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?

Mommy bloggers, Join me @ Top Mommy Blogs

Over thinking

When it comes to little bear there are few items that tend to fall in the "treat this as a typical baby" category.  Since Sonzee entered our lives, the decisions we have had to make have required an intense amount of deliberation and reevaluation to ensure the best answer was reached.  The topics tend to revolve around medications, feeding, pretty much everything that would involve keeping a child alive and giving her the best chance at living healthily.  Now that thankfully she is growing and thriving, we are actually being faced with the more typical baby/toddler dilemmas.  In turn, I recently realized (as in yesterday) that due to this way of thinking that we have been forced into, I still treat each item regardless of its importance in the same manner.

One of the more challenging things for me has been how I treat Sonzee as far as her cognitive capabilities.  Her body size and what she is capable of expressively has always been significantly younger than what her actual age is.  To give you a good idea, if I had to give her physical capabilities a respective age, I would say she is around 3-4 months old.  This is tricky on my brain, as I have to remember that she is actually 18 months old, and if you asked me what her cognitive age is, I would say it is definitely close if not right around 18 months old.  I know she understands what we say, and I know her challenges come from trying to express that to us.  She may not be able to control her body in the manner she wishes, but she knows what she wants and what she does not want and she does very typical 18-month-old things.

My problem is that because of this challenge I tend to overthink everything I do when it comes to her instead of treating her like I would if she were a typical 18 month old.  It is so hard for me to give her a consequence for her actions because what if I am wrong?  What if she doesn't understand when I think she does?  She demonstrates daily what she understands.  Yesterday specifically she was lying on her tummy, I referred to her tushy, and she wiggled it.  If I talk about her feet, she will attempt to grab for them.  I think this one of those gray areas of special needs parenting that I am going to need finagle my way through.  The best part of this...it is no different from being a parent of a typical kiddo.

Mommy bloggers, Join me @ Top Mommy Blogs

Never judge a book

If you look at the Sonze what you will see is a baby.  If you look at her while she is in the newborn to 6 month music class, you would have no idea that she does not technically belong.  She is at least 6 months older than most of the kiddos yet she looks smaller than the majority of them.  She does not have a mouth filled with teeth; she is just now finally getting her first tooth.  She does not sit on her own or hold onto toys, and she hardly raises her head while on tummy time for more than 5 seconds.  When people look at Sonzee and then ask me how old my baby is, there is definitely a moment of silence and shock after my reply.  Based purely off looks and outward presentation, the bear can easily be misjudged.

I am guilty of falling for the misrepresentation myself.  I purposefully changed out all of her clothing to only have 12 month or 12-18 months so I would not keep "forgetting" she is not 6 months old.  I honestly do not care if the pants have to be rolled or if the shirt is falling off her shoulders...it is just easier for me mentally to see her in age appropriate clothing.  I can be thrown off when I lay her down and she just rolls over and immediately sucks her thumb.  We all know a typical one-year-old does so much more physically and expressively, that combined with her small stature it can make us all think there is nothing more than just a young baby in our presence.

However, we would be wrong.

Sonzee is unable to coordinate her muscle movements the way they need to be in order for her to achieve physical achievements.  She is also unable to coordinate her oral structures so they can produce sounds and words appropriately.  Her eyes have a similar deficit in the fact that they are unable to communicate appropriately with her brain in order for her to see objects appropriately.  To sound technical, Sonzee suffers from global apraxia.  This is not the only deficit she is dealing with, but it is one that negatively affects her significantly.  What can be confusing when children present with a form (or all forms) of apraxia, is that it can be assumed they do not understand.    

However, that would be wrong. 

Sonzee understands.  If I give her ample time, she responds to me in different ways.  She lets me know her likes and dislikes.  She lets me know when she is happy and sad.  She lets me know when she wants to do more of an activity or she wants to do less.  Trapped inside her little adorable body is a Sonzee Bear communicating with me and letting me know she understands.  I get so excited when she shows me that she is present, that she is awake inside.  When she closes her eyes before she is put underwater at swim.  When we tell her "clap, clap" and we see her try to move her hands together, even if there is no coordination and to a bystander it looks like she is not doing anything remotely looking like a clap.  When I say, "here is miss Holly", and we both do a double take because we could swear she tried to reach out for her.  When someone she loves enters a room and she hears his/her voice and she makes a sound or moves her body excitedly.  When she is lying down and we say "kick, aba", and she kicks Sam in the face multiple times.  Her little personality is adorable, it is shining, and it is there!    

It can be easy to be caught up in the moment and forget that my "baby" is capable than so much more than how she physically presents.  It is much easier to simply judge a book by its cover.  Although I am getting to the point where I really have to watch what I say around her; it would be really uncomfortable for us all if her first and only word ends up being a profanity.  However, that would be a really awesome conversational piece.   

Mommy bloggers, Join me @ Top Mommy Blogs