2015

In approximately 13 hours we will be saying goodbye to 2015 and welcoming in 2016.  Truth be told, I am no sadder to see 2015 leave then I was for all the years before.  Yes, it has been a year filled with the most shedding of tears, but it has also been a year filled with laughter, joy, and hope.  It was the year our oldest daughter turned five, entered Kindergarten, and lost her first tooth.  It was the year that my mother lived to celebrate her 60th birthday (which is a huge accomplishment for a woman in our family).  It was the year my sister, her husband, and my adorable nephew moved only four houses down from us.  It was the year our son turned four, began ice-skating, and started to lose his baby face.  It was the year our middle daughter turned two and shared her amazingly cute personality with so many people.  It was also the same year where the best and worst came together in one tiny 6lb 6oz package just 2 weeks shy of her due date.

2015 was a year of learning.  It was the year I learned about a rare genetic condition, CDKL5, a condition that impacts approximately 1200 identified people in the world.  A condition that has now consumed more of my life than I could ever imagine five characters tied together could do, more than I would like.  It was the year I learned that I am emotionally, physically, and mentally stronger than I would have ever given myself credit for.  It was the year I learned that sometimes bad things happen simply "just because".  It was also the year I realized that even the most well versed medical professionals do not have all the answers.  

2015 was a year I was challenged in every possible way imaginable.  I faced hurdles I never could have fathomed I would be faced with, ever, during my lifetime.  I have been placed into situations no parent should ever have to endure.  I have been asked questions that have no answers.  I have had to make choices that again, no parent should ever have to.  These challenges continue to mold me into a different person.  These challenges have given me new perspectives, new direction, and new strength.  I continue to learn more about myself with each new challenge that I face.

2015 has been a year of change.  Our family of six will not ever be the same.  We will not ever just be a typical family of six.  2015 has forever changed our title to one of, "a family with special needs".  While we say goodbye to 2015, it will be a year we will not ever forget.  It will be the year that forever changed me, changed Sam's and my parenting, and change us as a familial unit.  For that, I am thankful.  2015, just like 2013 and 2014, has been another year of preparation for the years ahead.  Just as we were blissfully unaware of what was in store for us in 2015, we will have many years to come that will be filled with the same uncertainty and unknown obstacles.  We will welcome 2016 unbroken, un-phased, and ready for whatever battles lay ahead.

So thank you 2015, and to 2016, BRING IT!

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New Normal

The clock ticks and I watch the second hand as it makes its way around.  It is after midnight and I am wide-awake listening and watching her breathe.  I cannot remember the last time I slept more than an hour or two straight without jumping straight up in sheer panic.

Having a child with a seizure disorder will impact you in ways you never knew were possible.  That startle you experience when you hear your baby cry out, or any baby for that matter, because it reeks of the sounds your child makes at the beginning of her seizure episode.  The fear you carry with you daily, like a heavy weight, just waiting and wondering when the next seizure will take place.  It is awful.  It is scary.  It is my life.

I do not remember how things were prior to Sonzee, but I know things have changed.  I have lost the ability to differentiate between what is "typical" for any baby, and what is specific to having a child with special needs.  I know I used to sit and watch my oldest while she slept to make sure she was breathing.  I still periodically pop into each of my kids rooms when they sleep to ensure they are covered and breathing.  That is no different.  I do not remember how my other kids woke up from naps.  I know I did not sit and wait with baited breath wondering if it would be accompanied with shrieks, limb extensions, holding breath, and a red face.  

It is odd the things you become accustomed to when you encounter a new normal.  The shrieks, red face, limb extension, and breath holding are what I now expect.  When Sonzee wakes up by simply opening her eyes and looking to the side, I still panic for a second wondering if this will be a new type of seizure.  When she smiles or makes a giggle sound, my first thought is she is having reflux, my second a seizure, and then after all the other CDKL5 norms are eliminated do I then relax and realize she is just expressing herself.  Similar to a soldier on the battlefield, the scars from the previous events remain fresh and raw permeating into every subsequent action, thought, experience.  I am guessing this is just another bump in the road, another concept I will have to learn to wrap my head around, another new normal I will have to add to my long list of things I need to accept.

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Focus

In my opinion, one of the most challenging parts of being a mom is having the will power to not compare your child to another same aged peer.  It takes great skill to be comfortable with "accepting" your child the way he/she is.  To truly be okay with his/her strengths and weaknesses.  I think it is just one of those traits that is innate.  We want to be the best at everything we do, and so we want the same for our children.  I personally do not think it is wrong to want that, but I can say 100% that it makes things more difficult.

I personally was not the best at every activity I participated in as a child, so maybe that is why I wish my kids were.  For my three typically developing kiddos, whatever activity they are in, I just want them to do their best.  I do not feel like I have to defend their abilities.  In some activities they are better than their peers, but in others, they are not.  As long as they have fun and they try their best (at least when it matters), I am all-good.  I am always proud of them for what efforts they put forth.

Then there is the Sonzee.  There is always a difference in my mind when it comes to the Sonzee.  I know she tries her best, I know she works as hard as her little body can sans a complete (functional) CDKL5 gene; yet I always want more from her.  I can honestly say that I do not look at her same aged peers and feel sad about her development when compared to them.  After all, they have an entire gene that is usable.  That would be equivalent to comparing apples and oranges.  I smile when I see other children her age on my newsfeed who are taking their first steps, I know one day that will be Sonze, just not right now.  What I have the most challenging time doing is reading about what other kiddos her age with CDKL5 mutations are doing.

I know all children are different.  I know even within the disorder comparing two children would be similar to me comparing my other children to each other or their peers.  However, I cannot help but feel saddened and envious when viewing pictures of her CDKL5 sisters sitting, or working on crawling.  There is no solid research regarding mutations themselves and skill-sets children should be able to achieve.  I do know children with seizure control fare better than those who do not.  I know those who have deletions or insertions as their mutations have different outcomes than those with a frameshift like Sonzee.  There is also the whole mystery behind X-Inactivation (whether the healthy CDKL5 gene or mutated gene on either of the X chromosomes is being used in the body for a specific function).  I know children who have their mutation on the tail end of the gene have outcomes that are more “promising” as well.  

Even knowing that she will gain skills at a slower pace still has me saddened to see pictures of children with CDKL5 mutations her age performing skills now.  I wish so much that for her first birthday she will be able to sit alone, by herself, with no support.  I can pray and I can work with her all day long, but the reality is, those things still may not be good enough.  She has limitations, what they are exactly I do not know, but I know they are there.  

Hope and reality are two delicately woven strings intertwined that keep me dreaming yet grounded.  I wish I knew how to channel my vision, to focus, and be able to ignore the background distractions.  I wish I did not feel a tinge of jealousy when I read about the skills fellow CDKL5 siblings have mastered.  I am so elated for their parents, and for them, yet wish I could experience it myself.  I remind myself all the time that there are others who have children who aren't as fortunate as Sonzee, who I am sure feel the same way towards me (I don't judge you, you're allowed). 

It just plain sucks to want your child to be among the best when it is just not the case.      

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Reboot

Once a week or so my computer has a pop up that tells me it's time to restart my computer.  I usually press ignore the first 20 times it shows up.  The hours and days following the initial message, a pop up reminder randomly appears on my screen with the option to "remind me later" or to restart the computer.  I continuously hit the reminder button, until eventually my computer does not give me a choice and it automatically restarts itself.

These days I've been feeling all sorts of emotions.  Fear, anxiety, sadness, and sporadic bursts of happiness thrown into the mix.  Thoughts run wild in my mind and I am constantly reminded that I need to take time for myself, that my system needs to be refreshed.  I am constantly ignoring the pop up telling me I need to slow down, to take a break, to try and distress.

As we started Sonzee's first wean from a medication I have been thinking about reboots.  Every time she has a seizure I second guess our decision to wean, even though I know seizures are an ironic side effect of the wean.  The seizures may not even be related to the drugs efficacy, just a side effect.  We increased her cbd oil a couple of weeks ago prior to her wean and an increase of seizures can be related to that as well.  She isn't experiencing any more seizures than she normally does, I just wish they would stop.  It's so disheartening when I read about other kiddos with CDKL5 who have seizure control, why not Sonze? 

Eventually whether I like to or not, I am forced to take a much needed break.  We are currently on a little family vacation, complete with Disney princesses and a cabin in the snow.  What better way to get a reprieve and take some much needed time to just enjoy time as a family and be driven crazy by normal family of 6 experiences.  It is so nice to have a chance to get a break.

 At the same time, it's hard to fully enjoy my much needed start over when I think about Sonzee.  She has had at least one seizure a day during this vacation.  Her little body needs a break, a refresh to her system, a simple reboot.  I wish she would be afforded the same automatic shutdown and system reset, complete with a vacation from these awful seizures.

Balance

If anyone ever asked me to walk a tight rope regardless of the distance above the ground I would most certainly fall to floor hysterically laughing.  It ranks up there for me the same as walking across a balance beam which isn't exactly my strong suit either.  To walk a tight rope or a balance beam you need to be in top physical shape, you need to be able to delicately balance deep concentration with not overthinking your every step while simultaneously trusting your body's every move, all the while having your mind completely clear of any possible distractions.  I guess I should be laughing out loud right now, because lately it feels like walking a tight rope is exactly what I am doing.

It is downright difficult to find the right balance between life in general and all things Sonya/CDKL5.  Every day I find myself walking across the thinnest wire.  A constant battle to remain balanced on the most narrow of paths.  Keeping track of medications, appointments, activities, meals, my list could of course continue, but you all know.  You all have your own lives with your personal tight ropes to master.  The problem is that I am not so steady with my steps nor am I confident in the way my body is moving.  It's quite the balancing act trying to maintain my sanity while dealing with a child who has medical and physical difficulties, and who is the youngest of four children.

I am by no means perfect and I don't even pretend to try to be.  Not only would that serve no purpose, but it for sure would be more difficult to pretend.  I am not going to make excuses for myself regarding what I choose to make priorities.  I have learned over the past 10 months that I can only focus my energy on a small list of "to dos" a day, and personally I am okay with that.  I understand my limitations and I have even recently learned to not feel guilty for what I have chosen to move off my limited list (pat on the back to me).

In speaking with others who have been in similar situations as mine I know a lot of their heads would be nodding in agreement that I am doing what I need to do in order to function, and that what I am doing is enough.  My mind is constantly in a fog over decisions regarding Sonzee.  I anxiously wait for each seizure to come, my mind never at rest.  I sit straight up in the middle of the night in panic with fear that I have missed a dosage of her medication, missed a seizure, or feeling to make sure she is breathing.  I am constantly wondering and doubting if we are making the best decisions regarding her medications, weans of medications and dosages.  I feel guilty that she hasn't gained weight since she is primarily breastfed and wonder if maybe breastfeeding isn't the best choice.  Am I the reason why my 14 pound 10 month old is a failure to thrive??  I am pulled in 3 other directions by my highly energetic (thank G-d) older children.  The long list of worry and doubts of what I am doing with each of them haunt me daily.  Has being so entrenched in Sonzee and CDKL5 taken away from their childhoods?  Am I failing them? 

 I am not looking for sympathy or any "poor Randi" statements.  I just ask for a little empathy.  I have never been the best at sending cards on birthdays, or making phone calls.  I will do my best to celebrate occasions if I am reminded, but I am lucky I remember the dates of Sam's and our children's affairs and then remember to actually celebrate the day when it arrives.  To those offended by my out in the clouds demeanor, I am sorry, but at the same time I am not.  I am doing the best I can and right now where I stand, I am one small move from losing my balance and falling off the rope.

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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Blame

I am a "reasons" person.  I like to know "the why".  I like to be able to give credit where credit is due.  Unfortunately, in many situations there is not always one specific clear-cut answer to answer "why".  Sometimes things are the way they are just because.  I personally find this completely unsatisfactory, I suppose that places me among the ranks of most two year olds; well, at least mine.

About 6 months ago we were told to increase Sonzee's medications.  When a doctor tells you to increase medications because it will help your child stop having seizures part of you believes them and the other part knows this will not help.  In this specific instance, both Sam and I myself were against the increase.  For those of you on a medical journey of your own I bet you can attest to the fact that even though you may voice your disagreement, it can fall on deaf ears.  Call it what you will, but there is a sense of fear in the system you are supposed to trust.  If you do not do as you are told at any moment your parenting can be called into question, and I am not talking about from other parents.  There is always a shadow looming over you that if you don't do what you are told, then you do not have your child's best interest at heart, and then boom your child and his/her siblings could be taken away.  So as you can guess we obliged.

We decided to slowly increase one of her medications in baby steps.  We had a follow up appointment about 3 weeks after the initial discussion and we told our doctor that we had slowly increased one of the medications, but we had not increased the other, as we must have misunderstood the directions.  We left the appointment with directions to increase the medication.  So, we did.

A week after that appointment I emailed our neurologist at the time and told her as nicely as I could that we were going to decrease one of her medications as the side effects were outweighing any possible benefit that we still were waiting to see.  She agreed with what I had written and we began to lower the medication.  We switched to an epilepsy specialist at the time and were given the green light to begin giving her CBD oil.  Due to this decision, we were to hold off on weaning or playing with any of her medications.  

Since we have increased her medication she has not grown.  Not her head circumference, nor her weight, nor her length has changed at all in the positive directions.  She has been tired and cranky and her muscle tone has gotten weaker.  We have tried everything to get her to gain weight.  She has her own nutritionist to help us with her solids and I have done what I can to produce the best breast-milk, yet it has not seemed to make a difference.  Our baby now has "Failure To Thrive" written next to her long list of already sad diagnoses.  Our decision now is Gtube or NGtube.  When I try to place the blame of course it falls to the medication.  It is easy to blame the medication when I paint the picture in the manner I just did.  But, is it really the medication?  Am I really being impartial and unbiased?  Or am I am simply trying to point the finger to try to make sense of a situation I have yet to make sense of myself?

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Grieving a child who is living

My child is alive yet I grieve my loss over her every day.  How awful others must think of me if they have actually lost their child to this world in both the physical and spiritual sense.  I am sure I come across ungrateful because I can actually hold my beautiful blue-eyed baby girl in my arms.  I am extremely fortunate that I am able to kiss her soft pink cheeks and cuddle her close to smell her hair.  To be honest I find myself embarrassed that I am even admitting I have these feelings, but they are the truth.

10 months ago we welcomed our fourth child into this world.  For the first 20 minutes of her life, she was seemingly perfect and healthy.  All too soon, our world came crashing down when she presented with difficulty breathing.  Four short weeks later she was diagnosed with epilepsy, and was having on average seven seizures a day despite being placed on medication.  Eight weeks after she entered the world we learned the cause of her seizures was due to a genetic mutation on her CDKL5 gene.  Now, 8 months later, I continue to mourn the loss of my perfectly alive baby girl.

What I wish others would understand is that the grief others may have over their child with disabilities is painful and it is real.  Our grief is not to be compared to that of grief over a child who is no longer present on this earth.  It should not be dismissed or diminished simply because our child can be held, cuddled, kissed, and loved on physically.  Grieving our child who is alive is sporadic, and while our children bring us joy and happiness, those feelings can be overshadowed by what is not present.  Experiencing grief does not mean we do not love our child with disabilities.  

On occasion my mind drifts to the future, and I often wonder what it will be like when she is my oldest daughter's age.  Will she be able to walk or communicate verbally?  Will she able to sit or crawl?  Will she look me in the face and smile?  Will she be excited over the anticipation of losing her first tooth?  These thoughts are what open the doorway to my grief.  The realities of what the future holds and what the past has failed to bring.  These feelings of grief sneak up on me like a thief in the night.

What I wish others would understand about the grief parents of a child with a disability might experience is that we wish we could shake off our feelings and move on with our lives.  We wish that after time passes it will get easier and we will learn to accept the hand of cards we were dealt.  Maybe that does happen in time...for me, it hasn't happened yet.  I wish people would understand there is no one correct way to handle this type of situation nor is there is one correct way to grieve.  

What I wish others would understand the most is that grieving over our child who has a disability is not going to go away.  As our child continues to grow up, he or she will not be accomplishing the same things as his/her same age peers.  Each birthday that passes will be a reflection of another year that was counted by the mastery of inch stones as well as physical and emotional setbacks.  Each day that goes by will be another day we are presented with a reminder of the things our child may not be able to do.  As time goes by, we are faced with the harsh reality that our child will not complete the dreams we spent 9 months creating while awaiting their arrival, and for that alone, we grieve.

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10 Months

Today Sonzee turns 10 months old.  It is a bag of mixed emotions that really began last month and I fear will only continue.  When I tell people she is 10 months old, the typical reply is "Oh my gosh, I can't believe how big she has gotten", I can totally agree with this statement.  Ironically she is behind compared to her same aged peers, but show me a child of mine who isn't.

Today our baby girl turns 10 months old.  The goody bag of emotions that she has brought to our family has a lot of positives.  When she smiles, it is one that brightens the room and makes you smile right back.  She has given me that purpose I have been searching for, because I absolutely love to write and she has given me the chance.  She has taught us about strength and perseverance.  The amount of work she does to simply hold her head up is admirable to say the least.

She continues to teach me patience in every sense of the word.  That continues to be a daily challenge for me, but I thank her nonetheless.  She has made our family stronger and has brought smiles and love to everyone.

While I do not have a long list of all her physical and developmental accomplishments to list, she continues to flourish in different ways and that should not be overlooked.  Instead of looking at what she can't do on her 10 month birthday, I am going to focus my energy today on all that she can.  She can roll, she can hold her head up, she can sit supported, she can hold an object for 2-3 seconds, her eye contact has improved tremendously and she can fixate her eyes for close to 20 seconds.  She loves to be fed food, and loves pureed asparagas as well as spinach and cheddar puffs.  She can drink from a bottle and loves to snuggle.

Happy 10 months Sonzee Bear!!

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Sometimes

On a busy week when Sonzee has movement lessons multiple times, I can spend upwards of 3-4 hours in the car a day.  It equals approximately 150 miles of driving and 2.5 times of "Frozen" for Sonzee's older sister.  She would watch it every day if I let her, but I save the movie viewing for our crazier/longer distance days.  For 1.5 times that the movie is playing everyone is asleep and so I am left to sing and act out the scenes all alone.  

My favorite character hands down is Olaf.  I absolutely love everything about him.  To start, what a great personality this little ball of snow has.  No matter how many times I listen to him, I always chuckle with his words (I know that is more credit to the writer, but stay with me here).  He is such a happy snowman and a genuinely grateful character.  He has great character attributes such as resilience, persistence, humor, and friendliness.  I think what resonates with me the most about him is how much he fantasizes and wishes to be part of something that he has never experienced, yet can only imagine in his dreams what that reality would be

As I sit in the car last night at a family Chanukah event because Sonzee was finally waking up from a seizure she experienced 3 and half hours prior, and she wanted to eat, my mind drifted off to thinking about Olaf.  "Sometimes I like to close my eyes and imagine what it would be like" to be a family of six celebrating the 3rd night of Chanukah at the city menorah lighting.  How I would be grinning from ear to ear watching all four of my children running around and stuffing their faces with candy while Sonzee tries to crawl around the cold cement ground.  How the kids would be running over to me to make sure I was seeing whatever shenanigans they were getting themselves into.  How happy we all would be together.  I am sure there would be a fight or two, and Sam and I would have to threaten to leave the event.  For a moment I can almost imagine what it would be like if Sonzee did not have a mutation on her CDKL5 gene.

POP!  My fantasyland journey is snapped back into reality as I watch every family scramble to their cars to start the parade of cars.  I am putting Sonzee back into her car seat and my son tugs on my leg.  Then as usual, I take a picture of my husband with my three oldest kids, realizing how sad it is that they have gotten so used to me missing all of the events.  Then I attempt to embrace my inner Olaf and I take a big breathe in, sigh, and continue with my winter as I dream about the unknown summer. 

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Unsure

As a parent I am always struggling between honoring my child's feelings as well as doing what I feel is best for them.  I am pretty certain a lot of other mom's and dads feel the same.  For example, it happens to be neither healthy nor appropriate to go outside in 40-degree weather without a jacket and wearing "fip fops", despite the fact that my two year old would disagree.  My son would love to stay home from school every day and jump around constantly eating candy, yet that is definitely unhealthy and would not be beneficial socially or educationally.  My oldest would enjoy staying up late playing with her dolls in her bed or looking at books, but I have to tell her she needs to go to sleep or else in the morning we will all suffer.  Then there is the Sonze, she who would love to sit in her bouncer and suck her thumb all day yet I want her to work on her developmental skills and I cannot for the life of me figure out which is the most beneficial option for her.

We have been told that kids with CDKL5 have severe to profound developmental delays.  In reality, as hopeful as I am for Sonzee, despite the amount of time she spends working on her skills; she will always have a delay.  It is truthfully a more severe delay than I am currently able to accept at this point.  I think more severe than any of us parents with kiddos with this and similar diagnoses can ever accept.  For me, this is where I face my conundrum.  If Sonzee is not ever going to be as typical as I would have once thought she would be, and she is perfectly happy sitting in her chair, taking in the sights and sounds, do I take away her clear joy?  Do I make her spend her time doing things that might help her?  Am I actually giving her the best by making her do what I want for her?  Am I being fair?

We know there are children with CDKL5 who can learn to do basic skills.  These skills are typically attained after that of typically developing children.  In my conversations with other parents there is such a wide spectrum of ages that children can learn to perform skills, it is hard to pinpoint where, and if at all, Sonzee will fall on the scale.  There are children who can sit, crawl, walk, and sign/communicate a few words verbally.  There are also children who do not do any of the above-mentioned skills.  Not knowing what Sonzee will do makes this all the more difficult.  It is so hard for me to take the 5-10 minutes she is finally awake and happy and make her work on skills that she is so uncomfortable and angry working on.  I tell myself it is what is best for her in the long run, but is it?  Is making her miserable during what could be her only enjoyable time during the day really worth it?  Am I just ruining what happy time she could be experiencing for my hope, or is she ever going to look at me and "say" thank you?  

I know that my two year old might be upset at me for making her put on socks, shoes, and a jacket, but she will get over it, and when she is older, she will agree that not wearing flip flops and short sleeves during the winter were for the best.  I know my son will thank me when he graduates from college for making him go to school.  I know my oldest will be happy when she wakes up on time in the morning and gets to school on time without tears.  What I don't know is will Sonzee be more thankful for me letting her enjoy her simple pleasure of sitting in her bouncer sucking her thumb or for me making her work her little tushy off?   

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Chai Lifeline

Throughout our journey many people have offered us valuable advice.  Multiple people told me to get in contact with an organization called Chai Lifeline.  It is a Jewish organization that guides itself by understanding that when a family member is diagnosed with a terminal or serious illness, the child as well as the entire family "needs and deserves as happy and normal a childhood as possible".

I have to admit that when the first person told me about the organization my initial thoughts were, "Why would we need to be part of such an organization?  How is Sonzee having epilepsy similar to a child who has cancer?  I do not want to take away resources from other families who would actually benefit more from the services this organization provides.  Sonzee is going to be just fine.  We will be fine.  Neither I nor we as a family need any help.  Even if I do need help, I am not ready to accept that just yet."  

The night I went to the ER with Sonzee because I thought she had a seizure; I did not even pack a hospital bag.  To this day, I can honestly tell you I have no idea what I thought was going to happen when I told the hospital staff my one month had what I thought was now her second seizure and then proceeded to hand them the video evidence.  I remember feeling as though this was not real, this could not be happening.  We only told family and a few friends we were even at the hospital.  When she was diagnosed with seizure disorder, it started to dawn on me that this was something we would have to share with others.  However, I honestly did not think at the time we needed any special assistance.

After we received the official CDKL5 diagnosis, again more people told me to reach out to Chai Lifeline.  It was only after a person I did not know commented on a blog post that I seriously entertained the idea of reaching out to the organization.  I finally called the phone number provided on the website for the west coast office.  I remember how awkward I felt as I gave my brief introduction and told them a little about Sonya.  Each person I spoke with was so attentive and helpful by simply listening.  I remember when I told the director that I honestly did not know what my purpose for calling was, but that so many people told me I should.  We agreed during the call that it would be okay for her to hand our file over to a case manager, and she told me I would be contacted shortly.

I have spoken with our case manager a handful of times.  She understands when I do not answer the phone, when it takes me a week or so to call or text her back, and when it takes 3 weeks for me to email her.  She is beyond amazing when I think of how hard I have made her work to get a hold of me.  I would assume that is what makes social workers amazing people as they just get it.

During one of our phone conversations, the term "Chanukah Angels" came up.  Until yesterday I did not have a complete understanding of what exactly those words represented.  She explained that "Chanukah Angels" is essentially a program designed to take the stress away from parents who are dealing with their children's health issues by not having to think about gifts for their kids, and to make sure siblings would have a fantastic Chanukah despite whatever craziness is occurring in their lives.  I thought the concept was nice, so I agreed to be part of it.  Fast forward to yesterday morning when the doorbell rang and a young man was at the door who said he was a volunteer from Chai Lifeline.  He said he had gifts to deliver from the Chanukah Angels and I looked down by his feet to see large paper bags.  My jaw dropped at the amount of bags I saw.  

Immediately the tears came (shocking, I know).  I am still processing all of this, and am in sheer disbelief.  I cannot even properly express my gratitude.  It is not even about the gifts specifically.  It is about all of those who took the time to make sure ALL of our children will feel special.  It is about the smiles on my oldest kids’ faces when they saw the presents sitting on the counter when they got home from school.  It is about realizing that maybe I do need more assistance than I ever imagined I would.  I can admit that concept is not easy an easy one to acknowledge or to accept but it is OKAY.  I can also admit without these Angels, there would not be this many presents in our home.

Since I have been an adult I have tried to keep the essence of Chanukah based more around tradition than the physical gifts.  I am always afraid of our children growing up to feel entitled and spoiled, so I prefer to limit items that are not educational or "serve a purpose".  The Hebrew word for Angel is "Malach", which actually means "messenger".  There is some thought that a few angels have the job of taking our prayers and giving them directly to G-d.  This is one of those weeks where I feel Sonzee has been sent to us as one of G-ds personal angels, her purpose to take us back to the basics.  To help make sure Sam and I have our priorities straight.  To make sure we are paying attention to each of our children's needs.  To make sure we are appreciating the simple things in life.  

Yes there are gifts are on my counter that probably Sam nor I would have purchased for our children, simply because "they would be a waste of money", or "because they are unnecessary".  I will go out on a limb by including Sam in a "we statement", by saying, we both never considered the smiles or sheer joy that these gifts would bring to our children.  We just did not look at physical gifts in this type of manner.

When I look at my counter, I do not see just simple material gifts.  What I see are packages that were handpicked, wrapped, and sent to us by people who truly want to make each of our children feel special.  What I see are my prayers to make my other children feel included, feel loved, and not feel forgotten heard.  I am so excited to see what each of these gifts are and to see the joy they are sure to bring each of our children as they open them and use them.  I have never been more excited in my life for the first night of Chanukah, and that is all thanks to Sonzee who has brought us these amazing Chanukah Angels.

Thank you Chai Lifeline.  It is difficult to put into words my gratitude, but please know you have successfully completed your mission.

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"It's just a charger"

Over the past 8 months or so I have come to expect that I will continuously cycle through the stages grief.  I am certainly not comparing my experience to that of a physical loss of a child, but there is a definite loss of the child I "anticipated" Sonzee would be before, during, and shortly after my pregnancy.  This entire experience has given me (and probably Sam) a new meaning of female hormones.  This roller coaster ride certainly lives up to its name, that is for sure.  One minute I am happy, in a complete euphoria, only for it to be followed 5 seconds later by a tantrum or an all-out cry fest over something completely trivial.  

On Tuesday morning, I got up earlier than usual and had such a productive morning.  I threw in a load of laundry, attempted to unpack from our trip, packed lunches for school, set up breakfast for the older kids, got myself ready in record time, got Sonzee's older sister ready for dance, and packed all of the items we would need for our day with time to spare.  I ended up having to wake up the Sonze as she was sleeping off a middle of the night seizure and of course she was not having it, so we ended up having to squeeze in a mid-morning boob before running out the door.  Pleased with myself for remaining on schedule, I headed to Starbucks so I could pick up my morning coffee to enjoy while watching my middle daughter dance.

Following dance, with two lollipops in hand, Sonzee's sister was happy to tag along with us to a second opinion optometrist appointment for Sonya.  I had cancelled this appointment about 6 weeks ago, and then had doubts that maybe we would be missing another valuable opinion regarding her eyesight, so I rescheduled it.  Needless to say I won't be second guessing myself in this department again.  I tried to put a positive spin on what I felt ended up being a waste of time and money, by saying that at least it has given me 200% confidence in our amazing ophthalmologist, and I really should consider getting an honorary certificate in vision education.

With time to spare before heading to Movement Lesson I decided it was time for me to buy a new iPhone charger as my phone has stopped responding to the knock off chargers (yes I know, I am the only person that this seems to happen to), and so the girls and I headed to the Apple store.  After circling the shopping center for about 30 minutes, I found a great spot.  Sonzee was taking a nap, and I loaded both girls into the stroller.  The first store we headed to was of course the Apple store so I would not forget the intent of this pit stop.  I found the charger and it just so happened to be next to an iPhone holder that I could attach to the air vent in my car, so I figured I would buy myself a Hanukkah present from Sam ("you're welcome hubby").  I paid for the items and then we walked a little bit outside.  I came across a yogurt place which happened to be kosher (I know jackpot!) so I got Sonzee's older sister and I a yummy treat.  We sat outside and ate until it was time to head over to Sun City.  

We got back to the car, I loaded both girls in, went to my bag where I placed the charger and of course, it was not in the bag.  The vent holder item was there but no charger.  Commence anger and tears.  I glanced back along my path and it was nowhere to be seen.  I pulled out and drove around the area, retracing my steps and nope, no charger around.  I was so upset.  I called Apple, and they opened a case for me and told me to go back to the store and they would see what they could do.  Of course I had no time to accomplish that task before Movement, so we continued on our way.  By the time I got to her movement lesson I was ready for an all-out cry session.  As I walked up to the building, I was talking to Sam on the phone and he said, "You know Randi, it is just a charger".  Yes, I agree it is merely an overpriced accessory, but what is represents is so much more. 

This dumb plastic iPhone charger is how I feel about life.  I have ZERO control about anything and everything, CDKL5 related or not, but especially in regards to Sonzee.  Everything these days I feel is spiraling out of control.  I can only compare it to two things.  The way Alice in Wonderland falls down the rabbit hole and the quote: 

Relationships of all kinds are like grains of sand.  Held loosely with an open hand, the sand remains where it is.  The minute you close your hand and squeeze tightly to hold on, the sand trickles through your fingers.  You may hold onto some of it, but most will be spilled.  A relationship is like that.  Held loosely with respect and freedom for the other person it is likely to remain intact.  But hold too tightly, too possessively, and the relationship slips away and is lost.

I feel in a sense I am trying too hard to hold onto what I anticipated for Sonzee before she was born.  I am trying to make her do the things every other typical 9-month-old does.  I still find myself wishing and hoping for her to wake up and just be a typical little girl.  I can honestly say I am holding on way too tightly to my desires for normalcy, and in doing so I am not respecting Sonzee with CDKL5.  From my current position I do not know if I will ever be able to fully wrap my brain around what G-d has envisioned for my little bear.  However, maybe if I open my hands a little I will not feel so suffocated.  Maybe if I try to embrace who she is destined to be, whether it means she will need a feeding tube, a wheelchair, or a communication device I will find some peace.  Maybe if I start to truly accept the reality of our situation, I will actually agree that it is "just a charger".

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Being Thankful

Life is constantly a balance between yin and yang; day and night, light and heavy, up and down for example.  Neither can really exist without the presence of the other.  As I scrolled through my Facebook feed over the past 24-48 hours reading status after status about what my friends are thankful for, I was thinking about what mine should say.  In all honesty while I am thankful for so many things, my thoughts are clouded by my desires for things I cannot control, and you guessed it, related to all things Sonya and CDKL5.

I wish I could say that "I am thankful I have four 100% healthy children, that I love how Sonzee and her older sister have the same bond that our oldest two children have (I was so looking forward to our 2nd daughter having her sidekick), that Sonzee is learning to crawl and can sit like a champ, that I am planning her first birthday party with excitement and can hardly wait to see if she reacts like her siblings when she sees her cake, and that our traveling was actually a challenge because entertaining a 9.5-month-old is so difficult."  These are simply a snapshot of what I WISH I could have written; part of the long list of things I want.  If I focus on those items it is easy to forget all of the things I do have.

It goes without saying that I am thankful for great friends and my family.  I am so extremely thankful for Sonya's medical team and all the medical interventions that have been provided to her.  I am thankful for our online CDKL5 support group where I have become instant friends with so many on a level that others will never fully comprehend.  I am thankful for the support shown to our family as we continue on this lifelong journey.  I am thankful for ALL of my children, and especially the bond our 3 older ones share.  I am thankful for how each of our older children the Sonzee bear with such love and care, and while they know she is different and wish she was not, they still interact with her as if she was typical.  I am thankful for Sam, all he puts up with, and all he provides for our family.  My list could definitely continue, but I will spare you all.

What I have realized over this Thanksgiving holiday is that in order for something to be complete, it needs to be composed of both a negative and a positive so a balance can be achieved and maintained. Our journey may not always be what we intended for ourselves, but it is what was provided to us so that we in turn can become balanced, whole, and complete.  This year especially I am thankful for my list of desires because it makes me beyond thankful for the things I actually have.

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The hard stuff

I knew from the very beginning that this "journey" was going to more of an emotional, physical, scary, and crazy, you name it roller coaster ride, yet I still do not feel that I was adequately prepared.  I can safely say 8 months in and no amount or specific type of pep talk could prepare me for everything I am experiencing emotionally.  It is a bit difficult for me to accurately articulate all the thoughts that are going on inside my mind.  To give you a visual image, it would be equivalent to a ping-pong match.  

The last couple of weeks I have found myself fearful of what I do not know lies ahead.  Seizures aside because sadly those do not scare me, or maybe it is more that I am just numb to them already.  I am fearful of what lies ahead for Sonzee in the developmental department.  There are no videos, no pictures, no other Sonzee's before us that tell me "this is the exact road that Sonya will be following".  Everyone is quick to tell me that I should not worry, that I should relax, that I should take it one day at a time, but be honest, if Sonzee was your child, would you listen and follow that advice?  I get it, the worrying does not do anything for me, but right now it is really the only thing I can do.  

When I take Sonzee out in public, the main comments I am told are "she is so pretty" and "look at the little baby".  It is still difficult for a stranger to notice she is different with just a 2-3 second glance.  In an ironic twist, I am thankful she is on the smaller side for her age.  It only would cause someone to think twice if they ask me how old she is and they happen to know a thing or two about typical baby development.  I get the most nervous when I tell someone her age because it is obvious at that point she is behind the curve.  In the same breath I want to go into automatic momma bear defense mode and tell them her story, but that would be more than they bargained for.

I realize as the days continue to pass we are getting closer and closer to her first birthday.  While on one hand I am happy to celebrate how far she will have come, I am honestly dreading it.  There will not be a smiling little girl excited to play with her toys or the bags and boxes they are packaged in.  She most likely will not be crawling through a smash cake making a trail of chocolate as she moves.  She will be dependent on me and others to pick her up, move her around, feed her, and perform every other life skill that has been done for her since she was born.  It is definitely not how I envisioned I would celebrate a child's first birthday.

As time continues to speed by, my baby girl is growing up, but I am fearful she will always be my baby.

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Hindsight

Over the weekend, close family friends of ours called to let us know that they were sure their daughter was going to be born sometime during the middle of the night and Plan A for who would be watching their son was not answering the phone.  We invited them to come labor at our house and if they needed to leave their son, it would be our pleasure to watch him.  Their prediction was correct and shortly after they arrived, they left our house, and I received a text that the baby was born.

Immediately I was transported back to 9 months and 11 days ago.  My friend’s labor mimicked Sonzee's so much it has given me chills.  How quickly it started, how quickly it ended.  I made a joke it had to do with our awesomely renovated master bathroom, with the luxurious soaker tub Sam insisted we put in.  Plenty of times I find myself reliving Sonzee's birth and the 20 minutes following, when I knew something just was not right with her breathing.  I play the conversation I had with my doula over and over again.  I remember after asking her opinion of the situation, she agreed with me, making me even more nervous because this woman is usually very apprehensive with interventions unless they are 100% required.  I remember she told me a story of a birth she had been at where the mom asked about the baby's eye movements and everyone shrugged them off to "weird baby movements", only to learn five days later that he was suffering from seizures.

That story stuck with me the entire time I was with Sonzee in the NICU.  I have a fairly good inkling looking back that the little leg twitches and body jolts I witnessed and asked the nurses and doctors multiple times about were actually seizures.  It makes sense they were not as evident as she was on three different types of antibiotics and after months with the Sonze, we know she does her best when she is on them.  The doctors/nurses reassured me numerous times that "babies do weird things" and that after her course of antibiotics Sonya would be a perfectly healthy baby girl.  When I look back on my week in the hospital with her, it brings numerous feelings to the surface.  I honestly do not think I have properly dealt with all of my emotions from that experience just yet.

What resonates with me now is the fact that we did not get her treated for seizures until she was over 4 weeks, but I am certain she had been having seizures from birth.  If I think back to the comments I made to Sam about her movements while I was pregnant with her, she was probably having seizures in utero as well.  When she was 3 weeks old I asked my dad, "what if she is having seizures and we aren't aware of them", his reply made me a bit more on edge since he did not brush off my concern, but instead said, "The thing about babies and seizures is you just have to wait and see".  It makes me sick to my stomach to think about it.  I wonder how different would she be if we had given her anti-seizure medications sooner.  Would it have made any difference?  I like to think not, but is that the case?

I know there is nothing I can do about it, and there is no reason to dwell on the past.  I know I did the best that I could and it isn't as if I had experienced it before so how could I have known differently?  I cannot change the past and I cannot beat myself up over how things unfolded, but the fact that hindsight is 20/20 is just another thing added to my short list of things that are truly filed under "things I hate".

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We are ranked #...

Thank you everyone who goes to Rate My Blog or clicks on one of the Top Mommy Blogs banners on a daily and or weekly basis!  I am so proud that Sonya's Story is ranked #3 in the special needs category.  It is truly amazing to be ranked so close to the top ensuring that others will be able to come across my blog and learn about CDKL5 and help us raise awareness!   This all because of YOU and is much appreciated!!! Sonyas Story A Journey  With CDKL5

blog address: http://www.sonyasstory.com blog details: Sonya was diagnosed with a mutation on her CDKL5 gene when she was 2 months old. She began having seizures at 4 weeks and 3 days, and after genetic testing we learned the cause. She deals with daily seizures as well as global developmental delays. This blog is used as an outlet to discuss feelings along the special needs journey. keywords: CDKL5 Sonya's Story Epilepsy member since: September 26, 2015 overall rank: #71 | category rank: #3

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Who am I here for?

With every activity, therapy, medical procedure and doctor I choose for Sonzee it is of course always with her best interest in mind.  I try really hard to think about what she will benefit from on a developmental level as well as her own personal enjoyment.  There have been times lately while we are in one of her scheduled classed that I find myself wondering who am I really in the class for.

With all of her activities and appointments her participation and awareness really depends on the minute.  I wish she would print out her anticipated seizure schedule because it would be extremely helpful for me as I create her schedule.  If she's tired or cranky and has had a recent seizure this obviously negatively impacts her involvement.  I try hard not to get frustrated since there is nothing I can do about it, but I have had to leave classes or sit to the side because it was just not going well.  It is on these days especially, that I tend to question my reasoning for putting her in the classes.

Is she really benefiting from being a class that is geared towards typically developing kiddos?  Am I only putting her in these classes because all of her siblings went through the classes?  Is she in these classes simply because it is what I am used to doing with a child her age?  Is she cranky because she is telling me this isn't the right class for her?  Am I doing this class because deep down I hoping she will be more typical?

When I people watch during these classes I can usually see the concerned looks from other mom's who don't know about her diagnosis.  They watch me interact with her and then give me a half crooked smile as our eyes meet.  They watch her, they look at their child and they ask me if Sonzee was a preemie or how old she is.  Sometimes I wish I could read their minds accurately because I would happily answer the questions it appears they are wondering.  I wonder during these times if I am making a bad choice putting her in this type of situation. Or is it my feelings I am wondering about?

I tell myself it will be great for her in the long run being exposed to typically developing same aged peers, but will it?  Or am I simply questioning my decision because of my discomfort?  The awkward way I feel when I look around the room at all the typical kids.  I wonder how much of my discomfort is in my head.  I wonder if she would benefit more from a group interaction with others who are in the same developmental stage?  Or is just me who might feel more comfortable?

When I am in these classes I am constantly wondering,  "who am I in here for?"

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Thank You

A big thank you is in order to all of YOU who have joined our journey, spread awareness, purchased Team Sonya shirts, and participated in our fundraisers.  It is amazing to have such support and it would be impossible to spread awareness of CDKL5 or epilepsy without you!

We have been having some incredible Team Sonya fundraisers here in Phoenix throughout November.  It was a great turn out for the Saturday night Arizona Coyotes Vs. NY Rangers ice hockey game, November 7.  Thank you to all of you who came out and showed your support!

We also had a great time hosting a CDKL5 and Epilepsy Awareness table at a local health fair this past weekend.

Thank you to everyone who made donations and now has pens, water bottles, and totes to help spread more awareness.

Another successful event was our in house Mary Kay party, unfortunately I do not have any pictures from the night because we were pampering ourselves, but it was a lot of fun, and more money was donated to the International Foundation for CDKL5 Research.  A HUGE thank you goes to my soul sister Jennifer Causby for flying all the way to Phoenix to be our Mary Kay rep!!!

It is truly heart warming to see so many of you help raise awareness for CDKL5 and Epilepsy.  I appreciate all of you who have offered to host parties for your products, you are ALL fantastic!!!!

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Raising Awareness

As of a November 13, 2015 article published, 1 in 45 children are suggested to have been diagnosed with Autism based on a new government survey of parents.  Due to the numbers coming from a parent report, the official estimate according to the U.S Center for Disease Control is 1 in 68 American children are diagnosed with an Autism Spectrum Disorder.  Most recently in the last 5 years more research has determined that the cause of Autism is both gene related and due to environmental factors.  There has been a TEN fold increase in the past 40 years, and the increase is attributed to both improved diagnosis AND awareness.

According to the ALS Association, in the summer of 2014, millions of people began discussing Amyotrophic Lateral Sclerosis by simply making a video of dumping ice cold water over their heads and nominating others to do the same or make a donation to the ALS Association.  Before the time of the "Ice bucket challenge", significantly less people knew what ALS was.  Due to the social media frenzy surrounding the ALS Ice bucket challenge, a critical effort was made possible in paving the way for "drug development guidance designed to accelerate the development of therapies to slow or stop ALS".  There is currently one FDA approved drug that "modestly slows the progression of ALS in some people". 

The Susan G. Komen non-profit organization brings awareness and advocacy for the fight to end breast cancer by providing the 3-day race for the cure, selling clothing and holiday theme cards, and offering credit cards with pink ribbons so more women learn about early detection methods.  There is now a 99% 5 year relative survival rate with an early stage breast cancer.  

If you ask me why I began Sonya's Story, I will tell you two answers.  My first would be simply because my mother (and Sam) told me I should do it.  It would of course be a great outlet for me and it would be a great way to document our journey.  The second answer, which is weighs more in my mind, is solely due to my desire to raise awareness for CDKL5.  

Unless you have come across Sonya's Story or know one of the other approximately 1000 families impacted by CDKL5, then you are part of the billions of people that have no idea a mutation on the CDKL5 gene is even possible.  Before April 17, 2015, neither Sam, nor I, nor our family or friends had uttered these characters together.  We did not know the challenges 4 simple letters and 1 number could provide.  We did now know that we would have a child living with an incurable disorder.  We did not have a cause.  

 While donations are amazing because they pave the way to a potential cure, what is even more important is getting the accronym "CDKL5" to roll off your tongue fluently.  It is sharing the symptoms so others who have undiagnosed children experiencing seizures paired with developmental delays and other hallmark signs might be able to get their answer.  It is teaching professionals about a disorder so they do not tell parents "babies do weird things" when there is something more serious going on.  

Why do I feel it is important we raise awareness for CDKL5?  The more people who know about the disorder the more attention it receives, the more it is talked about, and the more I feel like I am actually doing something that could benefit Sonya. 

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Epilepsy Ettiquette

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