Diagnosis Update: He’s No Angel…

Koan with his chin on a table.

This is an update post in relation Koan’s genetic testing. I got the phone call yesterday afternoon from Lily, the genetic counselor at U of I Children’s Hospital.  She had barely finisher her “hello” before I blurted — “What do you know?”  I’ve been waiting for this call for weeks — since December.  The anticipation of a confirmed diagnosis had been getting harder and harder to bear.  But, of course, Koan has thrown us another curve ball.  He has none of the genetic markers associated with Angelman Syndrom.  I was really surprised.  Over the last few weeks, I had convinced myself that this was it — we were finally going to get a concrete answer.  Angelmans just made so much sense.  He looks like an Angelmans kid and has so many of their traits: he flaps, he has the emotional affect, he loves water, he’s mobility challenged, and he’s speech challenged.  That had to be it.   Nope!  Lily told me she was surprised by the results as well.  In fact, she said that given what she saw of him, she would have bet money that the results would have come back with a positive Angelmans result.  So, now we go to “plan B.”

We are going to continue to look for a genetic diagnosis.  The next set of tests we’ll run is a wide-sweeping panel of epileptic disorders.  This plan here is to take a concrete look at his existing symptoms (seizures) and start there.  This is also pending approval from our insurance provider.  So, we’ll keep our fingers crossed that they will approve this next test as well.  Assuming they do give approval.  We’ll need to get another blood draw.  But, unlike the last time we did this, it sounds like the lab has a service that will actually visit Koan’s school.  While that will be disappointing for Koan — no trip to Iowa City — I think it’s pretty cool.  So, if everything goes according to plan we should get results of this testing back in early May.  Lily indicated that when we get the results back for this testing, there will be three possible results: positive for a genetic epilepsy disorder, negative for all disorders, or inconclusive for one or more disorders.  Knowing Koan, I would lay odds on the inconclusive result.  That’s just his style apparently.  Actually, I think there’s a pretty good chance for an overall negative result.  His EEGs have never indicated anything definitive, just some anomalies.  So, from a physiological/electrical perspective, he’s never been diagnosed with epilepsy.  If the epilepsy genetic panels do come back all negative, we’ll move on to the next set of possible disorders and start the process again.

While I was initially disappointed, — it would have been awesome to get some answers — I’m not feeling all that bad now.  Just like his name’s meaning, I think there’s wisdom to be uncovered in not knowing.  Having an answer and a label would have been great:  support groups and a possible roadmap for what to expect going forward, etc…  But, personally, I’ve never felt comfortable letting others define who I am.  I’ve found it’s much more meaningful to grow my own identity.  Maybe this is Koan’s way of doing that for himself.  Don’t get me wrong…  I still would like to know what’s caused all of these issues for him. And, we are going to continue to pursue these answers as long as it’s feasible.  But, as with so many things in life, the process or the journey is more meaningful than the answer or end result.


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