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."

More than seizures

Today marks day 4 of CDKL5 awareness month.  It is a month I have been lucky enough to honor over the 3 years of Sonzee's life.  The entire month brings similar feelings to that of her diagnosis day; a mixture of gratitude for having an answer to the "why", and pain because of everything that comes with the 5 characters that don't go away when awareness month ends.  Historically, I spend each day of this month trying to balance the positives and negatives that have come with this diagnosis, not wanting to highlight only the bad but trying to give the weight of these characters their due justice.  The truth is while the hallmark of CDKL5 is early onset, difficult to control seizures, CDKL5 is more than just seizures.

Two years ago yesterday Sonzee was finally discharged from a 28 day hospital stay.  It was a discharge we were not sure would occur, and the experience left us jolted to the core.  It was during that stay that it was clear she would most likely never tolerate feeds into her stomach again, 2 years later and those thoughts are pretty much confirmed.  She is still fighting the same battle and we still have yet to figure out how to help her.  That sadly seems to be a recurring theme, and it weighs heavily on me as a mother.  My job is to not allow her to suffer, and CDKL5 makes that nearly impossible on every level.

Sonzee is 3 years and 3.5 months old, yet our 6 month old moves circles around her, almost literally.  She cannot sit, she cannot crawl, nor can she walk.  I am able to say those words without tears now, and we focus on what makes her happy, but the facts still tug at my heart.  I wish for her that she was able to sit, that she was able to crawl so she could get to toys or places she wants, and that she was able to functionally use her hands to request hugs when she wants.  I wish for her that her voice was not locked inside her unable to communicate her basic wants and needs.

I do not need a month to remind me of everything that having a CDKL5 mutation has taken from Sonzee or our family.  I live the effects every hour of every day, and when this dreaded deficiency takes her earthly vessel from us, it will continue to wreak its havoc on those of us who have fallen in love with her over the years.  What this month simply does is allow me to reflect on the significance this string of characters has on Sonzee and every child impacted and share the weight so that I do not have to carry it alone.

Mommy bloggers, Join me @ Top Mommy Blogs

When panic sets in

I was sitting at home this morning when the text message alert came through my phone.  It was from a close friend of mine.  Someone who I have gotten increasingly close with over the past 9 months, as our daughter's both have a CDKL5 mutation.  Our daughters' like all of the children affected by this merciless string of characters, vary greatly in skills and overall path they follow, yet as parents it always boils down to us having the same emotions and a level of understanding that only other mom's and dad's on this journey can relate to.   There was an urgency and panic in her text that was palpable even though texts can sometimes leave the reader uncertain, there was no uncertainty.   CDKL5 has a way about itself, it can take a child who is doing absolutely amazing (in the world of CDKL5) to death or close to it in a matter of moments, imminently without a warning.  How are we as parents supposed to cope?

It has become crystal clear in my 18 months as a member of the parent support group that it only takes a second for our world to be turned upside down.  For us specifically, I don't even need the parent reports of fellow CDKL5 siblings to know this, we HAVE lived this ourselves.  There is always a balance of celebration at the attainment of a "Sonzee-stone" along with potential fear of the skills loss.  The knowledge that the skills our children with a CDKL5 mutation achieve are not theirs to keep forever is sadly our reality, but yet there is always hope.  The hope of maintaining seizure control for as long as possible mixed with the reality of "refractory epilepsy" as a symptom of CDKL5 mutations.  The fear that even though our children might have a brief stint at seizure freedom, it only requires one to take their life.  It's suffocating.  It's heartbreaking.  It's impossible to live with, yet we have no choice.

My advice to my friend is obvious, "Don't focus on what might happen, just enjoy everything she is doing now".  I should really smack myself for even writing those words, I would internally roll my eyes at someone who would suggest that to me, and truthfully, I don't believe in these words myself.  There is no way to live this life without fear, yet there is no way to live with it.  Either way there is no winning.  Living in the moment, that is what all of us affected by CDKL5 or a similar type of genetic mutation or terminal illness must do; and we do just that each and every day.  Some days are easier than others.  There are days where the thoughts of the future leave us scared, numb, and paralyzed.  Then there are days where we just focus on the here and now because that is the only way to breathe.

There is no preparation to do once your child receives a diagnosis such as CDKL5.  There is no way to every fully accept everything that will be thrown our way.  I used to wonder if I would rather Sonzee never have seizure control and never gain skills because then I wouldn't have to worry about the day the seizures return or the day the skills disappear.  Our days of seizure freedom might not be as long as other children, and the goals Sonzee attains might not be as advanced or last as long, but I wouldn't give up the 52 days (non-consecutively) of her life she hasn't had to suffer at the hands of a seizure.  No matter what the future holds I have documented a ridiculous supply of pictures and videos to help me through whatever dark days might be ahead, and I will look at them with a huge smile on my face remembering just how happy she was during those moments.

And that is what gets me through the days when panic sets in.


Mommy bloggers, Join me @ Top Mommy Blogs

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.

Mommy bloggers, Join me @ Top Mommy Blogs

Some things do get easier

When your child receives a diagnosis such as one as involved as CDKL5 it is easy to get swept away in fears, doubts, and worry towards the future.  You immediately want to take the disorder by the horns and defeat it...there might even be a part of you that naively thinks you can.  You immediately go into "fix-it" mode.  Wrapping your head around the fact that fixing things is simply impossible is one of those concepts that is more challenging to "accept".  I can say for me at this point when I look toward the future I don't ever see myself being content with  not being able to do whatever I can to fix the effects of an incomplete CDKL5 gene, but I am learning that not everything needs to be "fixed".  

When Sonzee was first diagnosed everything to me about her future seemed to be equally depressing.  I would look at the older kids who also had the diagnosis and wonder if Sonzee would present with the same physical delays.  It was honestly really challenging to look at my 2-month-old baby and picture that her body would grow bigger, but her capabilities would remain the same as they were.  

As her journey continues to unfold I am less and less phased by her physical limitations but watching her having seizures....the seizures are for me by far the worst effect.  As I look toward the future, imagining her in an older form seizing uncontrollably makes my stomach to flips and flops.  I have no other way to describe the feeling other than just plain helplessness and sadness.  I can see how much 15 months of a diagnosis has changed my perspective and feelings and to be honest, it isn't all bad.

A year ago Sam and I took Sonzee to the CDKL5 clinic in Denver, Colorado.  We met other families and they all had much older children.  They were beautiful girls, quiet, content, and in wheelchairs.  There was one boy who was walking around and Sam was eager to learn more about him.  To be honest, we didn't find ourselves wanting to be around the other families, it was really difficult to take it all in.  It sounds so awful, but it was really challenging.  I honestly didn't even realize the psychological toll that it would take on us when I originally planned the visit.  Behind the closed doors during our visit both Sam and I were optimistic as the doctors told us to keep doing what we were doing with Sonzee because she was doing things that "other children with a CDKL5 diagnosis weren't doing".  We wondered if it was simply because Sonzee was the youngest diagnosed child and they didn't have children to compare to her at that age or if in fact, we had a rare gem in the world of CDKL5.  We left feeling a false sense of hope and with a false sense of confidence.  It wouldn't take us long to realize that Sonzee was just like every other child, and she wasn't going to be known in the CDKL5 world because of her extra special exemplary skills.

While it continues to be an inner struggle at times seeing pictures of children who also have a CDKL5 mutation complete milestones Sonzee isn't ready for, a year later I can say that things have actually gotten easier.  If I asked myself a year ago if I thought my mindset would be any different in regards to acceptance I would have told you "no, it won't get easier", but that isn't entirely true.  

On Sunday we found ourselves fortunate to meet with another little girl with a CDKL5 mutation.  Talk about becoming instant family friends (at least on our end).  As we spent time with her parents it was similar to seeing a childhood friend who you haven't seen in years, but instantly pick back up from where things were left off.  The hours flew by as we talked and let all of our children bond.  How special it was that our older children had other children who also have a sibling that has seizures, delays, and are different...but they all have a bond because they "get it".  I don't even know if they realize at their young ages how unique and special their relationship will be as they grow up.  It isn't even a doubt in my mind that they will remain in contact in some way.

Besides the amazing tips and information we took away from our visit, what stands out the most to me is how much I have actually begun to "accept" CDKL5.  **I don't know if full acceptance will ever occur, but this is a start.  The girls are almost exactly a year apart.  Her skills slightly more advanced than Sonzee but on the whole, they were very similar.  As I looked at Sonzee's CDKL5 sister, I could envision Sonzee in another year, it was at that moment that I realized I wasn't phased by what the future looked like.  This time, instead of being fearful about what Sonzee might not be doing I saw the possibilities of what she might be.  Here in front of us was a beautiful 2.5-year-old with a love for belly dancing scarves, who is smiley as can be, and communicates when she is upset and happy.  A happy little girl who is content with just hanging out and who enjoys being on her playmat.  I saw a glimpse into our potential near future and I could easily see Sonzee in her as if I was a pregnant woman looking at a newborn baby and imagining she was mine.  The same excitement and anticipation came over me as it would wondering what my other children will do when they turn a year older.  It was at this moment that I realized that while this journey as a whole is not going to be a walk in the park, there are definitely areas that will get easier.  There is a reason our motto is HOPE-LOVE-CURE, and I don't think I truly understand the meaning behind these words until yesterday, and I owe that to our new extended family in Blue Bell, Pennsylvania.

You are not alone

Everyone faces a struggle at some point within his or her life.  Whether it is socially, emotionally, or physically, no one has a life without being faced with a challenge.  No matter what you may be experiencing whether it is feelings of isolation, feelings of removal, and feelings of withdrawal or just simply feeling alone, it can lead to an overall feeling of helplessness.  You may feel like no one cares, as if no one understands, or that the burden of the weight of the world is yours alone hold.  Maybe you have a physical support system in place, maybe you have an online support group, or maybe you would just rather keep to yourself.  Please know, no matter which category you feel you fit, even if it is a category that I have not listed, YOU ARE NOT ALONE.

Believe it or not there is at least one other person out there going through a similar struggle.  They may not be handling the situation in the same way as you, but they can relate and they do understand.  While no two experiences are the same because multiple variables play a roll, someone has worn a pair of similar shoes.  There are those who will spend hours out of their day ensuring you do not have to endure your journey by yourself.  Do not be afraid to reach out to others.  Even if the person you choose to share your emotions with has not traveled your path, you can bet they have experienced their own types of pain that can be of value to you.  Let people in.  Share your story with at least one other person; it can be truly therapeutic in a manner you did not even know was possible.  In doing so you allow others to know that, they too are not alone and it can remove an invisible weight that you may not have even known you were holding.  Remember, YOU ARE NOT ALONE.

If you are one of those independent, strong willed, never lets anyone see you cry type of personality, needs to put on the brave face (<-hint...this would be me), YOU ARE NOT ALONE.  It is OKAY to cry, it is OKAY to break down, and it is OKAY to be a hot mess.  Most of us do all of those things in private regardless of whether we admit it or not, so again please know YOU ARE NOT ALONE.

Whether you are having a great day, a good day, a mediocre day, a bad day, or an awful day, please always remember YOU ARE NOT ALONE.

 

Mommy bloggers, Join me @ Top Mommy Blogs