It sucks

Here I am, again, finding myself writing the words "Sonzee has lost another CDKL5 sister".  Each of the girls that we have recently lost has affected me for different reasons.  It just goes to show how one person is capable of so much.  It is also a great representation that even though these girls share a similar genetic presentation, they are all unique and special individually.  Our most recent loss was of little 4 year old Dani, who while not "officially diagnosed" with CDKL5, presented with all of the same attributes as a child with CDKL5 and was awaiting a formal "acceptance letter" from results of her genetic testing.  

Her family had just moved to Phoenix and her mother and I had been in daily communication recently discussing providers and talking about the girls.  I was so excited about forming a friendship with another mother who has a daughter only a couple of years older than the bear that I could spend time with, who has been on a similar journey, who just plain "gets it".  I am still looking forward to what will become of our relationship, but I know at this point in time, her family has to work on developing their "new normal" without their precious Dani.

This just plain sucks.

Why on earth does anyone have to bury his or her child?  I will not ever understand it and I do not think I even want to.  I just know that despite the numbness I feel when I hear another child with CDKL5 has passed, there is an indescribable pain in my heart.  It is a pain that I am sure parents of a child with CDKL5 understand, but others might not.  I have said before how challenging it is to be in this position, trapped between the present and hopeful future.  It is challenging to keep hearing that these other precious children "are not Sonzee" and to rationalize the differences.  It is frustrating having to explain that even though I am hopeful for Sonzee's future, and even though, yes Sonzee is different, I am not naive enough to think we will be special enough to avoid this path.  I know some of you are thinking, "You don't know this is true", "Anything can happen to any of your children"...you are not incorrect in your thoughts, but whether you want to believe it or not...neither am I.  

This just plain sucks.

I do not hate CDKL5 because as another mother of a CDKL5 sister so accurately put it, it is part of our children.  It is what makes them who they are.  It is what makes Sonzee unique and special.  

However, it just plain sucks.    


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Epilepsy Blog Relay: Living with a child with epilepsy

This post is part of the Epilepsy Blog Relay™ which will run from March 1 through March 31. Follow along and add comments to posts that inspire you!

In 11 days, it will be a year since the words seizures and epilepsy weaved their way into my life.  In the beginning each time the word was mentioned and I looked at my one-month-old daughter, my heart sank, fresh tears filled my eyes, and panic set in.  The word itself could send me into a tizzy.  When the child life specialist came into the room at our local children's hospital, she asked me if I knew what the term "epilepsy" meant.  To be honest, I had heard the word throughout my life, but did not know much about it.  I definitely did not think about it, and I can assure you when I pictured my future, the words seizure, epilepsy, and infantile spasms were not part of it.  Like other times before and I am sure yet to come, the life I so carefully planned was altered and I along with our family embarked on our new normal.  A normal filled with epilepsy at its core.

When your child is diagnosed with epilepsy, so many questions fill your mind.  You immediately want to know what is causing the seizures, hoping the answer might bring you some relief.  You want to know if developmental milestones will be met and if so, will they be on time?  When you learn that your daughter has a genetic disorder as the cause of her seizures, that she will most likely never have seizure freedom, and that her development will be delayed, things can seem hopeless.  Everyday becomes a battle to hold onto hope that there will be a miracle, that there will be a cure, that your child will defeat the odds.  Hope becomes your lifeline, the word you turn to for comfort, the word that brings a smile to your face, the word that gives you something to cling to in times of defeat and despair.  

It has almost been a year since our first ER visit.  In that amount of time I have witnessed my baby girl seize between 1-10 times a day, sometimes those seizures involve 40 mini seizures in one episode.  Her episodes have been as short as 8 seconds and some upwards of 6 minutes.  Her body has stiffened, shaken, and contorted into positions that are challenging to describe.  Similar to any new experience, at first you are scared, nervous, and unsure, then as the days go by you realize "you've got this" and the fear is replaced with a sense of comfort because it is no longer foreign.  With experience comes understanding, with understanding comes knowledge, and with knowledge comes strength.  Things are easier to manage, easier to talk about, easier to explain.  I have gotten used to my daughter having seizures; it is part of our daily routine; similar to changing her diaper or giving her a bottle.  I cannot remember our life before we dealt with seizures and I try not to fantasize about a life without them.  

Living a life with epilepsy means taking daily medications.  It means living a life based on trial and error and uncertainty of whether the medications will work or not.  It means making diet adjustments and as a parent pushing your moral compass regarding potential therapeutic measures that are not federally approved.  One of the worst parts of having a child who experiences seizures is that I cannot relate to her experience.  I have no idea what a seizure feels like; she cannot tell me what she wants me to do for her right before, during, or afterward.  What is worse than watching her seize is wondering if I am comforting her the way she wants.  

When your child has epilepsy, you are always on the edge of your seat...waiting, unsure when the next seizure will occur.  You are always on high alert.  It is when you least expect it, when you finally start to relax that you can be sure one will strike.  Seizures are not events of convenience, they happen in the car, during sleep, while eating, or while lying around and playing.  We have our typical "seizure routine" that we follow when our daughter has a seizure, our children know it well.  It actually brings a smile to my face when our two year old daughter tells the baby "It's otay...You otay Dondee" (Translation: "It's okay, You are okay Sonzee").  It is one of those glorified parenting moments when you receive validation that you are doing something right.  Even despite the unfortunate circumstances that surround us, epilepsy has made a positive impact on all my children, my husband, and me.  

NEXT UP: 
Be sure to check out the next post tomorrow at http://livingwellwithepilepsy.com for more on Epilepsy Awareness. For the full schedule of bloggers visit livingwellwithepilepsy.com/epilepsy-blog-relay.  Be sure to check out the Epilepsy Blog Relay Thunderclap to raise epilepsy awareness. And don’t miss your chance to connect with bloggers on the #LivingWellChat on March 31 at 7PM ET.

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Sonzee becomes a "Tubie"

Lately I have been throwing out names of feeding tubes as if they are common household appliances.  It is pretty amazing how only a year ago none of these terms were part of my typical every day speech and now they have become part of my "professional jargon".  Sometimes I forget how little I used to know and how different life used to be.  I honestly do not think I ever saw a feeding tube in a person's stomach until Sonzee's birthday party when a friend of ours brought her daughter.  I honestly had not even google imaged what they looked like after Sonzee's initial consultation with the surgeon and I do not even know why.  

There are so many types of feeding tubes and various reasons why families might choose one over another, so for the sake of this post, I will explain the type of tube we are doing for Sonzee and explain our rationale for the choice.  Please know there is no right or wrong choice when it comes to choosing the type of tube a person uses, it is all about what works for the family and the situation.  The most important thing to remember is that any way you can get your child to meet his/her nutritional requirements is the BEST way.

From the start, I was very clear that I did not want something that would potentially interfere with Sonzee's desire to eat.  An NG tube goes up the nose and down the back of the throat and ends up in the stomach.  Many families may choose this route if the feeding tube is assumed temporary, if they just want to give a tube a "trial run" so to speak, or because they do not want their child to undergo a surgery.  I personally was against this option because the tube being placed against the back of Sonzee's throat could be such a nuisance to her that she may decide she would rather not eat by mouth.  The reason we are doing a feeding tube for Sonzee is not that her swallowing muscles are weak, nor is she on any food restrictions as far as thickness of liquids or textures of food.  It is because of these reasons; we immediately ruled out the NG tube and settled on a tube that goes directly into the stomach (gtube).  

Originally, Sonzee was scheduled to have a MIC-KEY button.  After speaking with many families, we settled on the MIC-KEY button due to its ease of use as well as the fact that it was inserted directly into her stomach.  The MIC-KEY button does not have any extensions hanging out of the stomach that can be pulled on, and it is easy to clean and easy to change at home.  The problem in Sonzee's case with the MIC-KEY button is that this procedure requires interior staples that with her high dosage of steroids could potentially have problems healing, and she would have a higher risk of developing a post-operative infection.  While her neurologist felt the steroids were not worth putting off until after we rescheduled her surgery we all agreed an NG tube would be our temporary fix.  I was not ecstatic over this decision, but whatever is best for Sonze.  

After multiple back and forth phone calls between the interventional radiology team and Sonzee's AMAZING pediatrician, we were advised that a PEG tube could be our temporary solution.  The PEG tube is similar to the MIC-KEY button in that it is directly placed into the stomach, but there is an extension that hangs out a couple of inches.  This procedure does not require staples, and will give the insertion site ample time to heal before changing to the MIC-KEY button.  We feel this will be a great solution, and we have been advised by multiple medical doctors that the high dose of steroids she is currently taking should not pose a problem for this surgery.  

Her surgery will be Thursday, March 10 at 8am.  I am a little nervous due to our last experience, but March 10 is an auspicious day as Sonzee's Bubbie celebrates her birthday, so it is already looking to be a positive experience.  Please keep the bear and the rest of us in your prayers this week and especially on Thursday morning.

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When hope feels distant

We knew this day would happen.  We had hoped and prayed that by some long shot miracle Sonzee would be part of the 50% of kids with CDKL5 who did not have infantile spasms or hypsarrhythmia.  We also hoped and prayed that she would have her honeymoon period from seizures, even if only for a couple of months...maybe there is still a chance of that occurring, but yet here we are.

The order has been placed for an in home pulse ox machine and blood pressure monitor.  If Aetna stops being ridiculous they will be delivered today.  I have separated and labeled a weekly pillbox with 10 additional pills to add to her daily medications.  I have received food recipes so we can give the bear her steroids with some flavor and still maintain some semblance of ketosis.  I so wish right now that she had the Gtube to make this easier for her.  She dislikes taking her crushed up Keppra by mouth as it is.  I have taken steroids before myself...this is going to be a challenge.  I can only hope her NG tube will be placed sooner rather than later.  That will be most helpful for the middle of the night servings.

I am feeling the hope I once clung to slowly slip away.  The hope of her meeting milestones, the hope of her experiencing seizure freedom, the hope of things not being so complicated...all the various types of hope...almost gone...it’s becoming almost impossible to see clearly.  Every time I think it is just a little hurdle we have to jump over it ends up feeling more like an attempt to climb up a 100 foot smooth solid wall.  

I feel so betrayed by the optimistic thoughts I had in my fantasyland.  The daydreams I let my mind wonder into.  I am mad that I let myself even consider that this course would be avoidable.  We really were so naïve thinking that Sonze being (one of) the youngest diagnosed children with CDKL5 would somehow make things better for her.  All the good it has done; she is no better off than those who did not have a diagnosis when they were her age.  It is still treatment by trial and error.  No one has a cure and I am still just as unsure of her future and clueless about her prognosis as others are.

I am experiencing a plethora of emotions.  While at peace with our decision, I still consider this treatment a horrendous option that we must try to attempt to try to gain some control for her.  The combination of all of my feelings within me does not even make sense to me to be honest.  I feel so perturbed, so distraught, so numb, so nervous, and even a little gitty.  I am drained and just plain exhausted.  I want to say I have hope that this treatment will work...but there are enough kids who have CDKL5 who were unsuccessfully treated, that I feel that would be unfair to do to myself.  It is tough to maintain the balance between realistic expectations and remaining hopeful, eager, optimistic.  

I do not know how many more bouts of disappointment I can handle.  This girl needs a break.  If I am honest, I need her to have a break.  Watching her have these spasms has taken its toll, and while my hope may be dwindling, I will keep my faith in g-d that he knows it is time for us to experience a miracle...even if it is brief.  Even if it's only purpose is to restore my spirits and give me back the tiniest sliver of hope...because without a restoration of hope, continuing on this journey will be damn near impossible.

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Rolling with the punches

Life is all about rolling with the punches.  Lately, punches are exactly what have been coming at us.  Sam and I were so nervous about Sonzee's g-tube procedure that when things went South on Friday we felt like we had lost our abilities to breathe.  We had been back and forth with our decision to get the gtube all week long.  I honestly almost cancelled it two times during that week alone.  I have been comparing the experience with a flight cancellation.  When you miss your plane or your flight is cancelled and you are placed on another, there is that brief moment where you might find yourself wondering, "which one of these flights is going to crash?”  Maybe you are not as neurotic as I am, but I have definitely had that thought when my flight plans have changed.  The thought that both Sam and I wondered was, "Is this G-d's way of saying we shouldn't be getting a gtube for Sonzee?"  Did we just dodge a bullet or is it more of the message, "Now isn't the time".

One of the twists of our weekend in the hospital was that we finally got Sonzee to have her EEG that we have been essentially begging for since she weaned from Topamax.  I am pretty sure her epileptologist was holding off giving the Ketogenic diet more of a chance to do its thing prior to looking at her brain's background.  We all had an idea that she had hypsarrhythmia, I had sent some videos of her most recent spasm episodes over to her doctor last week, and it was decided on Thursday that following the surgery, she would have an EEG, and then after the surgery site was healed she would most likely be starting the prednisolone.  Either way, this road was going to be traveled.  The order just threw us off our game.  

I have been emailing with her epileptologist since Sunday and as soon as the bear is over her little cold, she will be starting 40mg a day of prednisolone for two weeks.  After the two weeks, she will have a repeat EEG and if the hypsarrhythmia is gone, she will begin a four week wean.  If there is still hypsarrhythmia then she will continue another two weeks at 60mg of prednisolone a day and then have the four week wean.  Our team has decided it is more imperative that we treat the hypsarrhythmia at this point vs waiting until after a gtube has been placed and healed.  Due to the dose of the prednisolone, we are unable to do the gtube simultaneously with the prednisolone as her immune system will be depressed and healing would be challenging.  We are working on scheduling an NG tube placement for the duration of the steroid treatment, and then we will reschedule the gtube placement afterwards.

She will remain on the ketogenic diet; we just will not be as concerned about her ketone levels needing to be high.  We will also be receiving some stage one food recipes so we hope it will help with the anticipated bear-like appetite, as well as administering her steroids.  I am sure the punches will continue to roll in as we deal with some of the ugly potential side effects of the high dose of steroids.  

Sam and I are at peace with our teams decision.  We feel that we have done our best with all of the medical decisions we have made for the bear along the way, and even though we were unable to "outsmart" the hypsarrhythmia, we gave it our all.  Some things in life are just unavoidable no matter how much you try your best.  

We are praying that she only has to complete this treatment once, and that we will successfully rid her of these ugly spasms.  We are praying that she will have as few side effects as possible from the treatment.  We are praying that she will have a honeymoon period from all of her seizures during or after the treatment.  We are praying that this experience will turn out to be one that we praise and would do all over again if we were asked.

Thank you all for your unwavering support and love, and thank you for helping us continue to roll with the punches.

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