Monday, October 31, 2016

Complicated expectations

Often times my posts are written in my head while I am out and about as the random thoughts filter through my mind.  Some of the time I actually find myself smirking realizing all of the craziness that is occurring in my head during that time.  It is completely baffling to me how one minute I am "worried" about Sonzee's developmental milestone achievement and then a moment later her milestones are the most distant thoughts as I am overwhelmed with happiness that she is just breathing and we aren't at the top of the coaster looking at the end of the track.

This honestly happens multiple times throughout my day.  Thoughts that contradict themselves bombard my brain and confuse me to the nth degree.  To give it a visual representation, imagine that you are standing in a dark room and there are thousands of words flying at you from all angles.  Some of the words are huge, others are tiny, but all of them are white and bright.  They go by so quickly it can be hard to make out what they say.  It makes processing what I really feel an extremely daunting task.  I have to yell at myself to focus if I want to make any sense out of the situation.  Then I start to dissect my thoughts.  "Should I think this?"  "Shouldn't I just be happy with where things are?"  "There are other children worse off.  She has been worse off."  Etc. Etc. Etc.

It is when things are seemingly stable that I am less afraid to admit to myself that I wish my 20 month old would be able to sit on her own.  I know I am allowed to acknowledge this feeling, and I know it is acceptable, but I feel petty a lot of the time for caring about her accomplishing milestones.  For each thought that pops into my mind, its counterpart is right there by its side.  "I wish she would not succumb to the typical stereotypies and sensory issues of having a CDKL5 disorder, such as hand chewing."  (That really is so benign, why does it bother me?)  "I wish she would bear weight on her legs", (they are getting stronger).  "I wish she would notice me when I look at her face", (but if I make noise she does).  "I wish she would show her siblings that she loves them", (On occasions when our oldest plays with her arms and talks to her excitedly, Sonzee gives her the biggest grin).  My mind is constantly playing devil’s advocate with itself.  The reality of this life and the guilt for feeling unsatisfied at times are so intertwined with one another.

I want her to just be normal, but I want her to be who she is meant to be.  I really do not have any specific expectations when it comes to what Sonzee will achieve in her lifetime.  We meet every 6 months to create goals for her and most of the time we just keep them the same because they have not been met.  I have hopes and dreams galore, but who knows when or if they will be accomplished.  I do not want her to ever feel like she has let me down nor do I want to place unnecessary pressure on her, and I want what any parent wants from their child...for her to grow up and be happy.  It is annoying to me that every single aspect of her life has to be so complicated.  

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Friday, October 28, 2016


We are officially a little over a month into the fall season.  Earlier sunsets, leaves changing color and air temperatures are becoming cooler.  Pumpkin spiced lattes and various apple-flavored items have taken over every menu.  October has almost concluded, Halloween is around the corner, then Thanksgiving, and in a blink of an eye the holiday season will upon us.  You can feel the joy in the air, the eagerness, and anticipation of holiday shopping, but scrolling through our CDKL5 parent support page things are not the same.  Fall to me is the season where the fear of the unpredictable course of CDKL5 starts to say, "beware".

Last fall and winter were by far the worst seasons for many families in our CDKL5 community.  Fall is when the health of many of our children starts to change.  It is when illnesses run rampant and that "simple sniffle" and "common cold" become deadly for many of our children.  As the days pass, more parents of the children in our CDKL5 family are asking for prayers as their child is being transported to the hospital for increased seizure activity, lethargy, and health issues in general.  It is the season (for me) that I wait with baited breath to see which family will become part of the elite group that no one wants to join.  I am not naive to think it will not be us, but like the rest of our extended CDKL5 family, we pray this year we will be spared.

It is morbid, yes, but for families with medically complex and fragile children it is our reality.  I am not by any means consumed with these thoughts 24/7, but I cannot lie and pretend that I am not slightly panicking on the inside.  I cannot say that with Sonzee's complete 180 degree turn in the past week that I am not haunted with the thoughts that I am missing something.  A curse of CDKL5 is how our warrior children can present so well but be so broken on the inside.  I fear what I could be missing.  In 95% of life staying simple is a pathway to success, but when dealing with CDKL5 nothing is ever simple.

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Wednesday, October 26, 2016

Not Today.

Sometimes life just sucks.  There are times when it's not humanly possible to actually be fine with how things are going.  So many times I say, "things happen for a reason", "G-d only gives you what you can handle", and other motivational phrases that I don't always believe in or agree with.  Maybe if I say them enough when things are status quo, I might do better when things really suck?!  I'm guessing I didn't rehearse them very well because today, there is no reason I find justifiable for everything going on in my life and I really find G-d testing my abilities in my trusting of his faith in me. It's all a load of BS.

This week sucks.

If I have a good honest pity party right now I can look back on the past year and a half and also say confidently...things have sucked.  I really do try to find the good in all of this tangled up mess I have found myself in, but I don't want to today.  I want to just scream, shout, and cry.  I don't want wine, I don't want food, I just want to walk around with tears streaming down my face and no makeup on. I want to just be angry.  Maybe then I can sort out my feelings?!?

I don't want to look at any bright sides or be told things will work themselves daughter has a rare genetic mutation with a cure no where in sight...NO IT WONT EVER BE ALL RIGHT!!!  I will get over my funk, once I am no longer seething over the fact that we have been home from the hospital for less than 10 hours and her tube is out of her nose...AGAIN.  Maybe I will do better when she no longer has to rely on her intestines to process food because her stomach is incapable of doing the job it was designed to do.  Maybe things will settle down when my 20 month old is capable of sitting, something a 6 month old does without much effort.  Maybe if I ever heard what her voice sounded like saying "Ema", "Aba", or one of her siblings names, then maybe I would have some faith that things might be ok.

I get it, this is what is in the cards for our family.  I know, I know, "I am strong and capable of dealing with it".  I get it, "I am so inspiring", and "if any family could handle it, it would be us"...yes, I hear all the motivational speeches and sometimes I even believe it, but you know is NOT The day.

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Thursday, October 20, 2016


I have to remind myself to keep my feet on the ground, to only have tunnel vision.  19 months in and I know these feelings all too well.  It starts subtly and with some doubt, then the casual question between Sam and myself of "did you see that?", " what do you think?", "did you get it on video?".  We ignored the first questionable movements, but slowly the doubt becomes less and the panic starts to over take my mind.  What do we do? What's our next line of defense?  Do I email her epileptologist?

Ever since the varicella (chicken pox) vaccine her 39 day streak of seizure freedom was derailed.  I anticipated this would be the case, but as usual, I had some hope.  (I find the fact that I continue to use that word almost comical).  It started with some quick shakes (myoclonic seizures?) we originally wrote them off, and then a flashback of her first PEMU stay haunted my mind.  We have been doing the most slow wean of Keppra known to man kind (8 weeks), so after multiple shakes, I convinced Sam to go back to her previously weaned dose.  It worked, the shakes stopped.  I guess that solved that mystery.

But having CDKL5 isn't that easy.  Things can't be fixed so least not in our experience and certainly not for the bear.  So we plugged up one hole in the hose and then another leak sprung.   Now we are seeing the quick eye roll, the questionable head drop...the panic sets in, it's honestly suffocating.  It makes me want to get any drug to make them go away.  Then I take a step back, I go back into the tunnel...I remind myself she has a neurological disorder and she will always have odd movements, and her seizures are "refractory", after awhile they don't respond to medications...there really is nothing we can do.  Why am I panicking? The panic does nothing and there isn't any miracle at this moment either. 

So I need to find the floor and ground myself. I need to take a deep breath and let this unfold the way it's meant to.  I have to remind myself that there is no quick fix (or fix in general for that matter) and there (may) never will be.  It will always be trial and error and the sand will always fill the other side of the hour glass, but after it gets turned back over, we never know how long it will take for it to run out again and who knows, maybe one day a grain of rice will clog the path.

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Wednesday, October 19, 2016


We are all guilty of thinking it.  We are all guilty of feeling it.  When we find out someone's child was diagnosed with cancer, or when someone has a family member who has died, its essence surrounds us.  When we learn a child is diagnosed with an incurable disease, we all immediately think "How horrible", "I can't even imagine", "So awful", the list goes on and on, and so does the overwhelming sense of pity.

Pity: "the feeling of sorrow and compassion caused by the suffering and misfortunes of others"
I have a whole new relationship with these words.  It frustrates me in a way that I have never felt, but I am sure I am not alone.  I feel upset with myself for letting such a small word take me over and make a huge impact.  A negative impact at that. I feel so badly for all of those times I myself gave way to that feeling when I met someone who had a child or family member who was experiencing a less than perfect situation.  Now I am the person and family member on the receiving end.  I hate to impose my emotions on others, but many of us (if not all?) who find ourselves in a position listed above, or any other position that others might feel warrants this not want or need your pity.

I can spot the look from across the room when a persons glance lingers a second longer.  I can feel it in the air when someone walks over to the stroller and attempts to interact with my daughter who does not even acknowledge this persons presence.  I can read it on the faces of the stranger who overhears my conversations with others as the conversation shifts to talks of seizures and development.  It is all around me and it is impossible to escape.

I understand the situation can become uncomfortable fairly quickly when someone realizes that Sonzee has epilepsy, a developmental delay, and is unable to eat by mouth.  Yes, it absolutely sucks that this was all caused by a random de novo, no one person is responsible type of genetic mutation.  I know the typical response is the stoned face expression followed by various questions about whether the seizures can be cured or if she will grow up to have the same cognitive abilities as typical children.  I can handle the conversational dialogue and in fact I encourage questions and love to talk about everything CDKL5.  But please hold the pity.

Awareness.  That is what I hope to impart on others.  I want others to learn that people are different for various reasons, and a good majority of the time it occurs due to random circumstances.  I want others to not feel embarrassed to ask why Sonzee has a sticker holding a tube on her face.  I want someone to question why I am unfolding a stroller from the trunk of my car that is parked in a handicapped parking space.  I want people to ask why I have a light up blinking toy in the water at her swim class.  I want to provide education.  I do not want people to assume anything.

What I really do not ever want is for others to feel sorry for me, for Sonzee, or for our family.  There is no reason to feel this way.  Everyone has challenges and misfortunes in their lives.  No one is exempt from tragedy.  Yes, the circumstances are unfortunate, and I wish my daughter was a typical almost 20 month old toddler capable of doing typical 20 month old toddler activities, but that is not the case.  Please do not ever feel sorry for us.  Please continue to ask questions, tell Sonzee's story, offer support and a shoulder to cry on when the days get overbearing, and do your best to be there to celebrate with us when the days are amazing.

Thursday, October 13, 2016


I watched another great episode of the new show "Speechless" on ABC last night.  Regardless if your child has special needs, I highly recommend the show because it is really funny.  Last nights episode really resonated with me because it was about the guilt a family might feel while participating in an event when their special needs child is not there or unable to do so.  (Even if your child does not have special needs I think feeling guilt as a parent is quite common).

I remember during one of Sonzee's hospitalizations last spring that it was during the Jewish holiday of Purim.  For those of you who have never heard of this holiday, I will quickly define it as a Jewish Hallowen.  Children dress up in costumes, there is a party, a carnival, face painting, etc.  I debated not going to our synagogues party because I would have to leave Sonzee (guilt), but then I was faced with the reality that as usual, Sonzee's unplanned hospital stay was taking away from the other kids having me (guilt).  The kids wanted me to be there and I wanted to see both of the girls dressed as rainbow dash and our son as spiderman.  So I went.

As I sat in the parking lot of the synagogue I started to cry.  Sonzee wasn't there, we were a broken family as my heart was in 2 different places and it sucked.  This was not the first holiday that our family unit was separated, and I doubt it will be the last, but not matter how many times it will happen, the pain will still be the same.  In the end, we all had a great time (guilt) and I am so glad I was there for the kids, for Sam, for myself.  When I got back to the hospital Sonzee was enjoying her time sleeping away and didn't even notice my absence (a smidgen of guilt faded away).  That did make me feel better, however as a special needs parent there will always be a constant battle between the forces of guilt.

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Monday, October 10, 2016

When panic sets in

I was sitting at home this morning when the text message alert came through my phone.  It was from a close friend of mine.  Someone who I have gotten increasingly close with over the past 9 months, as our daughter's both have a CDKL5 mutation.  Our daughters' like all of the children affected by this merciless string of characters, vary greatly in skills and overall path they follow, yet as parents it always boils down to us having the same emotions and a level of understanding that only other mom's and dad's on this journey can relate to.   There was an urgency and panic in her text that was palpable even though texts can sometimes leave the reader uncertain, there was no uncertainty.   CDKL5 has a way about itself, it can take a child who is doing absolutely amazing (in the world of CDKL5) to death or close to it in a matter of moments, imminently without a warning.  How are we as parents supposed to cope?

It has become crystal clear in my 18 months as a member of the parent support group that it only takes a second for our world to be turned upside down.  For us specifically, I don't even need the parent reports of fellow CDKL5 siblings to know this, we HAVE lived this ourselves.  There is always a balance of celebration at the attainment of a "Sonzee-stone" along with potential fear of the skills loss.  The knowledge that the skills our children with a CDKL5 mutation achieve are not theirs to keep forever is sadly our reality, but yet there is always hope.  The hope of maintaining seizure control for as long as possible mixed with the reality of "refractory epilepsy" as a symptom of CDKL5 mutations.  The fear that even though our children might have a brief stint at seizure freedom, it only requires one to take their life.  It's suffocating.  It's heartbreaking.  It's impossible to live with, yet we have no choice.

My advice to my friend is obvious, "Don't focus on what might happen, just enjoy everything she is doing now".  I should really smack myself for even writing those words, I would internally roll my eyes at someone who would suggest that to me, and truthfully, I don't believe in these words myself.  There is no way to live this life without fear, yet there is no way to live with it.  Either way there is no winning.  Living in the moment, that is what all of us affected by CDKL5 or a similar type of genetic mutation or terminal illness must do; and we do just that each and every day.  Some days are easier than others.  There are days where the thoughts of the future leave us scared, numb, and paralyzed.  Then there are days where we just focus on the here and now because that is the only way to breathe.

There is no preparation to do once your child receives a diagnosis such as CDKL5.  There is no way to every fully accept everything that will be thrown our way.  I used to wonder if I would rather Sonzee never have seizure control and never gain skills because then I wouldn't have to worry about the day the seizures return or the day the skills disappear.  Our days of seizure freedom might not be as long as other children, and the goals Sonzee attains might not be as advanced or last as long, but I wouldn't give up the 52 days (non-consecutively) of her life she hasn't had to suffer at the hands of a seizure.  No matter what the future holds I have documented a ridiculous supply of pictures and videos to help me through whatever dark days might be ahead, and I will look at them with a huge smile on my face remembering just how happy she was during those moments.

And that is what gets me through the days when panic sets in.

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Friday, October 7, 2016


"All this stuff...other people's opinions.  It's nothing, you know what's not nothing?  When a Dr tells you there is something wrong with your kid.  All the things he is never gonna do, and it's a nice long now when something happens, it's like "what else you got?  Bring it on.  I get it.  Normal seems good, but guess what?  We're not normal.  We're better, we're...bulletproof."  -Jimmy DiMeo (Speechless TV Show)

I feel like once you enter into the unknown and you begin your special needs journey it feels like one constant uphill battle.  There might be small spots to sit and catch your breath, but as a special needs parent there really is nothing that comes easy.  It wasn't until last week at the weekly parent support group I attend that it became clear that if you asked me one word to describe a special needs family it would be "resilient".

The new television show "speechless" to me is a blend of Parenthood meeting Modern Family with a special needs child component.  The writers are witty,  full of heart and from what I have read, one of them is a father who has a child with "Pitt-Hopkins".  Another rare disease that has no known cure, with similar symptoms of CDKL5, and one I was just introduced to a couple of weeks ago when Sonzee made a new friend.  

I have watched the clip including the quote on the top of this post 30 times at a minimum.  My eyes filled with tears and yet my heart full of happiness simultaneously.  I guess a summary of my experience this far.  I think the notion that special needs families are bulletproof holds some truth, but at the same time I am torn because I think there are times that the bullets penetrate and even after recovery things will never be the same.  The fact is, the bullets just keep flying. 

There is something to be said about the resilience of special needs families.  That's not to say that if your family isn't in this world that you are exempt from struggles or trials.  It is just a special needs parent develops a hard shell like a turtle yet with the elasticity of a rubber band.  Many things are thrown at us, some make a dent, but a lot of it we just send flying right back.  We are a special blend of warrior and human combined...and our lives are far from normal.  Sometimes it would be easier to go back to the way things were prior to having a special child, but then I wouldn't  have the understanding of resilience that I do now. 

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Wednesday, October 5, 2016


Almost 18 months ago, our little Sonzee bear opened our world to all things CDKL5.  While approximately 90% of our exposure has been dreary, depressing, heart and gut wrenching, stressful, scary, and undesirable, there have been times along the way (10%ish) that have brought such extreme positive emotions that they are difficult to express.  Others who are on a parallel journey to ours with CDKL5 or another medical challenge might agree with me.

As you embark on this new life in a direction that was completely unexpected from anything you could have ever fathomed, the outside world starts to close in around you.  I hope that you have fantastic support from friends and family, but to be honest, there is no way they can truly understand your position.  They can offer you an ear to listen, a hug when you need it, and words of encouragement, but nothing replaces the support and camaraderie you find in the parents that are journeying right along with you.

Sam and I have both formed many online relationships with the parents we have "met" in our online CDKL5 support group.  We have both been lucky enough to meet different moms and dads over the past year and a half.  Similar to being a mom in general and having friends who are mom's "who get it", I cannot imagine being on this journey without having at least one other parent who truly understands what it is like to be in our situation.  Of course just like parenting in general, there are variations to each child's story, but to have others who have been faced with having to make similar decisions, makes the impossible bearable.  

I am so fortunate to each and every person who is on this journey with us, whether you are friend, or family, whether you live near or far, regardless if we have ever met in person or I see you often.  However, there will always be a special unbreakable bond with all of you who are in this journey because your child has a CDKL5 mutation and to all of you, thank you for making 10% of this journey absolutely incredible.
Image result for quote friendship is born that moment

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