The last 20 days

We are only 28 days into 2016 and already there have been two beautiful little girls with CDKL5 returned to G-d.  Two little girls taken from their families.  Two little girls who at the age of 5 and 15 months were special enough to have completed their respective missions here on earth.  In the words of Sally Field's character in Steel Magnolias, "We should handle it the best way we know how and get on with it.  That's what my mind says; I just wish somebody would explain it to my heart."

I am heart broken, I am beyond devastated, I am feeling defeated.  I am pretty sure it is safe for me to speak on behalf of our entire CDKL5 family when I say, they are all feeling the same.  Those who have already lost their precious children have an understanding that goes beyond my current capabilities of comprehension; they actually are living our worst nightmares.  At the same time, those of us who have yet to walk that path are struggling to cope with the devastation this disorder brings to all of the children and families we virtually adopt as our own, while we all quietly wonder, "Which one of ours will be next".  

I have always known that no matter what, I will be burying Sonzee.  It is a morbid thought.  It is a thought no one wants to think, much less say the words aloud.  Yet, it IS a fact.  Your average typical healthy child does not qualify for "Make a Wish".  That is a service reserved for those children faced with life threatening illnesses.  Children with CDKL5 qualify.  I GET IT.  It was just not front and center in my every day dealings as much as it has been over the past 20 days.  The past 20 days have made things more "real", more tangible, more unavoidable.  While there is NO humanly way to ever truly PREPARE for the day it will happen, I have been giving this topic extra thought.  I want to make sure that when I am staring the worst day of my life in the face, I am at least at peace with the journey I made.  I want to at the very least feel without a doubt that I helped Sonzee complete her mission in the best manner possible, giving her all of the opportunities available, and with the least amount of motherly guilt as possible.  After all, I was entrusted with this insurmountable task when G-d felt I was worthy of being chosen to be her mother.  

These last 20 days have shifted my thinking and rearranged my priorities.  These last 20 days have given me a different perspective on what is most important in my life and the lives of my children.  These last 20 days have reinforced for me my desires to give the bear the best quality of life that is available to her.  These last 20 days have provided me with a rough draft, an outline so to speak of what I want to make sure I accomplish for the Sonze.

I want to give our little Sonzee bear more love than she will know what to do with, more love than she is able to tolerate in this life, so when she is no longer here with us, she still feels it wrapped around her.  I want to give her and her siblings special experiences that they will all cherish and help them to build memories that will last each of their lifetimes here on earth and play back for the Sonze when she no longer has them to create with.  I want her to know she has never been and will never be a burden to us, and we are so grateful for all she has and continues to teach us.  Most importantly, I want her to be as happy as is humanly possible and more.  I hope and pray G-d guides us in our decision making so she never has to suffer and that he ensures we continue to do what is best for her and not selfish for us.  Whether we are blessed with her physical presence for only a few more days, weeks, or months, or lucky enough for it to span to longer years, it is my personal mission to fully celebrate each and every precious moment that she has to offer. 

After all, the only way I will be able to follow through with my portion of G-d's plan is to realize he has given me this perspective as a guide. 

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Unavoidable

The night I took Sonzee to the ER Sam was out playing ice hockey.  I could not get a hold of him, so instead I called my neighbor who sent her son rushing over to stay with the other kids (she was out) so I could leave.  I googled less than 5 times "seizures in one month old baby" because the only things that showed up were not good.  I remember reading there could be genetic reasons but I quickly brushed those off because of course that was not the case.  I also remember the words "infantile spasms" (IS).  I remember reading the average age when they start was around 4-6 months, but they could start as early as one month.  I remember reading that the prognosis for typical development was poor.  I remember that the spasms themselves can also be damaging to the brain if left untreated.  I remember being extremely petrified of Sonzee being diagnosed with these.

I must have asked the neurologist on staff at least twice a day each day during rounds if she thought Sonzee was presenting with Infantile Spasms.  I remember feeling slightly at ease each time she said, "right now, it does not appear that she has spasms, however, that is not to say that she won't ever".  Each day that passed with Sonzee not exhibiting spasms was a day to be celebrated.  When she had her stay in June at Phoenix Children's Hospital, we had a little bit of a scare that the spasms were present.  Topamax has been known to be somewhat effective in the treatment of IS, so that is when we agreed to increase her dose.  Each twitch her body made was another video sent to her neurologist.  Each week she slept a little more than usual resulted in an outpatient EEG to do a quick check to make sure the EEG background was still normal and spasms were not present.  While children who do not have CDKL5 typically have IS start between 4-6 months and 1 year, kiddos with CDKL5 are not typically in the clear until they are around two.  Some of children with CDKL5 present with the actual hypsarrythmia /IS, others just the clinical presentation of the spasms but their background remains "normal".  As all parents would, we have always hoped and prayed that Sonzee would be part of the latter. 

I assure you the presentation of "infantile spasms" are just as scary as you might imagine.  I can also assure you that the treatments for spasms if you can imagine are even scarier.  Please do not get me wrong, we have options, if you consider choosing to be hit by a bus or a truck while crossing the street actual options.  Children have died during the two main treatments, children have become blind on a drug used specifically for that treatment, and children have suffered from other unpleasant side effects all while trying to get rid of these nasty spasms and the abnormal brain activity that is simultaneously present.  The thing about the treatments is that they are not even fail proof.  Many children require multiple attempts, and many children finish their attempts unsuccessful.  However, no matter the side effects, you HAVE to at least try to treat the spasms because not treating them is just as detrimental.  

For the past 11 months, Sam and I have lived in fear of these nasty spasms.  We naively felt that we could outsmart these spasms, that we were somehow doing something miraculous that would keep these beasts away.  While we do believe the Topamax was playing a role in the dampening of the presentation of the spasms, the drugs awful side effects were starting to take their toll on Sonze, and so we had to wean her.  Besides her little wean setback, it has also become evident that Sonzee is not going to be part of the kiddos with CDKL5 who avoid these spasms.  It looks like all we were doing was just postponing the inevitable.  These spasms are unavoidable, for Sonze at least.

The last two days alone she has had at least 12 separate clusters of 3-4 spasms at a time.  We believe the reason our neurologist is holding off on the EEG is to buy us some time on the ketogenic diet in the hopes that it will do the trick.  She knows our feelings regarding the stronger treatment options and she has been supportive with pushing them off.  We need the diet to work its wonders.  After a month on the diet, Sonzee will have an EEG to check her background and to see if the spasms are present along with hypsarrythmia.  If there is hypsarrythmia/spasms present, she will be weaned from the diet to begin a different IS treatment option.  You can read here to learn more about prednisolone and ACTH.  We have mentally agreed to the prednisolone vs ACTH treatment for Sonzee.  

I hope over the next 4-6 weeks, we will be successful with fattening the bear up with the addition of the gtube as well as controlling her spasms with the ketogenic diet.  Even though eventually it will be wrong, my mommy gut says that if Sonzee has to endure either of those other treatments, her little body will not be able to withstand either.  

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Trying to get out of the trenches...

Being optimistic does not come easily for me.  I have shared before that I prefer the cautiously optimist or the more realistic route for my daily approach.  These last couple of weeks I hate to say I have been feeling less hopeful in all areas related to Sonzee, and so I have not wanted to write.

Who wants to read Debbie downer posts on the daily?  I would say maybe if I write it will be make me feel better, but my thoughts are all wonky.  I have tried to start a more positive, inspiring post and I cannot because it is not what I am feeling.  Alas, here I am trying to clear my head with the hope that it will sky rocket me out of the trenches.

This week, similar to the one before has flown by.  There are so many changes that Sonzee has already begun, and so many for her in the near future.  She has finally completed her Topamax wean.  As exciting as this has been, it has not come with some ugly side effects.  Topamax we were told was a "baby drug", and maybe it is compared to the other beasts out there, but let me assure you that watching your child have tremors, the shakes, be extra irritable, possibly be experiencing headaches, and having changes to her seizure activity as a "side effect" or a "weaning effect" is by no means benign.  While I realize these drugs have beneficial properties to them, the side effects are almost as hideous as what they are treating.  I cannot tell you how many ADULTS have reached out to me over the past month to share their experiences while on Topamax and while being weaned from the drug.  ALL of these ADULTS are well beyond 14.8lbs.  ALL of these ADULTS experienced at least one of the side effects that Sonzee has.  It makes me angry and it makes me so sad.  She continues to improve with her cognitive abilities and physical strengthening, so at least that is a cushion, but I CANNOT express how much I am looking forward to another 4-6 weeks from now when the drug is out of her system.

Another addition is the start of her new diet.  Due to the strict nature of the ketogenic diet, Sonzee will no longer be able to take any form of premade liquid medication.  This includes and is not limited to Tylenol, over the counter medications, antibiotics, and her other antiepileptic drug, Keppra.  We have to buy adult versions of all medications due to their limited sugar/carbohydrate content.  I then have to calculate the correct dosage, cut, and crush each pill.  Due to the change from liquid to pill form with her Keppra, we were actually able to wean her a bit from this drug as well.  Usually only one wean of a medication is completed at a time, but in our case this was not planned and with it occurring simultaneously with the Topamax wean I am at a loss as to which drug she is reacting to.  Because she experienced similar symptoms this week as she has throughout the previous weeks, I can semi-confidently say that it is due to the Topamax wean.  

We had our final visit to her immunologist yesterday.  I had been hoping there would actually be some issues with her gamma globulin levels since her white blood count, platelets, and lymphocytes are usually elevated or off.  That to me, would have at least given us a better idea as to why she is constantly getting sick.  Instead, after tracking her labs since November we are now being sent to hematology/oncology to see if they can offer some additional insight.  I am honestly not looking into this too deeply because it could just be "Sonzee", I hope.  However, she has presented with these abnormal levels since her first day of life, it was always attributed to something else.  If I actually think about some of her behaviors it makes me wonder if my gut is saying there really is something else going on.  

My mommy gut has to be misplaced or wrong one of these times....right??

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What is best for Sonzee

For those of you who have been following our journey from the beginning, you are probably aware that we have been battling weight issues since Sonzee turned 5/6 months old.  This issue, like many that present themselves with CDKL5, became apparent gradually.  It was only after she had multiple trips to different doctors for various reasons that it dawned on me that her weight was dropping from the previous visit or remaining stagnant.  Unfortunately, when your child is seen my various medical professionals, it becomes more challenging to keep track of these "smaller" ticket items.  During Sonzee's 10 month checkup, I mentioned to her pediatrician that the previous week her weight was only 13lb 9oz at the neurologist, and I could have sworn it was higher at the appointment she had just a couple of weeks before that one.  The neurologist’s office chalked it up to being weighed inaccurately, but I was uneasy because I knew she had been weighed each time with her clothing off.  It was then that her pediatrician was on board with there actually being a concern.

As many of you also know, Sonzee is a breastfed baby.  I have breastfed all four of my children for various lengths.  I introduced solids to each of them at different times during their "babyhood" as well.  For Sonzee, Sam and I decided early on that we would not like to play the seizure/food lottery (as we are typically only winners of the less desirable lotteries), and so we found a nutritionist willing to work with us, and we began to incorporate foods that were low in carbs/sugar in addition to her breastmilk intake.  For all of my children, we use the first year to be primarily breastmilk and the solids to be more of food introduction and to gain oral motor skills (the speech therapist in me cannot help herself).

We decided with our neurologist as soon as their staffed nutritionist was able to take on Sonzee as a new patient we would transition into the ketogenic diet.  For us, this would be surest way to not aggravate the seizures.  We have been feeding Sonzee avocado, hummus, olive dip, and asparagus for a good while now.  We have had some successful weigh-ins since October, with her weight remaining at least stagnant and not dropping, and her most positive being just 3 weeks ago with Sonzee weighing 14lbs 10oz.  In my mind, we had a gtube consult back in December to just discuss the possibility of the gtube, but not to actually ever have to need it.  

During our visit, the surgeon, who was recommended by a dear friend here in Phoenix re: personal experience, was very helpful in answering our questions.  We decided we would not be interested in the ngtube, as those can be very irritating to the throat, and if we wanted to preserve her desire to be fed by mouth; this route was not recommended for long-term use.  We instead figured when/if the time came, we would prefer to start with a gtube, as this would be better for the long haul.  I think I can include Sam in my current statement, that when we left his office, we were still undecided about whether Sonzee would actually need the gtube.  The doctor stated that she was on the cusp of failure to thrive, but to us, she still had time to show everyone she could gain weight on her own.  I figured by the time of our ketogenic diet consultation, we would have a good idea of whether the gtube would be beneficial for her.

I was even more determined following that appointment to get her filled with foods.  I even mentioned multiple times that if at her next weigh-in, if she had not gained weight at least I would know I had given it my all.  Any chance we had, we would force food down her throat.  I woke up every time she shifted in the middle of the night to encourage her to eat.  I really, truthfully did the best I could in that department.  I know she ate whenever she was awake and willing.  I tried nearly every suggestion that was shared with me to increase her calories, but it was also the seizure factor.  When she has a seizure she will sleep for hours following it, and there is no amount of encouragement I could offer to change that.

Last Wednesday we had our meeting with consultation team for the ketogenic diet.  We are to be starting it any day now.  Her lab work has been completed.  She has a couple more tests/scans she needs to undergo, and we are just waiting on the email from the nutritionist.  Her medication has been changed to pills, so they can be cut, crushed, and added into her diet without added sugars from liquids.  They weighed her at this appointment, and sadly, she is only 14lbs 8oz.  We decided that the gtube is what is best for Sonzee.  

She had her video fluoroscopy this morning and the results show she is a great candidate.  Her stomach empties appropriately, and her anatomy of both the esophagus and stomach are great.  We are now just waiting to hear from the surgeon as to the surgery date.  

We know we did the best we could to help her without the gtube.  We understand and know the risks of having a surgery; we know and understand there will now be an increased risk of infections.  We are aware that with any procedure there are always negatives as possibilities.  We are doing what is best for the bear.  We have HER front and center with all of her care decisions.  This is what is BEST for Sonzee.  

Maybe if I say that last line enough times, I will be "okay" with this outcome.

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The Ketogenic Diet

When Sonzee was first diagnosed, tests were performed to determine if a specific diet would be beneficial with controlling her seizures.  The doctors here in Phoenix were looking primarily for a glut-1 deficiency, and stated a special diet could be the fix for the seizures if this was found to be the cause in Sonzee's case.  In the end, we know it ended up being CDKL5, and the discussion of the special diet was placed temporarily on hold.

I have to be honest; I was relieved at the time.  I did not know much about the diet other than it was called "Ketogenic".  I did not take any interest in researching it due to the millions of articles I was reading on seizures, epilepsy, and CDKL5.  I was relieved to know that I could continue to breastfeed Sonzee as I intended to do.

I have breastfed all four of my children, for various lengths of times.  I had anticipated breastfeeding my fourth child through his/her first year and into his/her second year of life.  I had never done that with any of my other children and felt this would be a special experience that we would share.  Today I feel like I have received another punch to the gut.  While I am going to be using breastmilk within the diet, it will need to be pumped, and therefore I have approximately 2 weeks (at most) left of my breastfeeding experience with Sonzee...and I am crushed.  

I know we need to try this diet.  I am hopeful between the diet, Keppra, and the CBD oil she will achieve seizure freedom and we can then lower her Keppra or have it out of her system completely.  For this reason alone I know it will be worth it.  It is still scary whenever we make a decision regarding her care, and it always causes me great doubt at the beginning.  I know in a couple of weeks the feeling in the pit of my stomach will be much less, and I will feel more confident that we made the "right" choice, but for now, I am scared.

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For those of you who are like me and have limited to no knowledge of the Ketogenic Diet, here is some information that will be helpful for all of us.

What is the Ketogenic Diet?

It is a special diet that is high in fat and is used to treat seizures.  The diet eliminates foods such as sweets, bread, cereal, pasta, and milk.  All food must be carefully planned and weighed on a gram scale.

How does the diet work?

The special combination of foods causes the body to use mostly fats for energy; the body will produce ketones as an end result.

How effective if the diet at controlling/eliminating seizures?

Studies have followed children on the diet for long periods of time, resulting in 1/3 of children on the diet having greater than 90% seizure control, becoming seizure free.  An additional 1/3 experience 50% reduction in seizures.  The remaining 1/3 discontinue the diet due to its ineffectiveness or the difficulty.

What are adverse effects of the diet?

Short term:

Excessive thirstiness, frequent urination, fatigue, hunger, confusion, tachycardia, sweating, chills, shakiness, constipation

Long term:

Kidney stones, elevated lipids, and decreased growth rate.

We will slowly be introduced into the diet with formula and breastmilk combined together, with her ratio being 3:1.  A specific meal plan will be created for her.  We will be completing twice-daily ketone testing, weekly weight checks and labs every month-3 months.  She will also be having ultrasounds of her kidney, heart, and other organs at the start and then each year she is on the diet.  The plan at this point is for her to remain on the diet for a minimum of 3 months from the start date for 2-3 years or longer.  If we experience any challenges along the way that indicate we need to end treatment, and we will begin a wean.

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