Thursday, July 30, 2015

What if?

In the morning on the day we were about to learn of the cause of Sonya's seizures, my mother walked into my bedroom with her eye shadow case in one hand and the brush in the other.  She looked at me and said "You told me if you knew the cause of Sonya's seizures you would be fine, that you just needed to know what you were dealing with, right?" My reply, "Yes, I just need to know", and she said "Okay, then soon you will know".

The first two weeks after we found out were pretty grim over here.  Sam and I both handled the information in different ways, as two different people with different personalities and different upbringings tend to do.  Me...I am the type that once I learn of something, I make a plan, follow the plan, and move on...I don't sit around dwelling, and I don't try and change things.  For me...Sonya has a mutation on her CDKL5 gene, great we know this is why she is having seizures, now let's move on.  As for Sam...well he is a fixer.  I think a lot of guys can relate to that.

So here we are...two people dealing with the same obstacle in different ways.  Neither one of us in my opinion is "right" or "wrong" for how we are handling things.  I personally find it "therapeutic" to spend my time diving into therapies and working on making Sonya reach her fullest potential.  I find each session to be rewarding in its own way, and I find that it makes me feel like I am actually doing something.  I cannot control the situation, this I know...I won't even begin to fool myself into thinking I can, so providing opportunities for Sonya to flourish is my perogative.  Sam finds it therapeutic to research countless articles, speak with parents of other kiddos with CDKL5 mutations, find out what drug trials are around if any.  He continues to see if he will be the one who can find a possible might be SOLUTION.

Yesterday Sam and I began our typical evening discussion of all things CDKL5.  We were talking about how Sam trying to find cures is great but in my opinion I like to work on the here and now...the current situation, not to the "dreamland".  He wants to focus on the future because what if there is a cure, what if he is a necessary component, a vital piece of the puzzle in solving CDKL5 and that is why Sonya was diagnosed.  So we continued our discussion and it led to the following.

"Nothing in life comes risk free.  Hypothetically speaking...a cure is found for CDKL5 and with this cure Sonya will have an increased QUALITY of life far better than anything she will have with all the therapies in the world but we are told, "Sonya will be cured but the side effect of the drug is that it decreases her lifespan....


Friday, July 24, 2015


If I played a "describe your family" game 5 months ago it would have gone something like this: my husband and children, my parents and siblings, Sam's parents and siblings, my nieces and nephews, cousins, and some close family friends.  If I played the same game today, it would like slightly different.

What exactly defines "family"?  Sure sharing DNA gives a commonality between people, but there are those people who fill the role of "family" not because they have to, but because you are drawn to each other for an unknown reason.  For whatever reason, you share a deep connection based on an experience, a similar belief, or for some unknown reason that only G-d knows at the time.  

Family members can continuously be gained throughout your life.  You might not be aware of it occurring, you might not be able to pinpoint the exact date or time, you might be able to, either way it happened.  

For example, when you are in 5th grade after moving to a new city and you meet a random 6th grader.  Or in college while talking for 30 minutes two days in a row because of the Greek lettering system.  While being involved in a religious community that you identify with.  When you got married, moved across the United States to a place not knowing anyone and bought a house next door to complete strangers.  Or that time you found yourself dealing with a difficult situation and you come home to baked goods randomly sitting on your doorstep.  Then there are the people you meet who are in your shoes and while the situation might not be exactly the same, the experience is pretty darn close.

These adopted family members are so special.  They have a choice every day whether they will stay in your life and whether they will be active or passive participants.  They choose to not write you off when you lose touch for years at a time.  They call you up to check in when you've been meaning to do it for weeks on end.  They reach out to you when you think no one is there.  They bring you coffee and send care packages.  They sit and talk for hours on end about topics that can be painful to themselves.

No matter who it's made up of, all family is important and all members are necessary to keep the unit afloat.  Us personally, well we happen to have won the lottery a second time when it comes to ours. 

Thank you!!

Sunday, July 19, 2015

Uncharted Waters

No matter the doctor there is always a form given asking basic "get to know you" questions.  Since Sonya is not 18, I am obviously the one who fills out her questionnaires.  What's her gender? Female.  Is she married or single? Single.  Is she Caucasian, African American, Non-Hispanic, or Pacific Islander? Caucasian.  I am always writing our address, emergency contact information, and phone number.  At the hospital they even ask for religious preference.  All of these questions result in answers that require no more thought to answer than the time it took for me to read them.  

The next section requires me to tell them the developmental history of Sonzee.  Is she sitting? No.  Does she roll front to back? Yes.  Does she roll back to front? No.  Does she roll side to side? No.  Can she tripod sit? No.  Is she crawling? No.  Does she coo? Yes.  Does she track objects visually? No.  There is always the same question that I feel requires more than a yes/no answer.  Does she have her social smile?  Well, if you mean does she smile if someone looks at her and does not talk then no, not really.  But if she hears a high pitch voice talking to her then yes; and if a person is blind then of course it would be considered a social smile if the child responded to a voice....right? 

To me anyone who would read her patient intake forms would have a fairly good idea that Sonzee is not typically developing.  She is doing an amazing job considering, but by no means would I want her "judged" against her same age peers.  However, I don't have her forms on display when we are at swim, at the store, or out in public.  

Lately, I have noticed the sideway glances of other parents in her swim classes giving her that extra look over.  The parents who look at Sonya and then look at their child, and know something is just not "kosher".  Sometimes I feel like they think to themselves "I wonder if her parents know".    

Yes, We do.

I am new to these uncharted waters.  While I wish they would just ask, I know most people don't know that they can.  Do I just tell them?  Do they really want to know?  How much information is appropriate to share?  Do I just hand them her "CDKL5 card" and tell them to follow her story?  I just don't know the proper etiquette for these types of situations.  I still haven't wrapped my head around the fact that I will have to deal with these situations forever.  That this IS my new TYPICAL.  That no matter how typical she looks on the outside...she is just NOT on the inside.  Still daily I find myself getting winded at the realization that no matter how many therapies she partakes in, she won't be ever be typical.  She might be "close", but she won't be like her siblings.  While I tell myself I am okay with that...I guess I still haven't crossed into acceptance


Tuesday, July 14, 2015

CDKL5 Phases of Seizure Activity 101

As mentioned in my previous post CDKL5 Genetics 101, a mutation on the CDKL5 gene causes negative repercussions within the brain.  Along with severe/profound developmental delay is of course the most visible "side effect"; seizures.   

Before I begin the "CDKL5 seizure guide", I will introduce you to some common epilepsy terms.
  1. EEG: Electroencephalogram: a test that measures and records electrical activity of the brain
  2. Abnormal EEG: When there are changes to the normal pattern of brain activity
  3. Hypsarrhythmia: is an abnormal pattern on the EEG occurring in-between seizure activity, frequently encountered in an infant diagnosed with infantile spasms
  4. Infantile Spasms: Clusters of short spasms that last several seconds and chaotic brain wave patterns on the EEG
  5. Tonic seizure: tone increases and arms/legs stiffen and straighten
  6. Refractory epilepsy: seizures that are not controlled with anti-epilepsy medications
The "CDKL5 seizure guide" can be broken down into three phases.  Early Epilepsy, Epileptic Encephalopathy, Late Multifocal and Myoclonic Epilepsy; Phase 1, Phase 2, and Phase 3 respectively. 

Phase 1
  • Brief seizures beginning between 1-10 weeks old
    • these seizures are less than 1 minute long
    • can occur frequently
      • approximately 2-5 a day
  • The background of the EEG is normal in majority of cases except when a seizure is occurring
 “Typical" Development for a child with CDKL5 mutation at this time
    • poor eye contact
    • low muscle tone
Phase 2
  • Infantile spasms 
  • Brief tonic seizures
  • Hypsarrythmia
 “Typical" Development for a child with CDKL5 mutation at this time
    • profound mental delays
    • low muscle tone
    • no language or visual interaction
    • no developmental progress
Phase 3
  • Severe refractory epilepsy even with the use of anti-epileptic medications
  • varied types of seizures 
 “Typical" Development for a child with CDKL5 mutation at this time
  • profound mental delays
  • low muscle tone
  • no language or visual interaction
  • slow developmental progress
** It is unclear if every child with a CDKL5 mutation will follow the course mentioned in this post...this is based off of recent studies done on seizures and children with CDKL5 mutations.

How does this relate to Sonya?

Right now we are finding ourselves in a sort of "holding pattern".  We seem to be in-between Phase 1 and Phase 2.  Sonya has "epileptic spasms", which are similar to the infantile spasms but with no hypsarrythmia.  She also has tonic seizures.  Typically she will have a seizure every 24-48 hours that lasts less than 3 minutes.  Occasionally this "one" seizure will present itself as a tonic seizure lasting 1 minute and then immediately followed by spasms lasting from 1-2 minutes.  During the spasms she has between 5-25 seizures within those 2-3 minutes.

There is a 50% chance that Sonya will never have the abnormal hypsarrythmia background. The treatment "options" we will be given at that time do not have a 100% success rate of eliminating the abnormal background, and the side effects can be fatal.  I will save that information for another days post.

I would much rather leave you with this gem.

Sunday, July 12, 2015

CDKL5 Genetics 101

As I start most of my posts... "before Sonya's diagnosis" ...I had no knowledge of genetics.  Since we learned of Sonya's CDKL5 diagnosis, we have met with a couple of amazing geneticists, so now I have a semi understanding of what occurred on her gene.  I realized that some of you might want to know yourselves, so I will attempt to share my knowledge.  After our recent visit to the Rett Clinic (they see CDKL5 patients 6 times a year since CDKL5 is considered Atypical Rett) in Denver, Colorado last week, I have gained even more information regarding Sonya's specific mutation.

Sonya has her own specific mutation.  There are rare instances where more than one child could have the same mutations, however, the way Sonya's mutated, it would be nearly impossible for anther CDKL5 gene to present in the same manner.

Like nearly all children with a CDKL5 mutation, Sonya's is de novo.  This is just a fancy way of saying the mutation was not passed down from either Sam or me.  It happened around the time of conception, randomly.  Why? We don't know.  It was not caused by anything I did or did not do.

Now to get down to the nitty gritty.

The CDKL5's main purpose is to ensure healthy brain cell function and communication with other brain cells. The CDKL5 protein is considered to be a large, efficient protein and is found all over the brain. Therefore any type of mutation to the CDKL5 gene is considered disastrous, as the protein being produced may for all intents and purposes be considered junk and not usable. 

If you think about a gene like a series of box cars lined up on a railroad track that is where I will begin.  Each box car carries information that is vital to the complete function of the train.  Many things can happen with the box cars that negatively impact the train.  For example, box cars could be removed from the track, there could be box cars added to the track or there could be box cars that are switched while on the track.  When any one of these things occurs, it has devastating results.

Let's talk about Sonya.  In Sonya's case, she had two box cars that were removed from the track.  Coming from a long line of over achievers, Sonya "realized" there was a mistake and tried to fix it by adding in an additional car to replace the two cars that had fallen off the track (that was unnecessary Sonzee, but we appreciate your efforts).  After this box car was added in, the remaining cars moved down the track.   

All genes have a predetermined "stop code".  When a series of numbers come together and repeat three times it signals to the gene that the shop is closed.  Unfortunately, when Sonya's replacement box car was added, it caused the remaining cars to be shifted down.  So shortly after Sonya's box car addition, the combination of the cars in the order they were placed on the railroad track created one of those stop codes.  This in turn ended the production of the CDKL5 gene and made whatever parts of the gene that were created essentially unable to perform their duties.

If you want more scientific terms, Sonya has a deletion and insertion in her CDKL5 gene that created a frameshift mutation which prematurely stopped the code of her CDKL5 gene.

What does this mean for the Sonzee?  Well, we are still unsure what the future holds for our little bear, but we do know that she will be able to learn new things, it will just take her 10000 times of performing the same skills over and over again for the skill to be learned.  She will have severe delays; however, with constant hard work, strength, and determination, she will be one amazing Sonzee bear!  Our biggest challenge, will be keeping her seizures "under control" so she can continue to move in an upward trajectory gaining skills.

Sonzee with Mr. Mike last week at PT

I have so much information to share from our visit to the Rett Clinic so stay tuned!

Thursday, July 9, 2015


I remember back in graduate school when I was studying to take the Praxis exam.  It was similar to my prep for the SATs.  I spent years learning the material, I took a multitude of classes, I bought huge books, I reviewed flash cards.  The practice exams give a range of the information you "might" find on the test.  You can spend hours learning information that isn't even included and no time learning what the test ended up including.  You don't find out that information until it's testing time.  Until you have read your last highlighted note and your last flash card, and you open your test book.  You hope and pray you got it right, that you spent your time learning the "right" stuff.

It is similar to becoming a parent.  You spend 9 months "preparing" yourself.  In some cases a nursery is created, names are determined, and clothing is purchased.  You buy diapers and wipes and take a birthing class.  The day comes...child birth is NOT like the movies.  You meet your precious baby, fumble holding him/her, learn the basics quickly, then the hospital bracelets are cut and off you go, no manual.  Just you, your spouse/partner, and this new creation embark into the unknown.  All of the "preparation" you have you hope to G-d pays off.  But again, you won't know if you spent your previous 9 months learning the "right" stuff until you reach certain moments along your journey.  

When Sonya was diagnosed, Sam and I took to researching everything CDKL5.  Sam watched countless videos of children have seizures to help "prepare" him, he has watched every "CDKL5" tagged YouTube video to "prepare" him for what Sonya might (not) be able to do.  I ask the doctors for best and worst case developmental scenarios for my "preparation".  I ask about medication options and what each side effect might be, and for alternatives if there are, so I can be "prepared" should the time come when we have to change medications or she has changes with her seizures.  

Then comes reality.

I was talking to my mother this week, and I had the sad realization that I can spend all my time researching and learning, but I won't ever be prepared to make some of the choices that lie ahead.  I won't ever be prepared for Sonya's developmental future.  Nothing can prepare me.  However, I am at that point where I have sharpened my #2 pencil, sat down at my desk, opened the test booklet, and have to trust myself and my knowledge, and pray that I have enough of a foundation to get it right.

Monday, July 6, 2015

Sweet sounds

As a self preservation tactic I have kept my expectations lower for the developmental milestones Sonya will meet.  This is certainly not to say that I don't push her or that I don't expect her to achieve goals, but rather a system I have psychologically put into place so that I don't get depressed watching typically developing children...develop.

The BEST part of doing this is that when she does something that I didn't expect her to do I am beyond elated!  Without further adieu I give you "small talk with Sonzee"...

Keep the surprises coming baby girl!!!