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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Loss

In 2015, there were 10 children with CDKL5 who passed away.  Eight days into 2016, the beautiful Harper Howard joined her other CDKL5 brothers and sisters before her in heaven.  All of these beautiful children fought daily seizures, infections, developmental delays, etc., and all of their little bodies were unable to endure any more that CDKL5 had to offer.  While there were a "lucky" handful of  you who checked in with me since the loss of Harper who got more than you bargained for when you asked how I was doing, odds are if you asked me how I have been doing since Friday, I lied.  

There are so many thoughts running wildly through my brain.  I have started two different blog posts already, and have been unable to finish either one.  I cannot seem to find the words.  I cannot seem to gather my thoughts.  I will say, I have gathered wells and wells of tears.  I have taken Sonya's latest CDKL5 sister's loss extremely hard, and rightly so.  The loss of any child is unbearable and a concept I will forever fail to truly understand. 

The day of Sonya's diagnosis will forever remain vivid in my mind.  It will always be as clear to me as if it happened yesterday.  I remember the drive to the office.  I remember the waiting room.  I remember bouncing Sonzee in my arms as we were given a piece of paper that would forever change our lives.  I remember asking our neurologist if the right column that stated "Early Infantile Epileptic Encephalopy-2" and "Atypical Rett Syndrome" meant that Sonzee would definitely follow that path.  I remember her reply "I would like to think not".  How naive we all were that minute.  How little we knew.

As we got into the car still in shock, I decided to google "C-D-K-L-5".  Besides the organizations website, two other blogs popped up onto my screen.  One of them was Hope4Harper.  To be honest, Sam and I were pretty devastated when we saw Harper in a wheelchair.  Again, how naive we were at that minute.  We googled "C-D-K-L-5" countless times, as if that would change the limited depressing information we found.  We watched YouTube videos, one after the other of every child I now know more about than I do any child in any of my typical children's classes at school.  I have holiday cards from them in my home, their numbers in my phone, and bonds with these children's parents that will never be broken, regardless of which of us loses our child first.

During a phone call with my mother a couple of months back, we were talking about Sonzee and we verged onto the topic of death.  My mother rightly proclaimed that she hoped Sonzee's death would not happen during her time, she said she hoped G-d knew she would not be able to handle that.  I remember through the tears I matter of factly stated, "Mom, I hope it doesn't happen during your lifetime, but I am trying to come to terms with the fact that I will be burying a child".  We quickly left the topic, and to be honest until this weekend that comment was stored in the recesses of my brain.  

Many people told me last week that they were so sorry to hear about Harper when she was initially in the hospital, but to remember she is not Sonzee.  I actually started to believe them.  While everyone on our support page was beyond devastated when we learned our prayers were answered in a different manner than our hearts would prefer, I am sure I am not the only one who wondered what Harper's cause of death was.  With how selfless Harper's family has been throughout their journey with CDKL5, it is not surprising that her mother explained exactly what happened.  

Oh Harper, I am so sorry for all your little body had to endure.  I am so incredibly sorry to all of the CDKL5 babies/children who remain here on earth and those whose souls have already accomplished their mission.  I am so thankful for you Harper on so many levels.  I am so thankful that your parents have given your body to science as your final physical act in hopes to help your CDKL5 sister Sonzee and all your other CDKL5 siblings.  I am so thankful you are no longer suffering, that you are no longer locked in a body and experiencing seizures.  I am so thankful you will forever be part of our family.

We all know seizures and developmental delays are a very big part of CDKL5, but there is still so much research to do.  There are far too many children dying with this disorder for the small number of children who represent it.  There is no cure for CDKL5.  We all hold onto the creed, Hope-Love-Cure, with Hope front and center.  While all of our children exhibit the consequences of a mutated CDKL5 gene differently, until there is a cure, Sonzee and all of her CDKL5 siblings will also tragically complete their respective missions here on earth earlier than any of us will ever be prepared for.   

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Broken

I am empty and I am broken.  I guess that is what happens when a child who has the same genetic disorder as yours is fighting for her life in a PICU in Texas.  It clouds your brain with a fog; it makes things "real".  It makes life hard.

I have so many feelings at this moment.  Fear.  Panic.  Defeat.  Sadness.  Shock.  It is not solely because when I blink I can see Sonzee in this situation; it is because ALL the families impacted with a child who has CDKL5 ARE A family.

We are there for one another on good days, sharing in the joys and accomplishments.  We smile with every positive achievement.  We are there for the darker days.  The days that are not so openly shared with the "outside" world.  We have an understanding that others do not.  We get it.

We are all aware that at any moment things can take a turn for the worse.  Health is not easy to maintain, hospitalization occur more than families like, and a seizure can destroy life in a blink of an eye.  

Today, right now, this one hurts the most.  I have spoken with this child's mom.  Penny "welcomed" us into this sisterhood with a lengthy email detailing every imaginable answer to any question I might have regarding therapies and life with a child who has CDKL5.  She is an advocate and amazing person.  My heart is breaking for her and for her family.  My mind is overwhelmed with a mixture of emotions.

I feel helpless and all I can do is pray for a miracle and hope to reach enough people who will do the same.  CDKL5 does not just take away the ability for our children to do daily tasks; it causes many tears, and breaks an unnecessary amount of hearts.

Please pray for Harper and her family.  Her story is shared at www.hope4harper.com

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A letter to those who call me an inspiration

When I think about people who embody the definition of the word inspiration, the names of Helen Keller, Ray Charles, Stevie Wonder, or others who have overcome substantial obstacles flash across.  I think about those who have made profound contributions to society, Bill Gates, Albert Einstein, or Steve Jobs.  I see the faces of those who have forged through roadblocks and were forced to defend himself or herself, Rosa Parks, Mahatma Gandhi, or Anne Frank.  I think about countless others who lay their lives on the line daily protecting our streets, our communities, our countries.  

I personally do not feel comfortable being placed amongst these prestigious ranks.  The people I have mentioned have made a profound impact on millions upon billions of people.  They have redefined industries and caused ripple effects that have lasted decades beyond their times, they are visionaries.  When I think of myself, the word that comes to the forefront of my mind is "mom".

I am a mom of four beautiful children, three who are typical, and one who has CDKL5, a genetic disorder that will leave her with a lifetime battling seizures and profound developmental delays.  I will make decisions on all of my children's behalves until they are old enough to weigh in.  I will be an advocate for all of my children no matter their cognitive abilities.  I will defend my children in all situations.  I will love each of my children unconditionally, not because I am an inspiration, but because I am a mom.

I am a mom who makes mistakes daily, but who tries her best each day.  I may have to make decisions that you will never have to in your lifetime, but that does not make me any more of an inspiration than you.  I am sure you are faced with decisions that I am not.  Yes, I am a mom who is faced with tough challenges, but I am not alone, there are others on parallel journeys, others on journeys more difficult than mine.  I am not special.  I am a mom who will go to the ends of the earth, just like you, because that is what a mom does.  

While I appreciate your kind sentiment and am flattered that you hold me to such high esteem, I would like to ask, "Why am I considered to be inspirational?"  Is it because I have to watch my child endure minutes of daily seizures?  Is it because I have not publicly cracked under the insurmountable pressures of raising a child with special needs?  Is it because I do not place blame for the situation I am faced with, G-d included?  

While your words of encouragement, praise, and support offer me much needed support during my darker days.  I would like you to know that I am no-more an inspiration than YOU, the mom of one or multiple children; YOU, the mom of a typical child, YOU the mom of a special needs child; YOU, the mom of a child who is no longer physically present.  It may appear that I am an inspiration, but I assure you, I am not doing anything differently than YOU would do if you found yourself in my shoes. 

I am just a mom.  

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Lemons

 "When life gives you lemons, make lemonade".  

A proverbial phrase that came about to encourage people who find themselves in a less than ideal situation to turn it into something sweeter.  Something more desirable.  But what if instead of trying to make lemonade, we just learned to enjoy the lemon for what it truly is.  A fruit that is used for both culinary and non-culinary purposes.  A fruit where every part, both inside and out can be used in different situations.  A fruit that by itself serves a much bigger purpose than if it was only used to make lemonade or sweet dishes.

I personally feel that sometimes it is necessary to actually embrace the lemon.  To realize that the lemon provides the perfect amount of sour to keep us balanced.  That it provides that little extra something we may not even know we need.

When I think about Sonzee, this statement holds a new meaning.  I do not mean to compare my daughter to a sour fruit by any means.  She is amazing with who she is, and whoever she will become, but she is different.  Her complete package is not exactly complete.  Her daily seizures are sour to say the least, but they are part of her.  Her development, as we all know is not typical, but it is occurring.  Sure, I would love it if her life would be easier, less painful, less scary, and less dependent.  But, I enjoy all that I have been learning from her. 

Sometimes when life hands you lemons, you just need to sit back, take a big whiff of the amazing aroma, and be thankful you were handed such an amazingly versatile fruit. 

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