Tuesday, December 31, 2019

2019

I have been thinking about this post for the last couple of days, thinking how different this one feels to write compared to the previous four year in review posts.  While it has been just another year filled with too many doctors visits to count, approximately 15 or more ER visits, multiple procedures, two potential sepsis' due to central line hospital admissions, PEMU stays, routine meetings, nursing challenges, out of state hospital adventures, and the usual major decision making, it has also been a year that has provided some more specific directions for how we continue our care for Sonzee.

This year we were able to find a seizure tracking device that is actually able to detect Sonzee's bigger seizure types due to a company that was willing to give us a company laptop and the go-ahead to keep it until we figured out the best algorithm for it.  We are so appreciative for this peace of mind we have been given.  2019 was by far the worst year of seizures for her, and despite my firm stance on not trialing another medication, I gave in and it sadly turned out the way I anticipated.  She has had twice the amount of seizures than she did in 2016 and over 160 more than last year.  We end the year with her on 2 high doses of anti-epileptic medications, a rapid cycling VNS, and still no seizure freedom in view. 

2019 was the first entire year of her life she spent with a central line and one that was accessed 269 days of the year.  Having a port afforded her the opportunity of adequate nutrition, the ability to avoid multiple hospital admissions due to the ability to treat her with fluids at home, 1.5 times her hydration needs, and to still spend approximately 60 days in the pool getting her swim on; however, it resulted in at least 52 needle insertions and allergic or adverse reactions to numbing creams and antimicrobial patches.  Via her port Sonzee received Total Parenteral Nutrition (TPN) and Lipids in addition to her intestinal feeds and gained 4.2 pounds and approximately 7 centimeters.  However, nothing is ever without a cost, and so we also learned this year that she is anemic and for the majority of the year was Fatty acid deficient.  She is currently on or has had treatments to ensure neither becomes a problem in the future.

In 2019 it was confirmed her bone density is due solely to her CDKL5 mutation as her other genetic panels revealed no other genetic mutations.  Throughout 2019 she only suffered two new spinal fractures and one tibia fracture in January, but as of her March scans all bones were healing appropriately and she has (thankfully) not suffered ANY fractures that we are aware of.  In 2019 we learned her DEXA score is -11.8, which places her in the severe osteoporosis category (anything -2.5 and beyond is osteoporosis) and she is her endocrinologist's all-time 2nd worse DEXA scoring patient (yay?!)  During 2019 Sonzee traveled for the 3rd time to the CDKL5 Clinic of Excellence in Denver Colorado, gained a new interventional radiologist at Columbia Presbyterian in NYC, and added another orthopedic doctor here in Phoenix.

During 2019 Sonzee gained a new home health nurse and then 8 months later lost that same nurse so she can could further her career, but her favorite and first nurse since she started with home health nursing became her main and only nurse.  We also sadly lost our favorite clinical nursing supervisor with our agency due to scheduling, and also had yet another change with her DDD supervisor, but we are learning to adapt to these types of changes better.

In 2019 we learned that Sonzee's CVI score drastically fell from a 5 or 6 down to a 1 or 2 despite the fact that CVI scores do not typically worsen (unless there are extenuating circumstances), but she has managed to thankfully be a solid 2 out of 10 based on her December Opthalmology visit.  This, unfortunately, has left her with limited desire/ability to utilize her Tobii eye gaze device and so it sadly sits collecting dust in her room.  During her recent eye visit, we were also given instructions to begin patching again to try and help her better utilize what sight she has with fewer distractions.

The most challenging part of 2019 was watching Sonzee begin a steady decline in all areas of her health and visible zest for life.  2019 led Sam and I to many difficult tear-filled discussions and arguments with multiple professionals in order to determine what is really the best for Sonzee.  We signed a DNR and made the decision to treat her at home and avoid the hospital at all costs.  While the decisions were not easy to make and put a lump in my throat, we know this is for the best for her.  2019 was the year we fully began to fully embrace palliative care on a different level.  It was the year we refused treatments based on our confidence in knowing Sonzee best and with no regret, but with a tinge of sadness lingering in the air over the situation itself.

It is hard to say whether 2019 was Sonzee's worst year, she has had so many rough times during each of her years, I cannot say one full year was actually the worst, but I can say this year was certainly not her best.  I can say with assurance that as we close out this year, it is the one that leaves me feeling the saddest about where we currently stand, and extremely hesitant for what will come.  I feel like 2019 took a lot from our little bear, and along with it a lot of my faith, hope, and what limited positive outlook I might have been hanging on to.  2019 is another chapter I am glad to be turning the page on, but if I am honest, scared to be doing at the same time.  We have enough years under our belts to know better than to ask for calmness or for CDKL5 to be kinder to us, so for 2020, I will ask that whatever happens, I am able to see and truly believe happened for the best.


The Mighty Contributor

Friday, December 27, 2019

Dec 26

It seems like, with all momentous occasions, meaningful dates in the land of medically complex life are just par for the course. The dates and sometimes even specific minutes or hours are etched into your mind as if they are celebrations, and maybe sometimes they even are.  I was signing a paper last night when  I noticed the date was 12/26/19.  It was at the same time I remembered a year ago Sonzee was discharged from her 22 days stay hospitalization on this very date.  While it was not her longest stay ever in her life, it thankfully has been the longest stay for her over the past year.  I certainly didn't forget she spent the majority of December 2018 as a resident of the 8th floor at PCH; meeting Jason Mraz, switching into 3 different rooms and watching the candlelight walk to ignite hope looking through her hospital room window.

Just a year before on December 26, 2017, Sonzee could be found swinging in the infant swing with pillow prop support at the park near our house.  Loving the breeze in her face she smiled multiple times while she was being pushed. 

A year before that on December 26, 2016, we were found in Florida at Sonzee's grandparents opening Chanukah presents while Sonzee worked on tummy time and spent some time relaxing in the hot tub.

During her very first December 26 in 2015, we were in California at Big Bear sledding in the snow.  She actually didn't mind being outdoors and I remember her having a fun time sledding.  During our drive, she gave us one of her biggest smiles I think she has to date ever had. 

On her 5th December 26 in 2019, while she wasn't the happiest bear, she did manage to get some pool time in, while on the last day of our staycation at the Great Wolf Lodge in Scottsdale.  She also was able to participate in her typical routine activities, going on a walk, taking a nice nap,  having a good bath, going in the car, and of course, seizing.  She finished off her day rolling around on a mat and then going to sleep.  It is amazing to me how all five of her December 26ths I remember as if they were all yesterday.  I know better to even attempt to imagine what her sixth one could look like, because a lot can happen in a year.


The Mighty Contributor

Monday, December 23, 2019

Karaoke

Sonzee's older siblings always love to put on shows, so when it came time for me to complete their wish lists for Chanuka Angels gifts it was a no brainer to include a karaoke machine and karaoke microphone.  The box of the karaoke machine came unwrapped and our middle daughter knew it was for her because it was in her pile, so she has been eagerly anticipating opening the actual box.  Our son who really didn't know everything that I requested for him was eyeing a specifically shaped box in anticipation of it being a microphone, thankfully it worked out for the best when he opened his gifts.  Sonzee did get a really awesome spinning light wand from her aunt that would be totally awesome to use during their shows, but as usual, despite our best efforts, she was unphased and indifferent to her gifts.

I usually keep Sonzee's gifts limited to things she actually needs, such as clothing, backpacks, pacifiers, or pacifier clips.  She doesn't show any reaction towards anything she is given, and honestly, she doesn't seem to even be aware that she on the receiving end of a gift.  It is probably more a protective mechanism for myself that I limit the types of gifts she receives because there is no excitement, no reaction, really, there is no awareness at all.  From a parent's perspective, it is really sad because the best part of having your child open a gift is their initial reaction.  Due to the safeguards I have in place and the fact that we are blessed with four other kiddos, I didn't find it difficult to handle the gift opening portion last night on the first night of Chanukah but then we started family karaoke and I have yet to find the solution to the unplanned emotional situations that inevitably occur.

The karaoke machine was hooked up to the TV, the microphones were connected, the lyrics were on the screen, red, blue, green, and white disco lights were spinning in a darkened room, and the music was blasting.  We might as well have been called club Zaila, it was the best.  I started to record the kids singing at the top of their lungs and then panned across the room until I got to Sonzee who was just laying in her ppod not participating.  A mixture of exhausted from her recent seizure, the multiple other ones she had throughout the day, and just CDKL5 in general.  She didn't care for the disco lights going, she wouldn't even look at the awesome spinning wand her aunt gave her.  She was just blah.  I felt the tears enter into my eyes, but I immediately pushed them away.  I didn't feel like letting CDKL5 steal another moment.  It was much more fun to focus on my older three dancing while they sang at the top of their lungs, so I flipped my emotional switch to off and pushed the pain away.  Always on the tight rope of acceptance and hope of something.  While I fully accept who she is as a person, I still hold onto some hope that maybe tonight she will want to look at her amazing spinning light-up princess wand when we turn back into club Zaila.   

The Mighty Contributor

Monday, December 16, 2019

The plan

I have always been a planner.  I surprise myself sometimes with my ability to continue planning, even though so many times over the last close to 5 years my planning has not yielded the same outcomes as I had anticipated.  I have learned planning is just one component and not even necessarily the most important part, it is the execution of those plans that almost weigh more than all of the preparation, and sometimes even though the plan is in plain sight and you can clearly see the words written out in front of you, your specific desire for the situation to unfold in the manner you thought, isn't always in the cards.

April 16, 2015, was the day that reality shifted, all of our parenting plans as we knew them, changed.  It was the day that I learned you could breathe but your lungs might not fill up with air.  It was the day that I learned that rare can happen to anyone and when it does, it doesn't feel very rare at all.  It was a day that time simultaneously stood still and flew by all at once.  It was the day despite being married 6.5 years already that I would first see Sam cry not because of a birth of one of our children, but because his world was crumbling around him.  There was nothing we could do but once we collected ourselves we made a new plan.

Had you asked me 4.5 years ago, I would have said the first death amongst my non-special needs framily would have been Sonzee.  The plan was Sam and I sitting shiva first because she had passed.  It was supposed to be our friends navigating how shiva worked and things to do.  I never entertained that one of my closest friends would have had to suffer the loss of her mother first, and I certainly never imagined any of Sonzee's grandparents passing first.  Logically I know that is how it is supposed to be, but that wasn't part of the current plan.  It's true you just never know what can happen, and for the last week and a half, I have been wondering why Sam's dad passed.  His soul's mission had clearly been accomplished and his purpose on earth fulfilled, yet none of us here will be privy to the real answer.  What peace I have gathered in my mind over it all is that someone needs to be waiting for Sonzee when it's her turn, and I know when her turn comes, he will be waiting with a cigarette in hand, open arms, on a bent knee and a huge smile on his face...at least that is the plan.

The Mighty Contributor

Monday, December 9, 2019

368 Days

On December 5, 2018, Sonzee had a checkup with her ophthalmologist at 7:45am and then we made a mad dash to admitting at PCH in order to make our check-in time for her port placement.  The surgery went quickly and thankfully uneventfully, and then later on that night she began her 2nd journey with TPN (an acronym that in short means she is getting food via a central line directly into her bloodstream).  We didn't know what to expect, we didn't know where the journey would lead.  A year ago she weighed 8lbs less and was about 5inches shorter, her GI system was exhausted, and she was in so much pain it was unbearable.

368 days have passed and it is hard to consider her without her extra tubing and hardware, yet eventually, we will probably have to do just that.  Every month the suggestion is made and Sam and I take a deep breath, swallow, and say "no".  If there is one thing I have gained on Sonzee's journey it is confidence in truly knowing that I don't need to humor anyone anymore to prove I know her best.  I know what taking her off of TPN will look like.  I know it in such a way that I could place dates next to each step forward and ultimately backward she will take.  I know that for 4-6 days her body won't say a word.  I know that after a week she will start to display some discomfort.  I know that we will never be able to maintain her required nutrition.  I know that she won't gain any weight, and she will eventually lose all the weight she put on over this past year.  I know that in the long run, it just won't work and we will be back to debating putting her back on it for the 3rd time.

Yet, I sometimes wonder did we get ourselves in too deep when we initially made this decision.  I know we did it with her best interest at heart, we did this for her, but what is supposed to happen next?  Is keeping her on worth the continuous risk of a central line infection that could cause her to be septic?  Is taking her off worth the risk of her losing weight and ultimately ending up in excruciating pain 24/7?  Does keeping her on or taking off even matter in the long run when she is now anemic, and still dehydrated despite all our efforts?  If only we could know what lay ahead.  If only we knew that keeping her on it or taking her off was the right answer.  Yet, we don't have the answers and we won't know what is meant to be until it happens.  So on Tuesday, we will go for our monthly appointment only to be faced with the same question and ultimately we will wait another month because that seems to be the only decision we are able to make.


The Mighty Contributor

Tuesday, December 3, 2019

1000 words

They say a picture is worth a thousand words.  That was the very first thought that popped into my mind when I received the email from Shutterfly that Sonya's school pictures were ready to be viewed.  I had spent the last week in anticipation of seeing hers since her older siblings all received theirs already.  I quickly opened the email and then paused.  Or maybe it wasn't so much a pause as I got smacked so hard in the face I had to pull myself together.  Maybe it hit so hard because things are completely all over the place in our house this week?  Maybe it hit so hard because I am a firm believer in never doing retakes because whatever occurs during the picture is the reality of life in that specific moment?  Maybe it hit so hard because I initially had forgotten about what actually occurred on picture day in the first place and after a quick moment I was jarred back into reality.

I debated between this two-piece outfit and its fraternal twin whose shirt was a dark shade of greenish blue.  I had been voting on the darker shirt but was vetoed by others who felt the mustardy yellow was brighter and better suited for picture day.  I obliged.  I picked out 2 glitter ponytail bows and let nurse Paige do her thing (clearly she is always on point as evidenced in the image below). The morning of picture day I told Sonzee numerous times "your pictures are in the morning, please wait and seize after".  When I dropped her at school a little after 9am I gave her a kiss and reminded her again to just hold off until after her pictures, and then got back into the car.  Within 8 minutes I received a text that said "Ugh. For real. Pics are at 1030".  Nurse Paige mentioned they were going to try and fit her in at a different time after she woke up, and I replied: "ok, if not it's the life of Sonze".  They waited, put on a horse and pony show-pompoms and all and nurse Paige said: "she is just sort of blah". 

A month later and I forgot.  I forgot how much I dislike CDKL5 and I forgot how her mutation causes issues in every. single. domain.  I forgot that I don't exaggerate when I say "she seizes all the time".  I forgot that no matter what medication we put her on it won't take away the negative effects her frameshift mutation causes.  I forgot that she gets absolutely no say in how her body treats her and how much she has to always endure.  I forgot that even though a picture says 1000 words, Sonzee cannot say one and we won't ever know what she must have felt like after she endured one of the literally (conservatively averaged) 5,000th seizure she endured before being placed in this chair.



























The Mighty Contributor

Wednesday, November 20, 2019

Suffering

I haven't been able to get the word suffering out of my head recently.  It just follows me around like a real-life version of Jiminy Cricket, constantly there, unable to shake, just lingering.  Every time I watch her seize, when I see her confined to a chair, when she is laying in the same spot on the floor, as I lift her from point A to point B, essentially all. day. long.  The mental follow up thoughts are why, and for how much longer?  It really is such a delicate place to be, unable to comprehend life without her in it, and wondering when G-d will end-all of her pain and suffering so she can actually be able to truly rest. 

I often wonder what she must be thinking and experiencing herself.  What does life look like through her eyes?  We don't get the opportunity to know her thoughts or feelings.  We assume the majority of what she is communicating.  We make unthinkable decisions on her behalf.  Her body does the same thing on repeat daily, with only stopping if she is sick.  Days full of seizures and the aftermath that they bring.  Medications that I am sure cause side effects she doesn’t even complain over because it is her norm. She is forced to experience constant seizures that are unable to be controlled and unwilling to give her an opportunity to truly participate in life. 

It breaks my heart to watch her suffer like she does.  It breaks my heart that we have failed to bring her any type of relief no matter how much we have done or how much we have tried.  It breaks my heart that there is not a single thing we can do to stop this vicious cycle of attempting a remedy and failing miserably or sometimes less miserably.  It doesn’t help and I don't want to be told: "she doesn't know any different" because that does not make it okay.  It does not make it justifiable.  It does not make me feel even an ounce better. And most importantly, it does not reduce any of her suffering.

























Friday, November 15, 2019

Still...Always...Forever?

A picture popped up on my news feed the other day.  A little girl...also diagnosed with a CDKL5 mutation...who was sitting.  I wish I could understand why despite the fact that I have accepted it isn't part of Sonzee's fate, it still tugs at my heart whenever I see a similar type of picture.  I know I shouldn't compare, I know no CDKL5 mutation is good, I know it all sucks.  However, it immediately makes me wonder, "why couldn't that be in the cards for Sonzee?", "why does her mutation not allow her to do that?", "Why did no amount of money or intensive therapy buy her that ability???"

I understand this is part of this journey.  There will always be struggles for Sonzee in essentially every life category, and there will always be struggles for me on the emotional/psychological and in some cases even physical categories.  It is one of those times it is safe to say the word always.  It isn't an exaggeration, it is just a fact.  Situations that have already occurred, ones that have and will continue to reoccur, and the ones we have yet to encounter, there will always be something, thanks to CDKL5 Deficiency Disorder (CDD).

Despite knowing that these situations and feelings are going to continue to pop up it doesn't help. I try not to get too far ahead of myself thinking of things she isn't or won't be able to do as the years continue to go by, but the facts are always there.  Usually right in front of me in such a blunt way that it is hard to ignore, like having to change her diaper at almost 5, or having to carry her like a newborn at almost 5, or having to feed her through various tubes.  I try to wake up each day and tackle it anew, without anything hanging over me, but the fact that this is going to be forever...it makes each little thing that much more difficult.


The Mighty Contributor

Monday, November 11, 2019

Now what?

Prior to the official CDKL5 diagnosis, we were told by the epileptologist who originally read Sonzee's EEG that she was most likely not going to outgrow her seizures.  At the time it was Sam who was told this when he asked him if he thought she might.  The doctor never went on to explain why he felt that, nor did Sam push for clarity.  I took that statement to mean the reason behind her seizing wasn't "a good one".  When she gained the CDKL5 diagnosis, we feared her getting the infantile spasm diagnosis, but held onto the fact that at the time she had only 50% chance of them occurring.  Sadly, it wasn't her that was spared.  Although we didn't have any sort of seizure control it was during and then after failing the specific infantile spasm treatment that I feel like we started losing this battle.

For close to 5 years we have made every attempt under the sun to try and alleviate some of Sonzee's seizures. We have failed a ridiculous amount of medications, had a device implanted, attempted CBD and THC with her very own medical marijuana card and knowing it most probably wouldn't help, still tried the CBD that became FDA approved last year.  Don't get me wrong, everything we have done has in some way made a slight difference, we have achieved some minor victories with these little CDKL5 wars, but it just isn't anything substantial enough to allow her to gain skills or not suffer all the time from constant seizing.

This past August for the first time in her life I said, "no more".  No more to the "maybe it will work", no more to the "let's just see", no more to the "we don't know", no more "trying it out".  After close to 5 years I know how this game works.  We had enough history to say "no more" was a completely educated statement.  However, when you aren't alone on a journey like this it takes both parents to say "no more".  Sam wasn't quite on board with what he calls giving up.  He wasn't quite ready to throw his hands up in the air and say we have given it our all, and so despite my better instincts I said "One more time, and this is it.  We give her a hardcore med and you see that it won't work and she will lose her head control and then that is it, we are done."

As of Thursday last week our epileptologist said, "if it isn't working, wean it as slowly as you started it".  So here we are, like I anticipated with just another medication/combo failed.  There is no victory in "being right", in "knowing" this was going to be the outcome.  There is just pure defeat, sadness, and anger that her CDKL5 diagnosis continues to prevail.  It continues to wreak havoc on her body and especially her brain.  It continues to not cut her any slack or let her have a victory.  It just leaves us all sitting here wondering..."now what?!"

The Mighty Contributor

Thursday, November 7, 2019

which one?

I recently participated in an online CDKL5 poll where the question suggested we choose the top three challenges that impact our child with CDD (CDKL5 Deficiency Disorder) the most out of the list of options provided. I made a sarcastic chuckle while I sat at the computer at work typing up my notes from the kiddos I had worked with earlier.  I wondered, "Is this a joke?!  Am I really being asked to prioritize what I perceive as my 4-year-old's biggest struggles from a list of around 10 items?  This has got to be the worst real-life version of the game “would you rather have and/or be?! ever played"  While I appreciate and completely understand this information is vital to assisting with potential treatment options, the concept behind the question and the question itself stirs up so much emotion.

The choices to rank were essentially every deficit CDKL5 could present with in a diagnosed child.  The only one that for us thankfully has never been an issue is lack of sleep, which is typically one of the most challenging effects of having a CDKL5 mutation, but at least one was knocked down on my list.  I am pretty sure she is only spared of that due to her ridiculous seizure activity that results in constant sleeping.  Otherwise, the list was comprised of all the challenges we are faced with and essentially zero way for me to identify which one is of highest priority for her to be rid of. 

She still has uncontrolled, daily seizures, so naturally that is at the top of my list since they are definitely not comfortable for her, they take away her already limited quality of life, and they make her sleep away her days.  But are they worse than her GI struggles? Those struggles for her are insurmountable, so much so that her stomach is completely unable to process even her own bile requiring it to be drained 24/7, she receives a portion of her feed directly into her intestines AND because that wasn’t sufficient to help with easing her pain OR providing adequate nutrition, she also has a central line so she can receive nutrition directly into her veins.  If I had to prioritize maybe this would be of highest acuity?

I do think that GI and seizure control are areas that are most important for researchers to tackle, BUT there was also the option of communication. You mean I now have to decide if our inability to communicate with our child outweighs the seizures and GI challenges?! How do you even explain to someone what it is like to have NO idea what your child is experiencing, thinking, wanting, and or feeling?! Every moment with her is equivalent to playing a game of charades with a newborn baby, EXCEPT she is 4 AND she makes ZERO functional hand/body movements.  I am sure she has plenty of thoughts and opinions BUT they are LOCKED inside her brain with an inability to get out. Even with the eye gaze device, she was provided, it is useless because she is so significantly impacted by her cortical vision impairment.   

In addition to those areas, there was also the ability to sit, bear weight, and or walk.  She does none of the above.  I wish she could at least sit, the amount of benefit that would give her body would be indescribable.  Maybe if she was bearing more weight and could take a few steps she wouldn't be phased with such severe osteoporosis that requires bisphosphonate infusions that we have stopped doing because they negatively impact her quality of life and the benefits do not outweigh that fact?!  Maybe if she were able to get up and move freely she wouldn't have suffered 12 fractures in a year due to significantly weakened bones?  

There were other options listed, but for the sake of the post I will stop here.  I wish there were a way for me to be able to answer what three struggles impact Sonzee the most, which three deficits I would say need curing the most, but the reality of CDKL5 is that her struggles are not limited to just three.  Fixing three or improving three while a great start, does not help when there are at least 3, 4, or more equally as negative struggles left waiting to be fixed.  Maybe I am selfish or wrong for wanting all or nothing, but there is no amount of potential suffering that is okay for any person.  There is no symptom/deficit/etc. that does not need to be cured.  There shouldn't be a priority list or a list that parents should have to choose which challenge is more significant than another.  CDKL5 mutations should just not be able to occur in humans and if they do, there needs to be a way to eradicate every single challenge that comes with it, so no person or family should ever have to wonder which struggle matters more!


The Mighty Contributor

Monday, November 4, 2019

13 weeks

In 10 weeks our oldest daughter turns 10. That means in 13 weeks Sonzee should be turning 5. It’s a birthday I have never prepared for, a day I wasn’t sure would ever come, a year I told myself we might not get to experience with her. As it creeps close I am torn between potential excitement at all that turning 5 represents and fear that letting my mental protective guard down will only prove to be catastrophic should my worst fears become our reality.

When Sonzee was diagnosed with CDKL5 when she was only 8 weeks old I immediately joined the CDKL5 parent support page. The first 10 months was filled with so many infant, toddler, and less than double-digit aged deaths that it shook me to my core. Whenever I have been asked about Sonzee’s prognosis and if there was an “age limit” I would answer, “it is unknown, there seem to be benchmarks that you can semi sigh of relief if the kiddos pass them, but I honestly have told myself 5”.

Within a month of celebrating Sonzee’s 4th birthday I had a dream, that I had finally allowed myself to plan for her 5th birthday, I went on Etsy and purchased one of those birthday shirts that had the number 5 and of course had it personalized. Then she passed. I never have been able to tell if that dream was a premonition or just my anxiety but we have watched her decline tremendously since summer and I honestly don’t know where her little body stands.  I don't know where my mind stands.

As each day passes and February 11 comes closer I am internally torn. I want to plan for her birthday celebration, I want to look forward to her preschool/kindergarten transition, I want to know with certainty that 2020 will bring me a 5-year-old, but like with so many things over the last 4.5 years I’m cautiously optimistic, but preparing for the worst. My sister semi joked that I should just avoid buying her a shirt on Etsy, if only that could dictate her fate and if only I could allow myself to plan.  But instead, I hesitantly look towards the next few months with hope yet filled with this indescribable weight of something lurking in the distance that is completely out of my control.



The Mighty Contributor

Thursday, October 17, 2019

The Little Green Dress

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

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

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

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

The Mighty Contributor

Monday, October 7, 2019

We all have...

Over the past few months, I have been fortunate to get closer to various women and have some rather intimate conversations.  They aren't just about Sonzee, they aren't only about special needs children, the subject matter varies depending on the person, and there is always discussion regarding a personal struggle.  I didn't need these conversations to know that everyone struggles in their own way, but they are always an incredible reminder of all the struggles that every single person has to deal with.  That part is double-edged because there shouldn't be such intense struggling for people to have to endure, but it is good for us all to keep in mind we all have to deal with less than ideal situations all the time.

So often I am told that I am so strong for dealing with what I have to, but I wonder how many of those people who say that to me realize they are the same strong for dealing with what they might not have even shared with me.  No one can begin to understand the exact struggle of another person because it isn't theirs to own.  It isn't one they have to understand inside and out.  It isn't one they wish upon anyone else.  It isn't one they even know how they are going to handle themselves.  But since IT was the struggle they were given, they will HAVE no other choice but to be strong and tackle it day in and day out.

To quote one of these amazing ladies, because it sums it up perfectly, "we all have our Sonzee's".

The Mighty Contributor

Thursday, October 3, 2019

Instead

On the first day of October, my newsfeed was filled with posts regarding infant loss and miscarriage.  This is such a sensitive and personal topic, but the more the posts that popped up on my feed the more my mind couldn't ignore my thoughts and feelings.  I personally make it a mission to avoid any controversial topic that could possibly offend others, but I just can't seem to bury my emotions on this one, so I am going to hope at least one other person will be thankful for this post.

3 years ago Sam told me to take a pregnancy test.  I argued with him, I told him I wasn't pregnant.  He said, "I have done this enough times to know you...take the test".  Three tests later and me convinced they were all incorrect we laughed and cried.  We weren't ready, Sonzee was not in the best place, our minds had not even settled on whether or not we could handle a fifth child.  I mentally had not come to terms with the fact that there would be absolutely no way to confirm if this baby would be healthy, how would I be sane for the entire pregnancy?  I emailed Sonzee's geneticist, I scheduled an appointment with my OB immediately, I panicked.

Our OB knowing where I was mentally immediately sent us over to the perinatologist we had used on the previous pregnancies for various unrelated to Sonzee reasons, and he got us in almost immediately.  We sat in his office and discussed all of the options should we find out this baby wasn't healthy.  He also said that during Sonzee's next labs we could send a vial over to a company that hadn't done her initial genetic testing to have them "confirm" the results so they would have it on file for any comparison testing we might do with the fetus.

4 weeks later we sat in the same office as he told us there was no heartbeat.  I recall feeling half relieved and half disappointed.  I rationalized that we had 3 healthy kids and that we weren't ready, but I feared that this baby might have had CDKL5.  Did that mean Sonzee was the result of germline mosaicism?  Did that mean we shouldn't even try again?

It took another 4 long weeks to actually miscarry and another 2 months for my lab work to return to normal.  The entire experience was 5 months in total. 5 months where others announced their pregnancies, 5 months where friends had healthy babies, 5 months that I was emotionally all over the place but few people knew the real reason behind it. 5 months where I couldn't move on.  I was and am still filled with mixed emotions over the experience.  I mourn the loss of the potential, but I do not mourn the fact that I truly believe something was unhealthy with the baby AND I know what having an unhealthy baby means. 

I spent a lot of time thanking g-d for knowing I couldn't handle another child like Sonzee.  I understand what happens when genetics doesn't get it right and the challenges that are the result of that shift.  I understand on an entirely different level than I could ever want, what happens if a child is compatible with life, but not capable of being a typical functioning member of society.  I understand how devastating the loss of a child can be, but I also know that in a lot of cases it is for a reason.  While we may never be told the exact reason, and not everyone can understand what it is like to be on the medically complex side of what that potential reason might have been, for someone like me, while I mourn the loss of what could have been, I am grateful that instead of having to watch another child of mine suffer, all of the pain of the what-ifs, of the potential, and of the unknown, was placed onto me to bear instead.


The Mighty Contributor

Monday, September 23, 2019

The stars

One of my mom friends, Bridget, who also has a child on a medically complex journey posted a song on Facebook with the words, "Might seem strange, but sometimes a romantic song can actually change its meaning when you have a child", she went on to say "If you're a mommy of a non-verbal child; this one's for you."  For the past couple of weeks, our house has been slightly obsessed with listening to "The Greatest Showman" songs on Spotify, on the house Alexa, on YouTube, literally, anywhere we can get the songs playing.  I love all the songs on the soundtrack, however, "Rewrite the Stars" is the one that if you pull up next to me driving, you can bet money I will be belting out the words as loud and off-key as possible with tears in my eyes or rolling down my face.  

It seems to be the perfect duet with Sonzee these days.  Almost every single phrase I can relate to her life and our situation.  From the heartbreaking reality that "Fate is pulling you miles away And out of reach from me", But you're here in my heart".  To the literal facts that I am sure she feels, "You think it's easy You think I don't want to run to you But there are mountains And there are doors that we can't walk through".  Which leads me to the basic question, "How do we rewrite the stars?"  

Oh gosh, if only we could, if only it actually was possible.  No matter how many times I listen to the song the words crawl inside my heart and just sit there.  These last few weeks have been ridiculously brutal on Sonzee, on Sam and me, on our marriage and general family life.  The situation we are placed in is not normal and shouldn't even be considered normal in our special needs, medically complex, "atypical" world.  Decisions have been made, choices have been made, but there is no winner.  There is no winning in this lottery.

"No one can rewrite the stars", but "Say that the world can be ours".  "Say that it is possible, because "It feels impossible...We're bound to break and my hands are tied".

The Mighty Contributor

Monday, September 16, 2019

September

I wonder what it is about September and my inability to get my thoughts out of my mind.  I am thinking it is because this month historically tends to bring about undesirable thoughts or just doesn't do much to bring closure to any situations we are currently facing.  I have spent the majority of the previous two weeks not even wanting to sit down and write.  A few times I did consider it, but then decided I wasn't ready to make my thoughts completely public.  One additional time I began to write and two paragraphs in I was met with a barricade and haven't gone back to see if I am able to finish.  Tonight I am watching the time tick by, my eyes are blurry, but for some reason, this piece of paper keeps calling me back to it.

There is a constant lump stuck in my throat and tears that are literally a blink away.  4.5 years ago I couldn't have imagined a more delicate, emotional, and challenging journey to unfold for us.  4.5 years ago she was doing so well comparatively, and we were going to have the child who "broke the mold", who was the outlier, who didn't check off every damn box in the potential for CDKL5 directory.  4.5 years ago I told myself that she probably wouldn't sit, and if she did it would be around 3 as a method of self-preservation, but deep down I rooted for her, and could envision the excitement and party that was definitely going to unfold when she DID meet that milestone.  4.5 years ago we were blissfully unaware of the struggles that were occurring within her body metabolically and gastrointestinally speaking.  4.5 years ago we took it all day by day but woke up each day celebrating whatever Sonzee-stone she met.

Today on the couch in our living room we had another weighted conversation.  This wouldn't be the first of its kind this month, and it certainly won't be the last.  They are conversations that I never anticipated could occur in a casual manner, as we were drinking some cold brew, and while two of our kiddos were running through the house.  Conversations that prompted us to keep sending the one child who was old enough to understand on various expeditions to keep him out of earshot because it probably wasn't the most appropriate conversation for a child to be overhearing.  But as everything else CDKL5 related, we find ourselves dealing with a new normal, of completely abnormal and just going along with it, because that is all there really is for us to do. 


The Mighty Contributor

Monday, September 9, 2019

Choices.

A week ago everyone was home from school, the day was perfect to be outdoors, and without even second-guessing anything, we took Sonzee's port needle out and she was able to spend her day in her favorite place, the pool.  Despite losing time on her TPN/Lipids, it was an obvious choice. On Tuesday my phone rang and it was her endocrinologist's nurse.  I can't say I was not expecting this phone call, but I would be lying if I didn't admit that it should have occurred weeks ago and I was just waiting for it to happen.  The insurance kinks of her bone infusion have been worked out (I knew this weeks ago, but didn't rush to tell the office) because we have yet to decide is if it is in Sonzee's best interest for her to undergo the infusion.  On Wednesday Sonzee ended up with a fever and the protocol with the central line is anything over 100.4 becomes an automatic ER trip, yet we didn't exactly rush to take her in, the odds were in her favor that it was "just a virus", and lately the consideration of hospice has been on our minds.

Choices.  This journey presents us with the illusion of choices.  A choice is deciding on what is for lunch or dinner, or what drink you want from Starbucks.  By the way, all of those, thanks to the type of choices we have been presented for the past 4.5 years evoke major anxiety and panic attacks.  How is it even considered a choice to decide if Sonzee should go in the pool and have fun or be given nutrition?  Why do we have to decide to attempt to strengthen her bones to maybe prevent fractures and improve her bone health or keep her from experiencing 6 weeks or more of pain that historically wreaked so much havoc on her body she will cry to be picked up and won't be able to tolerate feeds for weeks?  Why are we even having to consider if we should be switching our 4.5-year-old daughter from palliative care to hospice care? 

None of this makes sense. Processing that this is part of our journey knocks the air out of my lungs. These choices might not have a "right" or "wrong" answer, but the results of each choice impact her life and our family's life.  There is no way around sugar coating the immense amount of weight that we are bearing.  I wish the biggest choices we were faced with were, which after school activities she wanted to be participating in, what lunch she wanted us to pack, and does she want to sleep with a nightlight on in her room?  But, that isn't our reality, and that isn't how life with a CDKL5 mutation works, so I will wipe away my tears, pull on the big girl panties, and try to do this right.


The Mighty Contributor

Monday, August 26, 2019

"Giving up"


This meme keeps popping up in my newsfeed.  The first time I read it quickly and passed by it, it was not the right time.  Then, of course, like a wildfire, it began to get copied and pasted by so many parents of CDKL5 kiddos and parents of children with medical complexities, so it popped up more and more.  Each time it emerged I couldn't stop myself from reading it, so each time my eyes would become watery and I would again move off the image.  I knew I wanted to save the image for when I was ready to address the words I kept reading, so eventually, I right-clicked it and pressed "save image", and now approximately a week after the first time I saw it, here I am.

"You're really advocating for someone's quality of life.  That's the moment you realize that you won't give up"

These two sentences take the air out of my lungs.  Maybe they hit home because of what is going on currently, maybe it would have knocked the wind out of me regardless of where we were on this journey had it appeared at another time in my newsfeed?  But all I think after I read the last sentence is, "what is giving up? what does giving up look like, how are those words even part of this picture?"  Advocating for someone's quality life is no small feat.  It looks vastly different for every single person who has to do it.  Advocating on someone's behalf is scary and unknown and when it comes to "quality of life" I feel like the answers are blurry, but the giving up part does not present itself as a single moment when it becomes "more than accommodations".  If you are advocating on behalf of a person there shouldn't be an epiphany where you suddenly realize "that you won't give up", because advocating in and of itself means you are going to represent what is best for that person until you are red in the face and no one has any doubts that you aren't backing down until this person's needs are met.  

Yet, the weight that is placed on those of us who are responsible for advocating for a person's quality of life is unexplainable.  It often brings with itself the inner feeling of wondering if a choice will be considered to be "giving up".  When it comes to "quality of life" in a medically complex child, who is to say what "giving up" looks like?  If the choice you choose on behalf of "quality of life" results in a potentially shorter life is that giving up?  Is it "giving up" if you no longer choose to keep seeking treatments?  If the main goal is "quality of life", then I feel like the words "giving up" should never even enter into our minds, because it has to be known that there is no such thing as "giving up".

The Mighty Contributor

Thursday, August 22, 2019

When life gives you lemons


When Sonzee was only 10.5 months I wrote a blog post about lemons.  As I read it now I know it was one of those posts that I wrote to try to boost my morale and attempt to be positive.  So much has happened since that blog post, yet there is still the same passionate desire for "her life [to] be easier, less painful, less scary, and less dependent."  I cannot say that these past 3.5 years have brought any of those things, but it certainly was not for the lack of trying.  I know we have made every decision for her based on our desire for her to achieve her best quality of life possible.  I will always wonder if she feels we have been successful or if she wishes we made different choices.  

Last night one of her sisters was at a class at the mall and while I waited I was able to walk around a little.  I have been meaning to get the initial bracelet for her baby brother because my best friend started the tradition when our oldest was born when she sent me the "L".  So when I saw the Alex and Ani store, I walked inside.  After picking up the letter "N", I was taking a look around.  These last few weeks we have been bearing an extremely heavy weight on our shoulders and I wanted to see if anything spoke to me, so when I saw the lemon, my only decision was necklace or bracelet.

I wish I knew what you're supposed to do "when life gives you lemons" because Sam and I don't always agree.  We have tried shelving them, squeezing them, making lemonade, freezing them, throwing them, making margaritas and every other possible alcoholic beverage with them.  Nothing seems to be fulfilling, nothing seems to make me feel like we have done anything correctly, nothing seems to make sense, and nothing seems to have made a damn bit of difference for everything we have done for Sonzee.  The only thing I can say is that we have been doing our absolute best and no matter where this journey goes, there won't ever be regrets.  

So every day I put this necklace around my neck I will remind myself that when life gave us lemons we did everything we could with the information that was given to us, with the support of those who have shared in the ups and downs of this roller coaster ride of a journey, and that really was the best we could do, no matter how short-changed or inadequate it might have felt.


The Mighty Contributor

Friday, August 16, 2019

Riverbend

We had the Alexa playing Disney radio this afternoon after Sonzee got home from school.  I feel like more often than not it plays the same exact songs on repeat; songs from Beauty & the Beast, Frozen, Moana, Tarzan, Little Mermaid, and The Lion King are the most often played.  For some reason today I noticed not only once, but at least twice "Riverbend" from Pocahontas came on, I wonder if it has played before and I just didn't hear it, or if today it was just one of those songs that came on because it was so relatable.

I feel like life has given us a swift kick in the behind these days.  These last two weeks especially have been weighing ridiculously heavily on me.  It seems it is just one thing after the other and I have no idea why it feels like everything is crashing down around us.  We have been in the trenches before, but for some reason, this time just feels different. As usual, I have no idea what lies ahead, but this time my heart hurts for different reasons and my gut is yelling at me at the top of its lungs.  It is deafening and suffocating any other thoughts all at the same time. 

It's tough, although I feel like that word doesn't really bring justice to what this whole journey has been and continues to be. But tough is just what it is, and for now "I look once more just around the river bend.  Beyond the shore where the gulls fly free.  Don't know what for what I dream the day might send. Just around the river bend for me"


The Mighty Contributor

Thursday, August 8, 2019

Resurface

The pain that accompanies this experience is one that I am sure will resurface as the years continue to breeze on by. 

I was driving in the car this morning on the way to a toddler gymnastics class with Sonzee's baby brother.  I have been looking forward to starting this class since the minute he was born.  As the months past by I was so eager to enroll him, and finally about 3 weeks ago I did just that.  I confirmed that our beloved Coach Susan was teaching all the morning classes like she did over the previous years.  Halfway to the gym my eyes filled with tears as I was thinking the first time we set foot in this gym was 8 years ago, then our second child followed suit as soon as he was 18 months, followed again by our 3rd, but then our time with Coach Susan came to an end with Sonzee, and now here I am bringing baby #5.  At that moment I remembered I had written a post about that chapter closing.  While not completely surprised I found myself crying again in the car, it still caught me off guard.

My heart finds itself in a constant battle of celebrating these amazing family milestones and broken over Sonzee never being able to be part of them.  Had she been able to bear weight maybe we could have modified the class?  Had she been able to sit maybe we could have had her do the circle exercises?  Had she been able to use her gait trainer when she was younger and in an efficient manner, maybe she could have run in a circle?  Maybe if she hadn't spent her earlier years in excruciating pain we might have learned she loved gymnastics?  No matter how many therapies or activities we have tried her in, it won't ever make up for the things that she has been unable to participate in. 

Lately, my heart has been in so much pain over where we are today.  A giant disaster of a circle that truly is never-ending but yet always seeming to start back up with pain, discomfort, sadness, and difficulties.  I do not understand how much more her little body can take and I do not understand why it has to be this way.  I can't even imagine what else could pop up, but I am sure I won't have to wonder too long because inevitably it will present its unwanted self.  Not surprisingly, but yet at a level of fascination with myself, I cannot believe how spot on I was so early on in this journey to assume all of these emotions would resurface, because they certainly always do.

The Mighty Contributor

Tuesday, August 6, 2019

Processing

It feels like it has been forever since I last sat down and allowed myself to take a deep breath.  I decided even though I am exhausted from our final drive home, the beginning of unpacking, and the fact that it is 1:44am, I wouldn't let myself go to sleep without writing a blog post.  So many thoughts popped in and out of my mind over the last couple of weeks, yet time didn't allow for me to devote more than the second to them, and I know I need to make them coherent and sort them out in and outside of my mind.

This summer has officially come to a close in terms of travel and play, albeit not so much in terms of Phoenix's 112-degree forecast.  I am not fully ready to reflect on the events of summer as a whole because for the first time in Sonzee's life I feel like this summer was not actually a summer.  I honestly feel in a way we were robbed of my expectations, and maybe that was my fault for even setting any.  That is what I hate about CDKL5, so many plans that don't come to fruition, in their place is the life that I have minimal say and control over, and for some reason, I am still unable to relinquish the reality of that concept.  Deep down I know that there is a reason for everything, that there is a purpose for everything that occurs to Sonzee and for all the experiences we have because of her, but closer to the surface it remains a constant struggle.

4.5 years in and I still cannot grasp why she needs to struggle for any potential "better good".  While I am so fortunate to those who have literally become like family to us, I wish it was not at our daughters' expenses.  There is no amount of life learning lessons or inspirational gain that should come at the hands of pain and suffering of Sonzee or any other child.  I still have moments, like right now where I wonder why her?  I still hate that this is her life and her reality.  I still hate having to act like I am okay with any of it because of occasional societal pressures.  I still cannot shake the pain and physical strangling feeling that has consumed my heart since first hearing and reading the letters CDKL5, and I am starting to understand that I don't think I ever will.


The Mighty Contributor

Monday, July 22, 2019

Stacking blocks

When my oldest was a toddler she had these rubber squeaking building blocks that she would play with.  She would take the blocks and build a tower high as she could before it would either tumble down to the floor or she got overly excited and decided kicking it down would be more fun.  Each time they fell she would squeal with excitement and then start the process all over again.  I can still envision her huge baby toothed smile while she was jumping up and down.  This morning her smiling face popped into my mind as I was thinking about how much this relates to Sonzee's milestones, more specifically her GI accomplishments, the main difference every time the tower falls there is no smiling face there to celebrate.

We spent years building tower after tower trying to find a solution to Sonzee's GI difficulties and pain.  Every time the reprieve would be short-lived and we were back to situating our building blocks into the perfect configuration to maybe reach some kind of success.  Finally, in December, after close to 3 years of being made aware of her struggles, it felt like our final tower was built.  Since then there have been a few occasions where a couple of blocks have fallen.  Every block that fell was replaced within a few days, maybe a week tops, but slowly the tower would resume its height and we would breathe in a sigh of relief.  It had been close to 6 months since the last time a few blocks fell from the top of the tower, so maybe my comfort in the situation was unfounded based on history, but since they say we are supposed to have hope,  we did. 

Over the past month, it seems like we have been traveling in a falling block zone.  It started with a single block falling, turned into 2-3, and now there is no proof there ever was a tower.  The base block is nowhere to be found, it too has lost its grounding and has completely disappeared.  We are back at square one, really below square one, everything has been erased, it is as if the tower was never built in the first place.  I feel defeated, I am angry and so incredibly sad.  I am in the place of wondering if this tower can actually be rebuilt or if our new tower will even include all the blocks we used in the first tower.  Everything is lost.  Everything is gone.  Everything has been erased, yet a tower needs to be rebuilt, but there is definitely no eager toddler awaiting the thrill of stacking the blocks waiting for them to eventually fall down.

The Mighty Contributor

Wednesday, July 17, 2019

Reset Button

The big kids are off at camp, little brother is on a walk with his babysitter, Sonzee is in her P Pod, Sam is in Phoenix, and I just finished vacuuming and doing a couple of loads of laundry.  The last 24 hours have been a complete whirlwind of experiences and emotions, scratch that, the last 5 days.  I feel like that is synonymous with life in general.  We spend all this time anticipating and preparing for a wedding, a family celebration, a big event in general and then when it happens some things go as planned, others don't, but after it is over you just want to plop onto a fluffy piece of furniture, let out an exasperated sigh and reflect on what just occurred.

Since 2016 when Sonzee received her first intestinal feeding tube we always had steps in place for what to do if the tube came out.  The first summer in NY with the NJ tube was so scary because it had just been placed, she was fresh off a 28 day hospitalization that had included TPN and left her stomach unable to be used, but at that time we were not even fully aware of the extent of her GI issues.  It was all new to us and we had limited experience with intestinal feeds in general.  We thankfully never needed the tube replaced during that summer, but we had our backup plan in place; to go to the hospital we initially attempted to go to this past Friday.  Every summer since, that was the plan on record, and every year we skirted by with no tube issues.  Thankfully all of the other summer hiccups had been easily handled at the local regional hospital or the urgent care clinic.  I suppose "luck" eventually runs out, and maybe that was why my gut was nagging at me as summer 2019 approached. 

Until yesterday I looked at the summer as a sort of escape, a place for us to go as a family and reset so we could take on the next school year and 11 months in general until we could again escape.  What is something that I have known since the beginning of life with Sonzee but for some reason always need some sort of harsh reminder is that there is no escape.  There is no putting a medically complex life on hold.  The challenges are always there, they will always be there, it doesn't matter that you planned to leave them back home, miles away, as if they didn't exist.  The only difference is that you have an extremely long yet amazingly beautiful view as you drive to attempt to sort through your emotions, to reflect on everything that is occurring, and to realize there is no way to plan a reset button.

The Mighty Contributor

Monday, July 15, 2019

There's always one

There is always that one picture that does me in.  Every. Single. Summer.  The one that I know is inevitably going to occur but I have forgotten over the year is going to be taken so it will always continue to catch me by surprise.  It is the one that makes me smile for a split second before my brain registers what I am looking at and what is missing, well actually more like who.  This is then followed by a dialogue that occurs silently within my mind about how nothing/no one is really missing and that it is just the (sad) reality of life.  Yet, my internal negotiation doesn't change the fact that the damn picture has still managed to pierce my heart.

I HATE after 4 years on this journey that these types of moments still occur.  More often than not I find myself in a state of numbness that only periodically allows this sort of real life pain awareness to seep inside.  Call it whatever you want, it is one hell of an amazing protective device, and personally, I prefer the numbness over the stabbing pain my heart feels when one of these moments creeps in, so I am glad they are only occasional.  What I dislike most is that it almost seems like my mind takes the picture completely out of context.  Where I should be looking at my oldest daughter, her best summer friend, and her little sister, standing on scooters posing for an adorable picture, my mind does not see Sonzee standing next to (who should be) her summer best friend.

I HATE these types of reminders of how old Sonzee is.  I HATE these types of reminders of what Sonzee is unable to do, of who she is unable to be, of how much of life she is missing out on.  I HATE that this picture that I should be printing and placing in a frame for my oldest daughter because it is such a great picture, takes the breath out of me every time I look at it.  I HATE that these types of reminders pop up randomly without notice and seem impossible to prevent.  I HATE that not only was she missing from the picture, but she was sitting at home miserable, unable to be outside.  I really do my best to not focus on what Sonzee isn't able to do, or doesn't do, or can't do, but sometimes life seems to get in the way.



The Mighty Contributor

Thursday, July 11, 2019

Good Luck

"Did you have testing done while you were pregnant?", "Did you know before?", "Was everything "fine during your pregnancy?"  95-100% of the time after someone meets Sonzee and we begin a conversation those or similar questions and/or comments are brought up.  Grandparents, soon to be parents, friends of pregnant mothers, young adults, inquisitive people, you name it, everyone wants to know.  My guess is people want to be told we knew and yes it can be prevented, but we must have made some choice to keep her. But the hard reality is, "Yes we did have testing, no we didn't know beforehand, yes, everything was fine while I was pregnant, and good luck."

"But if you had an amnio then you would have found out!"  "Good luck", I say "because no we wouldn't have, not with her type of mutation".  For those who respond that they had microarrays completed in utero for their unborn child, I say, "Good luck, Sonzee's microarray is normal".  "Good luck" to those who are under the misconception that genetic means Sam or I passed down the mutation because "yes we did have testing and no neither of us have a mutation on our CDKL5 gene, Sonzee's mutation is de novo-it's hers, it's random, and she's the only one in the world currently with it, good luck."


It is hard to comprehend the complexities of genetics.  It is hard to fathom that no matter how much prenatal preparation occurs, no one is exempt.  To those who don't think about the possibility of rare, "good luck, we never did either".  The truth is, CDKL5 and the approximately 7,000 other RARE genetic disorders that are currently known are rare, but not one person is immune and not one person is guaranteed that rare won't happen to their child, so I say, "good luck".


The Mighty Contributor

Monday, July 8, 2019

The middle

I went outside to walk my oldest daughter to her friends for a sleepover.  The weather was absolutely perfect.  The sun had disappeared from view, but the sky was still blue with a sliver of the moon visible and some greyish white clouds crossing by.  There was a slight breeze and the air smelled like the real version of the mountain breeze fragrances that you buy to attempt to replicate the real thing.  My first thought was that I was going to come back, grab my computer and sit outside, so after a successful drop-off, with my coffee in hand, I did just that.

I set up my chair in the same spot I had placed Sonzee's 4 hours earlier.  The same place that when I walked out of the house one-day last week I stumbled in my tracks as I watched two deer eat from the grass and couldn't believe how close they actually let me get to them.  If I turn my head to the right, beyond a not so tall tree and empty parking spaces there is a hill defined by large rocks at the bottom and topped with tall green trees that stretch upwards of at least 40 feet.  To the left is the grassy field which ends in green brush, more tall green trees, and power lines that mark the descent down another hill.  It's a quiet spot in terms of little car traffic but filled with various birds chirping.  It's the only place I don't actually loathe the sounds of their incessant conversations.

As I sat between the steep incline of the hill to my right and the abrupt descent of a hill to my right I reflected on how similar this specific location represents where we are on Sonzee's journey.  Cautiously we move on our semi angled flat surface carefully avoiding slipping down the hill on the left and avoiding the struggle of climbing the hill to the right.  We hope and pray to stay firmly in this spot.  The spot where the smells are crisp and clear, where the sounds are happy and wanted, where the unexpected albeit positive things come our way, and where the view from both the potential up and downhill situations look clear and beautiful yet equally uninviting.  It is the spot I don't ever want to leave,  the one I know we won't be able to stay in forever, but the one I always look forward to coming back to after the journey takes up and or down the hills.

The Mighty Contributor

Friday, July 5, 2019

Split second

Sometimes I feel like Sam and I part of grand jury spending hours deliberating making a life or death decision when it comes to Sonzee's care.  Partly because that is literally what we are doing, minus the whole being paid to sit on a jury component, and partly because we spend so long making sure we weigh the pros and cons of every possible solution to ensure we are making the best possible choice when it comes to Sonzee's life.  Then approximately every 2 months, give or take some time, it seems one split second of time rattles all the confidence we had placed on whatever decision it was we had made.  I wish I knew why my initial reaction is to second guess the decision vs just acknowledging this is simply the beast of CDKL5, but alas that is what occurs.

I wonder if it's because of the fear that occurs wondering if the solution we were hoping would last has in fact failed.  Or maybe it just simply feeling vulnerable because our choice was not correct. (I do know there isn't an actual manual to follow in regards to caring for a child with medical complexities and we do our best, but that doesn't mean I believe it all the time).  Or maybe the choice was the best choice for the time period that has passed but now we have to go back to the deliberation room and review all of our notes knowing we are even more limited this time in our potential band-aids.  Maybe it could just be a simple fix, but history has repetitively negated that idea, so that is shelved until all the above has been ruled out in my mind.

In the back of my mind, there is always this voice that pops in to say what happens when we have exhausted all of our options and nothing works?  What then?  What choice do we have at that point?  Is there going to be a time that we say we have done all we can do?  If so, then what?  Gosh even with a little over 4 years under our belts in some ways I feel like we just started this journey.  The weight of the past and fear of the future continue to get heavier and heavier as time goes on, yet instead of it lasting a split second, it seems to be never-ending.


The Mighty Contributor

Monday, July 1, 2019

I knew

I knew the day would come.  I thought about it numerous times during her first year of life.  I wondered when exactly the moment would happen, how it would occur, the situation I would find myself in.  I never had a clear image of what exactly would transpire, but I knew after so many encounters that one-day things would be vastly different. I knew there would come a day when the small talk surrounding a run in encounter with a "baby" in a stroller would yield a different response than "how cute", "oh, is she 1?", "what's her name?", "she is so pretty", "what pretty eyes", and/or some other similar but positive and smile exchanging encounter.  I wondered at what point it would occur, always fearful of the day it would happen, but then of course forgetting about the potential on the day that it did.

After all the years of hesitant exchanges standing next to her stroller, eager to just smile along and chuckle at whatever praising remark was made, the one time that I forgot it could occur, is of course when it did.  I knew she wouldn't be a baby forever, I knew she wouldn't be tiny forever, G-d knows she has enough tubes and medical interventions erasing the Failure to Thrive diagnosis as we speak.  I was never naive enough to think that she would always get positive head turns, but in the end, maybe I was.  I knew once she was bigger she would get noticed for her hand stereotypies and her abnormal flexibility.  I knew people would start to realize she wasn't a baby, but in the majority of ways, she really still is, and ironically the phrase "look at the pretty baby" that used to make me grit my teeth because she wasn't a baby, I wish would return.

I knew her growing up would eventually happen, but I didn't expect for the day to occur while walking down 68th Street in New York City.  I knew one day someone would act in a way that hurt me to my core, but I didn't expect it to be a man walking a cute Yorkie named PJ, who (I can only assume) had zero intention to break a mother's heart while he was out walking his friendly dog.  I knew one day it would be completely obvious that the little girl in the stroller with splatter colored framed glasses and a customized pacifier clip was not actually a baby, but I didn't expect the silence after responding to the question about her age to be so deafening and feel like an eternity was passing by.  I knew one day there would be no words to fill the awkwardness that filled the air.  Yet the thing about preparing for the future with a diagnosis like CDKL5 is that there really is no way you can, because no matter how many dress rehearsals you have; when the curtains lift and you find yourself center stage, it is never exactly how you anticipated it to occur.

The Mighty Contributor

Sonzee's Slideshow