I cannot remember the last time I had a day, in the middle of the week, with no Kiran. This week is his dad’s week for overnights both Tuesday and Wednesday nights, and with the cold today, we decided it was best for Kiran to just stay put at his dad’s house during the day today (when he would normally be in my care from 8 am to 5 pm).

The timing is good, because I need to blend. So I have spent the last three hours – and will likely spend approximately another hour and a half this afternoon – blending real food for Kiran’s g-tube.

In recent history, until today, this has been feeling like a chore for me. It is hard to find the time and brain capacity to make these blends. I tend to blend for approximately one month at a time and store in the freezer. I keep track of calories, protein/fat/carb percentages, and I try to make sure he is getting a good variety of foods.

Today, I am having fun with it and feeling very good about the variety in the blends. I am making 3 each of the following blends: breakfast, lunch, snack, and dinner. Each big blend makes 8 meals, so I will have 24 days’ worth of food once I’m finished.

In these 24 days, Kiran will have these fruits: applesauce, strawberries, mangoes, kiwi, grapes and cantaloupe. He will also have prunes (daily, in every snack blend) and raisins. He will have these vegetables: spinach, cabbage, carrots, broccoli/cauliflower/carrots in cheese sauce, and corn/carrots/peas/green beans. He will also have red peppers and avocado (fruits, ok). Protein includes: turkey, pork loin, garbanzo beans, and black beans. Also, peanut butter, cheese, and Greek yogurt (every day, stirred into his breakfast blend). I blend cereal and breakfast fruit bars, crackers, whole wheat tortilla shells, whole grain bread, sweet potatoes, etc.

I put my focus back on the variety this month, and I think it’s pretty well-rounded. He is getting far more fresh fruits and veggies than most oral-eating three year olds. I get stressed about this task sometimes, but I’m enjoying it today.

Maybe because there is literally nothing else I need to accomplish today. I don’t have to be anywhere. I don’t have to take breaks to entertain or feed Kiran. I don’t have other meal prep to do (last month, I made the mistake of trying to blend on a Saturday while also meal-prepping for our catering company). It’s just me and Christina Perri and Kelly Clarkson, and a blender.

All for my boy.

Phone calls had piled up again, like they do when you’re a person who doesn’t like making them.  I got caught up, and in doing so, I realized my voicemails weren’t coming through on my phone.

Not a good thing when you have as much phone communication as I do regarding scheduling appointments and finding equipment and some of my own personal appointments and college things lately.

I did figure out how to go in and access the voicemails, but I still haven’t fixed the issue that notifications aren’t coming through when I receive them.  I’ll figure that out later today or tomorrow.

Anyway, that led me to a somewhat-related task of going through old voicemails and deleting them from my phone.  The oldest voicemails I had dated January 2015 – before I even knew I was pregnant with Kiran.  The two oldest ones were messages left to confirm reservations at one of our favorite restaurants in Seattle.  Bittersweet to remember that time in my life, the Before.

And then I started getting to the medical voicemails.  Confirming appointments with the midwife and then the ob/gyn (when insurance wouldn’t cover the midwife) and then ….

Then came the voicemails that marked the Transition from Before to After.  Phone calls regarding a follow-up ultrasound and recommendations.  And a very long message from a kind and excellent maternal fetal specialist (I had forgotten about) who went above and beyond to help us find care in Iowa, as our After with Kiran started just two weeks before a planned move halfway across the country.

Nothing in the messages, save the last one, was particularly heart-wrenching.  But it all took me back to that time, to those moments, to the place when I thought my entire world was crashing down all around me.

It wasn’t.  It hasn’t.  Though there have been many more such moments, with Kiran, with his dad, with my own internal struggle, when I have thought my entire world was crashing down all around me….it’s still intact.  It’s just different.  You crash and then you rebuild, you fall into the darkness and then climb back out into the light, you stumble and trip and then you keep putting one foot in front of the other.

We have come so far from that first moment.  The After isn’t all bad – it’s not even mostly bad – it’s just a life redefined.

It’s a long road ahead, but we journey together.

2018 was Kiran’s year to start school.  Looks like 2019 is my year to go back to school.  Although I have a bachelor’s degree in psychology, I have never really done anything with it, per se.  I would argue it helped me tremendously with my nannying career and currently helps my parenting skills (a little), but no clear-cut career path has ever presented itself.

For a long time now – at the very least, the past year, I have been thinking about what I want to be when I grow up.  The life I long-envisioned is not the life I live currently, so it is important for me to pursue a job I am passionate about, make decent money, have the opportunity for decent health insurance (for Kiran, mostly), and be flexible enough that I can be present as Kiran’s mother the way I want to be.

It’s funny.  As a professional nanny for nine years, I always shied away from working with any family with non-typical children.  And suddenly, it’s become my life’s passion to work with non-typical children.  After much hemming and hawing over which type of therapy professional I wanted to become (Occupational Therapist, Special Education Consultant, and Speech-Language Pathologist were at the top of my list of considerations), I decided to apply to college.  For the second time in my life.  The last time I was in college?  THIRTEEN YEARS AGO.  (I am old.)

Late last night, I decided to check the mail.  I’m not sure why, because I wasn’t actually expecting a response from the admissions office just yet.  They only received my transcript, completing my application, last Thursday.  But lo and behold, an envelope arrived from University of Wisconsin Eau Claire.

I’m in.  I will start taking classes, studying Communication Sciences and Disorders, this summer!  Honestly, I think speech therapy “won” because I want to be able to communicate with my son.  I want to be able to give him – and other children like him – a “voice”, however that looks.  And I want to be as educated and prepared as I can be, to help him succeed, to help our relationship, to help other families enmeshed in the heartache I am currently experiencing.

It’s going to be a long road.  It always is.  But I have taken the first step.  College bound!  (Well, not really, the classes are all online.)

 

Grief hides behind my smile
Filling each crease and corner
No gaps between my teeth
Each colored in with pain

How to explain
The smile is real – no fake joy
But it comes at a cost
I get tired of paying

While we are slaying
The dragons of disease
Diagnoses
Limitations looming

Yet you are blooming
I won’t forget
To celebrate each moment
But grief joins me

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.