures and we could anticipate she would "grow out" of the seizures.  We could breathe a sigh of relief that her cognitive development would be unhindered.  We could just assume, she was having seizures and they would be treatable with the typical medications.  Sonya had three Lumbar Punctures in 4 weeks of life, she had multiple blood draws and metabolic testing, all came back negative, and all gave us instant relief.  Then that phone call came, the one that neither of us really understood the implications of until 24 hours later.      

When your child is diagnosed with a genetic mutation as the source of her problems the first thing I think most "typical" parents do, is feel a sense of guilt.  This child was not created by herself, we as parents obviously played an extremely significant role, so it seems only fitting we would take on this feeling.  You submit your genetic samples, and deep down you know the results will state that you are not responsible, that it was just a statistical anomaly, just a random oops in the baby making process.  You meet with a specialist who states that odds are due to the type of mutation your child has, it is most likely random.  However, in even more unlikely cases as the eggs within your uterus were created, a mutation on the CDKL5 gene could have occurred.  This same specialist tells you the odds are so low, you would be published in a book.  At the time it gives you a cushion of comfort.

Then you leave the "safety" of a geneticist and you enter into the real world.  The world where you tell others your child has a genetic mutation and you are quick to follow those words with "it was a random mutation", "neither my husband nor I were responsible", "we had testing done, and no it did not come from either of us".  You say these words because you feel you have to defend yourself, your family, your potential future choice to possibly decide to have another child.  You say these words mainly to protect yourself.

The truth is that day will come when you are in your car and your husband will send you a text saying to open your email.  In the email, you will see the words you have known deep down for months.  The words that read, neither you nor your husband is responsible for your daughter's genetic mutation.  Tears will fill your eyes, and you will begin to cry.  Why you might find yourself wondering would you cry when you just learned this was NOT your fault?  

You will cry because regardless of whether it was your fault or not, there is not a thing you can do about it.  




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Friday, October 16, 2015

"Just a cold"

When your typical child catches a cold they may end up missing school for a day, they may be uncomfortable, they may irritable, and they may cause you to miss work.  I know how much it stinks to have a sick kiddo, I have four children myself. You may think there is nothing worse than your typical child being sick, however, I can assure you there is.

Sonzee is thankfully not all that medically complex, however, when she gets a cold it isn't as simple as my other children.

It has been a rough 18 hours over here for the Sonzee Bear.

She has had 3 seizure episodes since 2:21pm yesterday.  I am usually vague in my description of "episodes"; so let me explain.

Sonya starts out with a tonic seizure for 1.5-2 minutes (this means her body gets stiff)
For the next 2-3 minutes she has spasms (5 second seizures in her case) with a 1-2 second break in between.  Math has never been subject, but that equals approximately 25 seizures

So in the past 18 hours, her little body has endured 78 seizures.

Please consider that the next time your child goes out with "just a cold"



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Thursday, October 15, 2015

Mission

I knew when we began this journey that Sonzee wasn't going to attain developmental milestones in the same amount of time as a typical child.  I have repeated to myself daily she may never achieve some of the milestones at all...as in never.  I have learned it is one thing to say those words, it is another element entirely to live it and witness it first hand.

I have begun to coin Sonya's achievements as "Sonya-stones" and/or "Sonzee-stones".  Some of these include rolling over from front to back as well as back to front, making vocal sounds to indicate pleasure and displeasure, improving her core strength and recently, gaining much better head control.  Some of these "Sonya stones" were mastered around the same time a typical kiddo would; although we did spend countless hours working on them.  Others, such as her head control has been inconsistent and varies day to day.  In the past couple of weeks she has been holding her head up like a champ with more control.  While I am so extremely proud of this accomplishment, I am so utterly saddened that I have to celebrate it at all.  It is these such experiences that make me bitter, make want to have my "it's just not fair tantrum".  (Thank you Mrs. Bailey for teaching me in 5th grade that life is not impartial).  

Really?! I am supposed to just celebrate and accept the fact that my eight month old is holding her head up well?! You mean the same skill my other kiddos mastered without even trying by the time they were 3-4 months?!  I am supposed to look at this positively and say some cliched statement such as "it is times like this that I appreciate the smaller things that I took for granted with my other kiddos...and BLAH BLAH BLAH..."

I will preface my next paragraph with I am only human and definitely no mother Teresa...

 Right now I do not want to have to be celebrating this "Sonya stone".  She should be crawling and sitting and reacting to her siblings.  She should reach out to me and smile and giggle and be getting into mischief.  She should be like the majority of every other baby around her age I see popping up on my newsfeed!!!  She should be typical.   

After months of waiting, (apparently they sent the results to the ordering physician and not to anyone we have appointments with) Sam and I received official word yesterday that Sonya's mutation was not inherited from either of us.  We pretty much assumed this was the case due to her specific mutation and the fact that the majority of CDKL5 mutations are de novo.  However, my first area of directed anger is towards conception and cells.  After all, the process has ONE job...make a baby...cells split and regenerate and they should do that...without mistakes.  People make mistakes, cells shouldn't.  Yes, I am aware the process is nothing less than a miracle and amazing and G-d is involved and BLAH BLAH BLAH....but "you get it right the first time"!!!!

I have trolled our CDKL5 support group and have become friends with many of the members on FaceBook.  I follow daily posts of other mothers and fathers, and I will occasionally read "I hate CDKL5", "CDKL5 has stolen my child", "**** CDKL5".  I have never wanted to let myself feel that way.  I wanted to always be indifferent, to not take anything CDKL5 has to offer as a personal punishment, to always try and see the good it brings.  I prefer to be as positive and optimistic as possible, but it's tough, and it sucks to have to be Mary Sunshine 24/7.  You know what?!  I HATE that Sonya has CDKL5.  I HATE that I have to appreciate the small stuff.  And I HATE that our support group is growing and there is NO CURE!!!

So after a  much needed day of "me time" yesterday; I wallowed briefly in self pity, went to sleep, got up, and will continue spreading awareness of CDKL5 until some billionaire/entertainer/politician adopts this cause and helps ensure WE FIND A CURE!!    





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Wednesday, October 14, 2015

Content

We all have challenges present in our lives that we struggle with daily; whether it be infertility, a special needs child, financial stress, an impending divorce, or any of the other various difficulties that can be front and center.  While we receive our individual life assignments for whatever reason, they say that G-d never gives us more than we can handle.  However, I am nearly 100% certain I am not alone when I find myself saying, "I wish he didn't have so much faith in me."

Sometimes I look at other families with four or more healthy children and for a split second, I imagine what that life would be like.  I look on with envy when I see other babies participating in age appropriate behaviors and activities.  While it always elicits a huge smile, it makes me a bit sad deep in the pit of my stomach.  I think about how much easier my daily routine would be without so many doctors’ appointments, therapies, and medication reminders.  Then the thought presents itself as an “aha moment”, everyone is faced with his/her own struggles.  It is true that the grass always appears greener on the other side.

In my moment of superficial judgement, I am missing the entire story.  The parents with the four healthy children might have lost others in their journey to conceive.  Maybe the same couple spent an insane amount of time, money, and energy in efforts to have them all in the first place, Maybe those children had a sibling who is no longer present to play with them.  That healthy child playing age appropriately who makes me smile might have an "invisible illness".  My day whilst not spent inundated in the special needs world, would surely be filled with other responsibilities that I am sure I would find just as challenging to balance if not more.

We tell ourselves if we did not have to face our personal challenges, our life would be infinitely easier.  We tell ourselves this because the alternative is unknown and we can create a fantasy in our minds of how our life might look, how we think we want it to look.  We assume our life would be simpler, happier, greater, maybe even better as a whole if we "could just be like ____ ".  We can imagine that the other person has it better.  What I think would happen if any of us traded spaces with one another?  We would find we are content with what we were given. 


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Tuesday, October 13, 2015

Panic

I have joked that the reason Sonya has a mutation on her CDKL5 gene is it is G-d's way of saying "Ha try and control this".  While I do not really believe G-d sits around and doles out disorders, disabilities, and terminal illnesses (etc.,) for fun, I do believe these challenges are given to families so each member can learn more about who they are "supposed to be".  

For as long as I can remember, I have always thrived on being organized, a planner, a Type A personality if you will.  I like to have structure and order; it is what keeps me grounded, what keeps me sane.  Being the planning type, I tend to focus on the future.  I have always looked weeks, months, and years in advance with clear vision.  I have always been excited to see what "the future would hold" having very few big doubts that something negative would come in the way.  Sure, with my neurotic personality, there were always those distant flecks of unknown shadows, but truthfully, I was part of the "it won't happen to me (us)" bubble.  I guess when you live in a fantasy bubble you cannot be all too surprised if it goes "pop".  The interesting thing about what happens to you when your bubble bursts; it happens exactly the way your worst nightmares would have imagined.

In a split second, you see flashes of a life you once lived replaced with blurred visions of uncertainty.  You cannot see past a few hours, much less a day, and forget a week.  You experience unknown symptoms of nausea, fear, and emptiness within the pit of your stomach.  You learn all too quickly these symptoms define the term "panic attack".  You end up like a ballerina doing pirouettes making sure to stay focused on that one stationary permanent fixture.  You do this so you can breathe, so you can survive.  

To be honest in all my coping and "acceptance" of all CDKL5 has to offer, I realize I have been focusing my energy on the "superficial" so to speak.  Some of my concerns?  Will Sonya be mobile?  Will Sonya be able to communicate?  Will Sonya be a functioning member of society?  When I say those thoughts aloud, they sound so frivolous compared to the "bigger picture" of what CDKL5 could have in store.  My short and long-term focus has been on her quality of life, which is extremely important, but at times not always a necessary focus.  

This past week a fellow CDKL5 family put together "faces of CDKL5" for a fundraiser, I Golf FORE Aniyah.  I read every story that he posted to the page, each written by other CDKL5 families.  (I sent one in of Sonzee about 4 months ago.)  A picture of a child was sent in along with a snapshot of his/her life with CDKL5.  After reading a few of them, I felt like I had been hit in the chest with a fast flying baseball and the wind was knocked out of me.  The panic set in, the tears filled my eyes, and I was transported back in time to the first night Sonya was in the epilepsy-monitoring unit.  She had at least five seizures that first day from 10:26am until they administered her first dose of medication around 2pm.  I was in the hospital alone and scared to death.  When the medication was finally administered the doctors neglected to (or I did hear them) share with me that along with the potential side effect of irritability, she could sleep and not eat for 12+ hours with the dosage they were giving her.  I spent the entire evening and night crying hysterically to her amazing nurse thinking she was brain-dead and never going to wake up again.  When she first cried at 5am, it was the most beautiful sound I had heard I was not sure I wanted her to stop. 

The reality of the situation is, besides the possibility Sonya could lose her skills following each seizure, realistically, she will always be a seizure away from losing her life.  Incite panic attack.  The reality sends my brain into a tailspin because it is too much for me to acknowledge, too much to handle.  Therefore, I turn to what I can fathom, a crutch.  I turn to FAITH.  While I have no doubt there is more to myself than I am aware of.  I have learned through this journey so far that I have more faith in G-d than I initially thought.  

Faith.  It does not make things easy, it makes them possible.  -Author Unknown 


My faith has led me to believe that Sonya will achieve her milestones at some point in her life.  I also have faith that even if they are temporarily suspended due to increased seizure activity, those "Sonya-stones" will be mastered again.  My faith makes this experience bearable.  It makes the fear less overwhelming.  It makes the "frivolous" turn into substance, into a much-needed focus.  It gives me a sense of structure and control over the panic and has my Type A personality do a little happy dance.  Most importantly, it makes me smile and appreciate all the seconds in each minute, every minute in each hour, and every hour in each day with Sonya and her siblings.  All of which I might never have focused on before the bubble burst.





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Monday, October 12, 2015

Team Sonya Shirts

We have received some requests for shirts and have set up a booster!

Please visit: https://www.booster.com/team-sonya to be sure to reserve your Team Sonya shirts! (Booster ends in just 9 days)

These shirts are a great way to spread awareness of CDKL5 and show your support for Team Sonya!  All proceeds will go directly to the International Foundation for CDKL5 Research!

Green with purple shirt option

(There are youth and higher sizing options, if you wish to place an order for an infant, please send me an email and I can make that happen)

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Saturday, October 10, 2015

Top Mommy Blogger Rank Update

Someone is super excited that we are ranked #11 in the "special needs" category and #260 overall!!!


Thank YOU for your continued support and motivation!!!!
(Please continue to click the link to keep us ranked :-)) 


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Friday, October 9, 2015

Good Intentions

There will always be a person who you know means well but when he/she opens his/her mouth it would have just been better for it to have stayed closed.  The person who always has a story to compare and "one up" whatever struggle, difficulty, experience, and/or event you are sharing.  This same person will no doubtedly give you advice on how you can improve your current situation, because of course the fix is so simple you wonder to yourself "why didn't I think of that?"  We have all encountered this person, and we always hope we aren't him/her, because even though we tell ourselves they mean well, it doesn't change the hurt that their words bring.

The thing about "good intention" encounters is that they seem benign at first, but then time passes and they remain on your conscience like Jiminy Cricket.  The words are at the fore front of your mind, front and center.  Initially you replay the conversation as it occured.  Then somewhere after the fourth or fifth rewind, you start to make changes to your initial response.  After twenty mental exchanges you are more upset then when the initial dialogue occured.  There is nothing you can do about it because the thoughts have already rooted themselves deep within your brain.

You have probably now shared this encounter with up to five or so close members of your inner circle.  The majority of them gasp in disbelief that such an encounter occured.  Some of them will tell you "well you know he/she meant well".  Some of them will tell you it should be expected from "so and so".  No matter that the majority (if not all) of your pose agree, you still have a sense of despondence.  You may now find yourself doubting youring previous action(s).  You may wonder if you aren't doing all you can do.  You may simply just feel like crap.

This makes me think back to the popular grade school mantra that I am sure we all chanted at some point in our childhood; "Sticks and stones may break my bones, but words will never hurt me".  I feel whomever came up with this was either too proud to admit they were hurt, or in some way, words spoken to them made no negative impact (<-good for them in that case).  I personally do not feel I fall into either  category because I can admit that words hurt me, and to me words can leave negative marks.  We can tell ourselves that the words came out wrong, or that the person meant well, but if we are truly honest, we can all agree that sometimes there needs to me more than just a "good intention".



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Thursday, October 8, 2015

Vent

"I like the pictures with her smile. Don't put the other stuff.  And I can't read what you write, it's too much."
Someone I know on an acquaintance level said these words to me recently.  At the time all I could muster along with a smirk was, "It's not so common that she smiles".  As usual I have replayed this conversation on repeat in my mind multiple times and of course I have now changed my reply 100 times.  I wouldn't say I am offended, but this paired with another recent conversation with someone else has made me want to grab people by the shoulders and say "SERIOUSLY?!?!” 

Let me go ahead and state the obvious here.  I LOVE the pictures of Sonya's smiles.  Even though she is 7.5 months old, she is still at the point developmentally where is figuring out her smile.  That point where the smile comes out wide mouthed, awkward, and a bit scary.  She turns her head to the side in such an excited manner because of her vision that I have difficulty capturing the true cuteness of the smile.  If her head stays still she has the cutest closed mouth grin.  They all take an act of congress to achieve, with a cheerleader or two on the sidelines (myself, Sam, and/or a sibling), and her determination/strength to make the smile happen.  Oh, how I WISH they happened more often so I could post more of them.  To be honest the smiles that get posted are usually "staged" in the sense that I want so badly to see one; I spent 5-10 minutes working for it.

I am sorry but not sorry about "other stuff".  I do understand how depressing and sad it can be to solely see pictures of Sonya sleeping or not "being present".  Trust me; I know it isn't uplifting or happy.  I know this because I live it.  Every minute of every hour of every day.  Believe me I do my best to spare you the video footage of seizure activity we take to send to her neurologist.  If only I didn't have to watch or be present for those 5 or so minutes either.  If you feel that my blog posts are too melancholy and dreary to read, it is unfortunate because it is the sad reality CDKL5 presents with.  It is also a shame because if you read them, you would know they aren't all somber and I try to give a little peak of hope in each one.

I am trying to just deal and make the best out the hand of cards I was dealt.  This is obviously not the deck I would have asked for.  I wish I could just write about 24/7 happiness and joy and all things grand, but I can't.  That isn't life in general, and it is definitely not Sonya's Story. 


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Wednesday, October 7, 2015

Opthamology Update

Sonzee went to the amazing Dr. Cassidy last on Thursday.  He is a local CVI guru here in Phoenix (so we are told).  This was just a follow up to our summer appointment, so she did not have her eyes dilated.  Here are some quick facts regarding vision and update on the Sonzee Bear.

  • ·     Cortical visual impairment (CVI) is a decreased visual response due to a neurological problem affecting the visual part of the brain. 

CVI Resolution Chart by Christine Roman-Lantzy, Ph.D.

·         Phase I
Building Visual Behavior
Level I Enironmental
Considerations
·         Phase II
Integrating Vision with Function.
Level II Environmental
Considerations
·         Phase III
Resolution of CVI
Characteristics
Level III Environmental
Considerations

·         CVI Characteristics
·         Range 1-2 (0)
·         Range 3-4 (.25)
·         Range 5-6 (.50)
·         Range 7-8(.75)
·         Range 9-10 (1)
·         COLOR
·         Objects viewed are generally single color
·         Has "favorite" color
·         Objects may have 2-3 colors
·         More colors, familiar patterns regarded
·         No color or pattern preferences
·         MOVEMENT
·         Objects viewed generally have movement/reflective properties
·         More consistent localization, brief fixations on movement & reflective materials
·         Movement continues to be an important factor to initiate visual attention
·         Movement not required for attention at near
·         Typical responses to moving targets
·         LATENCY
·         Prolonged periods of visual latency
·         Latency slightly decreases after periods of consistent viewing
·         Latency present only when student is tired, stressed or over-stimulated
·         Latency rarely present
·         Latency resolved
·         VISUAL VIELDS
·         Distinct field dependency
·         Shows visual field preferences
·         Field preferences decreasing with familiar inputs
·         May alternate use of right and left fields
·         Visual fields unrestricted 
  • ·     Ambliopyia is commonly known as lazy eye, is the eye condition noted by reduced vision not correctable by glasses or contact lenses and is not due to any eye disease. The brain does not fully acknowledge the images seen by the amblyopic eye.

Sonzee was given a score of 2-3 on the CVI scale.  This scale ranges from 1-10, with 10 being basically normal vision.  During our last appointment Sonya was given a 3-4.  It is normal for her vision to fluctuate on a day to day basis depending on her level of tiredness as well as seizure activity.  She had had a seizure about 6 hours prior to her appointment, so that can play a role in her range.  

She is able to focus on an object after it is presented in about 5 seconds.  She holds her attention on the object for just 2-3 seconds, and then she is "bored".  Our goal will be to increase her ability to maintain attention for longer periods of time.  We are to use any method to get her to focus; light up toys, animated voices, really you name it, we will try it.

We are also going to begin patching to help her amblyopia.  This will hopefully help her maintain focus easier without having "ADD of the eyes" (ps that is my description not a medical professional comparison).  

Sonya is not receiving glasses at this time, but we will be following her vision closely and have our next appointment scheduled for December.

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Sunday, October 4, 2015

Charlotte's Web Update #1


The above words I would consider my personal motto since I was a teenager (Thank you Jonathan Larson).  I do my best to make decisions after thorough consideration of all the pros and cons I can think of.  While I have been known to make decisions in haste, you can be sure I have calculated all the risks and benefits to ensure I do not have any doubts or regrets.  

I was hesitant when it came time to "pull the trigger" on the much talked about and debated topic of medical cannabinoid oil.  This probably makes my opinion a bit more unbiased than someone who is singing the oils praises since I would place myself in the cautiously optimistic category.  To be honest, I still am a skeptic.  

Three weeks ago today we began on our journey of adding in Charlotte's Web Hemp Oil.  We did not necessarily do the most exhaustive research regarding the brand; however, we went with one of the more popular ones who have proven to be more reliable in recent audits and more readily available in Arizona. We know there are other options out there, and in the future we may give those a try, but for now, we will stick with this decision.

We started with a low dose of .25mg/lb since Sonzee is only 14.9lbs.  She has been getting about 3.43mg of cbd daily.  We initially started with 3 doses throughout the day, but that was honestly not working out the best for her or me.  Too many naps disrupted, too little sleep and alarms for me, and so we decided to change to 2 doses.  

I have to admit that over the past couple of weeks I have had my doubts on whether the oil has been worth all of the added "annoyances" it has been bringing.  Feeling defeated because this was our hail mary and "last resort" option from pharmaceuticals has had me on edge.  I doubted whether we were using the correct brand.  Did we make the right call for the Sonzee bear?  Part of my initial hesitation with starting the oil was because I WAS expecting a type of miracle to occur.  There are so many of her CDKL5 sisters who have experienced dramatic results, going from 9 daily seizures to 0.  I would not be truthful if I didn't admit I have been a bit bummed that Sonya who has an average of one seizure every 24-36 hours did not stop having them all together.  However, in reply to those of you who have inquired recently about the results here is the information for you to make your own judgements.

Seizure Activity:
September 13:  Sonya began .2ml three times a day of CWHO
At the end of the week (Sunday-Saturday) September 19: Sonya had 7 seizures
At the end of the week (Sunday-Saturday) September 26: Sonya had 7 seizures
At the end of the week (Sunday-Saturday) October 3: Sonya had 5 seizures


What we have noticed behaviorally:
Sonya giggles for the first time; Sonya also begins to sleep from 9-4am
Sonya has been more alert. 
Sonya has been more socially interactive.
Sonya has been more smiley.

So is it working?  For me, the jury is still out...but I am definitely encouraged!

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Sonzee's Slideshow