I am taking time out from my extensive to-do list for today, to self-medicate-through-blogging.

Let’s get really real for a second.  It’s been a rough week.  I don’t mean since the week started yesterday or this morning – I mean since last Monday, the last seven days, it’s been rough.

I don’t know what’s up with Kiran for sure, but he has been … you know, it’s almost like he entered the terrible twos but in his time, now, at age three.  Almost.  The hair-pulling, which I have been trying to teach him is not okay for the past two years – this week, it just seems like it was way worse.  I don’t know that it actually was, given everything else I’m about to get into.

The glasses.  Kiran had been doing SO well leaving his glasses on his face and not messing with them.  This week, it’s been a constant battle.  It’s almost like when he first got them – he is constantly taking them off, and they go – guess where? – straight to the mouth.  I’m the mom, so I win every battle, but man, sometimes I get tired of fighting them.  I know consistent redirection is important for him to understand and learn appropriate behaviors, so I do my best.  When it gets really bad and we both need a break, I put them back on after the fifth or sixth time he’s taken them off in a row, and then I say, “Okay, let’s take a break.  Glasses off.”  And then *I* take them off.  Cause again, I’m the mom, and if we are going to get anywhere with this, he has to understand that he doesn’t get to just arbitrarily choose to take his glasses off and leave them off.

Who knows if I’m handling anything correctly.  It’s been two years and I’ve tried several different techniques, and he still pulls my hair 873,462 times a day.  I am beginning new habits with this one.  One of the worst times is when I put him in his bed – that’s when he grabs on, hard, at the base, and grabs my glasses off, and – it’s just a mess.  This week, I started actually holding him close and pinning his arms under mine while I lay him down.  It takes some getting used to, but I know that not only can he not grab my hair then, but it’s also easier on my back doing it that way.

I brag about Kiran’s sleeping often.  He has always been such a good sleeper.  This week?  He has apparently decided 5-5:30 am is his new wake-up time.  This mama has always been adamant that we don’t get up before 6 am at my house.  6 am is early enough.  This morning, he decided to up his game by somehow (I actually think I know how) falling out of his bed and onto the floor.  Mind you, he gave no indication that this happened – I didn’t hear it, he didn’t cry or fuss – he was just in there, chatting like he always does, starting about 5:15.  I ignored him, like I always do, and walked into his room at 6, only to find him on the floor.  Talk about mom guilt.  He hugged me hard for a long time.  He’s good at playing up the mom guilt.  So now I’m solutioning my way through that.

And guess what else?  What is the single biggest rollercoaster we are constantly going on with Kiran?  Oral eating.  He had been doing really well.  So well.  And this week – he’s coughing at pretty much every single meal.  He isn’t as eager to eat as he has been.  He’s even had some issues with his nectar thick water, which doesn’t generally happen at all.  And I have even actually heard him swallow wrong a couple times this week.  It is scary, and it is SO discouraging.  I feel like we have taken a giant step backwards this week, and I have no idea why.  I haven’t been doing anything different – and in fact, I have started backing way off and even skipping some oral meals to give both he and I a break – but it makes me nervous going into feeding therapy tomorrow.

But really, the biggest thing about the past seven days, as I was dealing with all of these things and all of the regular things – and not getting really a break at all because his dad was out of town – in the back of my head, because of the genetic results, all I could think is: “Am I going to be able to do this for the rest of my life?”  What if pulling my hair is just a behavior he will always do, because he never quite grasps that it hurts me?  What if he is non-verbal forever, and I will have to constantly guess what each behavior means – why is he pulling his glasses off every five minutes?  Why doesn’t he want to eat when he’s been so eager?  How did he fall out of his bed?

I know the genetic results were inconclusive.  We don’t know anything for sure.  Our wonderful genetic counselor has reminded me several times, and my own brain has to keep jumping in and reminding me as well.  But the biggest fear that comes from what we do know, about these five other patients with gene mutations in the same gene….is that all five had “absence of speech”.  Of the six kids (including Kiran) who have been identified with a gene misspelling in RAB11B, ranging in age from 3 (Kiran) up to 13 (one of the others, when the data was collected), all of them are non-verbal.

I want to be positive about this.  Optimistic.  I knew it was a possibility Kiran would never talk – it’s been something I have grappled with for the past year as we found out more about his body.  And we won’t stop speech therapy – we won’t stop working toward speech or other alternative forms of communication.  We aren’t ever going to give up on Kiran.  Even if it was definitive; even if a doctor said to me “Kiran will never speak.”  It wouldn’t change what we do for him, to help him progress and learn ways to communicate with us.

But it is an overwhelming thing to come face-to-face with.  It does break my heart.  And it does bring up a lot of fear for me, about the future.  His future.  My future with him.

I am overwhelmed.  There is so much uncharted territory we are coming into.  Things are constantly changing with him lately, it seems.  We have logistics to figure out within the home, we have equipment needs to figure out for him, feeding is an ever-changing challenge, and it just feels like we have added some heavy diagnoses this past year.

I struggle with change and I struggle with uncertainty.  And our life is chock-full of both.

The big stuff always gets me, but sometimes, I still get thrown off by the small stuff.

Kiran’s preschool associate and teacher informed me today that his tube meal was harder to push in – and was pushing back a little more – than normal.  Honestly, I noticed it this morning, but I thought it was either the blend I was using (yogurt freshly stirred in, a new change) or the old syringes I am stretching to last a few more days.

But this.  This means I have to assess things.  Now that so many others – and new people – are learning and taking on the responsibility of the tube-feeding, I have to be sure this stuff is addressed right away.  If it was just me and his dad, we can forge our way through the difficulties and trouble-shoot.  Or change the button out, if it comes to that.

It is coming up on time to change to the new button anyway (And yes, I realize this USED to be a “BIG stuff”; now it’s been demoted), but we are going up in size this time.  Any change like that simply makes me more nervous.  True for any task.  I still don’t deal well with change – given the nature of my journey with Kiran, I think it’s fair to say I will never deal well with change, because I have certainly been given enough practice with it!

Anyway.  Might be doing a button change tonight.  We will see how things go and if I can get things flowing more smoothly with the one currently in place.

I wonder if maybe things currently in place in my entire life could just start flowing more smoothly?  Maybe?  2019?  Still hoping this will be my year.

Genetics is still a bit beyond my realm of understanding, and reading Kiran’s result report and the study sent along with it proved to be tedious.  I am starting to gain some understanding, but my head is still a bit cloudy.

The one study we know about right now, involving human patients, was published in October of 2017 and included only 5 patients.  All 5 patients had a misspelling in the RAB11B gene.  3 of them (not 2 as originally told – 3 others!) have the exact same misspelling as Kiran.  That misspelling is located at nucleotide position number 64.  What should have been a “G” was altered to an “A”.  This is written in papers like this: c.64 G>A.

It is crazy that such a small alteration would change his body so much.  Although, as I have to keep reiterating to myself, this is not definitive.  As I review this study, I highly suspect (as do his geneticist and counselor) that this is his unifying genetic diagnosis, but the lack of information and evidence keeps us from being sure.  Only 5 people (now 6 with Kiran!) identified in the world….

Still.  Here’s what the study tells me.  When the whole exome sequencing was done on these individuals – the 3 with Kiran’s c.64 G>A misspelling – their ages were 13 (female), 4.5 (female), and 8 years, 5 mos (male).  All three have an intellectual disability.  All three have absent speech.  The female patients both took their first steps with support at age 3; the male, age 6.  The male patient has epilepsy; one female patient does not; one possibly but further investigation necessary (the same (and only of the 3) patient diagnosed with severe/profound intellectual disability).  All 3 had hypotonia (low muscle tone).  Unfortunately, 2 of the 3 didn’t report on abnormal gait or nystagmus, but the one who did (the female mentioned earlier, with severe ID), has both.

Moving from neurological to opthalmological, the female with severe ID also had hypermetropia (far-sightedness), strabismus (cross-eyed), and delayed visual maturation.  The male had none of these; other female didn’t report on the first two but has reduced vision.

Musculoskeletal.  All 3 have developmental hip dysplasia.  All three have tapering fingers, which I still can’t quite even figure out what that means.  And other things unique to them, including one female with bilateral (both feet) club foot.

There is a section on Other as well, but I have a feeling I find this more fascinating, so I will stop here.

There are definite similarities in the abnormalities present.  Kiran has an intellectual disability, absent speech, delay in motor skills, abnormal gait, nystagmus, hypermetropia, strabismus, other yet-to-be-determined visual limitations, and bilateral rocker-bottom foot (which is essentially the opposite of club foot).  And honestly, when you take the information from the other two in this study (which I won’t bore you with, don’t worry), it lends even more suspicion to the fact this RAB11B gene misspelling issue could just be the explanation.

There are a couple ways we can try to connect with these other families.  There is a legitimate website we could choose to share Kiran’s information on – if these families have also done so, it would match us up so we could connect and talk.  Otherwise, we can go the harder route of having the researchers contact the genetics lab and ask to reach out to the providers to see if the patients will consent to connect.  Whew!  But it is a possibility – and an exciting one, since there are only 5 others identified with that gene affected!

I get the sense there is a pretty good chance Kiran will be contacted to be part of some research regarding this, since it is a candidate gene that is already being researched.

I really am finding this all very interesting, but none of it puts any limitations or specific diagnoses on Kiran at this time.  Actually, we would never allow the diagnosis to put limitations on him anyway.  Kiran will progress as far as he progresses, and we will be with him every step.

What a journey.

 

Whole exome sequencing analyzes all of a person’s genes, in both the nucleus (which contains most of a cell’s genetic material) and mitochondria (energy powerhouses of cells, containing a little genetic material).  It can find misspellings or mutations of the genes.

Kiran’s results gave us no well-known diagnosis.  No clear genetic disorder was identified.

However.

A gene mutation was found in a gene that has only been newly described – in the past two years – and is currently under a lot of research.  The geneticist and counselor both feel this mutation may be our diagnosis for Kiran, but there is not enough evidence at this time for it to be definitive.

He has a missense mutation – a SINGLE letter misspelled – in a gene called RAB11B.  Neither my gene nor Kiran’s dad’s gene had this misspelling, so it is sporadic and unique to Kiran’s DNA.  He did not inherit it from us.

No other significant gene variants were discovered in the nuclei.  One misspelling was found in Kiran’s mitochondria DNA.  This misspelling was also present in me.  Both the geneticist and counselor feel this is benign and have no concerns.  They do not feel it gives Kiran a diagnosis.

Back to RAB11B.  Mouse studies have been done.  It appears this is an important gene for brain expression and heart function.  It is important in cell signaling as well.  When the gene is not working, the mice have abnormal movement and neuronal function and show a defect in the nervous system.

Two – TWO – patients who have undergone whole exome sequencing have the same misspelling in RAB11B.  Both have very similar features as Kiran – neurodevelopmental disorder, brain abnormalities, variable vision problems, delayed speech and motor skills, low muscle tone, and small head size.

WHOA.

What does this all mean?  (And yes, I am writing this blog going straight off of notes I was taking during the phone call with the genetic counselor.)

1) We have ruled out more common, well-known neurological genetic syndromes.  This is rare.  We don’t know much about it. (Story of Kiran’s life)

2) This gene is important in brain pathways and heart function.  Two other patients have been identified that have similar features to Kiran.  But.  We don’t know the full spectrum of features that might be associated with this misspelling.

3) We don’t know how rare or common variants in this gene are – there just isn’t enough data out there at this time.  We don’t know if certain mutations can cause certain outcomes.  We don’t know the prognosis.  We don’t know if/that there are any medical management changes that should be made.  There is just a lot we don’t know.

4) This is a change unique to Kiran’s DNA.  This is not inherited from either of us.  It is not something that would have occurred with any environmental influences during pregnancy. (I had to ask, and yes I choked up – It’s not my fault.)

5) The gene is currently under research, so the chances we learn more is really high.  The genetic counselor felt really good about this – that we will likely know more in the future.  Kiran may even get to be a part of some research.  Who knows?  Maybe we will fight to get them to name the eventual diagnosis after him.  (He is the coolest kid in the world, after all, and apparently 1 of only 3 patients known to have this mutation of this gene.)

That might have been a lot of repeat information.  My brain isn’t able to fully process this at this time, so I really am just regurgitating – and expounding, a little, off my notes.  It is better than a negative result.  But it just doesn’t give us…much.  Yet.

About forty minutes ago, I received an email from Kiran’s genetic counselor (well, our family’s genetic counselor, I suppose) saying she was ready to set up a conference call this afternoon to discuss Kiran’s genetic test results.

The call will be around 3:30 this afternoon.

My anxiety is at an all-time high.  This test was sent in at the end of September, and we knew we would be waiting months for the results.  Waiting over the weekend proved to be challenging – thankfully, I had a very busy weekend, both work-related and personal-life-related.  Waiting the next two hours and forty-two minutes?  Yikes.

I keep reminding my brain – and my heart – that none of this is actually new.  Kiran’s genetic code was written in the womb – maybe even designed before he was, as they say, a sparkle (twinkle?) in my eye.  He is and has always been Kiran, this child with this body and this heart and this mind and this genetic code.  Every diagnoses has been who he is before, during, and after receiving it on his medical chart.

I WANT a diagnosis here.  That’s the interesting thing about this particular test.  With the MRI, I wished it would be a boring result – oh, his brain is normal.  I knew it wasn’t.  But my hope would have been for a “negative” result: no added diagnoses, normal brain scan.

I don’t want the whole exome sequencing to come back negative.  I want him to be in that very small 15% that actually gets a significant result back.  Because this would help us.  Not only would it help us in the daily as we talk about who Kiran is when people ask questions…but it would help us in knowing what to expect for his life.  It would help us in finding other people like him for support and encouragement.  It would help my brain so, so much, to be able to plan and prepare for his future, getting to actually understand and know more about what it could hold.

I am very emotional with the waiting.  My body in these situations immediately goes into a fight-or-flight, PTSD-induced, emotionally charged, anxious ball of stress mode.  The waiting is hard.  The news will be hard, either way, just in different ways.  And the processing to come will be hard.

 

Here’s the thing.  I am terrible at waiting.  TERRIBLE.  So this morning, when I saw on mychart that Kiran’s genetic test results are in (but no results actually available for viewing on mychart), I waited a whole hour before I emailed our genetic counselor.

I wasn’t going to.  I told myself I would be patient, because she said she would contact us to set up a conference call to give us the results and let us know steps moving forward (If results tell us something, we will set up an appt right away to learn more; if they don’t, we will probably just follow up in a year).

She did respond back, but our geneticist herself is on call today and has several NICU consults, and it’s hard to say if she will have time to review Kiran’s results today.

I never thought I’d say this, but I HATE that today is Friday.  We have been waiting since September for these results, but waiting the weekend?  That might finally drive me up the wall.

I have never been a big New Year’s person.  I do always reflect, but I find myself doing that periodically throughout the year as well.  Every day is a new day, after all.  Every moment, we have the choice to do something different than the moment before.

But I have to say, I am glad to leave 2018 behind.  It was a hard year.  Last year, at this time, I was feeling a lot of dread going into 2018 – March held a really difficult and emotional divorce proceeding in court – May held Kiran’s MRI and results – Everything felt so huge and scary and insurmountable.

But guess what?  I survived.  All of it.  And not everything went exactly as I had hoped or would have liked – but ultimately, Kiran and I are still here.  Kiran’s dad is still here.  Our family, both blood and friendamily, still here.

I feel like I should get a shirt that says: I survived 2018.

I don’t have dread going into 2019.  I don’t have near the fears and uncertainties.  All the way around, things are relatively stable.  There aren’t big tests or diagnoses I fear for Kiran – I am anxiously awaiting genetic results, but other than that, nothing huge is medically on the horizon for him.  I don’t live in denial that this could change at any moment, but I just don’t hold that anxiety going into 2019.

Honestly, 2019 will hopefully be a year that holds a lot of room for me.  I am learning, every day, every moment, how to better take care of myself and how that actually DOES (for real!) result in being a better mom for Kiran.  I do have some anxiety and fear around some steps forward I will be taking this next year, but it is just nothing like what I felt like a year ago.

I am thankful for the peace.  I am thankful for the lack of unease in my soul.  I am ready to leave the negative of 2018 where it belongs, and I am ready to bring forward the positive of 2018 into 2019 with me.

I am thankful to be spending the last day of 2018 with Kiran and ringing in the first day of 2019 with him as well (though he will be asleep – I’m sure I’ll sneak in for a new year’s kiss).

We survived 2018.  Makes me think we can survive anything.

Whenever I am asked, either in person or on a form, about when Kiran hit certain milestones, I have to pause.  First of all, the answers aren’t simple.  He started out in his life hitting some milestones, like rolling from stomach to back, at “normal” times.  But we also saw some of these milestone actions disappear.  Regression occurred.  And with other milestones – like sitting up, for instance – it’s kinda like I need to put an asterisk and a note.  Kiran still can’t independently pull himself into a sitting position, and you still can’t trust him to maintain that position for a long period of time.

But mostly, I just chose to stop keeping track.  As he wasn’t hitting milestone after milestone and the months – and now, years – passed….for my own sanity, I just chose to not pay attention.  To not fret about the dates he hit this milestone or that one – to not try to remind myself of all of the ones he continues to be nowhere close to hitting.  Or may never hit.

You know – funny thing about preschool pickup – it has a way of slapping you in the face with two really big milestones Kiran has yet to hit.  Every single day, those preschoolers come running out of the building yelling “Mommy!” or “Daddy!” and flinging themselves at their parents.  And every day, I walk up and meet one of the associates at the door, so I can take over pushing Kiran’s wheelchair and ask how his day went.

And truly, I cry tears of joy when I see other kids – especially other heart warriors or other medical warriors who I know are working harder or have worked for so long to reach milestones – when I see them hit those milestones.  But it also breaks my heart just a little, every time.

The grief is ongoing.  The journey is hard.  There are days preschool pickup almost breaks me.  There are days seeing others hit milestones makes me more jealous than happy for them.  It is sometimes ugly and dark and just really difficult.

But also, there is one milestone – only one – I put in my calendar so I can remember it every single year.  On March 8, 2016, Kiran laughed – REALLY laughed – for the first time.

I had no idea then that this would be such a perfect milestone to document.  That laughter is one of the defining characteristics of this amazing little boy.  That he would not only bring me so much joy, but that he, himself, would just embody joy.

He is the reason I am always able to claw my way out of the dark times.

 

April 10, 2016.  If you haven’t been reading this blog from the beginning of Kiran’s story, I want you to find that blog entry in the archives and read it first.

I went to a concert tonight.  For King and Country.  But I didn’t go for them.  I’ll be honest – I wasn’t even sure I liked them or knew any songs by them.  This is how much I don’t pay attention to who sings the songs I hear all the time on the radio (because turns out, I knew several of their songs).  I had no idea I would love their show so much – I mean, the musicality – all the instruments! – a trombone and a violin on the same stage – They put on a good show, and I thoroughly enjoyed it.

But I went tonight for one song.  I went tonight to hear Reckless Love by Cory Asbury.  As soon as I heard he was going to be at this concert, I told my boyfriend we had to go.  I’m not even really a big concert goer.  But this song… It’s MY song.  I still can’t listen to it without tearing up.  And it was so cool – and so worth it – to experience it live.

In April of 2016, I found myself in a really dark place.  My life had changed completely and was very different from any life I had ever imagined.  I had an infant with a serious unrepaired heart condition, a feeding tube, a brace he wore most of the day.  It had become old hat to visit the ER with him.  We were approaching open heart surgery – a huge trip to California for the best surgeon for his heart – and the unknowns were eating away at me.  I was coming out of the fog of the newborn stage and coming to the realization that I (for the second time, mind you, some of you may not know) was in a very unhealthy marriage.  I had no idea what to do or where to turn, and suddenly I was considering going to CHURCH.

For so long, the fact I had made a conscious decision to walk away from my faith was a huge part of what defined me as a person.  I was a skeptic; I hated the hypocrisy of the institution of religion – I still struggle sometimes with these things.  I struggle with being vocal about where I am with my faith now.

It’s more real than any faith I may have had growing up, but it’s not very easy to explain.  I’m not here to explain it, though.

I am here to talk about this line from the song: “There’s no shadow You won’t light up;
Mountain You won’t climb up; Coming after me; There’s no wall You won’t kick down;
Lie You won’t tear down; Coming after me”

It is the line that always makes me cry.  And sometimes, it makes me go “Really, God?  Did it really take ALL OF THE THINGS to get to me?”

Obviously, it did.  And I truly feel like, through it all, He never gave up on me.  Even as I write this out, it all sounds silly to me.  But I feel it, I believe it, I cry every single time.  It is through music that I commune with God, and this song.  This song.

“Oh, the overwhelming, never-ending, reckless love of God
Oh, it chases me down, fights ’til I’m found, leaves the ninety-nine”