Genetic Journey

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.

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