Good Luck

"Did you have testing done while you were pregnant?", "Did you know before?", "Was everything "fine during your pregnancy?"  95-100% of the time after someone meets Sonzee and we begin a conversation those or similar questions and/or comments are brought up.  Grandparents, soon to be parents, friends of pregnant mothers, young adults, inquisitive people, you name it, everyone wants to know.  My guess is people want to be told we knew and yes it can be prevented, but we must have made some choice to keep her. But the hard reality is, "Yes we did have testing, no we didn't know beforehand, yes, everything was fine while I was pregnant, and good luck."

"But if you had an amnio then you would have found out!"  "Good luck", I say "because no we wouldn't have, not with her type of mutation".  For those who respond that they had microarrays completed in utero for their unborn child, I say, "Good luck, Sonzee's microarray is normal".  "Good luck" to those who are under the misconception that genetic means Sam or I passed down the mutation because "yes we did have testing and no neither of us have a mutation on our CDKL5 gene, Sonzee's mutation is de novo-it's hers, it's random, and she's the only one in the world currently with it, good luck."

It is hard to comprehend the complexities of genetics.  It is hard to fathom that no matter how much prenatal preparation occurs, no one is exempt.  To those who don't think about the possibility of rare, "good luck, we never did either".  The truth is, CDKL5 and the approximately 7,000 other RARE genetic disorders that are currently known are rare, but not one person is immune and not one person is guaranteed that rare won't happen to their child, so I say, "good luck".

But just because

As we finished our three day holiday weekend, my older kiddos and I sat on the couch deciding what book I would read to them.  I have an Alice in Wonderland series from my childhood and originally I grabbed that.  Naturally, that opened the way to my son announcing it was "girlie", and my oldest daughter wanting me to read a "Babysitter's Club" book instead, and me saying "It's not girlie, and no we aren't reading the Babysitter's club".  As I opened the book to begin reading my son ran excitedly over to me, handed me "The Phantom Tollbooth", and I said, "Oh, yes, this will be great".

I have to admit I have always known about this book, but honestly have never read it, so part of my desire to oblige my son completely came from the fact that I wanted to read this.  So the four of us sat down together and I began to read.  As I turned each page and read the words I kept thinking how amazingly quotable this book is.  It seemed as if every other line was one I wanted to burn into my mind to reference at a future point. Some of the phrases were cute, some made me chuckle, and others I felt spoke to me in a different way.  We only got 4 chapters in when it was time for the kids to get ready for bed, but I knew there was a quote I had not come across that somehow would be the perfect quote for me to relate to Sonzee.

I posted a picture on Sonya's Facebook page and mentioned how I had hoped Sonzee wouldn't have another seizure but of course within 10 minutes of posting that my hopes were dismantled.  During the 10th day of CDKL5 Awareness month, during neither her first nor most likely last 13+ minute seizure of the day, my mind wandered.   Should I post one of her seizures? Does posting one actually brings more awareness or just bring about pity?  If I posted it would people even want to watch it? I am pretty sure those of us who have to, would much rather not.  If people watch the video would someone comment about our lack of giving her a rescue med 2 minutes in?  I responded in my mind to that comment with the blatant fact that rescue meds do not stop her seizures any quicker than her body chooses to finish them and inevitably within 4-5 hours another one would occur again.  

Returning back from "seizure land", I was wondering if it was time to email her epileptologist and ask for the new medication titration schedule.  Feeling all sorts of weight from watching her endure all that she just had and not even feeling a glimmer of hope that we would ever stop her from this sort of suffering I came across the most clarifying quote.  Maybe CDKL5 won't ever be a string of characters that is known to everyone or will make the daily news in every city, in every state, in ever country, or on every continent.  Maybe there won't ever be a child with a CDKL5 mutation who makes it onto Ellen or is born to a world figure, actor, or famous athlete.  Maybe seizure control or the ability to be more typical won't ever be in Sonzee's cards, and Maybe finding a cure for CDKL5 won't, sadly, fall during her lifetime...

Dear Sonzee Bear (2)

Dear Sonzee,

The last letter I wrote to you was the day before you turned one.  I can remember so many if not all of the feelings I had that day as I reflected on your first year of life.  The joys and sorrows that filled each and every moment of your first year are etched into my mind.  To be honest little girl, the years have continued to pass by and the same types of feelings fill my heart and mind as your third birthday inches closer.  I feel I have grown as a mom and as a person in more ways than I could have ever imagined, but I also feel I have lost portions of myself I fear I won't ever be able to recover.  It is purely due to the situations that I have been faced with while on this journey with you, but it is due to no fault of your own.

I sit here tonight with a huge lump in my throat and tears in my eyes as I think about all you have gone through over the past almost three years of your life.  I honestly wonder about what the next three have in store for you, and I pray no matter where we are in all of this, you will have been given some reprieve to the suffering you are constantly forced to endure.  I do not want this to become about me, because this is your journey, this is all in the name of your soul's special purpose, but g-d do I wish your purpose was not at the expense that you are currently paying.  I wish I could have an ounce of your grace and ability to cope in the manner that you do with everything that has been thrown your way, because you my little bear live up to and beyond the spirit of the fighting bear you represent.

My heart aches for all that you are required to deal with, my mind is pained for the inability we all have at understanding your methods of communication, I feel suffocated as i watch your daily struggles to make the smallest movements, and my body is physically tired from watching you take part in the seizures you are constantly enduring.  I wish you didn't have to experience any of the hardships or limitations you have been given, but I must commend you on your absolute strength and determination not to let any of these things take you down.  I wish with every ounce of who I am that you did not have to live the life of a child missing such an important genetic protein.  There are so many times I feel so selfish for wanting you to keep pushing on despite all that you go through, but I also hope you understand that I would never want you to keep pushing on if you ever felt it is just too much to do.

You continue to bring out such joy and happiness to so many people.  You, yourself, all 20 pounds of you have made me an inspiration to others.  Do you know how many people have been able to make that sort of impact by the time they are three years old?   I will let you in on a little secret, very few.  You are a beautiful, strong, endearing, fierce little girl.  You amaze everyone who truly gets to know you, and you have influenced so many more people than you will ever know.  As painful as this journey has been so far, I cannot imagine where I would be, where our family would be without you.  I am so excited to be in the final planning stages of celebrating these past three years and am eagerly awaiting birthday week to begin in two days.

As always I am fervently praying that the next chapter of your story will be one filled with more ease and less days of hardships; but if it is not, I know you will be up for whatever challenge is sent your way and I hope you know I will be right there holding your hand, stroking your face, and kissing your forehead along the way.

Happy almost third birthday Sonzee Bear.


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Living with rare

80% of rare diseases have their origins rooted in genetics, and 50% of rare diseases occur in children.  Yesterday was World Rare Disease Day.  It is a day that takes place the last day in February every year with its purpose to bring awareness to the 7000 existing rare diseases.  CDKL5 is one of those rare diseases with less than 2000 diagnosed cases worldwide.  Prior to April 2015 our family was unaware of the fun facts the surround rare diseases, facts such as 95% of rare diseases do not have ONE single FDA approved treatment, and 30% of children with rare diseases do NOT live to see their 5th birthday.  The mere fact that a specific day was created to bring awareness to the public and decision makers to eliminate the challenges individuals and families encounter who have rare diseases says enough in and of itself.

Yesterday I wore my grey long sleeve CDKL5 awareness shirt, green leggings, and a jean skirt.  I went about my day as usual, and had the opportunity to pass out two Sonya's Story business cards.  Both of the above were intended to educate others on one rare disease, and let us be honest, it is really the only thing I can do.  CDKL5 is just one rare disease that currently has no known cure and will not during Sonzee's lifetime (sorry but not sorry to write those words out).  It is just one of the rare diseases that does not discriminate who it affects, nor does it spare its inhabitants from vast amounts of heartache.  Sadly, unless you know and love someone who suffers from a rare disease you would spend your life in a blissful state of ignorance (I know, I used to live there).

For the last two years on the last day of February I have celebrated a day I would rather not know existed.  For two years, I have not only learned about CDKL5, but I have become aware of rare.  For two years, I have cried over the loss of too many children whose bodies were just too tired trying to fit into a world that is not adequately prepared for rare.  For two years, I have spent some days pleading with g-d, begging for Sonzee not to leave me, and others asking for her to be set free.  For two years, I have walked a tight rope that has changed who I am, but has given me a direction of where I am going to go.  Looking back on the past two years, I guess it makes sense that one four letter word could be defined by both "not occurring very often" and "unusually good and remarkable", because that about sums up living with rare.

**Information was referenced from www.globalgenes.org, and www.rarediseaseday.org.

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Odds

When you think about the odds of your child being born with a rare disease, you realize you should have spent your life playing the lottery.  Odds are, you would have won.

I have been an avid blog reader for at least 7 years.  Parenting blogs, pregnancy blogs, children who suffer from cancer blogs, rare disease blogs, pretty much all types of blogs.  I would follow these families journeys always thinking "I can't even imagine, I don't want to even imagine what it must be like."  I can honestly say, I never thought it would happen to me.

In all other situations I would be the first to say, "it can always happen to me".  I've been petrified of leaving the kids in the car, of them drowning, secondary drowning, forgetting to buckle them, or having an illness regrettably go unnoticed, getting cancer. I have always tried to parent with the notion that I am not perfect and ANYTHING can happen. 

Sam and I had genetic testing done before we had children for every Jewish hereditary disease on the panel.  There is a sense of relief when you think you can't pass on anything horrific to your children. But what about those genes not tested? What about those mutations that occur de novo, spontaneously? 

There are 7,000 rare diseases in the world. It is thought that 80% of all rare disease patients are affected by approximately 350 rare diseases.  30,000,000 in the U.S. Suffer from a rare disease. That is 1/10 people, a 10% chance.   A rare disease is defined as an illness that effects less than 200,000 people in that rare disease group.  80% of that number are genetic.  50% are in children.  30% won't live to see their first birthday.  

Sonya is one of approximately 600 children affected by CDKL5.  The number slowly growing as more awareness is brought to CDKL5.  If I had known that Sonya would have a CDKL5 gene mutation, I would have been playing every lottery in every state for the past 10 years.  My odds of winning would have been higher.