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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