I have a feeling we are at the start of a very long, very frustrating journey to a (hopeful) diagnosis.

Test results for the screening for congenital disorders of glycosylation showed up on mychart yesterday.  The first word I saw, in red at the top, was Abnormal.  And guys – this is still so weird – I was THRILLED.  Joyous, even.  I was ready to throw a parade to celebrate.  We were on the right track with this test!  One step closer to a diagnosis…some answers…a path to follow!

And then I read more of the report.  The two red numbers, showing the abnormal results, were just barely out of normal range.  For instance, if the normal number should be equal to or greater than .50, his was a .48.  The notes at the bottom, from the person interpreting the test, said it is essentially a normal result and is not indicative of these disorders.

Of course, they then went on to say that sometimes, these numbers can normalize for a time.  If we are suspicious his symptoms still strongly point in this direction, we should test again in 6-10 weeks.

SIGH.

This is just the start.  I understand that.  How exciting if the very first pathway we suspected was the right one, though!?!  I guess it is not meant to be.

We should be getting a phone call from the genetic counselor soon to discuss these results.  My biggest questions are: Do they suspect strongly enough that they feel we should test again in a couple months?  What is our next best path to test, and how long do we have to wait to try something else?

Right now, I am sitting in a position where I no longer fear news.  I crave it.  I want information.  Diagnoses.  Anything I can get my hands on that will help me help Kiran.  I know full well the process of information/diagnosis, grieving and struggling, and pulling my crap together for another day.  There isn’t anything to fear anymore in that cycle.

My only fear – the one I try not to put much time or energy into – is that we will stumble upon a diagnosis with a short life expectancy.  I don’t see this happening.  I don’t know why – but I just don’t feel this will be Kiran’s story.  Not that I am in denial – his heart defect alone could cause fatal problems at any point down the line.  I just can’t live in that fear, so I won’t face it unless I have to.

Cross that bridge when you get there, and all that jazz.

The years are long and short.  I still can’t quite wrap my mind around how time is like that: rushing by, yet holding so many happenings.

Three years ago, I heard words I never thought I’d hear: There is something wrong with your baby’s heart.

Before those words, I naively thought I had been through the tough season of my life.  I honestly thought that I was somewhat invincible to life’s tragedies because I’d already lived through one.

Life is a brutal teacher.

Grief is an unrelenting force.

Love is a powerful phenomenon.

 

I am often surprised by my stoicism.  And yet, when I randomly have an emotional moment I cannot – literally, cannot, for the life of me – control, I am even more surprised.  This happened on Monday, when the genetic counselor called me to make sure they had all of Kiran’s updated info before our appointment with them on Tuesday.  She asked a simple question – what is your biggest concern right now? – Well.  Well.

I teared up immediately.  And began apologizing even faster.  It caught me completely off-guard, like the question “Do you have any siblings?” used to.  I forget, sometimes – living inside stoicism, hiding behind anger, muscling through the daily routine – that I also haven’t grieved this yet.

I shared with someone, in a rare moment of transparent honesty, that I feel like this new cycle of grief hasn’t been faced yet.  And when I get there, it will pull me under for awhile.  I don’t have the luxury of living inside the grief, but I know – I know, from previous experience – at a certain point, it bubbles up inside to a point it cannot be ignored.

This isn’t what I came here to write about.

We saw genetics on Tuesday afternoon.  This wasn’t so much an information-receiving appointment – more a next steps kind of appointment.  We did talk through the MRI again.  We heard the same things.  Kiran’s brain is small.  This is consistent with what we are seeing with his development.  He is progressing, it is great – at some point, we don’t know when, he will reach the top of his skill level.  But he is progressing.

He also has a small corpus callosum, apparently.  That was new information.  That is the part that connects the two brain hemispheres.  The genetic doctor told us there are some people who don’t even have a corpus callosum and have no noticeable symptoms – so this may be insignificant, the fact Kiran’s is small.

We are being referred to a neurologist.

They do have a plan for genetic testing.  My poor, sweet boy had to have blood taken – always, always a hard thing; one of the hardest for him, it seems.  They will first do a screening for Congenital Disorders of Glycosylation.

I am not a geneticist.  My very crude, basic understanding is this is an umbrella term covering several disorders involving proteins being sent to the wrong places in the body, causing multiple things to develop or function in abnormal ways.

I glanced through the informational packet on this.  Briefly skimmed some of the specific syndromes.  I don’t care to get too invested until I know this is what Kiran has.  I hold so much in my brain already.

We will have the results in two to three weeks, which is also known as lightning speed in the genetic world.  If the results are abnormal, we can do further testing to hopefully find a specific diagnosis within the disorders of glycosylation.  If it comes back normal, the genetic doctor had some other ideas of paths of testing to follow.

Why do this?  It’s simple.  If we can find a diagnosis – pinpoint an underlying cause for the many conditions Kiran lives with – we can have a prognosis.  We can have an idea of what his life might progress like – what kinds of services or equipment he may need – what we can do to help him live the best life he can live.  A diagnosis would help us plan and prepare – two of my most favorite words.  And it would help us understand.

Kiran is Kiran.  A diagnosis wouldn’t define him or limit him, but it could help me help him.  It could help me wrap my brain around the life he will have – the life we will build together and share.

We are taking steps in the right direction.  Always.  I can feel that truth.