The Little Green Dress

When Sonzee was first diagnosed the immediate thing that occurred was exactly what her diagnosing physician warned us against; going onto the internet and googling C D K L 5.  Within 2 minutes our world around us crumbled and life as we knew it was never going to be the same.  A mere 5 character string that weighed more than our at the time maybe 9lb daughter.  A string of characters that we didn't quite understand more than it meant we had found our reason for her seizures.  It was the answer we had desperately sought but that we no longer wanted to have found. Yet through the darkness came a network, a secret club, really an immediate family we had no idea that existed up until then.

I cannot exactly remember the first time I learned of the CDKL5 little green dress, but it has been close to Sonzee's entire life since she was diagnosed so early on.  The dress began its travels in the UK and has traveled around the world since it began its journey years ago.  Facebook has really helped give it a sort of fame if you will, as it was the pictures previous recipients (members of our CDKL5 family) postings that originally caught my eye.  Over the course of its travels, I watched as parents dressed up their little girls in a green fairy dress, thinking how sweet the girls looked in the dress, but not thinking too much more about the bigger picture.   That was until last week when the box found its way into our house.

I waited a day to open the box because it was delivered right before Yom Kippur.  I knew no picture would be taking place on Wednesday, so I didn't feel the need to see the entire box's contents.  Immediately after the holiday ended I opened the box.  I saw a smaller box inside and I knew once I peaked inside that I was going to need some moments with that box.  This dress to me is more than a dress with fairy wings and some lime green accessories.  There are children who have worn this dress who are no longer with us, there are children who will wear the dress in years to come who have not even been diagnosed yet, maybe who have not even been born yet.  There is a world that is represented in this dress that is indescribable. 

After I took Sonzee's picture I posted this on her facebook page.  I won't ever know why our family was chosen to live among this community of rare.  I won't ever understand why my daughter has to struggle to live each day and why she has to have seizures all the time.  I won't ever be privy to the details of the greater plan, and truthfully, I am not even sure I would want to even entertain what I would be told because I would probably still be annoyed, upset, disappointed, and downright irate over the reason.  Yet, one thing I do know, one thing I won't ever take for granted, and one thing this dress symbolizes is that we are never alone on this journey.  There are families who have lived this journey before us, there are families living this journey alongside us, and there will be families living this journey after us...and that is something that is unique, powerful, and ironically beautiful about this whole entire world of CDKL5.

You'll get used to it

"You'll get used to it"

The words I heard at 3am a little over 2 years and a month ago when I first brought Sonzee into the ER.  I remember how angry that phrase made me and how badly I wanted to punch the nurse who said them.  While it wasn't the most ideal time for her to say those words aloud, it turned out she was right.

Sonzee is back in surgery.  They called about 5 minutes ago to say that her doctor began the procedure.  It should be approximately 90 minutes until she is done and we get to see her.  I am sitting in my comfort spot with my "usual" PCH breakfast, a salted caramel oatmeal and a coffee, and I am blogging. This is my normal and I am used to it.  There shouldn't be anything routine about your child going under anesthesia but then again a life with CDKL5 shouldn't be either, yet this is life.

I am not even phased anymore about these types of procedures, they carry risks I don't even listen to because if I entertained them I wouldn't be able to breathe.  I don't even ask to hear statistics and if they are mentioned I honestly don't listen, because let's face it, when you become a statistic, what does it matter anymore?  I prefer to just ride out this journey without being fogged by the "chances are" because Sonzee's odds are completely her own, and I have learned if there is a small chance of nothing, with her it can become something; and if there is a small chance of something it can become nothing.

So here I am 2 years later and I want to go back to that nurse and tell her that her delivery was a smidgen off, but she was right, I will get used to it.



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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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Over thinking

When it comes to little bear there are few items that tend to fall in the "treat this as a typical baby" category.  Since Sonzee entered our lives, the decisions we have had to make have required an intense amount of deliberation and reevaluation to ensure the best answer was reached.  The topics tend to revolve around medications, feeding, pretty much everything that would involve keeping a child alive and giving her the best chance at living healthily.  Now that thankfully she is growing and thriving, we are actually being faced with the more typical baby/toddler dilemmas.  In turn, I recently realized (as in yesterday) that due to this way of thinking that we have been forced into, I still treat each item regardless of its importance in the same manner.

One of the more challenging things for me has been how I treat Sonzee as far as her cognitive capabilities.  Her body size and what she is capable of expressively has always been significantly younger than what her actual age is.  To give you a good idea, if I had to give her physical capabilities a respective age, I would say she is around 3-4 months old.  This is tricky on my brain, as I have to remember that she is actually 18 months old, and if you asked me what her cognitive age is, I would say it is definitely close if not right around 18 months old.  I know she understands what we say, and I know her challenges come from trying to express that to us.  She may not be able to control her body in the manner she wishes, but she knows what she wants and what she does not want and she does very typical 18-month-old things.

My problem is that because of this challenge I tend to overthink everything I do when it comes to her instead of treating her like I would if she were a typical 18 month old.  It is so hard for me to give her a consequence for her actions because what if I am wrong?  What if she doesn't understand when I think she does?  She demonstrates daily what she understands.  Yesterday specifically she was lying on her tummy, I referred to her tushy, and she wiggled it.  If I talk about her feet, she will attempt to grab for them.  I think this one of those gray areas of special needs parenting that I am going to need finagle my way through.  The best part of this...it is no different from being a parent of a typical kiddo.

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What's wrong with her?

They warn you to brace yourself; to be sure you are ready for that dreaded moment.  The moment that will come out of the blue, unexpected and will catch you completely off guard.  The one where you are simply just being a typical mom and then the innocent question presents itself.  "What's wrong with her"?  If you have a child with special needs, you might have even prepared a script for when this moment might occur.  Odds are even if you did, you will forget it when the time comes anyway and in some instances that might not be the worst thing.  What is not always shared is that sometimes this question will actually evoke a feeling inside you not of anger nor of sadness, but actually of pride and happiness.

There we were at a playground on Saturday afternoon.  Two seven-year-old girls playing with Sonzee's older sister walked over to the stroller.  They looked at little bear and they said, "What's wrong with her?" as they pointed to the feeding tube coming out from her nose.  A look of curiosity and confusion filled their faces.  I did not feel the punch in the gut that I would have expected.  I did not panic, and I did not want to crawl inside a cave.  I wanted to celebrate.  I wanted to educate.  I wanted to explain as much as they wanted to know.

What courage it took these girls to ask and not point, stare, and walk away.  They were so interested in what I told them, they continued to ask questions.  They looked at her and said "Hi", of course, Sonzee did not give a bright-toothed grin, nor did she even acknowledge they were there.  "How old is she?", "17 months"...Does she talk?”  ..."no, she can't", I still turned to Sonzee and I said, "Say hi Sonzee"...."How does she say hi if she can't talk?”  ...I am still figuring a good answer for that question and it has been 2 days.  I explained her feeding tube in the best way possible so that two young girls who probably have never thought about their anatomy involving the digestion of food could understand.  They walked away satisfied with my replies.  I felt relief at how the exchange occurred.  I felt excited they cared enough to ask questions.

I anticipated a moment like this to leave me choking back tears and feeling discouraged.  Instead, I found myself beaming with pride and happiness that Sonzee mattered.  There are so many times that I am asked, "How old is she?”  I reply "17 months"....silence follows.  I often wonder if I lied and said she was 7 months would people then reply, "Oh she is so cute", "Look at her little rolls", "She is just so yummy".  I can see the discomfort on the faces of many when they walk over and see the tube in her nose.  I know they want to know why.  I so wish they would ask.  I will continue to brace myself for the day that a question rubs me the wrong way, but celebrate the opportunity to educate another person.

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Retrospect

One of the best things about this blog is that it allows me to go back to a specific time and see what my actual thoughts were at a specific point on this journey.  As I begin to read the first sentence of my previous posts I am actually transported back in time to the exact moment I wrote the words for the first time.  The brain is such a fascinating tool in that sense, capable of triggering memories so vividly and easily.  When I read some of my posts I think about how the feelings I had are still the same to me now.  There are a lot of posts that still leave me unsure, while others leave me almost annoyed with how naive I once was.  I guess all the emotions are just a true representation of the stages a person can go through while on a journey such as this one.  The good, the bad, the ugly...but all the truth.

Prior to beginning this post I decided to view some of my writings from last June.  "Wonder", "Hope", "Experience", just three examples of the names of posts written during CDKL5 Awareness month in 2015.  It is a year later and I could easily write sequels to each one, but they would probably be headed in completely different directions.  When I read my older posts I can almost believe the actual hope and the actual belief in a miracle I once had.  I can still feel the certainty I once had that Sonzee would defy the odds and she would excel in areas that previously diagnosis children had not.  Part of me pities my older self for thinking those words could actually become our reality, Sonzee's reality.  The other part of me is so angry that I no longer have faith in those wishful words.  

I actually feel ashamed for admitting that aloud.  It makes me feel like a bad person for acknowledging that I currently don't have any hope or belief in a cure for Sonze, or that I actually do not expect her to defy the odds.  It makes me feel so weak, like I have let this disorder take the dreamer out of me.  It makes me feel like I am letting people down because I am not as strong as people consider me to be.  Then on the flip side I feel justified that I am not living in a fantasy land of maybes, could be's, or what ifs.  That doesn't do any good for myself, for our family, or especially for Sonze.  It makes me feel strong that I am able to be honest and realistic about such a devastating disorder and not sleep away my life or want to hide away from the world.  It makes me feel like I am letting people know it is okay to be true to their feelings and that there is no correct way to deal with a diagnosis such as a CDKL5 mutation.

This ride is turning into more of a "Tower of Terror" experience.  Moving around on the ground floor, then going upwards until finally you are located in the elevator shaft.  You brace yourself ready for the great 13 floor drop only for the drop sequence to be randomized for each elevator car.  So you find yourself going up and down never really certain how far you will actually drop each time or how many times you will fall during your single ride.  One thing is certain, you will eventually fall 199 feet and land safely at the bottom of the elevator shaft.


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Keep going

I am pretty sure it was quite obvious that by the end of last week I hit a personal low.  Those times are never easy to acknowledge or admit aloud, but thankfully this blog and all of the support that accompanies it has allowed me to really feel and embrace the emotions that come with being a parent of a child who has special needs.  There is always beauty in this chaotic and insane life I am a part of, but some days I do not want to see it.  Some days I just want to schedule some me time to wallow in self-pity, eat unhealthy foods, drink a glass a wine (or a frozen margarita) and just feel all of the pain that I work so hard to keep bottled up inside.  I feel like every once and a while it is okay to take a day to feel sorry for myself, but then I need to come back to reality and embrace the position that I have been placed into.

It is usually after I experience the darker days that I am more rejuvenated to get back on the horse.  I feel a sense of eagerness and excitement to tackle the tough times, embrace the joy, and celebrate the tiniest fetes.  It is as if my old blood has been replaced with healthier more positive blood that helps me to better function.  Once I "return" there is a sense of ease that sits within me, a new appreciation for the role I am playing in this life.  It is at this point, where I give in to the fact that I have no control over what the future holds and I just need to buckle up.

After a year, I can say this is my favorite part of the coaster.  The part right after the harness comes down across my chest and I tug it slightly to ensure it is secure and the coaster car pulls away to embark on the slow ascend to the top.  This is the part where I get to dangle my feet and think about everything that lies ahead with a sense of eagerness and slight tinge of fear.  The part where the course of the coaster is unknown but knowing deep down it is sure to be a thrilling ride.  It is during this time that I feel every emotion in me, but the sheer energy within me brings about a huge smile.  It is at this point when the Rascal Flatts song "Stand" fills my head and I just have to brace myself for the descent of the coaster.

"when push comes to shove

You taste what you're made of

You might bend till you break

'Cause it's all you can take

On your knees, you look up

Decide you've had enough

You get mad, you get strong

Wipe your hands, shake it off

Then you stand, then you stand"

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8 Things I Wish I Knew When Sonzee was first Diagnosed

We will soon be “celebrating” the one-year anniversary of Sonzee’s CDKL5 diagnosis day.  The results were identified after blood was taken on March 17, 2015, when she was only 4 weeks and 6 days old.  Just 9 days later on March 26, 2015 the genetic tests for the Early Infantile Epilepsy Panel were run.  This included testing for genetic sequencing errors on 80 genes that are responsible for infant and childhood epilepsy.  On April 11, 2015, when Sonzee was exactly 8 weeks old her report was electronically signed and we learned the cause of her seizures was due to an error on her CDKL5 gene.  I am still trying to figure out the best way to "honor" her diagnosis day.  As I continue to sort that out I will begin by sharing a list I came up with (with the help of Sam) of the 8 things I wish I knew when she was initially diagnosed almost a year ago.

1.  You will need time to grieve.
Grief is not solely reserved for those who have physically buried a child.  While you have not lost your child to death, you have lost the “perfect child” you anticipated you would have.  It takes time to come fully to terms with your child’s diagnosis.  Do not rush the process.  Even a year after the diagnosis, there are still days that result in grief.  Grief over the past, grief over the present and grief over the future life your child will lead.  Grief comes in waves and you should not expect to just “get over it”.  It is okay.  Allow yourself time to grieve over the expectations you had prior to the “finality” of the diagnosis.

2.       Do not be consumed by your grief.
While it is more than appropriate to grieve the loss of the child you anticipated, it is important not to let that grief overshadow the physical presence of your child.  You never know how long your child will be here on this earth and you don’t want to waste your precious time with him/her missing out on the joys of parenthood that do exist.  Live each day with as close to zero regrets as possible, so if g-d forbid you have to say goodbye sooner than you anticipated, you will not look back and say, “I wish I….”

3.       Having your child receive his/her diagnosis at an early age will NOT change the outcome. 
Not everyone is “fortunate” to have his or her child diagnosed when he/she is 8 weeks old.  We thought for sure that our daughter being the youngest child diagnosed with CDKL5 would mean that she would surpass the other children in the ages she would attain developmental milestones.  We thought since we had so many parents giving us advice regarding what they would have done had their child received their diagnosis early, that our daughter would be able to accomplish more and avoid more of the hurdles.  In the end, you can be as “prepared” as humanly possible, you can think you can outsmart the disorder, but when your child has a rare disorder, the rare disorder will still run its course.

4.       Having a diagnosis will give you closure in one sense, but will also leave you with doubts regarding the future.
You will hear many times that “at least you know”, or “you are so lucky that your child was diagnosed at such a young age”.  This is true on the one hand, as you have a support group available, you have a “projected route for your child’s journey”, and now all of the symptoms your child displays make sense.  On the other hand, you are seeing first-hand the ugly side of the diagnosis.  You will witness the struggles that potentially lie in your child’s future.  You will see babies and young children die along the way.  You are seeing a glimpse into the potential life your child will lead.  You can no longer hide yourself from the facts.  You are no longer able to be blissfully ignorant.  This can leave you feeling depressed and defeated.  It is okay, take it all in, and know that every child is different.  Your child will write his or her own story and follow her own path.  Just follow their lead.

5.       You are not a failure.  There will come times following your child’s diagnosis that you will look at other children and see their accomplishments and feel like it is YOUR fault that your child has not accomplished the same milestones.  All children develop individually at their own speed and have their own unique strengths.  What your child can and cannot do is NOT a reflection of how much time, energy, efforts, and love you are pouring into your child.

6.       Do not judge the parents who have older children with your child’s diagnosis.  When you look at children who are older with the same diagnosis as your child, your thoughts may wonder to “well if they knew early on then they would have been able to do this and that by now”.  You may think that enrolling your child in every therapy imaginable will make all the difference.  Keep in mind that all of those children were babies themselves and their parents did exactly what you are doing now, and they will always do right by their child as you will do for yours.  Just because you do not see their child meeting milestones, does NOT mean these parents are not working with their child every day.

7.       Lean on the parents of other children with your child’s diagnosis for support and guidance, they will be your best tool.
If you are as lucky as we have been to have an amazingly active and supportive online community that has children with your child’s diagnosis, become part of it.  Immerse yourself, make friends, and get to know the other children and parents.  They will be there in your time of need.  They get it.  They will lift you up when you are down, they will sing praises when your child excels.  No one knows what you are going through better than fellow parents.  No matter what part of the journey each parent is on, each mom and dad will welcome you into their lives as if you are family, because you now are.

8.       Trust your parenting gut.
You will spend a lot of time in and out of doctors’ offices and hospitals.  You will find professionals who have your child’s best interest at heart and others who will not.  Regardless, NO ONE is a better judge of what is going on with your child than YOU!  Trust your intuition and trust your knowledge.  YOU know more about your child than ANY doctor does.  ALWAYS go with your gut!

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When the dust settles

One of the first things to occur following a storm is looking around and assessing the damage.  It is only after the rain has passed and the dust has settled that you can truly gain your bearings.  Though the experience of surveying the damage might be one of the most emotional experiences, it will immediately become clear what has been lost forever and with time what might eventually be fixed.  There will be tears of joy at what remains intact and is salvageable, but there will also be tears over the storm itself and the loss that is now present.  It is only after the dust settles that you realize regardless of where the road takes you, you will continue on the journey that G-d has planned for you equipped with new knowledge under your belt and a new sense of HOPE.

The thing about the aftermath of a personal storm is that it is only then that you are able to analyze every moment, every conversation, and every emotion.  It is only as you are replaying the experience in your mind, on repeat, that you fully accept the emotions that you were putting to the side at the time simply so you could survive the storm itself.  It is only after you are picking up the pieces of the situation that you can fully understand and come to terms with what just happened.  I am a firm believer of allowing myself to feel every emotion.  I think it only fair to give each emotion its’ “moment of glory” so to speak, so that I am able to heal and move on.  In this case, I am processing just how close we really were to losing the bear last week.

This roller coaster of CDKL5 continues to bring its’ highs and lows. We have been feeling like we have been at rock bottom of this ride for some time waiting for our time to climb steadily back up to the top.  For all of those times we thought it could not get worse, it did.  We were flying out of control with the wind in our faces, scared out of our minds, hoping the ride would slow down, hoping we could get a hold on the situation.  If I had to pinpoint the beginning of our decent it was the Topamax wean, followed by the Gtube consult, followed by the diagnosis of hypsarrhythmia, and culminating at the failed gtube surgery attempt which led to a rescheduled PEG tube placement that coincided with a high dose steroid treatment resulting in an infection that almost took our little bear away.

I knew something was not quite right two weeks ago, I am glad I stuck with my guns and pushed the boundaries of neurotic mother and concerned mother of a child who has special needs.  Those two egos tend to battle it out on a regular basis.  It is hard to figure out which of those are “right”.  I have decided that they are both equally important and I really do not care what level of ridiculousness I have to go in order to be heard, even if that means playing the “my dad is a doctor card, please speak to him”.  Drastic times call for drastic measures, and this momma bear is unashamed.  This little bear continues to teach me more about myself every day.  We are so grateful she is such a fighter and that she still has a purpose left in her physical body.  Even though there are times that the “King Solomon mother” part of me wants her pain and suffering to be over, the selfish part of me does not want her to go.  It is such an awful position to be in as a mother.  If I were someone else reading this, my response would be “I can’t even imagine what she is experiencing, and I don’t even want to”.  Being that I am the one in this predicament, my response is “I can’t even imagine what I am experiencing, and I don’t even want to”. 

It has been 3 days since the bear is back in our home.  She is back to being clobbered by her older siblings, back to being physically present in our daily lives.  It has been 3 days since this current nightmare turned into one of the best days of the last year. The perfect storm is clearing up, the winds are settling, and I am left assessing the situation.  One of the greatest parts of what follows after the dust settles, is the restored sense of HOPE that you feel knowing that no matter what, even if the ride is not how you planned, with G-d’s help (and some sangria), you will make it. 

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Waterfalls

I can remember back to the 90's when TLC's song "Waterfalls" came out.  I am pretty sure I had a cassette version of their album and had all night slumber parties singing and dancing along to that song as well as their many others.  I have been sitting here this morning thinking towards the future with Sonzee; her constantly changing medication schedule, overall health, and potential seizure control.  The lyrics of the song managed to find their way out of my mental storage.  It always amazes me how much randomness is stored in the recesses of my brain.  Even though this song was not written with Sonzee bear in mind, the lyrics ring so true to me.

Don't go chasing waterfalls

Please stick to the rivers and the lakes that you're used to

I know that you're gonna have it your way or nothing at all

But I think you're moving too fast

It continues to be extremely easy to get carried away in the extreme tidal wave that is CDKL5.  If my worry isn't directly related to seizure control then it is her overall development or health in general that leaves me with questions.  I am always trying to be one step ahead of the potential madness, always thinking in some way I will be able to outsmart it.  I don't know why I feel I am a match for a genetic anomaly.  Biology and science in general has NEVER been a strong suit of mine.  What I know about genetics has only been brought to my attention in the last year.  There is absolutely NOTHING I can do about her condition.  As a parent this has got to be one of the WORST things.  Knowing that no matter what you do, in this case, it won't ever be good enough.  It can leave you in a constant state of panic, a constant state of worry, and a continuous state of feeling out of control.

We are always trying to figure out what the best medical cocktail would be for Sonze.  It is a fine line to balance seizure control with quality of life.  We want to be aggressive to give her the best chance to be happy and develop as well as she can, but at the same time not put her into a medical coma or expose her to too many harsh side effects.  It is a constant state of weighing pros and cons.  It is a constant back and forth of wondering if what Sonzee's current state is, could actually be made better by a "simple tweak" or if we are only going to make things worse.

It can be rationalized that whatever change that is being fabricated in your head is the better one.  It is so easy to do the "if we do this, this will definitely make a difference in a positive manner because what we are currently doing isn't working".  Sometimes you can find yourself so caught up in "Fix it mode" that you can't see that what you have is actually really great. Only after you implement the change do you realize that not all changes are for the best.  Changes can lead to an unexpected and unwanted negative cascade of events that leaves you thinking, "what did we just do?"  I am not one to regret a decision, but regardless of regret, it is still an awful feeling when you think "maybe it wasn't really broken...maybe we shouldn't have attempted to fix it".  I know that in our situation we will always find ourselves faced with these types of situations.  It will be a constant battle within ourselves to figure out the appropriate time to "jump ship" on whatever course of action we are dealing with.  But, it is always good to have a gentle reminder to "not go chasing waterfalls."

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It's a marathon...not a sprint

I am not a runner by any stretch of the imagination.  The only relationship I even have to the sport is through an old pair of Nike sneakers from high school and the Bumbleride twin-jogging stroller I purchased when we had our first two children.  It was on eBay and I just wanted a discounted stroller.  Running really is not my thing, but if I ever decide to participate in the sport, I am fairly certain I would prefer being a sprinter.  My personality is much more suited for being a sprinter opposed to being a marathon runner.  The finish line is closer, the goal seems more attainable, and the race itself is quick giving you immediate satisfaction and validation for your efforts.  Yes, I would much prefer to participate in sprints.

Sam has said from the beginning that dealing with CDKL5 and Sonzee is a marathon not a sprint.  He reminds me all the time of this statement.  I say the words aloud multiple times a week in hopes of them penetrating deep enough into my brain that I can change all my ways of thinking.  Yet, here I am trying to sprint my way through a marathon.  As I said previously, I am not a runner.  I do not know the first thing about marathon training.  I do know it requires a lot of preparation.  You cannot wake up the morning of the Boston Marathon and just decide to participate, I mean I suppose you could, but I can probably guarantee the outcome will not be desirable.  To run a marathon you need to have a lot of dedication, you need to have patience, strength, and endurance.  You have to be willing to spend months and years adding distance to your daily runs and putting up with all types of weather.  You cannot just become a marathon runner.

I have found that no matter how many times I remind myself that this is going to be a long haul type of event, I am still stuck in my “immediate fix it” type of ways.  This experience has been a HUGE test of my patience.  I have definitely made improvements in that department but wow do I have a long way to go.  I constantly want to do quick fixes for whatever discomfort Sonzee might be facing; unfortunately, there are no quick fixes.  There really are not even fixes.  Her seizures will come when they want, how they want, and in any form that they want.  Her body will get sick when it wants, how often it wants, and in whatever fashion it wants.  There are things I can do for her to provide comfort, but they seem to fall short in being permanent remedies. 

It has been exactly a year since I first stepped foot in the ER and said the words, “I am pretty sure my daughter is having seizures”.  I have now been in my training for 365 days.  I am definitely more knowledgeable than I was a year ago, but I do not have many more answers now to the same questions I have asked or wondered throughout the months.  These next couple of years are going to be difficult, I know this.  I am attempting to prepare myself, but I would much rather fast forward.  I keep saying, “Keep your eyes on the prize”, I do not even really know what that looks like.  I know it involves some semblance of seizure control, but really, I just want the bear to be happy.  I want her smile back and I want her cute little personality to shine through again.  I am having a tough time right now in this part of my training.  It feels like this is an insurmountable task, similar to if you ever asked me if I intended to climb Mt. Everest, Umm…No.

So, here I am in the midst of a marathon I was not prepared for and I am definitely more of a sprinter.

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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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A letter to those who call me an inspiration

When I think about people who embody the definition of the word inspiration, the names of Helen Keller, Ray Charles, Stevie Wonder, or others who have overcome substantial obstacles flash across.  I think about those who have made profound contributions to society, Bill Gates, Albert Einstein, or Steve Jobs.  I see the faces of those who have forged through roadblocks and were forced to defend himself or herself, Rosa Parks, Mahatma Gandhi, or Anne Frank.  I think about countless others who lay their lives on the line daily protecting our streets, our communities, our countries.  

I personally do not feel comfortable being placed amongst these prestigious ranks.  The people I have mentioned have made a profound impact on millions upon billions of people.  They have redefined industries and caused ripple effects that have lasted decades beyond their times, they are visionaries.  When I think of myself, the word that comes to the forefront of my mind is "mom".

I am a mom of four beautiful children, three who are typical, and one who has CDKL5, a genetic disorder that will leave her with a lifetime battling seizures and profound developmental delays.  I will make decisions on all of my children's behalves until they are old enough to weigh in.  I will be an advocate for all of my children no matter their cognitive abilities.  I will defend my children in all situations.  I will love each of my children unconditionally, not because I am an inspiration, but because I am a mom.

I am a mom who makes mistakes daily, but who tries her best each day.  I may have to make decisions that you will never have to in your lifetime, but that does not make me any more of an inspiration than you.  I am sure you are faced with decisions that I am not.  Yes, I am a mom who is faced with tough challenges, but I am not alone, there are others on parallel journeys, others on journeys more difficult than mine.  I am not special.  I am a mom who will go to the ends of the earth, just like you, because that is what a mom does.  

While I appreciate your kind sentiment and am flattered that you hold me to such high esteem, I would like to ask, "Why am I considered to be inspirational?"  Is it because I have to watch my child endure minutes of daily seizures?  Is it because I have not publicly cracked under the insurmountable pressures of raising a child with special needs?  Is it because I do not place blame for the situation I am faced with, G-d included?  

While your words of encouragement, praise, and support offer me much needed support during my darker days.  I would like you to know that I am no-more an inspiration than YOU, the mom of one or multiple children; YOU, the mom of a typical child, YOU the mom of a special needs child; YOU, the mom of a child who is no longer physically present.  It may appear that I am an inspiration, but I assure you, I am not doing anything differently than YOU would do if you found yourself in my shoes. 

I am just a mom.  

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Is it better?

There are constantly new kiddos being added to our CDKL5 family, it is a challenging feeling to describe when I see a welcome message posted into our Facebook group.  I am always "excited" to see if there are children around Sonzee's age, while at the same time I know all too well what accompanies the mixed bag of emotions these families are experiencing.  What I absolutely love about our support group, is that it really and truly is such a supportive network, made up of parents, family members, and close family friends of children diagnosed with a CDKL5 mutation.  

I do not take it for granted for one second how lucky we are to have a group to help us out at the beginning of our journey.  There are parents who have only recently learned of their child's diagnosis within the past 6 years; some of those children are in early childhood, while others are teenagers or in their 20's.  I am sure these parents wonder about what it would have been like for their child had they been given the advice and shared experiences they are giving to others.  If I am inspired by anyone, it would be the parents in this group who continue to give suggestions, insight, and support despite the fact that their child's outcome is not what they planned.  Despite the fact that they themselves were not afforded the same opportunity. 

As I mentioned I get "excited" when a child enters into the group who is around the same age as Sonzee.  However, this is also one of my biggest challenges as well.  Due to various ways children are impacted by CDKL5, no two children are the same, much like that of two typical children who do not have any mutations on their CDKL5 gene.  However, when a child is introduced around Sonzee's age, and she is able to do things Sonzee is unable to; it makes me a bit breathless.  I tend to feel a bit more defeated, more envious, and I ask the question, "well why is their child with CDKL5 able to do that and Sonzee can't".  

This week I have been thinking about seizure control and Sonzee's abilities.  Of course, it appears if we could just nip these darn beasts in the rear then her brain would have more of a chance to develop.  Obviously it is a no brainer that if she wasn't having multiple episodes a day resulting in her sleeping the day away and then taking an additional day to recover that she could be closer to typical development.  Unfortunately, we have yet to find our magic combination of anti-seizure medications to do the trick just yet.  Additionally, each drug comes with a ridiculously long list of side effects that do not quite assist her positively in the development department either.  Despite the potential seizure control, there is still the whole lack of a usable CDKL5 protein issue that she has to "deal" with.  It is not as if she will ever be a typical child, seizure freedom or not.  

For now Sonzee is completing her Sonzee-stones at a Sonzee the Snail type of pace, and (I tell myself hourly) this is okay.  Not really what I want, but it is what it is, and it is okay nonetheless.  What I find myself wondering; "Is it better to never have seizure control and therefore the gains she makes while slow and steady won't cause a rude awakening should they be taken away by a seizure?  Or would I rather her gain all of the "typical" skills and then spend every minute of my life in a panic that she'll have a breakthrough seizure and loose everything she spent so much time working to achieve?"  

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What if?

In the morning on the day we were about to learn of the cause of Sonya's seizures, my mother walked into my bedroom with her eye shadow case in one hand and the brush in the other.  She looked at me and said "You told me if you knew the cause of Sonya's seizures you would be fine, that you just needed to know what you were dealing with, right?" My reply, "Yes, I just need to know", and she said "Okay, then soon you will know".

The first two weeks after we found out were pretty grim over here.  Sam and I both handled the information in different ways, as two different people with different personalities and different upbringings tend to do.  Me...I am the type that once I learn of something, I make a plan, follow the plan, and move on...I don't sit around dwelling, and I don't try and change things.  For me...Sonya has a mutation on her CDKL5 gene, great we know this is why she is having seizures, now let's move on.  As for Sam...well he is a fixer.  I think a lot of guys can relate to that.

So here we are...two people dealing with the same obstacle in different ways.  Neither one of us in my opinion is "right" or "wrong" for how we are handling things.  I personally find it "therapeutic" to spend my time diving into therapies and working on making Sonya reach her fullest potential.  I find each session to be rewarding in its own way, and I find that it makes me feel like I am actually doing something.  I cannot control the situation, this I know...I won't even begin to fool myself into thinking I can, so providing opportunities for Sonya to flourish is my perogative.  Sam finds it therapeutic to research countless articles, speak with parents of other kiddos with CDKL5 mutations, find out what drug trials are around if any.  He continues to see if he will be the one who can find a possible might be SOLUTION.

Yesterday Sam and I began our typical evening discussion of all things CDKL5.  We were talking about how Sam trying to find cures is great but in my opinion I like to work on the here and now...the current situation, not to the "dreamland".  He wants to focus on the future because what if there is a cure, what if he is a necessary component, a vital piece of the puzzle in solving CDKL5 and that is why Sonya was diagnosed.  So we continued our discussion and it led to the following.

"Nothing in life comes risk free.  Hypothetically speaking...a cure is found for CDKL5 and with this cure Sonya will have an increased QUALITY of life far better than anything she will have with all the therapies in the world but we are told, "Sonya will be cured but the side effect of the drug is that it decreases her lifespan....

IS IT WORTH IT?  WOULD YOU DO IT?"