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.

CDKL5 Family

Yesterday was Rare disease day and one of Sonzee's CDKL5 sibling's mother created this amazing slide show of some of our kiddos.  I saw it posted in the afternoon on our parent page, but did not watch it.  I saw I was tagged in something on my wall in the evening, and when I saw it was the video I decided to wait until later on to sit down and watch it.  I knew from the minute I hit play that it was going to be something that would cause tears to well up in my eyes.  To begin with, I have zero ability to control any of my emotions at night, I am beyond exhausted to the point where my eyes actually hurt and can hardly remain open, and it is just what happens to me when it comes to slide shows.  At 10:23pm I decided to press play and let me tell you, my intuition about the tears was spot on, and as I listened to the lyrics paired with all of the pictures, I had such chills run through my body.

She could not have picked a better song to accompany the faces of our beautiful children and to solidify how we have become a family simply because our children brought each and every one of us together.  We have others who "get us", who "understand" on a level that honestly no one else possibly can, and who are there for us on days we need to randomly vent about insurance, celebrate the inchstones, or cry with during the more devastating and challenging times. 

The day Sonzee received her diagnosis I went to the Internet and reached out to anyone that popped up in the search results of "CDKL5".  We were given a 5 character string that answered the easy questions, the why she wasn't developing typically or why she was seizing.  But the real questions were answered and are still being answered by the parents of the faces in the video.  The same day we were given a piece of a paper that said "CDKL5" was also the day we were given an entire extended family.  There is a connection between us all that has no adequate words to give it justice and no matter where any of our children's stories take us, I hope every parent with a child diagnosed with CDKL5 knows to "Just stay strong, cause you know I'm here for you."

Conference 2018

This weekend is the Biennial CDKL5 conference taking place in Denver, Colorado.  From the looks of my Facebook feed and the parent support page, the majority of our CDKL5 family will be present.  This is the second conference to take place since we have known of Sonzee's diagnosis and the second conference we will miss.  The obvious reason is because the weekend has coincided with our second weekend in New York both times, but if I am honest, the more psychological reasoning is a bit deeper in nature.

I would be lying if I said I wasn't a bit envious of everyone who is there.  A part of me that is sitting here in New York aching to meet all of my virtual family in person and to meet the children and siblings who went with their families.  There is a big part of me who would love Sonzee to be around children who are the most like her, just in case there are times she may feel like she is the "only one".  There is a piece of me wondering if I went if this would be the mom group that I would finally feel like I fit in most with.

Despite my envy of those at the conference, there is a significant portion of me that is not ready to be in the room with so many parents whose children also suffer from the effects of a CDKL5 deficiency.  I cannot physically see so many impacted children, in what would feel to me, a small confined space.  It breaks my heart that this is all of our reality, that such a debilitating deficiency exists.  I just will not ever understand and maybe avoidance is my way of dealing, because I realize more and more every day, I am still unable, incapable, and unwilling to fully accept the diagnosis. 

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Do not want...

Between Christmas Eve and Christmas as I scrolled through my Facebook news feed I was met with 100's of sweet family pajama pictures.  I absolutely love watching my friends’ families change and grow over the years; each picture I see brings a smile to my face and for a moment I wonder how on earth time has flown by so quickly.  So many of the pictures were posted in our CDKL5 support page and while I may not personally know these families, I know more about them than some of my closest friends' children.  They posted their pictures with a blurb, "Wishing our CDKL5 family a Merry Christmas" or "From our CDKL5 family to yours..." thrown into the mix were those with well wishes to the families in the hospitals, pictures of her CDKL5 siblings on various breathing equipment helping them to survive their colds and infections.  I was nursing little man and Sonzee was in her Rifton chair participating in her typical hand stereotypies, making her noises that express she is not exactly comfortable and the tears filled my eyes.

I am so grateful for so many of the parents who have become more than just people on the Internet.  I am so thankful there is a place to go that has parents who get it in a manner that no one can unless they have a child who has a CDKL5 mutation.  It is a place that when someone types "I am so sorry you are going through this", you know they aren't just words and that they understand the depths of whatever the current struggle is.  I truly am appreciative of our CDKL5 family, but honestly, I HATE that we are part of this family.  I DO NOT want to understand anything CDKL5.  I DO NOT want to know about seizures and the side effects from being on anti-epileptic drugs.  I DO NOT want to witness so much pain, grief, and sadness.  I DO NOT want to HAVE to celebrate inch-stones.  I DO NOT want to know family support groups like CDKL5 even exist.

On December 15, 2010 on the "on this day" memories page on Facebook was a status I wrote that said, "I know G-d only gives people what they can handle, but some things no one should have to handle".  At the time I could not have predicted how true my own words would circle back to express my current disposition in such an exact manner.  I know this journey was given to Sonzee and our family for a(n) (unknown) reason.  I have to truly believe I can handle it in its entirety, but personally, I feel this is just one of those "life experiences" that no one should know anything about.

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Fall

We are officially a little over a month into the fall season.  Earlier sunsets, leaves changing color and air temperatures are becoming cooler.  Pumpkin spiced lattes and various apple-flavored items have taken over every menu.  October has almost concluded, Halloween is around the corner, then Thanksgiving, and in a blink of an eye the holiday season will upon us.  You can feel the joy in the air, the eagerness, and anticipation of holiday shopping, but scrolling through our CDKL5 parent support page things are not the same.  Fall to me is the season where the fear of the unpredictable course of CDKL5 starts to say, "beware".

Last fall and winter were by far the worst seasons for many families in our CDKL5 community.  Fall is when the health of many of our children starts to change.  It is when illnesses run rampant and that "simple sniffle" and "common cold" become deadly for many of our children.  As the days pass, more parents of the children in our CDKL5 family are asking for prayers as their child is being transported to the hospital for increased seizure activity, lethargy, and health issues in general.  It is the season (for me) that I wait with baited breath to see which family will become part of the elite group that no one wants to join.  I am not naive to think it will not be us, but like the rest of our extended CDKL5 family, we pray this year we will be spared.

It is morbid, yes, but for families with medically complex and fragile children it is our reality.  I am not by any means consumed with these thoughts 24/7, but I cannot lie and pretend that I am not slightly panicking on the inside.  I cannot say that with Sonzee's complete 180 degree turn in the past week that I am not haunted with the thoughts that I am missing something.  A curse of CDKL5 is how our warrior children can present so well but be so broken on the inside.  I fear what I could be missing.  In 95% of life staying simple is a pathway to success, but when dealing with CDKL5 nothing is ever simple.

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10%

Almost 18 months ago, our little Sonzee bear opened our world to all things CDKL5.  While approximately 90% of our exposure has been dreary, depressing, heart and gut wrenching, stressful, scary, and undesirable, there have been times along the way (10%ish) that have brought such extreme positive emotions that they are difficult to express.  Others who are on a parallel journey to ours with CDKL5 or another medical challenge might agree with me.

As you embark on this new life in a direction that was completely unexpected from anything you could have ever fathomed, the outside world starts to close in around you.  I hope that you have fantastic support from friends and family, but to be honest, there is no way they can truly understand your position.  They can offer you an ear to listen, a hug when you need it, and words of encouragement, but nothing replaces the support and camaraderie you find in the parents that are journeying right along with you.

Sam and I have both formed many online relationships with the parents we have "met" in our online CDKL5 support group.  We have both been lucky enough to meet different moms and dads over the past year and a half.  Similar to being a mom in general and having friends who are mom's "who get it", I cannot imagine being on this journey without having at least one other parent who truly understands what it is like to be in our situation.  Of course just like parenting in general, there are variations to each child's story, but to have others who have been faced with having to make similar decisions, makes the impossible bearable.  

I am so fortunate to each and every person who is on this journey with us, whether you are friend, or family, whether you live near or far, regardless if we have ever met in person or I see you often.  However, there will always be a special unbreakable bond with all of you who are in this journey because your child has a CDKL5 mutation and to all of you, thank you for making 10% of this journey absolutely incredible.

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Warnings

When you study a specific subject matter for a lengthy amount of time, you become extremely knowledgeable on that topic.  The same can be said in regards to dealing with certain situations for an increasing length of time; you become so well versed on that specific subject matter that you know its ins and outs.  When you spend your days caring for a child who has a specific genetic condition, even without any prior formal medical training, over time, you become an expert in this specific field.  That is why from the very beginning of this journey when other parents in the CDKL5 parent support group shared their experiences with seizure treatments, the best types of therapies, vaccinations, overall health difficulties, etc., we have listened and we have trusted.  

Every wobbly step Sam and I have taken on this journey has been done while holding the virtual hands of other parents with kiddos with CDKL5.  All of these parents love Sonzee as much as we do.  They want only the best for her.  They share their experiences both successful and those that turned out unfavorable for us to use as tools for guidance.  The successes they share to not only instill hope, but also with an extreme desire that this specific recommendation might result with the same positive outcome for Sonzee.  They share the unfortunate experiences not to take away hope, but more as a warning; a message to keep in the back of our heads that says, "Hey, this could happen" or "be sure to keep a lookout for....”   

As we all know there is no specific cookie cutter route for dealing with all of the situations that could potentially arise while having a child who has a CDKL5 mutation.  Each child has his/her own specific path to take, dealing with his/her health and developmental obstacles.  There are certain key elements that are present in the majority of the kiddos, but how each child responds to specific treatments, therapies, vaccinations, etc. varies.  The only option we have is to take the advice of other parents, combine it with the information shared from our medical professionals, follow our wavering instincts, and simply gamble.

I personally am not a fan of gambling, it is not a thrill of mine.  Maybe it is because the negative feelings of losing outweigh any potential feeling of joy that could occur if I were to win.  Maybe it is because I am not an inherently lucky person and I figure with the odds against me that there is no point.  No matter the possible reasons as to why, I just really dislike gambling.  This is an extremely difficult thing to dislike when essentially EVERY decision we will ever have to make for Sonze is based off some sort of gamble.  A gamble that no matter what the result is essentially life changing in all interpretations of that term.  From the very beginning, we have lived with only seeing the consequences of our choices in Hindsight.  

These past three weeks we have seen the consequences of our choices for Sonzee play out in a manner that has left me way down at the bottom of the coaster.  I do not and cannot regret any of the decisions we have made, I know we are only doing our best with the situation we have been given.  HOWEVER that does not change the guilt, anger, and sadness that follows when you see your child suffer based on the decisions you made with the main goal being to help her.  It is so hard to say if her current predicament is a result of the ketogenic diet, the gtube placement, the high dose steroids, or a combination of all of the above.  Was this issue inevitable regardless of any decision we made just because of her specific body and the effects of her specific CDKL5 mutation?  Regardless of the cause, I cannot say we were not warned.

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Parenting is hard

There was a recent situation in our parent support group that has been on my mind over the past week.  It did not deal directly with Sonzee or myself, however, it was one of those emotional, electrically charged conversations that sends people into a tizzy.  While it would not be appropriate to discuss the nature of the topic itself, I feel almost obligated to touch on the topic of parenting and offering support.  I have been compartmentalizing my thoughts the last couple of days, attempting to sort them out while waiting for the post to begin writing itself in my head.  As usual I have been a bit caught up in how to accurately articulate my thoughts, however, tonight when I sat down in front of the computer I eventually found the words to convey a message.

No one knows everything about every situation.  I personally offer a window of our life with Sonzee, but that is just what it is, a window, a snapshot.  No one knows exactly what goes on here unless they have a camera set up within my house and have a live feed (complete with audio) that they are continuously watching.  In my blog I share my feelings as openly as possible, but I assure you there is more that is left to your imagination.  I can paint a picture with my words, but you will interpret my writings in a way that most benefits you. There is nothing wrong with that, but when you walk away and close the computer and return to your family and your life, our life with Sonzee is still being written.  When I create the words that you read on your screen they are carefully chosen.  I can suggest by my words what tone I wish the post to take, but there are times that a post is happy simply because I want to believe that the situation I am writing about will be.  I sometimes am so burdened by the weight of a situation that I cannot possibly put a happy twist on it and those are my more "depressing" posts.  No matter what, there are days when even though you have a glimpse into our life by viewing the adorable pictures I post on Facebook , you do not have the entire picture.

After I publish my posts I receive emails, comments, messages, phone calls, etc. offering words of encouragement, offering support, offering ideas of how to possibly deal with our situation.  They are always appreciated, they are always read, they are always considered.  You may see me put those thoughts, comments, concerns, etc. into action, you may not.  You may disagree with my style of parenting, you may think you would do things differently, and you very well might if you were in our exact situation.  That is perfectly fine, that would be your right to do what YOU felt was best for YOUR child if you were in the same situation.

Emotions can fly really high when it comes to children and parenting in general.  It is because of that basic fact that you should never feel it is acceptable to insult, berate, or question anyone's parenting.  You might think your choice is right and that you would make a better parent to the child who's parenting you are questioning.  It is always EASY to say what you "would do if...", but the truth is, until it happens it is all projection.  It is what you think you would do.  It is highly possible that you would find yourself surprised at some of the decisions you might end up making if you found yourself in another family's exact situation.  If you ever find yourself in a similar situation to a person seeking support and you would not follow the same path they have chosen, then by all means you can disagree, you can make a different choice; but that doesn't make your choice better, that doesn't make you right, and that certainly doesn't make the other parent wrong.  

When you offer someone support that does not mean you agree with any or all of their parental decisions.  When you offer support that does not mean you would do exactly what they are choosing to do.  When you offer a person support it simply means you are acknowledging that this person is in a less than ideal situation, it means you want them to know they are not alone as they travel down an undesirable path.  When you offer support you may offer suggestions that could possibly offer comfort and or compassion, however you do not know how the receiving end will interpret your words.  When you offer support you might find yourself sharing a similar experience you have found yourself or loved one in and you may share that in your specific case you tried XYZ and the situation was resolved.  If you are the type of person to make recommendations please acknowledge that just because you offered a solution does not mean it is viable in this person's situation.  If you offer a solution it does not mean that if the person does not execute the exact plan you are proposing that this person is a bad parent.

When you offer someone support you should ask yourself what type of support is this person seeking?  Are they looking for a solution or are they simply just wanting you to hold their hand as they walk a pebbled path?   You should ask yourself if your words will be perceived as supportive and if you were this person would you want these words spoken to you?  Will your words be a crutch to help this person stand, will your words actually help them out of the darkness, will your words be beneficial to them, will your words actually provide support?

Parenting is hard.  You should never feel you will do it better with someone else's child.  You are entitled to your feelings.  You are entitled to your thoughts.  However, you do not know the whole story, no outsider knows the entire story.  If you were worthy enough to be given a glance into a personal situation then take the information and process it in a way that you feel appropriate.  If you are concerned then you should privately reach out in an attempt to gain clarity, but know that you are not owed such clarity, you are not owed an explanation of any kind.  Parenting is hard and until you are living in the exact situation you have no right to act like you would do better nor pass judgement.
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Is it better?

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

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

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

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

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

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