Whole Exome Sequencing

Traveling back now from yet another Iowa City appointment. I am starting to think I should look for houses there rather than in WDM.

Today, we had a genetic counseling appointment to discuss the whole exome sequencing test – and to sign consent forms, of course.

If Kiran has a genetic disorder that can be identified, this test will give us that information. It is the “most comprehensive genetic test currently available.”

70% of results come back negative, meaning normal.

Genetics has come so far, but there is still so little known. Still, I am glad we are seeking answers at this level.

15% of results come back as VUS’s or “variants of unknown significance”. This means they found some differences in his genes, but they don’t know what the differences mean, if anything. This was what we found with his chromosomal microarray as a newborn. A variant without any known information attached to it.

Only 15% of the results come back with a positive result, or a variant they find that has known significance. Basically – an answer – an underlying genetic cause for all of Kiran’s stuff. A positive result may change his medical care or it may not, but it will give us an answer and resources.

We have to wait 3-4 months for these results. I am cautiously hopeful that Kiran’s results will fall in that last 15%.

But – genetics continues to make exciting progress and there are already the beginnings of even more intricate tests out there – so even if this doesn’t reveal anything, there is always hope.

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It Stinks

I wonder if there will ever come a time in my life when I am not so preoccupied with poop.  Kiran’s poop, to be exact.  It seems we figure out a rhythm and a routine, and he goes daily for a few weeks … and then I have to work way too hard to help him go, every other or every third day.

This stinky rollercoaster is killing me.

For the most part, Kiran’s dad and I are in agreement that we would rather use more natural means, as opposed to medication, for such things.  For instance, he was on reflux meds a couple years ago … once we switched him to a blended diet, we attempted weaning him off.  The reflux didn’t get any better, but it also didn’t get any worse.  We now regularly use aloe juice to help with his reflux.  We monitor and if it comes to a point where medication is necessary, we will absolutely try that again.  But for now, if the reflux is going to be the same whether he’s on medicine or not, we’d rather go with not.

In fact, Kiran has been medication free for over a year now, which is crazy.

Anyway.  There are poop options we have never used.  We have never used a laxative or suppository; we have never used an enema.  We have always been able to use other methods – juice, karo syrup, probiotics, time in stander, bicycle legs, positive tummy pressure/rubs – and have been successful.

But boy – sometimes when our entire day revolves around getting the poop out – I question our pure ways.

And let me tell you – when the poop does come, it’s always a celebration.

Guilty Breaks

I took time for me today.  Something I have realized just recently – in the past two days, even – is that I have put all kinds of parameters on myself on when I can use respite care for Kiran.  I keep enforcing all these self-imposed rules, fueled by guilt and outside pressure, and none of it makes any sense.

Today was so important.  It showed me why I should take advantage of the fact I finally have the opportunity for respite care – and why it’s important to not act on my feelings of guilt for taking time.

Here’s what I learned today.  Well, first, here is what today looked like:

8 am – Kiran was dropped off from his overnight with his dad.  We had a nice cuddly conversation, and he had some time in his stander to encourage bowel movements (I’ll likely blog about poop at some point soon; it seems it takes over my mind more days than I’d like).

9 am – We got loaded up and headed to the library for story time!  A friend was able to join last minute, and we had such a fun time together.  He really likes listening to the stories and watching all the kids.  Our one friend from last week approached again and waited to talk with Kiran.  We learned her name and age and had a nice little chat with her.  Heart-warming.

10:30 am – Shortly after getting home after story time, our respite provider (also a family friend) arrived.  We got to all have a nice chat (Believe me, Kiran was putting in his very loud two cents) for the first 20 minutes or so of her time.

11:15 am – I met a friend – another heart mom – out for lunch.  We got to chat for a little over an hour about life and hardships and joy and just everything.  It was really nice.  Good food, good conversation – I rarely get to do this without my attention being totally focused on Kiran.

12:30 pm – Went to the mall and braved Claire’s for an important birthday party coming up – I bet I will blog about that Sunday so stay tuned!

1:15 pm – Stopped at the library, sat on a bench overlooking the pond, and read my book for a blissful twenty minutes.

2:00 pm – Got home, loaded up car and diaper bag for therapy appt, finished chapter in my book.

2:30 pm – Said goodbye to respite provider, got Kiran ready for therapy, headed out.

3:00 pm – Therapy.

4:00 pm – Dad took Kiran home for his overnight after therapy.

Today, I got to enjoy time with Kiran.  I got to take a break from some of the mundane of the every day.  Kiran got time with one of his favorite people, and really, I didn’t even miss much.  He napped from 12-2, and I wasn’t stuck at the house doing chores during it.  It was so nice to have that kind of day, both with my son and out and about on my own.

Also, therapy made me realize why I needed that break.  Right now, it’s all just really overwhelming.  All of Kiran’s early access therapy appointments are around assessing and preparing for the upcoming preschool transition.  They are all emotional and overwhelming and just hard.  I am still coming down off a massive brain rollercoaster, and it’s been 40 minutes since therapy ended.

That is why I need days like today.  That is why I have to stop acting out of guilt or shame or societal expectations or outside pressures and start acting out of what I know I need to be okay.  If I’m okay, Kiran is more okay.

I know it.  I’m trying to act on it more consistently.

Today, I learned something about myself, about life, and about being okay.  Tonight, I am working toward pushing all thoughts of therapy and preschool aside, and I am going to try to continue to take a break.

Self-care.  I’m a stubborn (slow) learner.

The Community

Empathy has never been a problem for me.  I feel things deeply – for myself and for others.  I have never feared sitting in someone else’s darkness with them, and believe me, I will sob right along with you when you are sad.

It makes this heart life hard sometimes.  I have literally sobbed for diagnoses and deaths of children I have never met in real life before.  I follow along with stories and some of these kids – and their families – become really important to me.

It’s all personal.

I have followed a story of a little boy with the same heart diagnoses (Tetralogy of Fallot, Pulmonary Atresia, and MAPCAs) as Kiran for a few years now.  And today, his family has basically found out he will die in the near future, due to the severity and uniqueness of his MAPCAs and pressures.

I don’t know the whole story, and I don’t have to.  I sit here now, and I cry with this news.  I cry because I hurt for this mama, even as I can’t imagine what that must be like to hear.  I cry because of the very real fear and the knowledge that I am more prepared to hear this kind of news than most.  I cry because of the uncertainty of these heart conditions, and I cry because of the uncertainty of life in general.

I know it’s not just those of us living the heart life that deal with this pain and this loss.

It has been at the forefront of my thinking lately, as it seems so many in my world are dealing with such tragedy, such horrible and scary diagnoses, such pain, such loss.

And there is nothing I can do.  But I will cry.  For you, with you, every time.

You can count on me to cry.

Tired

I don’t think I ever had a concept of what it felt like to be tired prior to having Kiran.  The lethargy I feel deep in my bones – and in my brain – and in my soul – is unlike anything I had ever experienced during that time of my life.  The pre-Kiran years.

Finding the balance of self-care is even tricky.  Do I need to just go to sleep early (taking care of my physical fatigue) or would staying up to read (taking care of my brain/soul fatigue) be more beneficial today?  Or – a more classic conundrum for any human, ever – should I take a walk or eat ice cream?  Spoiler: Yesterday, I did both.

I sometimes chastise myself for being so tired.  Or I compare myself to other moms and feel like I have no right.  Other moms work full-time and take care of 18 children, 7 of which are special needs, after all.  They do it all while sipping their pumpkin spice lattes and looking perfect in their fall attire.

No matter what, I am very good at always coming up short.  At never being enough.

Today, I want to remind myself why I am tired.  I got up with Kiran at 6 am and chose to embrace the snuggle time in his bed for a solid 20 minutes before tackling our day.  He got his juice and morning time in the stander while I prepped his breakfast – both oral and tube – and got myself some coffee.  We decided, during breakfast (after the chewy tube and mouth-wake-up exercises, after his crunchy prep bites and other bite/drink refusals), we would go to the zoo today.  Today is the only day that is free this week – the only thing on our calendar was paperwork for me to fill out for the nurse for preschool.

Here’s what I did to get ready for the zoo: Pulled up his mid-morning poopinator blend and his lunch into syringes for easy on-the-go feeding.  Got together everything we would need for oral eating (puree pouch, spoon, bib, crunchy meltables, thickened water, special nosey cup, check) and g-tube feeding (filled syringes, aloe juice, water, water flush syringe, check) and packed his cooler bag, complete with ice packs.  Made sure diaper bag was packed – added diapers and doublechecked my zoo membership was in there.  Got Kiran dressed, brushed teeth, washed face, combed hair – got myself dressed – washed both our glasses, loaded wheelchair into car, loaded bags into car, shoes on….

Off to the zoo.  At the zoo, I get to tackle certain physical obstacles (bathrooms being a bit crowded for his wheelchair when busy, many of the pathways being bumpy for his caster wheels so we do a lot of wheelie walking, steadying him to get myself off the itty bitty zoo train while making sure he doesn’t topple over) and emotional obstacles (feeling like I am taking up too much space/time or feeling embarrassed when tackling some of the physical obstacles, dealing with all of the stares).

I left the zoo, both glad we did it and feeling like I was on the verge of tears.  This is normal, for me, with practically any social outing.  They take a lot out of me.

We didn’t stay long enough to eat lunch at the zoo, so we did that when we got home.  So much to think about during meal time with Kiran, and today, I had some concerns I texted his dad about and plan to talk with his feeding therapist about tomorrow.  This takes up both time and a lot of emotional energy for me – worry is a big reason why I am tired all the time.

Once Kiran went down for his nap, the fun really began.  Because it is difficult for me to carry Kiran around and pick things up, we tend to leave a lot in our wake in the mornings, especially when we are trying to get out the door.  So I have to reset everything, picking up toys and moving his equipment (stander, walker) back to where it belongs, throwing laundry in the hamper, etc.  Dishes need to be tackled.  I need to eat.  And today, I filled out medical paperwork for the school nurse.  Oh, right, I also called to see if I could schedule his swallow study, finding out the doctor’s orders still haven’t arrived, so made another phone call to leave a message with pediatrician’s nurse to check on said orders.  Checked the mail.  Ignored the fact that I should be making other phone calls or tackling numerous other projects and instead, sat down to write.

This week, we have five appointments, 4 therapy, 1 medical.  1 is in Iowa City.  I have to order his medical supplies.  I have been putting off an insurance phone call for awhile now, and it looms over me constantly.  We have preschool supplies to get.  In the meantime, I haven’t done any of the many daily therapy tasks I should do with him (except stander) yet today.  And when he does go with his dad, for a short weekend this time, I have to work a catering event.

I don’t write this all out to compare – so many other moms (and dads!) tackle this kind of stuff and more, some without the support I do have (yay for nanas and papas and respite care).  For me, I have to somehow just take stock of my life and say – Yeah, this is exhausting.

If I were speaking to a friend (you know how they say you should speak to yourself like you would a loved one….), I would say: You are allowed to be tired.  Look at everything you tackle, on a daily basis.  This isn’t just physical tired; this is mental and emotional and spiritual tired.  Keep trying to find the time to take care of you in all of this – and as you do so, stop feeling guilty about being tired.

This last month has been a month full of tired.

 

 

Bridges

I give good advice.  “Don’t worry about crossing bridges you haven’t come to yet.”

Yes, I stole that advice.  Obviously.  It’s been around for awhile, but I am good at reminding people of it.

Except myself.  This preschool bridge is looming in the distance.  It seems like such a large, long, terrifying bridge to have to cross.  It’s like one of those swaying rope bridges, precariously swinging with every step, the type you’re afraid to even look down from…and I see it.  It’s right up ahead.  How do I keep myself from worrying about it, when it’s all I can think about?

It doesn’t help that before the bridge comes a long path, filled with assessments and meetings and paperwork.  It doesn’t help that my weekly calendar has been filled up with all of these things and will be for the entire time leading up to the actual bridge.

Maybe I’m analogizing wrong.  No, I don’t care that’s likely not a real word.

Maybe I’m already on the bridge.  Does that give me permission to worry?  I seem to be spinning out around this whole thing today.  My brain is a little quieter, because I took the time to email our early access team to ask questions that have been on a list for weeks now.  But I keep looking at the supply list, thinking about what other things Kiran may need in the classroom.  I keep glancing over at the paperwork the nurse gave us on Friday to fill out, and I dread – always – filling out medical paperwork.  How do you possibly list his entire medical history?  You tell me.  Maybe I’ll give her a link to this blog.

I know it’s going to be okay.  I know that this bridge will get crossed, like every other bridge we’ve come to so far.  We will get to the other side.  In fact, I will likely look back and think how silly I was to fear this bridge so much.  With its crossing will come much joy and relief and the continuation of Kiran’s progress in all areas.  I know this.

But I have trouble letting go.

I know, shocker.

I think what scares me the most is I have been able to walk across almost all of the bridges Kiran has come to in his life so far.  And this preschool bridge?  It’s a bridge that leads to other bridges…bridges Kiran will sometimes have to cross without me.  I know every parent faces this.  I know it’s exactly the goal of parenting: to get your child to a place where they can cross bridges without you.  It’s harder, when your child needs more help.  It’s harder, trusting others to walk across with him.

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

I can’t cross every bridge with him.  I wish I could.

Maybe I should build a bridge called Homeschool.

 

Cheesecakes

We spent a good portion of our Saturday morning delivering cheesecakes.  I don’t talk a lot about this, but I am 49% owner of a catering company/concession trailer, Chef’s Edge/Woody’s Pickle Shack.  And my business partner and I are passionate about and dedicated to raising funds for local organizations who support families living with congenital heart defects.

Woody’s Pickle Shack, it has recently been decided, has lived its life.  Our last appearance will be at the Superhero Heart Run on October 14th.  We were proud to be there last year, feeding all the amazing superheroes who came out to support Help-A-Heart and Heart Heroes.  We cannot think of a better way to go out with a bang.

Chef’s Edge will become our focus, and we always focus on giving back.  September is a special month, since we celebrate Kiran’s heartiversary.  In the heart world, the anniversary of a heart surgery is a big milestone.  Many children born with congenital heart defects live in heart failure for a good portion of their lives.  I don’t think people realize that.  Pre-surgery, Kiran was managing heart failure.  We have had a really blessed story; Kiran has been very heart stable since his first open heart surgery.  Still, September 7th is a big deal.  Living another year becomes more monumental when you have a serious heart condition.

Every September, Chef’s Edge will do a big cheesecake fundraiser honoring Kiran’s heartiversary.  Last year, we raised $305, which we donated through Team Keen on Kiran for the Superhero Heart Run – again, financially supporting Help-A-Heart and Heart Heroes.  This year, we raised $140 through the same fundraiser.  We also did heart-shaped cheesecakes for Valentine’s day and raised $75 for Help-A-Heart last February.

It doesn’t sound like much – but trust me, coming from someone who has benefited from both of these amazing heart organizations, it matters.  And we will keep doing it, because it matters to us.

I was never really one to be vocal about causes.  I never really had something I felt that passionate about.  I am passionate about love – equality – treating people with respect – but never before did I feel the need to get behind a megaphone.  Never before did I become that person constantly posting on social media about that one thing.

This entire blog exists because my son was diagnosed in utero with a heart condition.  My entire life has changed because my son was diagnosed in utero with a heart condition.  My platform, my megaphone, my facebook will forever be about making people aware of what it all means.  Kiran’s heart diagnosis is not his entire story, and my life has changed because of everything else that little man has going on … but that diagnosis was the beginning.

If you want to support CHD awareness and research and help families living in the trenches of the heart life, please consider a donation here.  Likewise, if you just want to support and honor Kiran – his heartiversary Sept. 7th; his upcoming birthday Oct. 21st; his recent television debut earlier this week; his story and his smile and his life – THIS is how we ask you do that.  It is the most meaningful gift you could offer our family.  Every dollar counts:

https://my.superheroheartrun.com/team/187464

 

How.

How?  My question of the day.

How do you summarize Kiran?  How do you take the past three years of daily life and help a stranger understand who he is?

How do you trust an assessment to tell you what you need to know?  How do you make sure the forms say enough to help these people help your son be the best he can be?

How do you possibly wave goodbye and leave your heart inside a classroom, knowing you cannot be there to protect him, to be his voice, to advocate, to help him acclimate….?  How do you entrust others with this most precious task?

How do you make sure he will be safe and feel loved when you’re not there?

How am I ever going to leave that school next month?

Force Feed

You cannot force a child to eat.  That about sums up the frustration of my life.

For those who have followed our story from the beginning, you know all about our food saga.  I was prepared for challenges once I found out about Kiran’s heart defect, but I never expected us to still be in the trenches with it (or rather, perhaps, in the trenches once again).

Here’s our food story, in a nutshell.

The dream: I would be able to breastfeed primarily, even if he needed some formula to boost caloric intake.  We would NOT go home with a feeding tube.

The reality: I barely even got a chance to try breastfeeding.  I didn’t have much support with it (it was the weekend by the time we trialed), and the importance of calories and fortifying was already being pushed in my face.  I was too scared – too meek – at the start of Kiran’s life, so I just allowed myself to be pulled in whatever direction the doctors were pointing.  It is one of my bigger regrets, but I choose to not dwell on it.  I pumped exclusively (and fortified with formula for calorie/volume needs) for the first six months of Kiran’s life, and then he went to formula.  He did come home without a feeding tube, but we ended up placing one within a few days.  Then we went a period of time (three months?) when he took his entire intake orally.  Then came the feeding tube again (it was just too much work for his heart pre-surgery), the g-tube surgery, and here we are.

The dream: His oral intake would take off after open heart surgery, and we would be off the g-tube in no time.

The reality: He took off for a minute, and then he went back to bottle refusal.  His skills at the time were way too far behind to safely take in everything by mouth, and we had to rely on the tube for his full nutrition, using oral eating as mere practice.  We are now over two years post-op, and until the last month or so, this has been our reality.

Practice does make – well, not perfect in this case – but it makes progress!  As I shared, his feeding team in Iowa City was really impressed with his skills acquisition in the last six months, and his weight gain was more than they want to see in that timeframe.  He is now taking enough by mouth for it to start counting toward his calorie needs.  It is a really big deal and a really big step to decrease calories through the tube – and it is also the start of a really big rollercoaster ride, with Kiran showing us how much he’s willing (and safely able) to do orally.

The dream: The reduction in calories will make every meal start going so much better, and he will love eating – and finally, finally, one big piece of our everyday life will become “normal”.  We will be off the g-tube soon!  (This one truly is a dream and, unlike the other two, I am stating this one a little tongue-in-cheek – I know a LOT more now.)

The reality: He is having some really good meals – more than he’s had ever – and it’s a very exciting time!  He also has some really normal-for-him meals and some really total-refusal-type meals…and I am finding those to be more frustrating now.  For the longest time, I was in a fairly good place in my head around eating, because we really weren’t chasing some giant goal.  Now, I feel the pressure.  I noticed today at lunch (one of the really good meals!) how much I am letting how mealtimes go affect my stress level and overall mood.

So, really, I’m just here to remind myself of our journey.  It hasn’t been perfect, and it certainly hasn’t gone the way I wanted it to.  But Kiran has always gotten the nutrition he needs, and he has grown big and strong because our food journey has been what it’s been.  And we have come really far!  His skills really have gotten so much stronger, and we are seeing an eagerness to open his mouth for foods we have never seen before!

This IS going to be a rollercoaster.  It’s going to be a long-term process.  We may never fully make it off the tube.  I know these things.  And I just want to remind myself to take the pressure off.  I don’t want meals to become the stressor they have been in the past.  I want to celebrate and enjoy the good meals and just let the bad or mediocre meals roll off my back.  Because more good meals are around the corner for Kiran.