What is CDKL5 and the purpose of Sonya's Story

Tuesday, April 25, 2017

Reminders

When you find yourself living a life with a special needs child, things that were once "unimaginable" become part of your daily routine, so much so, that your typical does not seem so atypical...to you.  Then almost randomly you have these "aha moments" where you realize just how not normal your life, your family's life and your child's life has become.  For me one of those series of "aha moments" came while preparing for and during our in-home district nursing evaluation to see if Sonzee qualified for nursing respite vs standard respite.  

It is not that I am at all shocked or surprised she qualified for the nursing part of respite.  I am more slapped into reality over the fact that her seizure log from January 25 includes 124 seizures and those are not counting the ones that happened while she was in the PEMU or in the last 16 hours.  It also does not include an exact count of spasms/multiple seizures that can happen during a 5-7-minute event, it is simply representing the number of episodes she has had in the past 3 months.  The fact that this is our normal, our "no big deal" does not faze me daily.  We do not bother with rescue medications because they will not do anything positive for her long term, they will only make her dependent, so our "comfort" is 15-21 minutes a day of her seizing.  I honestly do not even process that the seizures themselves could render lifeless, it is as if the entire concept of what a seizure actually is has fallen on deaf ears.  I am pretty sure this would be a proper time to insert the confused emoji face.

I think about the children and families of CDKL5 children who have lost their lives often, but I do not let it consume me or I would be unable to function.  Then suddenly, the news spreads that another child's body just could not compete with the challenges of a CDKL5 mutation and it becomes all too close to home.  The distance of that reality is no longer so far away and the weight of what Sonzee is dealing with on a daily basis is thrust into the spotlight.  Living with a CDKL5 mutation is not just dealing with developmental delays and seizures, these children are literally fighting just to survive daily.  I guess I forgot that?


I do not know what is the "safer" way of living this sort of life.  For me it has always been best to keep the fear and reality in the distance but aware that we are not immune, however, on the days these reminders float in it takes a lot of strength to remember to breathe.   


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Thursday, April 20, 2017

You'll get used to it

"You'll get used to it"

The words I heard at 3am a little over 2 years and a month ago when I first brought Sonzee into the ER.  I remember how angry that phrase made me and how badly I wanted to punch the nurse who said them.  While it wasn't the most ideal time for her to say those words aloud, it turned out she was right.

Sonzee is back in surgery.  They called about 5 minutes ago to say that her doctor began the procedure.  It should be approximately 90 minutes until she is done and we get to see her.  I am sitting in my comfort spot with my "usual" PCH breakfast, a salted caramel oatmeal and a coffee, and I am blogging. This is my normal and I am used to it.  There shouldn't be anything routine about your child going under anesthesia but then again a life with CDKL5 shouldn't be either, yet this is life.

I am not even phased anymore about these types of procedures, they carry risks I don't even listen to because if I entertained them I wouldn't be able to breathe.  I don't even ask to hear statistics and if they are mentioned I honestly don't listen, because let's face it, when you become a statistic, what does it matter anymore?  I prefer to just ride out this journey without being fogged by the "chances are" because Sonzee's odds are completely her own, and I have learned if there is a small chance of nothing, with her it can become something; and if there is a small chance of something it can become nothing.

So here I am 2 years later and I want to go back to that nurse and tell her that her delivery was a smidgen off, but she was right, I will get used to it.



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Sunday, April 16, 2017

Happy Diagnosis Day?

Happy Diagnosis Day?  I am typically a fan of celebrating every inch stone, milestone, Sonzee-stone, what have you, so it only seems fitting to somehow adorn our house with balloons and give thanks to CDKL5 being placed into our lives two years ago today.  Since I am not quite ready for that after only two years, I suppose the all-out celebration will have to be placed on a brief hold and reconsidered next year (or the year after?).  Regardless, today marks an important day in our family's life, and so today I am going to explain to every person who reads this blog post and for those of you who share the information written on this blog that CDKL5 does NOT mean your child has a worthless, unmeaningful, depressing, insert any negative connotation type of life.

CDKL5 has brought many challenges for Sonzee and our family.  The diagnosis made our worst fears become a reality in a matter of seconds.  However, two years in and our daughter is still alive and has not given up, so we will not either.  There are many people who pity the life that Sonzee lives.  There are those who decide that her quality of life is not "quality".  There are those who think she would be or that we would be better off without her here.  Yes, having a CDKL5 mutation is not ideal, no, I would never have chosen for my child to have a CDKL5 mutation, but this is how she was given to us and we love her the way she is.  She may be a little girl trapped inside her body, but she is smart and she is aware and she knows what is going on (it only takes one minute of actually being present with her to know all of this).

I pity people who think that having a disability defines a person.  I actually despise people who think that because a child is nonverbal that means they have no idea what is going on.  I feel sorry for people who do not take the time to get to know the child and learn to communicate with them in a different manner.  Every person has a story to tell and it may not be told verbally, and if you do not give a person the chance to tell it in his/her own way, that is not reflective of their cognitive capabilities.  If you meet a child or a person with CDKL5 I challenge you to spend time really getting to know him/her, not just petting their heads, or looking through their eyes.  I promise you will see the light in their eyes and their individual personality shine through, along with their obvious likes and dislikes made abundantly clear.

Having a CDKL5 diagnosis for Sonzee did not give us the answers we wanted, it did not give us closure and it did not give us any specific path to take.  It continues to give us speedbumps, hurdles, and roadblocks that we must creatively maneuver around.  It brings many nights of tears and a lifetime of fears as a parent.  CDKL5 means a life of challenges for Sonzee and a life of defending her capabilities to others who are too blind and closeminded to see them.  CDKL5 has given me various new perspectives, many great friendships, and an extended family that I will forever be grateful for. 

After only two years, the diagnosis is still too raw for me to embrace with open arms, but the strength, perseverance, and bearlike qualities it has given to Sonzee and honestly every other person in our immediate family is helping me to accept it a little more every day.  


So... I guess happy CDKL5 diagnosis day?


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Friday, April 14, 2017

Sisters...

My oldest daughter was born to be a big sister.  I mean this in the sense that she has this caring and special soul that was meant to be the oldest of many siblings.  Sam and I have been fortunate to help her fulfil that mission of hers; although the responsibilities she has taken on at an early age were not exactly the ones I would have envisioned when she made us parents.  She absolutely loves to dote on her brother and sisters, she loves to be in charge, she loves to interact with them, and she loves to help them explore the world in whatever is the best way for each of them.  Watching her with Sonzee has been the most touching, as they truly have a unique and special bond, however, I would be lying if I did not feel like she has been gipped in a small sense.

When she became a big sister for the first time she had barely turned 18 months old.  She never handled the transition with any negativity and loved to hold her brother and play with him.  I really do not think she remembers or really knows her life without him in it, and so they have this special tag team/super hero bond with one another.  They fight like cats and dogs and the next second are hugging and making up.  By the time our 3rd came into the world, she was a few months into being a 3-year-old.  Again, she welcomed her sister with love, wanted to hold her, and pick out her clothing and love on her, but being that she was 3, she was still too young to want to pick her up and drag her around the house like a doll.  Then, we had Sonzee and she had just turned 5.  She could not be more excited that she now had another sister, one who she could control like a little puppet, and one that she wanted to be carrying around the house like a doll. ** 

As a 5-year-old she wanted more out of her big sister roll, and she wanted to be like "all the other big sisters", like all her friends she got to see being big sisters.  She wanted to be able to just pick up her little sister off the floor and carry her around the house and plop her down in her room to play house.  She wanted to crawl around on all fours with her and let  her go tell her where she wanted to go.  As she got older she wanted to hold her hand as she started to take her first steps and lead her around the house (who knows-maybe that will happen one day down the road).  There are so many big sister things that she does with Sonzee, but it is just not the same.  

Over the first two days of the Passover holiday, we went to our friends in a nearby city.  Their youngest daughter is 14 months and is in that cowgirl bended knee, unsteady but excited phase of mastering walking.  For two days, our oldest held her hand and helped her around the house.  For two days when their daughter climbed into a stroller or toy car and could not get out, our oldest was right there to help her.  These two girls were in heaven with one another.  It made me so happy that a need was being filled for both of them.  However, it broke my heart that now at 7, my oldest does not have a healthy baby sibling.  There are always tubes on Sonzee, and there is so much support needed to lift her.  Our oldest while extremely strong and eager is unable to do more than straddle around her and lift her up for a hug.  While she sisters her in an entirely amazing manner, as a mother, it just crushes me that she cannot be like most of her big sister friends.  


I know deep down Sonzee was meant to be her little sister, and they were meant to be "twin girls", but I do wish for my oldest that Sonzee would give her a little bit more of that normal big sister role.


**Even if Sonzee didn't have CDKL5, I totally would not have allowed her to carry her the way she wanted-just saying

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Thursday, April 6, 2017

10 days

Today marks 10 days until the 2 year anniversary of CDKL5 Diagnosis Day.  I am blown away at the mere fact that it has been TWO entire years since we first learned about CDKL5.  I do not know if it is more surprising to myself that we will have survived two full years of this unexpected journey or that it is still just as hard to make it through each day.  If I had been asked on that day where I would see myself or Sonzee at this point, I know I would not have been correct with my reply.  While I was filled with fears of the future, I could not have fathomed any of the experiences we have endured over the past two years.  It is practically impossible to even guess how this journey will play out unless you are actually living it.

Two years.  Approximately 730 days since I sat in a small office at the PCH Northwest valley specialty and outpatient center, and was handed a piece of paper that "explained" why Sonzee was having seizures, but not telling us how to stop them.  We were given a reason for her (soon to be) delays, her cortical vision impairment, her (soon to be) gastrointestinal issues, but again no way to prevent them, stop them, or help them from occurring.  We were given a string of characters that essentially sums up the cause of her challenges, but does nothing else to help us help her.  In 10 days, it will be two years, and we are no better off than we were on the day before we were told her results were in.  Yet here we are "celebrating" two years since her "diagnosis day".


I have always felt relieved that there was never someone or something to hold responsible for Sonzee's CDKL5 mutation, it helps to remove a lot of the anger.  However, I think one of the best things that come from this anniversary is that I can spend the days leading up to it, and the day of, releasing what bits of anger, hatred, and utter dismay for CDKL5 I have, so I can move on and then go back to dealing with this life.  I remember in the 24 hours from the time we knew results came back positive for a cause to Sonzee's seizures I felt it did not matter what we were told because "at least we would know", "at least we would have an answer".  Now as I sit here looking back over the last two years and to the future that lies ahead, I must ask myself, were we/are we really any better off having an answer?


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