Grief

I learned about counseling families in graduate school.  How each family that has a child diagnosed with a hearing loss or a disability that is taking away their child's potential to talk or communicate among other things, has to go through a period of grief.  

When Sonya was diagnosed with epilepsy I told myself it was ok to grieve.  It was normal to mourn the loss of "my perfectly healthy baby".  So many emotions came flooding all at once.  Fear, panic, shock, disbelief, sadness.

I remember the day before we learned of her CDKL5 diagnosis I was talking to my best friend.  I told her that Sonya's neurologist called and told me she had news she wanted to tell us.  I remember telling her (trying to hold back tears) that it couldn't be good...and what if Sonya never knew me?  What if days went by and she didn't even know she was alive? What if she was a baby forever?

I could tell she too was holding back her tears, but she managed to say "You know Randi, how lucky you will be if she is at home with you forever.  A lot of people have a difficult time with their kids growing up and moving out, and you'll get to keep Sonya at home forever."  I have to be honest, 1. I hadn't thought of it like that before and 2. I wasn't really ready to accept that...I was so scared of that actually.

Fast forward a couple of months.  I went to the amazing parent support group at the AZ school for the deaf and blind.  There are kiddos who have all different diagnoses, and parents of kids who vary in age and stage in their individual disorders.  There was a new mom who expressed her same emotion of sadness at the fact that her daughter would most likely be a baby forever.  I nodded along with tears in my eyes.  I understand you my eyes said from across the room.  There was a husband and wife team there as well.  Normally the husband is unable to come, but this time he came.  He said "you know, we have 4 kids, our older kids, they don't want to cuddle, they don't want to be near us sometimes, they are grown up...but "Sarah" (change of name for privacy) she is our baby forever.  We appreciate so much more because of her.  We see more beauty because of her.  She is a blessing.  When we want to cuddle, we have her".  This time again with tears in my eyes, but with a crooked smile from across the room, I nodded, as if to say, "what he said".

Balance

When I first became a mom back in 2010 I had no idea what I was doing.  Our first daughter came after a pretty stressful, high risk pregnancy, and so by the time she was born we felt a sense of relief that she made it and was healthy.  I remember how we had spent weeks taking a child birth class, made it through an extremely eventful 5 day induced labor/delivery, and then were given this little 5lb 5oz beauty and in a split second we were supposed to know what to do.  I distinctly remember thinking..."now what?!?".  My mother came to help, my mother in law came to help, my best friend came to help, and slowly life became less scary and more manageable. 

18 months later, our little man came into the world.  Another high risk pregnancy in the books, and this time we learned our son would be born with a congenital heart defect.  I remember being scared and numb at the same time.  Thinking back, I don't remember wondering how it would impact our first child or us, we just went with the punches.  Thankfully his NICU stay was brief and we came home within 3 days.  Now life with two kiddos was crazy at first.  While I was pregnant I received the best advice from a mom in one of our daughters activities.  "Having two children is crazy, and don't expect things to settle down for the first 5-6 months".  During the first 5 months after our son was born I would remind myself of this saying all the time.  I was petrified to go out with the two of them.  I didn't quite get how to juggle two little kids.  Then one day, it happened, and I looked at my son and he was 6 months, and I said to myself "AHA...yup, I got this."

22 months after welcoming our son, our 2nd daughter was born.  We were so nervous throughout the pregnancy wondering how on earth were we going to raise 3 kiddos 3 and under...wow we are crazy we thought.  I had sheer panic. We didn't even deal with the pregnancy, only talking about it when people asked us, and figured when the baby was born we would face the facts.  Then our little fireball was born and we learned to literally juggle.  Scary as it was, we eventually got into the grove.  Life became "easy".  So easy we thought, "what's one more?!"

Another 20 months later, Sonzee was born.  The number one question I have been asked by those who know about her diagnosis is "how do you do it having 3 other children".  It comes down to one word: "balance".  The same balance I had to find after each child was added to our family.

Having Sonzee and 3 other kiddos to me is the same as having just 4 children.  I can tell you that the 3 other children make a lot of things easier for me.  For example,  it is much easier for me to see other children Sonzee's age and not get upset about her development...I have a daily reminder about what's typical.  With 4 kiddos schedules to balance, I don't have the time or strength to spend it dwelling on things I have no control over.  

The challenges I face are similar to every other "mom of 4".  Each of our children has their own special and unique needs.  They all require attention and love.  They all have activities and appointments to go to.  A family of 6 in general requires planning, organization, and balance.

As Sonzee inches closer to being 6 months, even with everything going on, I too am inching closer to achieving that "sigh"...that overall feeling of being in balance where I realize I can do this.

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....

IS IT WORTH IT?  WOULD YOU DO IT?"

Family

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!!

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. 

  

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

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** 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.
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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.

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!

Preparations

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.

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"...

http://youtu.be/TGj8O8pZjxg

Keep the surprises coming baby girl!!!

Words

On Friday while Sonya's brother was at camp, the girls and I went grocery shopping.  I had Sonya in the baby ktan and her sisters were in the cozy coupe shopping cart.  We made it a solid 15 minutes before Sonya started screaming and the girls began invading each other's territories with their limbs causing one or both to whine continuously until I threatened to remove one and make her walk.

By the time I made it to the checkout counter I had already lost what little patience I began with and had dialed Sam twice (he luckily did not answer) to tell him with screaming baby in full force, this is the exact reason I do not like to go grocery shopping.  I pushed my cart into the line behind another mom who's children were also in the cozy coupe.  She of course turned around and gave me a pity smile (yes Sonya was still screaming), saw the girls, and matter of factly said "oh do you have your hands full"..."I remember those days".  

I did my typical smirk and shrug response to that statement, but gave Sonya a quick kiss on the head and thought to myself "if only you knew".  Normally little statements like these do not bother me, but lately when someone says something  "innocent" it holds a deeper meaning.  Truth be told if I had only had Sonya with me she wouldn't have said it.  Does that mean a mom with one child doesn't have her hands full?  They are just words, just a social nicety. 

I know this woman meant nothing by her words other than to acknowlege "hey, we have all been there, we've all had the screaming kiddo and this too shall pass".  Similar to the kind grandma and older man that Sam and I encountered on two separate occasions stating that we should enjoy the moments now because in a blink the kids will be 18 and moving out of the house...if only they knew.

Having Sonya has definitely made me more aware of others in regards to giving that extra thought before I speak.  It is not to say I walk on eggshells before I say something, but I try and be extra sensitive to others situations.  Nothing stings more than asking a mom when she'll have more kids when she is secretly battling secondary infertility.  Or asking a mom how many kids she has when she has just buried one.  These are both examples where unless you know these people on another level you wouldn't be privy to their struggles.  

Sam and I like to pull the positives, we like to embrace the good times.  We like to "brag" about Sonya's accomplishments because she is doing amazing.   I don't like to write about her seizure activity or what she is not able to do.  I do not fault those who say the "innocent" phrases, I know looking at Sonya gives a false sense of "normal".  I guess that's what makes it sting more.  The assumption that "maybe the doctors got it wrong" or "maybe it won't be as bad as you think".  But, no they didn't, and yes it will be.