Wednesday, June 29, 2016

If I knew...

I try to shy away from controversial topics when writing my posts on Sonya's Story.  My intentions are to never insult a reader, fellow parent, friend, etc.  In doing so I tend to veer away from topics that might elicit some undesired negativity or hurt the feelings of one of our readers.  There is a part of me that feels as though there are times when ignoring thoughts due to their controversial nature is not only a disservice to myself, but to others who could potentially be feeling the same exact way but be too afraid to admit it aloud.  I feel as though Sonya's Story has morphed itself into a place that lends itself to openness and honesty, and is a place everyone appreciates the transparency.

As I have mentioned numerous times within my posts, being a parent of a child with CDKL5 is challenging on so many levels.  The thoughts and emotions that accompany this life are unfortunate, and honestly there are times where I cannot even imagine that something so horrific has even crossed my mind.  I try to convey to those of you who are not in a similar position the inner workings of my mind so you can possibly transport yourself into a different world, maybe get a better picture of the circumstances, and therefor appreciate the situations I find myself.  

I would like to emphasize that I love Sonzee with all of my heart.  I hope that message has been expressed enough for no reader to ever doubt that.  I love her the same way I love all of my children.  Her personality has won me over ten fold, and I could not imagine my life without her.  I could not imagine our family without her.  She has made such a lasting positive impact on so many and she is truly amazing.

This past week the following question has been fluttering through my mind...and if I am honest, it is not the first time.

If I knew my child in utero had a CDKL5 mutation, what would I have done? 

I have always considered myself a pro-choice type of a gal.  When Sam and I were dating of course the topic came up.  When he asked, "would you have an abortion?"  My reply to him was, "Me, myself?  Well, no.  But who am I to tell another woman she can't?"  I have no ill judgement towards those who might have to choose differently than myself.  Never in my mind could I entertain a situation that might cause me to need to choose differently.  Getting pregnant for me was always something that actually needed trying.  I have never been one of those "Sam looks at me and bam it happens", so each time the two lines popped up on those Early Pregnancy Tests, having sheer disbelief mixed with utter excitement is an understatement of the celebration that occurred.  We always did the basic testing while pregnant, but it was more so I could please the Type A in me and "prepare and plan".  The tests are for syndromes that are more common, like Spina Bifida, Down syndrome, and a list of Trisomy’s.  The tests have always come back negative, and so I never had to do any "preparations".  

When I think about what would have happened if we learned about Sonzee's diagnosis prior to her birth it goes a little something like this.  We would have sat in a small office with a doctor who would have delivered the news that our unborn child has a mutation on his/her CDKL5 gene.  They would have said they did not know much about it, but that it occurs more often in girls than boys, but if the baby was a boy, "odds" are the baby would not survive or would have less of a quality of life than a girl would.  (They would base this strictly on the fact that there are more girls than boys with mutations on CDKL5 genes, because it is an X-linked dominant gene and boys only have one of those).  After learning this I would need to forgo not knowing the gender and find out if we were having a boy or girl.  We would have learned that our fourth baby was a girl, not the boy that we had thought, because we already had 2 girls and 1 boy, so of course "our 4th was going to be a boy".  We would have left the doctor's office dumbfounded, numb, in shock, but still with a glimpse of hope.  Then I would have googled CDKL5 and would have broken down after reading the words "uncontrollable seizures", "severe to profound learning disabilities", "most cannot walk, talk, or eat by themselves".  We would have turned to Facebook, looked up other children’s pages, and watched YouTube videos of other children.  We would have reached out to the parents of children who appeared to be "more advanced" to play devil’s advocate, to give ourselves some hope, to help us make the "best decision".  We would have spent hours wondering "what if" in every capacity of the term.  "What if the doctors are wrong?", "What if our child will be different", "and What if it isn't so bad?”

Then what would we have done?

Sonzee has been a part of our lives for 16 months.  These past 16 months have been nothing short of an adventure, to say the least.  I have experienced emotions I never knew existed, and I am sure I will experience ones in the future that I am unaware of.  There have been some amazing moments, happy moments, and even beautiful moments.  Some of those moments are forced into my mind to cushion the blow of this horrible mutation.  To "look at the bright side" if you will.  However, there is so much pain and heartache.  I often find myself wondering what I would tell a pregnant woman who found out her unborn child had a CDKL5 mutation and asked me my opinion on what to do.

I cannot, in good conscious, tell another mother that watching her child suffer daily is a recommendation.  I cannot even say the good days will outweigh the bad, because those are sometimes numbered and far and few between.  I cannot tell a mother they will enjoy the heartache, the pain, the fear, the endless amount of "I can't even put the thoughts into words" that will accompany this child into the world.  There is absolutely NOTHING I could tell a mother that could soften the blow of what life will be like with a child who has a CDKL5 mutation.

If I put the selfish reasons aside, and I think about the unborn child in question does my answer change?  If I knew in advance of all of the complications that Sonzee would face, would I want her to endure them?  Would it be selfish of me to allow my child to suffer?  Would I want this for myself, for my life?  Would that even be motherly?  

BUT how can I possibly tell another woman to not take the risk?  How could I explain that the milestones her child will achieve will bring such an indescribable amount of joy, a type of joy that others who do not have a child with special needs would be jealous of because they just simply cannot understand.  The highs will be higher than anything she will ever experience.  The amount of time she will have to dedicate to help those little milestones become mastered will be worth it, and so will the wait for them to occur.  How can I tell her how much fun it is to celebrate literally EVERYTHING?  (Etsy makes a celebratory gadget for every. single. thing.)  How do I explain all the positives that are easily overshadowed by the obvious negatives?  How do I explain that Sonze has touched so many lives and that the majority of people do not even realize there is something different about her, but just that she is a beautiful little girl.

A life with CDKL5 is hard.  Parenting a child with CDKL5 is not something I would have asked for.  Thankfully, for me, I will not ever have to know what I would have done, because I could not imagine our world without the Sonzee Bear.

***The dialogue you have just read is representative of my experience in raising Sonzee who has a CDKL5 mutation.  These thoughts are based purely on my experience as her mother.  Every parent of a child who has a CDKL5 mutation has a different experience and therefore this post cannot be used to represent the entire CDKL5 parent population***

Thursday, June 23, 2016


It is close to midnight and my eyes are so tired that it is a constant battle to keep them open.  It is getting to the point that the blurry vision is getting more challenging to blink away.  Each blink clears them up a bit, but then within a millisecond, they are fighting the weight again and I have to blink multiple times and rub them to be able to focus.  Now comes the million dollar question, Why am I still awake?

Since adulthood, I have never been the best sleeper.  Scratch that, since I became a mom I have honestly lost all capabilities of going to sleep, and forget staying asleep.  We can casually blame it on nerves, worrying, the fact that nighttime is the only time I can get things done, and the fun fact that 50% of my children prefer to sneak into my bed multiple times throughout the night, steal the blankets, take over my space, and hope I do not notice their presence.  If I am honest, those are all fancy excuses for the fact that nighttime is the time I get most of my inspiration in terms of my blog posts.  It is the time I am most in touch with my emotions, the time I allow myself to reflect on the day, and the time I am able to decompress and process everything that is going on within my life and around me.

Tonight as I sat in front of the computer screen trying to figure out what I wanted to share, I started to think about the events of this past week.  In a short summary our house air conditioner broke on Sunday, our cars compressor melted (YES IT MELTED) on Monday, and our brand new car's (that we purchased Tuesday) air conditioner fizzled out on Wednesday.  Looking back at the past 4 days, I am left with my usual mixture of emotions.  

  • Thankful that if something had to happen it was to inanimate objects and not Sonzee or one of our other children.  
  • Amazed that if we did not have questionable luck we really would not have any luck.  (<-which reminds me, we REALLY need to start playing the lottery, because our chances of winning are surely MORE than the amount of rare things that can occur to one family).  
  • Numb.
  • Confused by how I feel about it all.
When I think about me prior to Sonzee, I think of how my reaction to this past week of events would have been very different.  Maybe better in some ways, but not in others.  I think how I probably would have been so excited that Sam actually went out and bought me a NEW 2016 vehicle, not a used one.  If you knew Sam, this is HUGE.  Yet, I am not excited I am honestly indifferent.  I am angry with myself for not doing a happy dance down the street, but the truth is, I am incapable of getting excited about such an "insignificant" thing.  It is a car.  I think how "not normal" it is that when replaying the events aloud I actually said, "Well, if bad things had to happen at least it wasn't Sonzee dying".  (<-because that is a normal parent thought)  I think how I might have gotten more mad prior to Sonze, but overall, I just do not care.  

To be honest, what bothers me more than anything else is that I am numb.  I miss feeling more normal.  I think how I am just a shell of the person I once was.  I have some parts of me that are the same, but a huge part of me is no longer here.  I wonder if it will ever return.  I keep wondering if I am supposed to go back to the old me, or was the old me not who am I supposed to be?  Is one of my tasks simply to be able to overcome all these obstacles AND find my way back to myself, or am I supposed to become something better?  Just to give you a sneak peek into the workings of my tired brain, I will leave you with three quotes that represent my current thoughts...

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Monday, June 20, 2016

Religious doubts

Lately I have been reading many comments on the personal pages as well as public pages of children who are diagnosed with CDKL5, Rett disorder, and other types of neurological/degenerative types of disorders.  Typically, the main post will be a vent of sorts from the parent regarding how challenging things are and that they are about to lose, have lost, or are on verge of losing their faith in G-d.  As I scroll through the replies to these posts, I see the same types of words written throughout.  The majority of them include nudges to not totally give up faith, a handful are of people who have already lost faith themselves and they just type, “I have been there” and “you are not alone”, and a handful are from those more fervent believers.  The type of people who feel it is their job to remind the poster that they should never give up on G-d, that G-d has not abandoned them, and the list continues on with similar sentiments.  What I can say from a religious parent of a child with CDKL5 is, “I get it, you are not alone, and some days I am unsure myself where I stand with G-d”. 

Regardless of your religious affiliation, regardless if you are the most devout person in the world, unless you are the parents of a child with CDKL5 or any other special needs child you do NOT get it.  You might be a grandparent, a sibling, an extended family member, you might even live in the same house as the child diagnosed, but if you are NOT the parent, then you have NO idea the emotions that a journey like this can entail.  Even if you are a parent with a child with the same diagnosis or one that is similar, you still have NO idea what each individual parent is feeling in their specific case.  This does not mean your support is not wanted.  This does not mean that your views are invalid.  What it does mean though is you need to respect that faith can waiver when you are placed in the deepest of darkest holes.  It is OKAY to doubt your G-d, it is OKAY to question him, it is OKAY to hate him, and it is OKAY to walk away from him for a while.

You see the thing about G-d is that he will always be there.  He will never turn his back on you for good.  He is one of those annoying parents that will be there behind the door that you slammed waiting for when you are ready to rejoin him.  Every doubt that you have, every struggle you have, every curse you scream at him, it just shows that deep down you actually care enough about him to have these feelings.  It shows how much trust you once had in him to be this hurt by the fact that you are at your wits end, that you are at your rock bottom, that you have simply met your personal quota of crap that you can take in this lifetime.  It means you are human because your child has a diagnosis that literally rips your heart to shreds and you just can’t fathom how a G-d you have put so much faith into, could allow something like this to occur. 

To those of you who comment that G-d doesn’t give you more than you can handle….if you were in the position of watching your child suffer literally 24/7, are those words really going to cheer you up?  Are these words going to provide you comfort as you watch your child seize for minutes on end?  Will you feel special because you can handle watching your child get scarily close to death (or in some cases actually watch them die)?  As a parent who can attest to being privy to all but one of the above statements to date, I can tell you that my personal thoughts on this are, “Thank you so much G-d for my ability to handle this”. (<-insert sarcasm).  Let me tell you that it is fabulous that G-d finds me strong enough to watch Sonzee have daily seizures.  I am grinning ear to ear that I am capable of watching her scream in pain for minutes to hours on end, but be unsure what to do about it because she is unable to communicate with me what is exactly bothering her.  It makes me feel like the happiest mom on earth that I am able to watch her struggle to achieve basic milestones such as holding her head up.  My most appreciative thoughts are that he thinks so highly of me that I will become part of the elite group who is worthy of being able to handle the absolute worst, that he thinks I am the type of person that will be able to handle the situation of most probably having to bury my child. 

I know as a religious person I am supposed to be able to turn to G-d and cry to him and feel wrapped with endless amounts of love and compassion because he has a bigger plan.  I know I am supposed to be able to get angry with him because pouring my heart into prayer will make me feel like I am doing something to actually help Sonzee.  I know that the Sonzee chapter of my book is supposed to be one that helps my soul as well as hers elevate to its rightful position.  I know that there are others who have walked a similar path to mine, and I would bet at some point they might have doubted where they stand with G-d and maybe they still do or maybe they have moved passed.  Yes I am well aware that everyone has their own personal struggles and hardships, but let me ask you this, apples to apples with all things considered, if you were a special needs parent to a child with a CDKL5 (or similar type) disorder would you be so quick to tell another parent they have no right to doubt G-d?

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Wednesday, June 15, 2016


I have always been aware that this journey would follow a similar pattern to that of a grieving cycle.  I understand that the stages of grief can become blurry and that at one-second there can be feelings of acceptance and then snap, the feelings can quickly change to feelings of sadness.  Throughout the last 15 months, I have allowed myself to feel depressed; I have attempted to control the situation by thinking if I was better or changed my ways than maybe a different outcome would occur.  I have “come to terms” with all of the various courses of treatment we have had to try, as well as allowed myself to face the realities of the potential possibilities.  I have allowed myself to enter into the fantasyland of denial, because let us be honest, it is much more fun to dance among the stars.  What I have tried my hardest to do during these past 15 months is to place my anger on the backburner. 

I have had many a conversation with myself (you know you all do that too) rationalizing that getting angry does not serve a purpose, that it won’t change things and it is just a waste of my time and energy.  If I allow myself to be angry, that would indicate there is a person or thing to be held accountable.  (Sometimes I think it would be so much easier if that were the case).  I can justify why being angry is useless, why it will just make me bitter and well, obviously even angrier.  I can list hundreds of reasons why I should not feel angry, but what is becoming increasingly difficult is actually buying into my own logic.

The worst thing about giving into being angry is that I am even angrier with myself for doing so.  At least when I am in denial I can enjoy the moment while I daydream.  When I am bargaining with G-d for a change, I feel proactive, as if I am doing something that WILL help the situation; that will help Sonze.  When I get depressed, I can cry and tell myself that it is all part of the process and that it is necessary because this situation is sad.  However, getting angry, it does absolutely NOTHING.

There is NO tangible reason why my child has a mutation on her CDKL5 gene.  I am not even privy to a spiritual or philosophical reason for that matter either, and probably never will be during this lifetime.  There ARE not people, nor even ONE single person that can be blamed for the frameshift mutation on exon 9 of Sonzee’s CDKL5 gene.  There is NO one I can point a finger at, NO ONE to direct my anger to, No one that is, except G-d.

The spiritual part of me accepts that Sonzee’s CDKL5 mutation has more to do with her soul and its specific purpose here on earth.  The spiritual part of me truly believes that my job is simply to assist Sonzee as she fulfills whatever it is that her soul’s mission needs to complete before leaving this earth.  The spiritual part of me knows that neither she nor any of my children are actually mine, and they are all simply here in my care for me to help them do what they each need to do during their lives.  Then again, I am human.  There is that pesky human side of things, constantly getting in the way.  The human part of me is what is so angry.  Angry that I am forced to watch my child have seizures, pain, and constant daily struggles. I am angry that I do not even have anyone or anything to blame for my current predicament.  I am angry that this situation challenges me in every way imaginable.  I am angry that this situation has left me doubting my beliefs, my feelings, and myself in general.  Since my human side seems to be winning in this spiritual/human battle, it would be nice if my anger would be a benefit to Sonze, because if that would be the case, I can assure you her CDKL5 frameshift would be undone and she would no longer have a mutation on her CDKL5 gene.

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Friday, June 10, 2016


One of the best things about this blog is that it allows me to go back to a specific time and see what my actual thoughts were at a specific point on this journey.  As I begin to read the first sentence of my previous posts I am actually transported back in time to the exact moment I wrote the words for the first time.  The brain is such a fascinating tool in that sense, capable of triggering memories so vividly and easily.  When I read some of my posts I think about how the feelings I had are still the same to me now.  There are a lot of posts that still leave me unsure, while others leave me almost annoyed with how naive I once was.  I guess all the emotions are just a true representation of the stages a person can go through while on a journey such as this one.  The good, the bad, the ugly...but all the truth.

Prior to beginning this post I decided to view some of my writings from last June.  "Wonder", "Hope", "Experience", just three examples of the names of posts written during CDKL5 Awareness month in 2015.  It is a year later and I could easily write sequels to each one, but they would probably be headed in completely different directions.  When I read my older posts I can almost believe the actual hope and the actual belief in a miracle I once had.  I can still feel the certainty I once had that Sonzee would defy the odds and she would excel in areas that previously diagnosis children had not.  Part of me pities my older self for thinking those words could actually become our reality, Sonzee's reality.  The other part of me is so angry that I no longer have faith in those wishful words.  

I actually feel ashamed for admitting that aloud.  It makes me feel like a bad person for acknowledging that I currently don't have any hope or belief in a cure for Sonze, or that I actually do not expect her to defy the odds.  It makes me feel so weak, like I have let this disorder take the dreamer out of me.  It makes me feel like I am letting people down because I am not as strong as people consider me to be.  Then on the flip side I feel justified that I am not living in a fantasy land of maybes, could be's, or what ifs.  That doesn't do any good for myself, for our family, or especially for Sonze.  It makes me feel strong that I am able to be honest and realistic about such a devastating disorder and not sleep away my life or want to hide away from the world.  It makes me feel like I am letting people know it is okay to be true to their feelings and that there is no correct way to deal with a diagnosis such as a CDKL5 mutation.

This ride is turning into more of a "Tower of Terror" experience.  Moving around on the ground floor, then going upwards until finally you are located in the elevator shaft.  You brace yourself ready for the great 13 floor drop only for the drop sequence to be randomized for each elevator car.  So you find yourself going up and down never really certain how far you will actually drop each time or how many times you will fall during your single ride.  One thing is certain, you will eventually fall 199 feet and land safely at the bottom of the elevator shaft.

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Wednesday, June 8, 2016

Different, but the Same

I have been unsure of what I feel like writing these last couple of days.  It is not for a lack of the running commentary through my head, but more of I cannot figure out what thought I want to expand on the most.  As I have been dillydallying on a current post I have been rereading and even reposting some of the ones from last year that those of you new to our journey might not have read.  So much has changed since June 8, 2015, yet so much is the same.  One whole year has gone by and when I look at Sonze for a brief moment, it dawns on me that my 15lb “baby” is just about two months shy of being a year and a half old. 

The reality of how things have changed around me usually occurs after scrolling through my Facebook feed and seeing the pictures of my friends adorable children walking, pushing toys, interacting, and just being so toddlerish cute.  Then that gentle reminder sets in that Sonze either is a couple of days or weeks older, or was born within a month of that child.  I often forget because when I look at her, she still looks like she did when she was about seven months old.  Trust me when I say that seeing these other children does not make me envious, but more it bring out “the curious”.  To be honest it has been awhile since I took that trip down fantasy lane wondering what LIFE would be like if Sonze did not have a CDKL5 mutation, what SHE would be like.  I am pretty sure my brain has blocked this from occurring frequently to spare me of the pain that accompanies these thoughts, because if I am honest, it hurts.

I absolutely adore our little bear’s personality.  It brightens my day when she has one of her “on” days.  The way she smirks, the way she interacts with others, the way she entertains herself, the way she is just a happy and content baby when she is not in pain or bothered by anything, they all create the best Sonzee Bear.  However, if I close my eyes ever so slightly I can see a petit little dirty blonde, blue-eyed girl running and playing with her siblings trying to be part of the commotion.  I can hear her say “aba”, because that is the correct name to learn first in this house, as Sam has trained all of the kids and I do not argue because as a result “aaabbbbaaa” is who they call for at 3am.  (I know, I really am smart)  I can imagine her oldest sister including her in everything because after all, she is her twin girl.  Life would be crazy for so many other reasons, it would be a different kind of joyous, and I would be drinking skinny girl margaritas for other reasons.

Along with these thoughts that I need to acknowledge in order to have some space from them for a while, it dawned on me that soon she will be two.  Time is flying by in a way that I cannot even process.  I used to want time to stand still so I could savor the little moments, so I could bottle up the cuteness that occurred with each child at certain stages.  With Sonze, I want time to stand still, but it is more due to panic.  Panic that if I do not stop the clock, the time will keep ticking by, but she will just fall further and further into the rabbit hole.  As time goes by, she will continue to get further from the expectations of her age.  While I accept what a CDKL5 mutation does to a child’s progress, and while I will love Sonzee no matter what and I will support her development whichever ways it occurs, my heartaches for the things that will be different, but exactly the same.

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Wednesday, June 1, 2016


Phoenix Children's Hospital is a beautiful tower that you can see from many locations throughout the Phoenix area.  Prior to Sonzee, I could count the number of times I had visited, and only one of those times involved staying over.  With our son's congenital heart defect, we go on a routine basis simply to check in, and after his adenoids and tonsils were removed when he was three, he was required to stay for 24-hour observation.  When we used to drive past the hospital while on the highway, our son would point and say, "Look, it's my hospital".  Before Sonzee, when our son would say those words I would agree, but in the back of my mind I would think how he had no idea what taking ownership of such a place, of "his hospital" even meant.

I used to look at the gorgeous building and think about what went on behind the windows and changing LED lights.  A stationary building that looks empty except for the light in random windows at night.  It was not wondering in the sense that I wanted to actually know what went on inside the walls; it was more of a melancholy feeling that overtook me thinking about the sadness of the types of children that required this type of establishment.  I had known a handful of stories of families who lived a hospital life while carrying for children who were sick and it always broke my heart.  In the back of my mind, I would pay a sort of respect to those in the hospital while I was driving by, but I was merely an unknowing outsider.  

There is no way to possibly comprehend the magnitude of the power that is held inside a building so simple and so grand looking.  There is the physical beauty combined with the fact that this entire building’s purpose is dedicated to helping save children’s lives.  A giant chandelier hangs in the entry of the main tower.  It doesn't matter the amount of times I walk in and out, I always wonder how could they have possibly hung something so huge and dainty without it dropping to the floor and shattering?  The main lobby wall is covered with floor to ceiling glass windows.  It is almost ironic that the separating partition between the outside and hospital worlds is the large clear windows that essentially trap you inside a type of hell, as if to taunt you.  On each floor, each elevator area has a unique statue placed in front of a series of windows that give you picturesque views of the entire valley.  The rooms are bigger than the basic cruise ship room complete with a personal bathroom and are all private, which is a good thing for the many times you will undoubtedly break down in the shower.

Many times a day I catch myself just watching the flight path of the planes taking off and landing from Sky Harbor Airport.  Sonzee's room faces the south central portion of Phoenix with a view of many parking areas, ambulatory buildings, and the fire station.  This fire station has always been a source of contention for me.  It has the word HOPE facing up towards the rooms in huge white block letters.  I distinctly remember the first day she was admitted when she was 4 weeks old and her room faced that sign.  I took a picture of the word and actually felt myself receive some inner strength.  A year and 2 months later in a different room but same view, I find myself just staring at that word and feeling overwhelmed with every emotion except the naivety that such a word could bring. 

The word HOPE used to take on a different meaning when I was an outsider.  As an outsider, I spent my time with a secret hope to never have to know what it was like to be privy to the inner workings of living a life that involves routine hospitalizations.  As an outsider, I would spend my car rides daydreaming and hoping to never need to know what truly goes on inside the walls of a children's hospital.  As an outsider, I would feel a brief sting when I learned of other families who were unfortunately joining the ranks of a hospital life, but I was definitely in a world of ignorant bliss.  I miss being an outsider. 

Interestingly being an insider makes me feel like a more well rounded person.  I cannot understand the battles of all the families I have met in the playroom or the hallway.  Nor do I have an idea of what they are specifically going through, yet at the same time, I have a different appreciation for their personal circumstances.  As an insider, I completely understand the extra 2-minute hesitation while ordering a morning Starbucks beverage and the need to go sit on a couch and just play on my phone for long periods.  As an insider, I understand the emotion that is hidden behind the outward expressions that caregivers wear on their faces.  As an insider, I can tell when it’s a parents first time in the surgery waiting area; which means I also don’t feel awkward giving them a hug and letting them know it’s okay to cry.  As an insider, I have deeper clarity and can appreciate more while judging a lot less.

However, truth be told, I would much rather I was an outsider.

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