Thursday, February 28, 2019

CDKL5 Rare

I sat at my computer last night trying to figure out what I wanted to convey today being that it is Rare Disease Day.  According to Merriam-Webster, rare is an adjective that means "seldom occurring, or found: uncommon; marked by unusual quality, merit, or appeal: distinctive; Superlative or extreme of its kind. Then the quote by Dr. Seuss popped into my mind, "why fit in when you were born to stand out" and the thoughts in my mind began to get jumbled and that feeling that tends to reside in my heart was a little more noticeable.  

In 2004 the CDKL5 gene was first identified, and it was originally known as STK9.  By 2015, the year we began this whole excursion down this funfilled path of what it means to be rare, there were approximately 600-1000 children diagnosed worldwide with a CDKL5 mutation.    At that time it was a brand new baby in terms of scientific studying.  Information regarding the prevalence and occurrence was hard to come by.  Research and another 4 years has led to more awareness and more diagnosed children.  Although rare, the occurrence is believed to be ~1:40,000 -60,000 live births, making it one of the most common forms of genetic epilepsy.  Currently, there are two children diagnosed with CDKL5 each week.

I need to take a moment myself to swallow that statistic.  That means this week there are two more seemingly healthy babies who will begin seizing before they are officially considered developmentally behind for not presenting with a social smile.  That means there are two more sets of families who will have their entire world flipped upside down in a way they are never going to fully ever comprehend.  That means this week two more families will find themselves on an unknown journey that they never even knew was a possibility to embark on.  That means our CDKL5 family is growing, but it also means that eventually, that is another family that will one day have to face a life without their precious child.

What exactly does it mean to be rare? It means to me as a parent there is a responsibility to try and make this statistic look a little different in another 4 years.  It means that we need to continue to raise awareness and get more potential life-altering remedies so that these two children who are diagnosed each week will begin to hear the words, "your child has CDKL5, BUT this is what we can do to help".  It means that we need to spread awareness so that ALL the children currently living with CDKL5 are given the BEST QUALITY OF LIFE POSSIBLE.  It means that we need to spread awareness so those children with CDKL5 mutations whose bodies had suffered too many seizures among other difficulties did not leave this world in vain.  

So today, for all of the children diagnosed with CDKL5 and for those who will be tomorrow, show you care, and spread what you know about rare...who knows, maybe one day (soon) we will look back on this moment in 2019 "when CDKL5 was once known as rare".

The Mighty Contributor

Monday, February 25, 2019

Keep on moving

3 years 5 months and 11 days ago Sam and I made the "controversial" decision to start our then 7-month-old baby Sonzee on her first dose of CBD oil.  I remember giving her the oil via a dropper into her mouth under her tongue a couple of times a day, and especially while she slept.  I remember the fear of dosing her incorrectly, the initial skepticism over whether it would work, and the curiosity of whether it would actually work for her.  I remember being cautiously optimistic, but at the same time, there was a very large part of me waiting behind the scenes to pull the cord that sent the room into a full-blown celebration when it would be the answer, HER answer.  I remember the initial feeling of defeat when that was not the outcome, HER outcome.

Over the course of 2 years, she would try multiple brands of oils, pastes, and types.  After each unsuccessful attempt, we were hit with mixed emotions.  Was it the brands we were choosing? Was it the dosing?  Was it the type?  Was it an allergy to the carrier oil/base? We felt disappointed because we felt surrounded by so many success stories, why couldn't she be one of them?  In my dreams, I planned on purchasing a billboard to join the bandwagon of spreading how medical marijuana was medicine, how it really does work, and how much better it is than pharmaceuticals.  Yet every time we found ourselves let down, trying to rationalize why it didn't work.  Then someone would share their success with another brand and we would talk ourselves into trying it again.

For the majority of 2018 we said we were done with any CBD oil, but then Epidiolex came to the market.  The jury was inconsistent even among kiddos with CDKL5, but it seemed again the vast majority who were on the trials had amazing success, so naturally we had to try itThe day the FDA approved doctors for prescribing Epdiolex was the day Sonzee's epileptologist wrote the script.  With eagerness and anticipation, she too was curious and excited to see how Sonzee would do, we were her first patient to finally get it and start it in December.  As usual, I didn't allow my mind to run too far off into the land of CDKL5 miracles, but I definitely put more than one egg into the basket.  Which is why my heart is hurting and feeling a heavy-weight as we are in the process of weaning what was her "hail mary".

I wish I could convey in words to those of you not parenting a child with refractory epilepsy exactly how it feels to know there is absolutely nothing you can give your child that will ever stop her seizures.  I wish I could express the heavy-weight mixed with airlessness that resides in my chest over the fact that nothing will ever work, but yet we are incapable of not trying more cocktails, more useless combinations of pharmaceuticals, or potential new hail mary's that will pop up along the way.  I wish I could adequately explain the pain and suffocation that never goes away because as long as she is alive she is suffering multiple times a day for 10+ minutes each time and there is nothing we can do for herNothing exists to correct the awfulness that ONE little misspelling on ONE gene has caused.

Sadly, our chapter with CBD is coming to an end.  Part of me doesn't want to believe that, and the other part of me says "just let it go."  It has nothing to do with her age, with the brand, with the dosing, with type, and/or with the base.  It is just like every other epileptic medicine (natural or not) that works for some and doesn't for others.  Even though we have been down this path before with so many medications, breaking up doesn't get any easier.  We will eventually get over this loss, it will take us some time for us to allow ourselves to believe something out there will work.  But eventually the disappointment won't feel as fresh and the optimism (while never as high as it once started) will slowly build its way back up, and no matter how many more times we will inevitably find ourselves traveling down the same exact path, we will do it with a smile. Because, as Albert Einstein said, "Life is like riding a bicycle.  To keep your balance you must keep moving."

The Mighty Contributor

Monday, February 18, 2019


On Sunday morning I spent 15 minutes reordering Sonzee’s monthly medications via a pharmacy recording system.  I have the prompts memorized so the entire experience is actually a minute or two less than for those who might have to wait for the guidance of “press 1”, “press #”, “press 2”, etc. This didn’t include the specialty care pharmacy we use to get Sonzee’s Epidiolex, that phone call takes 15 minutes itself to review the same information I literally give every time I call, but for some reason, I’m required to repeat.  After I ordered her medication, I then spent 15 minutes administering her morning medications, another 10 minutes were spent turning off her TPN and caring for her central line, 20 minutes were spent getting her dressed, and 15 minutes were spent making her food for the day, setting up new bags, and turning on her pump.  Getting Sonzee up and ready takes on average a good solid hour every morning.  It is ok, it is just our norm.

On weekdays we have a nurse to help with getting her things ready and together for the day, but honestly, a lot of what is done for her is comparable to weekly meal prep.  I prepackage baggies of different items to make things “simpler”, but I’m honestly not so sure it really does just makes the actual time spent at that moment “less”, but the time is being spent at some point.  She has her linens on her bed changed every 24 hours because of her central line, any blanket or item that comes in contact with her at any point throughout the day is washed.  Then there are also the psychological considerations of those who might potentially come in contact with her or a family member with "an allergy", "just a cough or cold", or a pain medicated masked illness.  Maybe it might be considered overly cautious, but we are talking about literally life or death if any form of bacteria (G-d forbid) enters into her central line.  I honestly do not even really realize anymore how much time is collectively spent thinking about and or performing Sonzee tasks, as they tend to just blend in with the day.  Sometimes it feels like every moment is spent dealing with a doctors office, pharmacy, therapist, her personal care in general, etc.  This is not a complaint, it is just what comes with the territory.

Someone recently commented (not in a negative manner) that I don’t get out because I “have 5 children”...that is honestly not the reality.  It really has very little to do with having 5 children and more to do with having one medically complex child, who honestly equals more work than my (thankfully) healthy 4 other children combined.  When it comes time to me considering taking "me time", the sheer thought of that concept alone is honestly exhausting.  I just do not have it in me physically, emotionally, or on any level to even think about doing something, much less actually follow through with doing it.  I know, I am supposed to "care for myself", it would be good for me to socialize, but honestly, I do not have the energy or really desire to find the time, plan an activity, and actually follow through with said activity. 

It is really something that most do not understand, and thankfully do not have to.  I am sure there are moms of medically complex kiddos who have the energy to be super-moms in every capacity, but this medically complex mom is absolutely drained.  I use up every ounce of my energy and patience parenting all my children, kind of caring about how the house looks (I use the term "kind of" extremely loosely these days, yet there was once a time that I cared a lot), and trying to keep a meaningful smile on my face.  I realize unless you live a life similar to ours, it is impossible to grasp just how much the complexities stem from just her, and I would love for it to remain that way for you.  But just know that my outward "anti-social" demeanor and purposeful isolation are not because I wish for it to be that way, it is just how it has to be for a long list of reasons that those of you who do not know of, will hopefully remain forever blissfully unaware.

The Mighty Contributor

Monday, February 11, 2019

Dear Sonzee (3)

Dear Sonzee,

Today marks 4 years since we first met.  Besides your sister who we planned to meet really early, you came into this world earlier than we had psychologically planned for.  Your father had me convinced you were going to be another boy and with my history of being wrong 100%, I didn't even argue.  I  even stupidly went so far as to think, "we will have the perfect family; two boys, and two girls".  Honestly, I did not even entertain the possibility you would be a girl until two weeks prior to your actual arrival, I had a mini panic attack wondering how three girls would share one bedroom, but then reminded myself there was "no way" you were going to be a girl.  Bubbie was the only one who knew, but she kept that a well-kept secret and made you your baby blanket with a matching hat and bow.  She bought all of the items I had flagged in the "if baby Z is a girl" Etsy store.  In hindsight, I would have picked a different color yarn for your blanket and spent more time carefully choosing outfits and bows.

Nothing about your arrival was expected or planned.  By the time I was in triage and you were born it was a whopping 40 minutes and your doctor couldn't get there quick enough, he missed the entire thing, and two nurses argued over who was going to catch you, while you decided you weren't waiting for either and the next thing I knew I had you in my arms.  I knew from the first moment "something wasn't right".  To be honest, the nagging pit in my stomach anxious feeling has never left over the last 4 years, it just becomes muffled every once and a while.  The constant worrying, panic, tear-filled moments over what is best for you have never left either, and none of it has gotten any easier.

I have shared in your three older siblings celebrating this milestone and the achievements that have brought you to today are ones they thankfully have never had to endure and I apologize that you must.  I am so sorry you are celebrating today being carried from various pieces of equipment by your father, myself, and nurse Karen.  I am so sorry that we might accidentally place your body in a position that could ultimately lead to another fracture for you.  I am so sorry you are unable to run excitedly out of your room to see your gifts on the counter.  I am so sorry that your gifts have to be signs, pillow cases, pacifiers, pacifier clips, and clothing versus the latest trending four-year-old hot commodity.  I am sorry we will not be celebrating you with a party of your favorite characters, and I am so incredibly sorry I have no idea who they might even be.

I am sorry you have spent 6+ weeks total since September 16 sleeping in a bed on the eighth floor of Phoenix Children's Hospital, and it breaks my heart that undoubtedly you will spend many more during this upcoming year.  I am sorry that you have spent so many minutes this past week seizing and in pain or sleeping due to those seizures.  I wish my prayers and begging would have at some point over these past four years changed any of what you endure on a daily basis.  I am sorry that our love for you has not changed any of how your story has unfolded or will continue to do so.  I wish and pray that we could do something more for you.

My dear Sonzee bear I hope you know if it had ever been up to me alone, I would have done whatever was asked of me to ensure this was NOT the lottery you would win.  I hope you know how much your siblings love you and pray for you to not have to deal with the sad parts of having a CDKL5 mutation.  I hope you know that we all live for your smile and moments of happiness and contentedness.  I hope you know that we treasure every moment you share with us and while not the ideal lessons of parenthood I would have asked for, I thank you for them all. 

And so as you turn 4 and enter into your next year, my wish for you is that this is your best year ahead.  One that will be filled with your fewest seizures and least hospitalizations.  Your most smiles and endless moments of laughter.  A year that you will feel less pain and suffer less.  I pray that this year we solve more problems while creating fewer (or no) new ones and that you will only experience positive gains.  I hope you will cry fewer tears and that your bones will strengthen, and that you will continue with more sassy days.  I hope that your personality continues to shine through and that we learn to help you to communicate so we are better able to be there for you in the capacity that you actually want and need. What I really want to give you for your 4th birthday is a cure to this madness, but since that is not a possibility what I am offering to you is an unFOURgettable year ahead. 

Love always,

The Mighty Contributor

Friday, February 8, 2019


For once I just wanted to be able to place the blame on something other than CDKL5.  I really felt it was time for once in her life to get an ACTUAL real answer versus "it is due to xyz because of all things related to CDKL5, but not directly a symptom of CDKL5".  Would the answer have given us anything more concrete to work with?  In my mind, yes.  Reality?  I suppose we won't ever know.  It is amazing what happens when your child has a broad diagnosis; everyone spends more time blaming every other specialist, never taking any ownership over the symptom, deferring out the responsibility of treatment to someone else who feels it isn't really their problem and then nothing changes and no one helps.

Maybe a new diagnosis would not have given her any better treatment, but I felt like it would have doctors actually tell us if we should or should not be pushing her to weight bear to help her bones improve.  Maybe they would give us a game plan for ways to protect her?  I feel like we have essentially been left out in the cold.  Any answers come after asking the same unanswered questions 15 times and then it is as if they are doing us a huge favor by giving us a reply.  I have no idea what to do to help her.

This is a quick snapshot of "explanations" being given to us (and then my thoughts):

Her weakened bones and fractures are due to lack of weight bearing.  When she weight bears she fractures a bone.
Her fractures are due to severe osteopenia from being non ambulatory.  We cannot get her to be ambulatory because when we try she fractures a bone.
Speak to Endocrinology for best ways to manage osteopenia and her weakened bones.  We did, she's on supplements and she had an infusion that caused such negative effects to her I never want to put her through it again.
Her weakened bones are due to seizure medications. NOT THE ONES SHE IS TAKING, and guess what, she won't be coming off of those any time during her life.
Her weakened bones are due to lack of nutrition.  She now has greatly improved nutrition.
Her weakened bones are due to GI medications.  If she had been on them for 30 years.
Her weakened bones and fractures are due to CDKL5.  Not according to the CDKL5 guru.

What do we do for her?  We have already padded her bed, her activity chairs, her wheelchair, and anywhere she is placed.  She has done weight bearing one time since September and it resulted in a new fracture.  She has been sitting in a cube chair at school, could that have caused compression fractures T5 and T6?  Every time we explore a new avenue for her, her body lets her down.  This is almost worse than watching her endure daily seizures.  Or maybe in another almost 4 years, I will be used to it just the same?

The Mighty Contributor

Tuesday, February 5, 2019

In six days

For three weeks every year, my kids are all "two years apart".  I can respond to the how old are your kids?  question with an even response; and these past three weeks it has been "1, 3, 5, 7, and 9".  The birthday that changes things up occurs in 7 days and the honor is given to Sonzee.  In one week my "toddler" becomes a "preschooler", by age and in theory, but not in our reality.  So this birthday is one I meet with an "inner conflict" for lack of a better term.

Four years old.  Another birthday we are beyond grateful for her to celebrate.  Another birthday we are beyond torn on what she would want to have happen.  Four is that first year where kids are excited about a theme and make specific requests.  Maybe it would be Elsa/Anna, Minnie, or My little pony?  I find the task of determining what she really wants to be daunting, overwhelming, and quite honestly suffocating.  It is another birthday we cannot offer her even a taste of cake or she will suffer.  It is another birthday she does not get to celebrate like a "typical Sonzee" would.  Her gifts are all needs based because honestly how many light up/musical switch adapted toys can one girl have that end up sitting on the shelf?!

In six days I will decorate her door with streamers and wake her up by singing "Happy Birthday".  The "new and improved Sonzee" will smirk ear to ear with all of the doting and attention.  She will give us her adorable crooked smiles and hopefully have a day filled with more time awake than spent seizing.  She will hopefully know the day is a day we are honoring her and when her port needle is removed Tuesday we will have a family pool party in her honor in her swim spa after school.  In 6 days it will be February 11, and while 4 years ago on that day I had no idea we would have embarked on this journey, it will be another February 11 that I will be thankful we are getting to spend with her here.

The Mighty Contributor

Friday, February 1, 2019


After April 16, 2015, I never anticipated that we would ever have a question again as to the "cause" of Sonzee's symptoms.  That was the day we were given a summary for her life.  It was the reason for her uncontrollable seizures, her "eyes doing weird things", her cortical vision impairment, and all of her developmental delays.  8 months later it was the reason for her failure to thrive, for the need to get a g-tube, for her to start the ketogenic diet, and for the hypsarrhythmia found in her EEG background. 13 months from that original April date it was the reason for why her stomach just stopped working and why she needed TPN for the first time.  Despite always searching for various answers for her different presentations of GI issues and never needing to search further for the reasons behind her atrocious seizures, CDKL5 has always been our answer...

Until it wasn't.

In September after Sonzee received her personal gait trainer and began to practice more weight bearing we learned she had 5 fractures all in various stages of healing.  I considered every possible cause, but ultimately CDKL5 received the blame.  There are a handful of kiddos who have a CDKL5 diagnosis who also require extensive bone monitoring and supplements, so like her severe presentation of GI issues, I just considered her to have been impacted more in the area of her bone health.  Honestly, besides blaming the formula she is on, it makes perfect sense to place the burden of this on CDKL5.  She is non-ambulatory, she has severe seizures, and she has osteopenia, of course, it could be CDKL5.  Not one of her doctors felt there was any other explanation, so I let it go.

It wasn't until her most recent fracture within the last two weeks and multiple private messages from followers that a voice of doubt began to get louder in my mind.  It doesn't make sense, (my guess is) 95% of kiddos diagnosed with CDKL5 are non-ambulatory, the majority are non-weight bearing, the same percentage if not more have atrocious seizures, it just doesn't make sense!  How did she get a compression fracture when she cannot even sit? How did she get a buckle fracture in her right ankle when she hasn't even put AFO's on in months?  What caused all of her fractures in September?  These are small fractures, they do not require any casting or surgery.  I decided to call the CDKL5 clinic and ask for orthopedics and endocrinology to consult when we go in 2 weeks.  I was told that they will consult with orthopedics, but this is not a CDKL5 issue and they recommend further testing.  I immediately emailed Sonzee's geneticist and explained the situation, who after hearing CDKL5 clinic recommended the testing said she had no problem starting with the sequencing panel for brittle bones.

In 2015 when genetic testing was offered to "find the cause of Sonzee's seizures", I didn't understand what that truly meant.  I have always been thankful that we didn't have to spend years of her life wondering "why" she was the way she was, but I feel like it has prevented us from seeing clearly.  I don't know how I am supposed to be feeling right now, but it is a mixture of hope for a clear cut answer, of sadness over what that answer is likely to reveal, and fear over what it will mean for her.  The days before we were told CDKL5 I said I needed an answer, and as long as we had one I could deal with it.  I feel like I am at that point again...I need an answer and we will deal with whatever it is.

"As long as one keeps searching, the answers come"-Joan Baez

The Mighty Contributor