Sonzee's Spa

Yesterday was one of those days that was strictly driven by an excess of adrenalin.  It will certainly take some time to fully decompress.  It was a day full of abundant smiles, an overflow of happy emotions, and a couple of moments of hidden happy tears.  It was a day that you can only dream of experiencing but honestly as a parent you never actually dream of happening to your family.  Forget when the reality of it all sneaks up on you much like the situation that brought you to the same point did in the first place.  It is one thing when you tell your children to close their eyes on their birthday and "make a wish" while blowing out their candles, but when you dream up a wish that you know will bring an immense amount of joy to every remaining day of your 3.5 year old daughter's life from this point forward (no matter how many more there will be) it hits you like a ton of bricks when it comes to fruition.

The sheer magnitude of yesterday is almost too much to actually comprehend.  There is a 22,450lb aquatic training vessel sitting on a slab of concrete in our backyard.  Typing those words brings tears to my eyes and a lump in my throat.  I did not even process that we have a child who qualified for a "Make a Wish", and now I cannot process that when I look into our backyard there is now "Sonzee's Spa".  Much like the day we were handed a packet about epilepsy and told to take our then 5.5-week-old daughter, who was still having at least 12 seizures a day while on medication, home from the hospital, Sam and I felt completely overwhelmed with the spa, the spa manual, and the chemical routine we were given.  

I wonder how it is supposed to feel when you have a "Wish Kid".  We know the reality of having a medically complex child.  Nothing has changed in a day, but oddly after yesterday it weighs a bit heavier on my shoulders.  If I am honest every day that passes by I get a little more scared about how many that means we might have left.  I choose to keep these thoughts in the recesses of my mind, yet answer honestly when asked about her prognosis by others.  I know there are different philosophies of how best to "handle" this reality, and every parent who finds him or herself in this position has their individual way they feel is best.  For me it is to acknowledge the reality but not become suffocated.  I will compare my thoughts to the brown water in Sonzee's Spa.  Yesterday the water was as dark brown as possible, but the chemicals will slowly work amazing magic and by next week our little mermaid will find herself enjoying daily swims.  The threat of the water going brown will always remain, but we will do our best to keep it as clear as possible so she can enjoy herself as much as possible.  Yesterday the reality of what it means that my child is a "Wish Kid" hit me hard, but by next week the harshness will dissipate and left behind will be the same slight nagging presence that we have felt since April of 2015.

There really is no clear way to express the thoughts going on in my mind.  We will forever be grateful to Marquis spa's, Stafford Tower Crane, Make a Wish Arizona, all of our friends and family that were present with us virtually and in person, and everyone that played a role in making Sonzee's Spa become a reality.  

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.

Sonzee's Adventure List: Letter to President Obama

**This letter was sent to President Obama...I wonder if he will reply...**

Dear Mr. President,

My name is Sonya Ahava Zaila, but I am better known as Sonzee Bear.  I am a 15-month-old little girl from Phoenix, Arizona who has a rare genetic mutation known as CDKL5.  My purpose in writing to you is to help raise awareness of CDKL5 and to introduce you to my story www.sonyasstory.com.  You can also follow my progress on Facebook at www.facebook.com/smiles4sonya.  I am writing to you today to complete a bucket list item of making sure each President of the United States becomes aware of CDKL5 from this point forward. 

CDKL5 is a rare X-linked genetic disorder that results in early onset, difficult to control seizures, and severe neuro-developmental impairment.  It is an orphan disorder; however, more children are being diagnosed as awareness of CDKL5 spreads.  CDKL5 stands for cyclin-dependent kinase-like 5, and is located on the X chromosome.  The letters are an abbreviation of the scientific name of the gene that describes what it does.

The CDKL5 gene provides instructions for making a protein that is essential for normal brain development.  Although little is known about the protein's function, it may play a role in regulating the activity of other genes.  The CDKL5 protein acts as a kinase, which is an enzyme that changes the activity of other proteins by adding oxygen and phosphate atoms (a phosphate group) at specific positions.  Researchers have not yet determined which proteins the CDKL5 protein targets.

Most children affected by CDKL5 suffer from seizures that begin in the first few months of life.  Most cannot walk, talk, or feed themselves, and many are confined wheelchairs, dependent on others for everything.  Many also suffer with scoliosis, visual impairment, sensory issues, and various gastrointestinal difficulties.

CDKL5 mutations have been found in children diagnosed with Infantile Spasms, West Syndrome, Lennox-Gastaut, Rett Syndrome, cerebral palsy, and autism.  However, it is important to note that scientists and doctors do not know what causes CDKL5 mutations or the full spectrum of CDKL5 disorders.  It is likely that there are many people affected by CDKL5 who have mild symptoms and no seizures.  With continued research and awareness of CDKL5, there is hope to build a more comprehensive understanding of the spectrum of this disorder, and begin the search for a desperately needed cure.

Thank you for taking the time to learn about CDKL5 and I hope you follow my story.

Love,

Sonzee Bear

Please visit www.cdkl5.com for more information about CDKL5.


Mommy bloggers, Join me @ Top Mommy Blogs