Searching

After April 16, 2015, I never anticipated that we would ever have a question again as to the "cause" of Sonzee's symptoms.  That was the day we were given a summary for her life.  It was the reason for her uncontrollable seizures, her "eyes doing weird things", her cortical vision impairment, and all of her developmental delays.  8 months later it was the reason for her failure to thrive, for the need to get a g-tube, for her to start the ketogenic diet, and for the hypsarrhythmia found in her EEG background. 13 months from that original April date it was the reason for why her stomach just stopped working and why she needed TPN for the first time.  Despite always searching for various answers for her different presentations of GI issues and never needing to search further for the reasons behind her atrocious seizures, CDKL5 has always been our answer...

Until it wasn't.

In September after Sonzee received her personal gait trainer and began to practice more weight bearing we learned she had 5 fractures all in various stages of healing.  I considered every possible cause, but ultimately CDKL5 received the blame.  There are a handful of kiddos who have a CDKL5 diagnosis who also require extensive bone monitoring and supplements, so like her severe presentation of GI issues, I just considered her to have been impacted more in the area of her bone health.  Honestly, besides blaming the formula she is on, it makes perfect sense to place the burden of this on CDKL5.  She is non-ambulatory, she has severe seizures, and she has osteopenia, of course, it could be CDKL5.  Not one of her doctors felt there was any other explanation, so I let it go.

It wasn't until her most recent fracture within the last two weeks and multiple private messages from followers that a voice of doubt began to get louder in my mind.  It doesn't make sense, (my guess is) 95% of kiddos diagnosed with CDKL5 are non-ambulatory, the majority are non-weight bearing, the same percentage if not more have atrocious seizures, it just doesn't make sense!  How did she get a compression fracture when she cannot even sit? How did she get a buckle fracture in her right ankle when she hasn't even put AFO's on in months?  What caused all of her fractures in September?  These are small fractures, they do not require any casting or surgery.  I decided to call the CDKL5 clinic and ask for orthopedics and endocrinology to consult when we go in 2 weeks.  I was told that they will consult with orthopedics, but this is not a CDKL5 issue and they recommend further testing.  I immediately emailed Sonzee's geneticist and explained the situation, who after hearing CDKL5 clinic recommended the testing said she had no problem starting with the sequencing panel for brittle bones.

In 2015 when genetic testing was offered to "find the cause of Sonzee's seizures", I didn't understand what that truly meant.  I have always been thankful that we didn't have to spend years of her life wondering "why" she was the way she was, but I feel like it has prevented us from seeing clearly.  I don't know how I am supposed to be feeling right now, but it is a mixture of hope for a clear cut answer, of sadness over what that answer is likely to reveal, and fear over what it will mean for her.  The days before we were told CDKL5 I said I needed an answer, and as long as we had one I could deal with it.  I feel like I am at that point again...I need an answer and we will deal with whatever it is.

"As long as one keeps searching, the answers come"-Joan Baez

Life isn't...

I can't seem to shake the words Sonzee's GI doctor said to us during one of our visits over the past year when we were debating putting her on gut rest.  The words keep taunting me, popping up during every diaper change, every time we put the thermometer into her ear, every time we pick her up and carry her, during every transition, every time we get her dressed, and really every time she moves.  During and for at least 1-5 minutes after each and every one of those previously mentioned activities she screams out loud and cries hysterically while her body trembles and shakes. 

"I don't know if it will help, because her body will find something else to interpret as pain".

I keep telling myself but for two weeks she was perfectly happy.  It was only after we did the infusion for her bones that the proverbial avalanche started.  The one that we still cannot seem to get to the bottom of.  Was it just a trigger?  Will the pain eventually dissipate?  Did we just divert the pain but not really solve anything?  Is this just a small bump in the road on the path to recovery, or is this going to be her new norm?  Did we not only lose the happy bear we were so beyond excited to meet and get to know but instead make things worse for her?  Did we just spend 22 days inpatient for nothing?  Did we introduce a vessel of potential bacteria that could kill her for nothing? 

How much longer will this last?  Why does every good intention end with a huge lump in the back of my throat and tears in my eyes?  Why does she always have to suffer at our expense?  I want to just fall to my knees and scream, we are just trying to help her, WHY??? why is it another thing?! Why can't she be given a break?!?  Just once I would like a decision we make on her behalf to actually help her and not cause a secondary backlash.  Was it the solution to the gut pain?  Was this going to occur despite the "GI pain distraction/elimination" no matter when we did the bone infusion? If not the bone infusion would it have been something else? 

Sadly, I have played this game before.  We have been here so many times I only wish I was numb to it.  I know that we won't ever receive any answers to any of the above questions.  We will simply have to let time give us some cryptic answer that won't be straightforward and will likely only come from us having to make another educated guess.  Life isn't always perfect.  Life isn't always easy, and life certainly does not always make sense.

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Recovery

It has been one week and a day and a half since we have been back home.  It seems that every time this chapter repeats, the recovery is always different and becomes more difficult.  I wish I knew why.  Maybe because the reasons behind the initial admission are rarely ever the same.  Maybe it is because the situation, and life surrounded with the complexities of CDKL5 in general effects every family member in a different way.  Maybe it is just because we are all exhausted from everything that is constantly thrown our way.  I can throw out my guesses from now until I am blue in the face, but odds are the reason will just be added to my never ending list of things I won't ever understand and lengthy list of "we won't ever know why".

These situations literally drain the life out of my body and take me weeks, really months, to truthfully be back to okay, or whatever okay has even become over the last 3 years and 7.5 months.  It is usually just enough time for another floor to be pulled out from under us so we can start sliding down into the dark CDKL5 abyss.  This past week after my rock bottom moment Sam reminded me that if I am feeling overwhelmed then odds are everyone in the house is feeling it too because this life is not normal.  It is true, nothing about any of the situations we find ourselves in when it comes to Sonzee and her life is normal.  None of them are fair and none of them do or ever will make any semblance of sense.

Yet here we are again playing the same game but with different specifics.  The all too familiar chaos that unearths another consideration, another complication, another source of suffering for Sonzee, and another bout of muddy clarity for the rest of us.  I wish I really knew what all of these hospitalizations and inconsistent crazy home life was doing for Sonzee's siblings.  I wish I really knew and was able to truly understand what Sonzee's perspective and overall desires over everything were.  Are we still making the correct decisions and are they the ones she really wants?  Most importantly, will we ever truly know the truth to that last one and what would we do if she disagreed?

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How? Why? When?

Seizures have been consistently horrific since their debut (again) after the brief VNS miracle wore off back in July, however, this month it appears Sonzee is about to break her personal monthly record.  With three days of January still remaining, as of Sunday she was tied for October and December with a minimum of 415 minutes spent actively seizing each of those months...that is at least 6.917 hours.  Those numbers do not represent any questionable activity or brief spasms (even in clusters).  She has required at least one rescue medication a week since October, and we are extremely conservative with giving her those.  I am at a loss for words, I really do not understand, how does this happen? when is this horror going to stop? what is left for us to do?

I know this is what life is when CDKL5 is the diagnosis, but I am having such a difficult time accepting this for Sonzee.  She hardly complains except when the seizures are so horrible for her that they cause her to whimper afterward.  She puts up with every episode like a champ, sometimes even continuing on with whatever activity she was previously doing rather than falling asleep.  Regardless of how she handles each one, none of them are okay, none of them should be happening.  Why won't they just stop?  Why won't these medications we throw at them actually work?  Why is there absolutely nothing we can do for her?

I have become so used to seizures being part of our daily routine, their shock value has become nonexistent to me despite how dangerous they are and can potentially be.  I vividly remember the days when I wondered who would let their child seize 30 seconds much less 2 minutes before administering a rescue medication like the directions stated.  Now I wonder how I could possibly give her a rescue med at only 2 minutes when she will typically stop on her own around 5-6 minutes.  I have found myself saying, "what's 10 minutes?"  Are the addictive properties better or worse than the potential brain damage she could be experiencing?  Her brain activity isn't typical regardless, so I would prefer she not be exposed to more medications and so the clock can tick on. 

I wish someone could tell me how any part of this should be considered normal?, or why she continuously has to suffer? or when it will stop.  If I could have one wish granted it would be for her to wake up and have a functional CDKL5 gene, but until then I will continue to wonder how? why? and when?


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What if it's not?

During this past pregnancy (as well as all the others) when people would ask me "do you know what you are having?" or "is the baby a boy or a girl?", it was typically followed with, "just as long as it is healthy".  I would nod my head in agreement because what else are you supposed to say?  It could get awkward really quickly if the next words spoken were, "What if the baby is not?".  Yet honestly, what if it's not?  I have been wondering to myself recently what exactly does a person mean when they say those words.  I can assume each person who makes the comment has a different reason as to why they have said those words, but really, what do they mean?

Me personally after having a child who ended up under the category of "what if the baby is not healthy", I can tell you I am not offended by the phrase itself; but during this last pregnancy the words took on a new meaning.  I am not ashamed to admit that I said "as long as he is healthy" aloud to anyone who asked me the gender question.  I know in a way that not every mother does what it means when your child falls under the other category.  I have lived in a hospital, my house is filled with medical supplies and equipment, my children excitedly yell "Sonzee's hospital" every time we drive by Phoenix children's hospital, I have watched her endure too many medical procedures, and I have had to play the "what happens if Sonzee doesn't make it this time" scenario in my head more times than I can count.  While some experiences of parenting are worth repeating, these are not ones I was begging to do with another child.

No one asks for "unhealthy", but sometimes that is just the card that gets played.  I promise I do not love Sonzee any differently than I do any of my children, but I also would never want to watch another child suffer like she must.  It is already too much to have to wonder what her thoughts are in regards to having to endure what she must on a daily basis.  Having to carry the burden of literally making life and/or death decisions on her behalf is often times just too much to handle.  When strangers would say "as long as the baby is healthy" my mind would of course turn to Sonzee.  Her almost three years has been filled with a mixture of joyous occasions and challenges, tears and some smiles, fear and hope, and missed milestones and completed inchstones.  It has been a roller coaster of emotions and events all along the way...and still I wonder when someone says "as long as the baby is healthy" what if the baby is not?

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Sonzee's Walk

Sam and I have never sat our older kids down just to discuss that Sonzee's genetic mutation puts her at an increased risk for leaving us sooner than we would want, however, over the past 23 months various situations have occurred that have exposed their innocent and (should be) sheltered minds to a different reality than most children.  They are smart kids and notice everything, we do our best to discuss the most challenging topics when they are not around, but then there is just the reality of it all that cannot be hidden.  We encourage an open dialogue because we want them all to be able to feel comfortable and sort through their individual feelings in the way that best suits each of them, so we have no secrets.  While I took many classes in psychology, I will be the first to admit that this department is completely out of my league.

Last year prior to Sonzee's month long hospitalization, our two oldest kids had a debate in the back of the car over whether G-d allows children to die.  It was settled by explaining that we all go back to G-d when our mission is complete and unfortunately for some it is when they are a child.  I doubted the adequacy of that answer for a while, but never wanted the answer to backfire so I felt that for our religious belief that was the "safest" reply.  CDKL5 has forced our children to be exposed to nuances that other children are (thankfully) spared.  During Sonzee's longest hospitalization our oldest decided after a week she did not want to visit her sister in the hospital anymore.  I was so afraid of what the outcome could have been for Sonzee and that as our oldest got older she might regret the decision she made.  Despite me feeling torn on the matter, we supported her decision and did not force her to go.  Thankfully, the outcome was positive.  As we continue this journey our children get older and obviously, their understanding of the situation becomes greater, unfortunately for me I feel like I need a cheat sheet of the top 5 most difficult questions a child can ask (randomly) regarding their medically complex sibling so that I will be more prepared.

Yesterday we attended the Friendship Circle's Jonathan's walk.  Friendship circle is a fantastic organization that bridges special needs families and the community by giving "buddies" to special needs children.  They also host events such as Jonathan's Walk to honor a child who unfortunately passed away.  (I would highly recommend those of my friends who have a child with special needs to consider this organization near you).  Last night as Sam tucked in our oldest it was his turn to be faced with the challenging question.  (Yahtzee!).  She has a glitter tattoo on her arm from the walk and was looking at it when she asks, "Aba, when Sonzee dies will we do a walk for her?", Sam was caught off guard so he said he didn't want to talk about (I won't hold it against him, but we are creating a list of answers that explain how we all handle the situation differently and while we encourage questions and discussion sometimes a person isn't wanting to have the discussion right then.). Our daughter then continued to say, "Yes, Sonzee's walk, I like that, we'll do that".  

We can add this to the group of "things that are challenging when you have a child who has CDKL5 or a terminal illness and he/she has siblings".  I wish her mind did not have to have these thoughts.  I wish it was not such a "routine" type of thought, as if she was asking for a drink of water before bed.  I do not know what hurts me more right now, the fact that one day we might have a "Sonzee's walk", the fact that my 7-year-old is the one who mentioned it, or the fact that we are all exposed to this as "our life".

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Pity

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 emotion....do 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.

Are you done?

Ever since Sam and I married, we have been asked about having children.  First, it was "when do you want kids?”  If you know me at all, you know that I have wanted kids since I was a little girl, so that was an obvious answer.  The next question was "how many?”  I am unsure if Sam and I had a concrete answer at the beginning.  As a child I had always envision between four or six, because five is an odd number.  With each child, we added into our family we would stop and consider what changes an additional child would add to whatever our current situation was.  Then we were given Sonzee.

Prior to Sonzee, I honestly never really considered that we would have a special needs child.  Being in the field of speech language pathology, I was not even really fearful of having a child who might require additional attention, but then again I had never heard of CDKL5 prior to April 17, 2015.  

When I was pregnant with Sonzee, we thought for sure she was a boy.  We had two girls already and only one boy, so obviously this baby was a boy.  I spent an entire eight months envisioning a "girl’s room" and "boys room".  It only dawned on me a month before she was born that this baby could very well be a girl.  I nearly had a panic attack trying to figure out how we would be putting three girls into one bedroom.  (I suppose I should thank G-d for solving that problem).

When we were asked if we would have more children we would joke and say "fourth and final".  I wanted to put that on a sticker for my maternity pictures, but Sam said, "Don't do that, because what if we have another and then that child thinks he/she wasn't wanted".  (No, I am currently not expecting, but I suppose that was some decent foresight).

Prior to Sonzee being born I think I was undecided if I would "want" a fifth child, but I was fairly “certain" that we would be good with four kids.  Six is a nice solid family number, four is an even number of kids, and it would be the "perfect" family.  Now we have Sonzee and three other amazing children.  Yet when I am asked, "are you done?" my reply is not so straightforward.  "Undecided" is my typical response.  

I know I do not owe anyone an explanation as to why we would or would not want another child, but I often struggle with what people would think since we already have four kids and one is special needs.  Would our choice to have a fifth make people think negatively of us?  Shouldn't we just be happy with the kids we already have?  I struggle internally as well.  There are so many positives to having another child, but also so many unknowns.  

I personally do not worry about whether another child of ours would have a CDKL5 mutation, anything is possible, but it is not a hereditary genetic disorder in our case.  Could another child have a disability?  Sure, they could, but that would obviously be what was in the cards for us.  Are we crazy?  Well I would say yes since we have chosen to have four kids on separate occasions.  (Insert stick out the tongue face).

Usually I wonder about my older kiddos, but they have mentioned to us about wanting to have another sibling on multiple occasions.  Would Sam and I get a chance to be better "first time parents" in a sense?  (There would be nothing taken for granted that would be for sure).  What if Sonzee had a bad year the same time a new child was born?  So many questions to siphon through, so many answers we might never get.  Nevertheless, since everything often circles back to Sonzee, what I have been sitting here meddling with is maybe becoming a big sister is something we need to add to her adventure list?!

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